Incidental Mutation 'R1530:St18'
| ID |
166511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St18
|
| Ensembl Gene |
ENSMUSG00000033740 |
| Gene Name |
suppression of tumorigenicity 18 |
| Synonyms |
Nzf3, Myt3 |
| MMRRC Submission |
039569-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1530 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
6487231-6860940 bp(+) (GRCm38) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to C
at 6845569 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043578]
[ENSMUST00000043578]
[ENSMUST00000043578]
[ENSMUST00000131494]
[ENSMUST00000131494]
[ENSMUST00000131494]
[ENSMUST00000140079]
[ENSMUST00000140079]
[ENSMUST00000140079]
[ENSMUST00000150761]
[ENSMUST00000150761]
[ENSMUST00000150761]
[ENSMUST00000151281]
[ENSMUST00000151281]
[ENSMUST00000151281]
[ENSMUST00000163727]
[ENSMUST00000163727]
[ENSMUST00000163727]
|
| AlphaFold |
Q80TY4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043578
|
| SMART Domains |
Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
365 |
392 |
7.8e-15 |
PFAM |
|
Pfam:zf-C2HC
|
409 |
437 |
4.2e-17 |
PFAM |
|
Pfam:MYT1
|
476 |
713 |
1.3e-75 |
PFAM |
|
Pfam:zf-C2HC
|
721 |
749 |
4e-19 |
PFAM |
|
Pfam:zf-C2HC
|
765 |
793 |
1.7e-19 |
PFAM |
|
Pfam:zf-C2HC
|
813 |
841 |
1.1e-17 |
PFAM |
|
Pfam:zf-C2HC
|
866 |
893 |
9.1e-15 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000043578
|
| SMART Domains |
Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
365 |
392 |
7.8e-15 |
PFAM |
|
Pfam:zf-C2HC
|
409 |
437 |
4.2e-17 |
PFAM |
|
Pfam:MYT1
|
476 |
713 |
1.3e-75 |
PFAM |
|
Pfam:zf-C2HC
|
721 |
749 |
4e-19 |
PFAM |
|
Pfam:zf-C2HC
|
765 |
793 |
1.7e-19 |
PFAM |
|
Pfam:zf-C2HC
|
813 |
841 |
1.1e-17 |
PFAM |
|
Pfam:zf-C2HC
|
866 |
893 |
9.1e-15 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000043578
|
| SMART Domains |
Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
365 |
392 |
7.8e-15 |
PFAM |
|
Pfam:zf-C2HC
|
409 |
437 |
4.2e-17 |
PFAM |
|
Pfam:MYT1
|
476 |
713 |
1.3e-75 |
PFAM |
|
Pfam:zf-C2HC
|
721 |
749 |
4e-19 |
PFAM |
|
Pfam:zf-C2HC
|
765 |
793 |
1.7e-19 |
PFAM |
|
Pfam:zf-C2HC
|
813 |
841 |
1.1e-17 |
PFAM |
|
Pfam:zf-C2HC
|
866 |
893 |
9.1e-15 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131494
|
| SMART Domains |
Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131494
|
| SMART Domains |
Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131494
|
| SMART Domains |
Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140079
|
| SMART Domains |
Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140079
|
| SMART Domains |
Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140079
|
| SMART Domains |
Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150761
|
| SMART Domains |
Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150761
|
| SMART Domains |
Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150761
|
| SMART Domains |
Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151015
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151281
|
| SMART Domains |
Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151281
|