Incidental Mutation 'R5568:Dmxl2'
| ID |
437034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmxl2
|
| Ensembl Gene |
ENSMUSG00000041268 |
| Gene Name |
Dmx-like 2 |
| Synonyms |
E130119P06Rik, 6430411K14Rik |
| MMRRC Submission |
043125-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
54272442-54408910 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 54330643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118163]
[ENSMUST00000118163]
[ENSMUST00000118163]
[ENSMUST00000118163]
[ENSMUST00000118163]
[ENSMUST00000118163]
[ENSMUST00000118600]
[ENSMUST00000118600]
[ENSMUST00000118600]
[ENSMUST00000118600]
[ENSMUST00000118600]
[ENSMUST00000118600]
[ENSMUST00000127880]
[ENSMUST00000127880]
[ENSMUST00000127880]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000118163
|
| SMART Domains |
Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
1430 |
1903 |
1.5e-71 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2472 |
2490 |
N/A |
INTRINSIC |
|
low complexity region
|
2635 |
2649 |
N/A |
INTRINSIC |
|
low complexity region
|
2744 |
2766 |
N/A |
INTRINSIC |
|
WD40
|
2774 |
2809 |
5.73e0 |
SMART |
|
WD40
|
2813 |
2852 |
8.88e0 |
SMART |
|
WD40
|
2859 |
2901 |
2.67e-1 |
SMART |
|
WD40
|
2907 |
2946 |
2.57e-2 |
SMART |
|
WD40
|
2949 |
2988 |
3.61e-6 |
SMART |
|
WD40
|
3001 |
3039 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118163
|
| SMART Domains |
Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
1430 |
1903 |
1.5e-71 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2472 |
2490 |
N/A |
INTRINSIC |
|
low complexity region
|
2635 |
2649 |
N/A |
INTRINSIC |
|
low complexity region
|
2744 |
2766 |
N/A |
INTRINSIC |
|
WD40
|
2774 |
2809 |
5.73e0 |
SMART |
|
WD40
|
2813 |
2852 |
8.88e0 |
SMART |
|
WD40
|
2859 |
2901 |
2.67e-1 |
SMART |
|
WD40
|
2907 |
2946 |
2.57e-2 |
SMART |
|
WD40
|
2949 |
2988 |
3.61e-6 |
SMART |
|
WD40
|
3001 |
3039 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118163
|
| SMART Domains |
Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
1430 |
1903 |
1.5e-71 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2472 |
2490 |
N/A |
INTRINSIC |
|
low complexity region
|
2635 |
2649 |
N/A |
INTRINSIC |
|
low complexity region
|
2744 |
2766 |
N/A |
INTRINSIC |
|
WD40
|
2774 |
2809 |
5.73e0 |
SMART |
|
WD40
|
2813 |
2852 |
8.88e0 |
SMART |
|
WD40
|
2859 |
2901 |
2.67e-1 |
SMART |
|
WD40
|
2907 |
2946 |
2.57e-2 |
SMART |
|
WD40
|
2949 |
2988 |
3.61e-6 |
SMART |
|
WD40
|
3001 |
3039 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118163
|
| SMART Domains |
Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
1430 |
1903 |
1.5e-71 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2472 |
2490 |
N/A |
INTRINSIC |
|
low complexity region
|
2635 |
2649 |
N/A |
INTRINSIC |
|
low complexity region
|
2744 |
2766 |
N/A |
INTRINSIC |
|
WD40
|
2774 |
2809 |
5.73e0 |
SMART |
|
WD40
|
2813 |
2852 |
8.88e0 |
SMART |
|
WD40
|
2859 |
2901 |
2.67e-1 |
SMART |
|
WD40
|
2907 |
2946 |
2.57e-2 |
SMART |
|
WD40
|
2949 |
2988 |
3.61e-6 |
SMART |
|
WD40
|
3001 |
3039 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118163
|
| SMART Domains |
Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
1430 |
1903 |
1.5e-71 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2472 |
2490 |
N/A |
INTRINSIC |
|
low complexity region
|
2635 |
2649 |
N/A |
INTRINSIC |
|
low complexity region
|
2744 |
2766 |
N/A |
INTRINSIC |
|
WD40
|
2774 |
2809 |
5.73e0 |
SMART |
|
WD40
|
2813 |
2852 |
8.88e0 |
SMART |
|
WD40
|
2859 |
2901 |
2.67e-1 |
SMART |
|
WD40
|
2907 |
2946 |
2.57e-2 |
SMART |
|
WD40
|
2949 |
2988 |
3.61e-6 |
SMART |
|
WD40
|
3001 |
3039 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118163
|
| SMART Domains |
Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
1430 |
1903 |
1.5e-71 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2472 |
2490 |
N/A |
INTRINSIC |
|
low complexity region
|
2635 |
2649 |
N/A |
INTRINSIC |
|
low complexity region
|
2744 |
2766 |
N/A |
INTRINSIC |
|
WD40
|
2774 |
2809 |
5.73e0 |
SMART |
|
WD40
|
2813 |
2852 |
8.88e0 |
SMART |
|
WD40
|
2859 |
2901 |
2.67e-1 |
SMART |
|
WD40
|
2907 |
2946 |
2.57e-2 |
SMART |
|
WD40
|
2949 |
2988 |
3.61e-6 |
SMART |
|
WD40
|
3001 |
3039 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118600
|
| SMART Domains |
Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
low complexity region
|
1426 |
1436 |
N/A |
INTRINSIC |
|
Pfam:Rav1p_C
|
1447 |
1903 |
4.2e-68 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2471 |
2489 |
N/A |
INTRINSIC |
|
low complexity region
|
2722 |
2744 |
N/A |
INTRINSIC |
|
WD40
|
2752 |
2787 |
5.73e0 |
SMART |
|
WD40
|
2791 |
2830 |
8.88e0 |
SMART |
|
WD40
|
2837 |
2879 |
2.67e-1 |
SMART |
|
WD40
|
2885 |
2924 |
2.57e-2 |
SMART |
|
WD40
|
2927 |
2966 |
3.61e-6 |
SMART |
|
WD40
|
2979 |
3017 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118600
|
| SMART Domains |
Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
low complexity region
|
1426 |
1436 |
N/A |
INTRINSIC |
|
Pfam:Rav1p_C
|
1447 |
1903 |
4.2e-68 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2471 |
2489 |
N/A |
INTRINSIC |
|
low complexity region
|
2722 |
2744 |
N/A |
INTRINSIC |
|
WD40
|
2752 |
2787 |
5.73e0 |
SMART |
|
WD40
|
2791 |
2830 |
8.88e0 |
SMART |
|
WD40
|
2837 |
2879 |
2.67e-1 |
SMART |
|
WD40
|
2885 |
2924 |
2.57e-2 |
SMART |
|
WD40
|
2927 |
2966 |
3.61e-6 |
SMART |
|
WD40
|
2979 |
3017 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118600
|
| SMART Domains |
Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
low complexity region
|
1426 |
1436 |
N/A |
INTRINSIC |
|
Pfam:Rav1p_C
|
1447 |
1903 |
4.2e-68 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2471 |
2489 |
N/A |
INTRINSIC |
|
low complexity region
|
2722 |
2744 |
N/A |
INTRINSIC |
|
WD40
|
2752 |
2787 |
5.73e0 |
SMART |
|
WD40
|
2791 |
2830 |
8.88e0 |
SMART |
|
WD40
|
2837 |
2879 |
2.67e-1 |
SMART |
|
WD40
|
2885 |
2924 |
2.57e-2 |
SMART |
|
WD40
|
2927 |
2966 |
3.61e-6 |
SMART |
|
WD40
|
2979 |
3017 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118600
|
| SMART Domains |
Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
low complexity region
|
1426 |
1436 |
N/A |
INTRINSIC |
|
Pfam:Rav1p_C
|
1447 |
1903 |
4.2e-68 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2471 |
2489 |
N/A |
INTRINSIC |
|
low complexity region
|
2722 |
2744 |
N/A |
INTRINSIC |
|
WD40
|
2752 |
2787 |
5.73e0 |
SMART |
|
WD40
|
2791 |
2830 |
8.88e0 |
SMART |
|
WD40
|
2837 |
2879 |
2.67e-1 |
SMART |
|
WD40
|
2885 |
2924 |
2.57e-2 |
SMART |
|
WD40
|
2927 |
2966 |
3.61e-6 |
SMART |
|
WD40
|
2979 |
3017 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118600
|
| SMART Domains |
Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
low complexity region
|
1426 |
1436 |
N/A |
INTRINSIC |
|
Pfam:Rav1p_C
|
1447 |
1903 |
4.2e-68 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2471 |
2489 |
N/A |
INTRINSIC |
|
low complexity region
|
2722 |
2744 |
N/A |
INTRINSIC |
|
WD40
|
2752 |
2787 |
5.73e0 |
SMART |
|
WD40
|
2791 |
2830 |
8.88e0 |
SMART |
|
WD40
|
2837 |
2879 |
2.67e-1 |
SMART |
|
WD40
|
2885 |
2924 |
2.57e-2 |
SMART |
|
WD40
|
2927 |
2966 |
3.61e-6 |
SMART |
|
WD40
|
2979 |
3017 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118600
|
| SMART Domains |
Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
84 |
4.58e1 |
SMART |
|
WD40
|
100 |
136 |
2.28e2 |
SMART |
|
WD40
|
159 |
198 |
2.57e-2 |
SMART |
|
WD40
|
221 |
269 |
1.03e-1 |
SMART |
|
low complexity region
|
420 |
440 |
N/A |
INTRINSIC |
|
WD40
|
741 |
793 |
1.42e2 |
SMART |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
961 |
N/A |
INTRINSIC |
|
WD40
|
985 |
1029 |
1.15e1 |
SMART |
|
WD40
|
1236 |
1273 |
2.84e2 |
SMART |
|
low complexity region
|
1426 |
1436 |
N/A |
INTRINSIC |
|
Pfam:Rav1p_C
|
1447 |
1903 |
4.2e-68 |
PFAM |
|
low complexity region
|
1978 |
1993 |
N/A |
INTRINSIC |
|
coiled coil region
|
2118 |
2146 |
N/A |
INTRINSIC |
|
low complexity region
|
2189 |
2204 |
N/A |
INTRINSIC |
|
low complexity region
|
2251 |
2266 |
N/A |
INTRINSIC |
|
low complexity region
|
2471 |
2489 |
N/A |
INTRINSIC |
|
low complexity region
|
2722 |
2744 |
N/A |
INTRINSIC |
|
WD40
|
2752 |
2787 |
5.73e0 |
SMART |
|
WD40
|
2791 |
2830 |
8.88e0 |
SMART |
|
WD40
|
2837 |
2879 |
2.67e-1 |
SMART |
|
WD40
|
2885 |
2924 |
2.57e-2 |
SMART |
|
WD40
|
2927 |
2966 |
3.61e-6 |
SMART |
|
WD40
|
2979 |
3017 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123709
|
| SMART Domains |
Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
WD40
|
187 |
231 |
1.15e1 |
SMART |
|
WD40
|
438 |
475 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
632 |
1105 |
9.1e-72 |
PFAM |
|
low complexity region
|
1180 |
1195 |
N/A |
INTRINSIC |
|
coiled coil region
|
1319 |
1347 |
N/A |
INTRINSIC |
|
low complexity region
|
1391 |
1406 |
N/A |
INTRINSIC |
|
low complexity region
|
1453 |
1468 |
N/A |
INTRINSIC |
|
low complexity region
|
1674 |
1692 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1947 |
N/A |
INTRINSIC |
|
WD40
|
1955 |
1990 |
5.73e0 |
SMART |
|
WD40
|
1994 |
2033 |
8.88e0 |
SMART |
|
WD40
|
2040 |
2082 |
2.67e-1 |
SMART |
|
WD40
|
2088 |
2127 |
2.57e-2 |
SMART |
|
WD40
|
2130 |
2169 |
3.61e-6 |
SMART |
|
WD40
|
2182 |
2220 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123709
|
| SMART Domains |
Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
WD40
|
187 |
231 |
1.15e1 |
SMART |
|
WD40
|
438 |
475 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
632 |
1105 |
9.1e-72 |
PFAM |
|
low complexity region
|
1180 |
1195 |
N/A |
INTRINSIC |
|
coiled coil region
|
1319 |
1347 |
N/A |
INTRINSIC |
|
low complexity region
|
1391 |
1406 |
N/A |
INTRINSIC |
|
low complexity region
|
1453 |
1468 |
N/A |
INTRINSIC |
|
low complexity region
|
1674 |
1692 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1947 |
N/A |
INTRINSIC |
|
WD40
|
1955 |
1990 |
5.73e0 |
SMART |
|
WD40
|
1994 |
2033 |
8.88e0 |
SMART |
|
WD40
|
2040 |
2082 |
2.67e-1 |
SMART |
|
WD40
|
2088 |
2127 |
2.57e-2 |
SMART |
|
WD40
|
2130 |
2169 |
3.61e-6 |
SMART |
|
WD40
|
2182 |
2220 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123709
|
| SMART Domains |
Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
WD40
|
187 |
231 |
1.15e1 |
SMART |
|
WD40
|
438 |
475 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
632 |
1105 |
9.1e-72 |
PFAM |
|
low complexity region
|
1180 |
1195 |
N/A |
INTRINSIC |
|
coiled coil region
|
1319 |
1347 |
N/A |
INTRINSIC |
|
low complexity region
|
1391 |
1406 |
N/A |
INTRINSIC |
|
low complexity region
|
1453 |
1468 |
N/A |
INTRINSIC |
|
low complexity region
|
1674 |
1692 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1947 |
N/A |
INTRINSIC |
|
WD40
|
1955 |
1990 |
5.73e0 |
SMART |
|
WD40
|
1994 |
2033 |
8.88e0 |
SMART |
|
WD40
|
2040 |
2082 |
2.67e-1 |
SMART |
|
WD40
|
2088 |
2127 |
2.57e-2 |
SMART |
|
WD40
|
2130 |
2169 |
3.61e-6 |
SMART |
|
WD40
|
2182 |
2220 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123709
|
| SMART Domains |
Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
WD40
|
187 |
231 |
1.15e1 |
SMART |
|
WD40
|
438 |
475 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
632 |
1105 |
9.1e-72 |
PFAM |
|
low complexity region
|
1180 |
1195 |
N/A |
INTRINSIC |
|
coiled coil region
|
1319 |
1347 |
N/A |
INTRINSIC |
|
low complexity region
|
1391 |
1406 |
N/A |
INTRINSIC |
|
low complexity region
|
1453 |
1468 |
N/A |
INTRINSIC |
|
low complexity region
|
1674 |
1692 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1947 |
N/A |
INTRINSIC |
|
WD40
|
1955 |
1990 |
5.73e0 |
SMART |
|
WD40
|
1994 |
2033 |
8.88e0 |
SMART |
|
WD40
|
2040 |
2082 |
2.67e-1 |
SMART |
|
WD40
|
2088 |
2127 |
2.57e-2 |
SMART |
|
WD40
|
2130 |
2169 |
3.61e-6 |
SMART |
|
WD40
|
2182 |
2220 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123709
|
| SMART Domains |
Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
WD40
|
187 |
231 |
1.15e1 |
SMART |
|
WD40
|
438 |
475 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
632 |
1105 |
9.1e-72 |
PFAM |
|
low complexity region
|
1180 |
1195 |
N/A |
INTRINSIC |
|
coiled coil region
|
1319 |
1347 |
N/A |
INTRINSIC |
|
low complexity region
|
1391 |
1406 |
N/A |
INTRINSIC |
|
low complexity region
|
1453 |
1468 |
N/A |
INTRINSIC |
|
low complexity region
|
1674 |
1692 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1947 |
N/A |
INTRINSIC |
|
WD40
|
1955 |
1990 |
5.73e0 |
SMART |
|
WD40
|
1994 |
2033 |
8.88e0 |
SMART |
|
WD40
|
2040 |
2082 |
2.67e-1 |
SMART |
|
WD40
|
2088 |
2127 |
2.57e-2 |
SMART |
|
WD40
|
2130 |
2169 |
3.61e-6 |
SMART |
|
WD40
|
2182 |
2220 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123709
|
| SMART Domains |
Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
WD40
|
187 |
231 |
1.15e1 |
SMART |
|
WD40
|
438 |
475 |
2.84e2 |
SMART |
|
Pfam:Rav1p_C
|
632 |
1105 |
9.1e-72 |
PFAM |
|
low complexity region
|
1180 |
1195 |
N/A |
INTRINSIC |
|
coiled coil region
|
1319 |
1347 |
N/A |
INTRINSIC |
|
low complexity region
|
1391 |
1406 |
N/A |
INTRINSIC |
|
low complexity region
|
1453 |
1468 |
N/A |
INTRINSIC |
|
low complexity region
|
1674 |
1692 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1947 |
N/A |
INTRINSIC |
|
WD40
|
1955 |
1990 |
5.73e0 |
SMART |
|
WD40
|
1994 |
2033 |
8.88e0 |
SMART |
|
WD40
|
2040 |
2082 |
2.67e-1 |
SMART |
|
WD40
|
2088 |
2127 |
2.57e-2 |
SMART |
|
WD40
|
2130 |
2169 |
3.61e-6 |
SMART |
|
WD40
|
2182 |
2220 |
8.25e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127880
|
| SMART Domains |
Protein: ENSMUSP00000122293
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD40
|
1 |
24 |
7.9e-4 |
PFAM |
|
WD40
|
47 |
95 |
1.03e-1 |
SMART |
|
low complexity region
|
246 |
266 |
N/A |
INTRINSIC |
|
WD40
|
567 |
619 |
1.42e2 |
SMART |
|
low complexity region
|
687 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
787 |
N/A |
INTRINSIC |
|
WD40
|
811 |
855 |
1.15e1 |
SMART |
|
WD40
|
1062 |
1099 |
2.84e2 |
SMART |
|
low complexity region
|
1252 |
1262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127880
|
| SMART Domains |
Protein: ENSMUSP00000122293
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD40
|
1 |
24 |
7.9e-4 |
PFAM |
|
WD40
|
47 |
95 |
1.03e-1 |
SMART |
|
low complexity region
|
246 |
266 |
N/A |
INTRINSIC |
|
WD40
|
567 |
619 |
1.42e2 |
SMART |
|
low complexity region
|
687 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
787 |
N/A |
INTRINSIC |
|
WD40
|
811 |
855 |
1.15e1 |
SMART |
|
WD40
|
1062 |
1099 |
2.84e2 |
SMART |
|
low complexity region
|
1252 |
1262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127880
|
| SMART Domains |
Protein: ENSMUSP00000122293
Gene: ENSMUSG00000041268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD40
|
1 |
24 |
7.9e-4 |
PFAM |
|
WD40
|
47 |
95 |
1.03e-1 |
SMART |
|
low complexity region
|
246 |
266 |
N/A |
INTRINSIC |
|
WD40
|
567 |
619 |
1.42e2 |
SMART |
|
low complexity region
|
687 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
787 |
N/A |
INTRINSIC |
|
WD40
|
811 |
855 |
1.15e1 |
SMART |
|
WD40
|
1062 |
1099 |
2.84e2 |
SMART |
|
low complexity region
|
1252 |
1262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144736
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(2) Gene trapped(2)
|
| Other mutations in this stock |
Total: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
C |
4: 144,349,364 (GRCm39) |
V207A |
probably benign |
Het |
| Abcc10 |
C |
A |
17: 46,614,834 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
A |
C |
6: 142,634,742 (GRCm39) |
V174G |
possibly damaging |
Het |
| Abl1 |
C |
T |
2: 31,669,086 (GRCm39) |
A155V |
probably damaging |
Het |
| Aco2 |
T |
A |
15: 81,787,787 (GRCm39) |
D212E |
probably damaging |
Het |
| Adam26b |
A |
T |
8: 43,973,529 (GRCm39) |
M491K |
probably benign |
Het |
| Anapc5 |
G |
A |
5: 122,929,988 (GRCm39) |
|
probably benign |
Het |
| Atf7 |
A |
G |
15: 102,471,757 (GRCm39) |
I46T |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,497,612 (GRCm39) |
S2100P |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,775,137 (GRCm39) |
D501V |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,866,433 (GRCm39) |
M748V |
probably damaging |
Het |
| Cd300c2 |
T |
C |
11: 114,891,662 (GRCm39) |
T71A |
probably damaging |
Het |
| Chmp2a |
T |
C |
7: 12,767,758 (GRCm39) |
M56V |
probably benign |
Het |
| Cilp |
A |
C |
9: 65,187,515 (GRCm39) |
R1203S |
probably benign |
Het |
| Clp1 |
T |
A |
2: 84,556,322 (GRCm39) |
K53* |
probably null |
Het |
| Crhbp |
T |
A |
13: 95,578,737 (GRCm39) |
D128V |
probably damaging |
Het |
| Crispld1 |
T |
A |
1: 17,820,495 (GRCm39) |
I292N |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,677,526 (GRCm39) |
I488N |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,456 (GRCm39) |
M149L |
probably benign |
Het |
| Ddx24 |
T |
A |
12: 103,390,547 (GRCm39) |
Q59L |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 166,871,439 (GRCm39) |
H512R |
possibly damaging |
Het |
| Dlgap4 |
T |
A |
2: 156,604,821 (GRCm39) |
*993K |
probably null |
Het |
| Dus4l |
A |
T |
12: 31,696,712 (GRCm39) |
F88L |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,904,071 (GRCm39) |
V176E |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,288,219 (GRCm39) |
K435* |
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,816,908 (GRCm39) |
C4214R |
probably benign |
Het |
| Garin5a |
T |
G |
7: 44,150,428 (GRCm39) |
S207A |
probably damaging |
Het |
| Gfral |
T |
C |
9: 76,072,087 (GRCm39) |
*394W |
probably null |
Het |
| Glis1 |
T |
C |
4: 107,476,832 (GRCm39) |
S518P |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,430,079 (GRCm39) |
|
probably null |
Het |
| Hsbp1l1 |
T |
C |
18: 80,278,679 (GRCm39) |
T35A |
possibly damaging |
Het |
| Ighv5-12 |
A |
G |
12: 113,665,837 (GRCm39) |
F87S |
probably damaging |
Het |
| Ints13 |
A |
C |
6: 146,477,855 (GRCm39) |
D31E |
probably damaging |
Het |
| Kbtbd12 |
C |
T |
6: 88,595,609 (GRCm39) |
D74N |
probably damaging |
Het |
| Klrb1c |
A |
G |
6: 128,765,877 (GRCm39) |
|
probably benign |
Het |
| Kmt5b |
A |
T |
19: 3,836,538 (GRCm39) |
H25L |
probably benign |
Het |
| Krt28 |
A |
T |
11: 99,262,210 (GRCm39) |
M260K |
probably damaging |
Het |
| Krt79 |
A |
G |
15: 101,838,220 (GRCm39) |
S512P |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,075,293 (GRCm39) |
|
probably null |
Het |
| Maneal |
T |
C |
4: 124,750,937 (GRCm39) |
E273G |
possibly damaging |
Het |
| Map4k3 |
T |
A |
17: 80,971,427 (GRCm39) |
Y80F |
possibly damaging |
Het |
| Mbd6 |
A |
G |
10: 127,119,297 (GRCm39) |
V946A |
possibly damaging |
Het |
| Mfsd14b |
A |
T |
13: 65,219,936 (GRCm39) |
|
probably null |
Het |
| Mrpl46 |
C |
G |
7: 78,430,242 (GRCm39) |
W176S |
probably damaging |
Het |
| Muc19 |
A |
G |
15: 91,768,468 (GRCm39) |
|
noncoding transcript |
Het |
| Mup3 |
T |
G |
4: 62,002,809 (GRCm39) |
E184A |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,781,911 (GRCm39) |
H1699R |
probably benign |
Het |
| Ndrg2 |
T |
A |
14: 52,144,420 (GRCm39) |
T269S |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,693,037 (GRCm39) |
V688D |
probably benign |
Het |
| Ninj2 |
T |
C |
6: 120,175,670 (GRCm39) |
I101T |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,523,468 (GRCm39) |
M671L |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,224,510 (GRCm39) |
L296I |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,983 (GRCm39) |
L28P |
probably benign |
Het |
| Or52r1b |
G |
T |
7: 102,691,517 (GRCm39) |
R272L |
possibly damaging |
Het |
| Pacsin1 |
T |
A |
17: 27,927,022 (GRCm39) |
D242E |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,330,420 (GRCm39) |
Y861C |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,153,443 (GRCm39) |
L54P |
probably damaging |
Het |
| Pcdhb18 |
T |
A |
18: 37,624,853 (GRCm39) |
S728T |
probably benign |
Het |
| Phyhd1 |
T |
A |
2: 30,167,022 (GRCm39) |
H108Q |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,212,513 (GRCm39) |
I1035F |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,735,309 (GRCm39) |
S217P |
possibly damaging |
Het |
| Plppr2 |
G |
A |
9: 21,852,425 (GRCm39) |
R103H |
probably damaging |
Het |
| Plxnb2 |
G |
A |
15: 89,041,638 (GRCm39) |
T1722I |
probably damaging |
Het |
| Pole3 |
T |
C |
4: 62,442,668 (GRCm39) |
N53S |
probably damaging |
Het |
| Ptk6 |
A |
T |
2: 180,841,488 (GRCm39) |
N140K |
possibly damaging |
Het |
| Rab12 |
C |
T |
17: 66,804,418 (GRCm39) |
R180H |
probably damaging |
Het |
| Rab36 |
G |
T |
10: 74,888,311 (GRCm39) |
V252L |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 57,008,543 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 79,011,308 (GRCm39) |
L259P |
probably damaging |
Het |
| Rigi |
T |
A |
4: 40,222,140 (GRCm39) |
M380L |
probably benign |
Het |
| Scaf4 |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
16: 90,026,745 (GRCm39) |
|
probably benign |
Het |
| Scd2 |
T |
C |
19: 44,288,142 (GRCm39) |
F178S |
probably damaging |
Het |
| Shmt2 |
A |
G |
10: 127,356,250 (GRCm39) |
S87P |
probably damaging |
Het |
| Slf1 |
T |
A |
13: 77,194,823 (GRCm39) |
D834V |
probably damaging |
Het |
| Sorcs2 |
A |
C |
5: 36,203,874 (GRCm39) |
Y540* |
probably null |
Het |
| Srpk2 |
T |
A |
5: 23,730,697 (GRCm39) |
Q274L |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,031,901 (GRCm39) |
M271K |
possibly damaging |
Het |
| Tfec |
T |
A |
6: 16,867,592 (GRCm39) |
Q16L |
possibly damaging |
Het |
| Tfg |
T |
C |
16: 56,521,450 (GRCm39) |
T63A |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,339,715 (GRCm39) |
|
probably null |
Het |
| Ticrr |
T |
A |
7: 79,345,044 (GRCm39) |
C1636* |
probably null |
Het |
| Tln2 |
A |
G |
9: 67,219,147 (GRCm39) |
I266T |
probably damaging |
Het |
| Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,065,777 (GRCm39) |
E138G |
probably damaging |
Het |
| Tpm2 |
C |
A |
4: 43,522,692 (GRCm39) |
E75* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,580,922 (GRCm39) |
T23324P |
probably damaging |
Het |
| Ubr4 |
T |
G |
4: 139,119,349 (GRCm39) |
L176R |
probably damaging |
Het |
| Uhrf2 |
G |
T |
19: 30,016,488 (GRCm39) |
D46Y |
probably damaging |
Het |
| Ulbp1 |
A |
C |
10: 7,423,281 (GRCm39) |
S21A |
unknown |
Het |
| Usp17lb |
C |
T |
7: 104,490,415 (GRCm39) |
G170R |
probably damaging |
Het |
| Utp15 |
T |
C |
13: 98,394,433 (GRCm39) |
N153S |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,836,790 (GRCm39) |
E2918V |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,919 (GRCm39) |
I195K |
probably damaging |
Het |
| Vmn1r76 |
C |
T |
7: 11,665,062 (GRCm39) |
V16I |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,250,880 (GRCm39) |
D24G |
possibly damaging |
Het |
| Xylb |
T |
A |
9: 119,190,198 (GRCm39) |
H68Q |
probably benign |
Het |
|
| Other mutations in Dmxl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Dmxl2
|
APN |
9 |
54,308,988 (GRCm39) |
missense |
probably benign |
|
|
IGL00226:Dmxl2
|
APN |
9 |
54,323,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00419:Dmxl2
|
APN |
9 |
54,313,951 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00551:Dmxl2
|
APN |
9 |
54,358,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00765:Dmxl2
|
APN |
9 |
54,322,706 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00852:Dmxl2
|
APN |
9 |
54,330,597 (GRCm39) |
nonsense |
probably null |
|
|
IGL00857:Dmxl2
|
APN |
9 |
54,283,604 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00952:Dmxl2
|
APN |
9 |
54,324,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01139:Dmxl2
|
APN |
9 |
54,366,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01346:Dmxl2
|
APN |
9 |
54,322,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Dmxl2
|
APN |
9 |
54,352,660 (GRCm39) |
splice site |
probably benign |
|
|
IGL01645:Dmxl2
|
APN |
9 |
54,286,017 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02096:Dmxl2
|
APN |
9 |
54,308,349 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02104:Dmxl2
|
APN |
9 |
54,311,299 (GRCm39) |
nonsense |
probably null |
|
|
IGL02145:Dmxl2
|
APN |
9 |
54,281,981 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02210:Dmxl2
|
APN |
9 |
54,311,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02238:Dmxl2
|
APN |
9 |
54,352,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02255:Dmxl2
|
APN |
9 |
54,301,052 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02364:Dmxl2
|
APN |
9 |
54,301,127 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02423:Dmxl2
|
APN |
9 |
54,301,032 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02440:Dmxl2
|
APN |
9 |
54,313,899 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02546:Dmxl2
|
APN |
9 |
54,273,698 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02668:Dmxl2
|
APN |
9 |
54,324,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03229:Dmxl2
|
APN |
9 |
54,311,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03244:Dmxl2
|
APN |
9 |
54,323,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03277:Dmxl2
|
APN |
9 |
54,311,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03399:Dmxl2
|
APN |
9 |
54,353,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB003:Dmxl2
|
UTSW |
9 |
54,335,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB013:Dmxl2
|
UTSW |
9 |
54,335,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
I2288:Dmxl2
|
UTSW |
9 |
54,309,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0014:Dmxl2
|
UTSW |
9 |
54,309,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Dmxl2
|
UTSW |
9 |
54,286,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Dmxl2
|
UTSW |
9 |
54,307,224 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0432:Dmxl2
|
UTSW |
9 |
54,324,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0436:Dmxl2
|
UTSW |
9 |
54,291,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Dmxl2
|
UTSW |
9 |
54,301,120 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0603:Dmxl2
|
UTSW |
9 |
54,313,190 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0605:Dmxl2
|
UTSW |
9 |
54,327,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0625:Dmxl2
|
UTSW |
9 |
54,289,986 (GRCm39) |
missense |
probably benign |
|
|
R0626:Dmxl2
|
UTSW |
9 |
54,323,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0736:Dmxl2
|
UTSW |
9 |
54,286,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0847:Dmxl2
|
UTSW |
9 |
54,313,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0855:Dmxl2
|
UTSW |
9 |
54,273,724 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0962:Dmxl2
|
UTSW |
9 |
54,353,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1015:Dmxl2
|
UTSW |
9 |
54,275,049 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1084:Dmxl2
|
UTSW |
9 |
54,323,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1328:Dmxl2
|
UTSW |
9 |
54,303,533 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1401:Dmxl2
|
UTSW |
9 |
54,322,712 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1503:Dmxl2
|
UTSW |
9 |
54,354,272 (GRCm39) |
nonsense |
probably null |
|
|
R1609:Dmxl2
|
UTSW |
9 |
54,316,547 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1613:Dmxl2
|
UTSW |
9 |
54,289,311 (GRCm39) |
missense |
probably benign |
|
|
R1660:Dmxl2
|
UTSW |
9 |
54,358,314 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1712:Dmxl2
|
UTSW |
9 |
54,308,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1772:Dmxl2
|
UTSW |
9 |
54,330,508 (GRCm39) |
splice site |
probably benign |
|
|
R1832:Dmxl2
|
UTSW |
9 |
54,368,233 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1922:Dmxl2
|
UTSW |
9 |
54,308,807 (GRCm39) |
missense |
probably benign |
|
|
R2104:Dmxl2
|
UTSW |
9 |
54,322,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:Dmxl2
|
UTSW |
9 |
54,301,097 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2145:Dmxl2
|
UTSW |
9 |
54,323,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2199:Dmxl2
|
UTSW |
9 |
54,283,527 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2352:Dmxl2
|
UTSW |
9 |
54,301,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Dmxl2
|
UTSW |
9 |
54,307,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2981:Dmxl2
|
UTSW |
9 |
54,300,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Dmxl2
|
UTSW |
9 |
54,384,745 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3625:Dmxl2
|
UTSW |
9 |
54,300,927 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3725:Dmxl2
|
UTSW |
9 |
54,301,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3787:Dmxl2
|
UTSW |
9 |
54,277,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4002:Dmxl2
|
UTSW |
9 |
54,381,116 (GRCm39) |
splice site |
probably benign |
|
|
R4004:Dmxl2
|
UTSW |
9 |
54,353,674 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4005:Dmxl2
|
UTSW |
9 |
54,353,674 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4012:Dmxl2
|
UTSW |
9 |
54,286,297 (GRCm39) |
splice site |
probably null |
|
|
R4014:Dmxl2
|
UTSW |
9 |
54,285,993 (GRCm39) |
splice site |
probably null |
|
|
R4115:Dmxl2
|
UTSW |
9 |
54,354,272 (GRCm39) |
nonsense |
probably null |
|
|
R4232:Dmxl2
|
UTSW |
9 |
54,327,193 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4388:Dmxl2
|
UTSW |
9 |
54,303,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:Dmxl2
|
UTSW |
9 |
54,327,168 (GRCm39) |
missense |
probably null |
0.17 |
|
R4552:Dmxl2
|
UTSW |
9 |
54,359,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Dmxl2
|
UTSW |
9 |
54,353,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Dmxl2
|
UTSW |
9 |
54,311,404 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4694:Dmxl2
|
UTSW |
9 |
54,354,189 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4711:Dmxl2
|
UTSW |
9 |
54,358,208 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4715:Dmxl2
|
UTSW |
9 |
54,353,689 (GRCm39) |
splice site |
probably null |
|
|
R4746:Dmxl2
|
UTSW |
9 |
54,359,080 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4789:Dmxl2
|
UTSW |
9 |
54,287,099 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4825:Dmxl2
|
UTSW |
9 |
54,311,325 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4911:Dmxl2
|
UTSW |
9 |
54,318,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Dmxl2
|
UTSW |
9 |
54,408,725 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5026:Dmxl2
|
UTSW |
9 |
54,323,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5118:Dmxl2
|
UTSW |
9 |
54,368,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5174:Dmxl2
|
UTSW |
9 |
54,352,768 (GRCm39) |
splice site |
probably null |
|
|
R5288:Dmxl2
|
UTSW |
9 |
54,286,041 (GRCm39) |
missense |
probably benign |
|
|
R5373:Dmxl2
|
UTSW |
9 |
54,276,473 (GRCm39) |
intron |
probably benign |
|
|
R5374:Dmxl2
|
UTSW |
9 |
54,276,473 (GRCm39) |
intron |
probably benign |
|
|
R5385:Dmxl2
|
UTSW |
9 |
54,286,041 (GRCm39) |
missense |
probably benign |
|
|
R5386:Dmxl2
|
UTSW |
9 |
54,286,041 (GRCm39) |
missense |
probably benign |
|
|
R5418:Dmxl2
|
UTSW |
9 |
54,281,935 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5540:Dmxl2
|
UTSW |
9 |
54,301,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5733:Dmxl2
|
UTSW |
9 |
54,283,550 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5758:Dmxl2
|
UTSW |
9 |
54,380,248 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5759:Dmxl2
|
UTSW |
9 |
54,282,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:Dmxl2
|
UTSW |
9 |
54,294,704 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6030:Dmxl2
|
UTSW |
9 |
54,300,957 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6030:Dmxl2
|
UTSW |
9 |
54,300,957 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6041:Dmxl2
|
UTSW |
9 |
54,324,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6174:Dmxl2
|
UTSW |
9 |
54,301,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6278:Dmxl2
|
UTSW |
9 |
54,323,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6307:Dmxl2
|
UTSW |
9 |
54,289,990 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6349:Dmxl2
|
UTSW |
9 |
54,327,193 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6404:Dmxl2
|
UTSW |
9 |
54,282,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Dmxl2
|
UTSW |
9 |
54,323,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6712:Dmxl2
|
UTSW |
9 |
54,318,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Dmxl2
|
UTSW |
9 |
54,323,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Dmxl2
|
UTSW |
9 |
54,323,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Dmxl2
|
UTSW |
9 |
54,323,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Dmxl2
|
UTSW |
9 |
54,316,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Dmxl2
|
UTSW |
9 |
54,387,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6920:Dmxl2
|
UTSW |
9 |
54,379,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6979:Dmxl2
|
UTSW |
9 |
54,358,163 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7147:Dmxl2
|
UTSW |
9 |
54,324,013 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7327:Dmxl2
|
UTSW |
9 |
54,308,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Dmxl2
|
UTSW |
9 |
54,273,916 (GRCm39) |
splice site |
probably null |
|
|
R7526:Dmxl2
|
UTSW |
9 |
54,308,241 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7569:Dmxl2
|
UTSW |
9 |
54,323,271 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7622:Dmxl2
|
UTSW |
9 |
54,379,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7638:Dmxl2
|
UTSW |
9 |
54,365,078 (GRCm39) |
missense |
unknown |
|
|
R7703:Dmxl2
|
UTSW |
9 |
54,368,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7768:Dmxl2
|
UTSW |
9 |
54,288,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7926:Dmxl2
|
UTSW |
9 |
54,335,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7969:Dmxl2
|
UTSW |
9 |
54,354,165 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8007:Dmxl2
|
UTSW |
9 |
54,290,975 (GRCm39) |
nonsense |
probably null |
|
|
R8200:Dmxl2
|
UTSW |
9 |
54,387,630 (GRCm39) |
missense |
probably benign |
|
|
R8311:Dmxl2
|
UTSW |
9 |
54,354,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8320:Dmxl2
|
UTSW |
9 |
54,291,043 (GRCm39) |
missense |
probably benign |
|
|
R8377:Dmxl2
|
UTSW |
9 |
54,286,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8400:Dmxl2
|
UTSW |
9 |
54,291,037 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8509:Dmxl2
|
UTSW |
9 |
54,335,341 (GRCm39) |
nonsense |
probably null |
|
|
R8698:Dmxl2
|
UTSW |
9 |
54,281,953 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8768:Dmxl2
|
UTSW |
9 |
54,301,105 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8770:Dmxl2
|
UTSW |
9 |
54,311,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8799:Dmxl2
|
UTSW |
9 |
54,327,027 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8840:Dmxl2
|
UTSW |
9 |
54,309,139 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8898:Dmxl2
|
UTSW |
9 |
54,308,941 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8954:Dmxl2
|
UTSW |
9 |
54,381,156 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9083:Dmxl2
|
UTSW |
9 |
54,316,548 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9114:Dmxl2
|
UTSW |
9 |
54,307,321 (GRCm39) |
missense |
|
|
|
R9115:Dmxl2
|
UTSW |
9 |
54,309,011 (GRCm39) |
missense |
probably benign |
|
|
R9263:Dmxl2
|
UTSW |
9 |
54,358,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9272:Dmxl2
|
UTSW |
9 |
54,311,404 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9577:Dmxl2
|
UTSW |
9 |
54,323,664 (GRCm39) |
missense |
unknown |
|
|
R9673:Dmxl2
|
UTSW |
9 |
54,294,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Dmxl2
|
UTSW |
9 |
54,323,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9726:Dmxl2
|
UTSW |
9 |
54,322,996 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9797:Dmxl2
|
UTSW |
9 |
54,358,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0064:Dmxl2
|
UTSW |
9 |
54,308,997 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Dmxl2
|
UTSW |
9 |
54,289,318 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCTTCATAGAAGCAGGGG -3'
(R):5'- GTTGTGAATCCACCATGATTCCC -3'
Sequencing Primer
(F):5'- ACTGGGAAAGGGGATAACATTTG -3'
(R):5'- GTGAATCCACCATGATTCCCTTATC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation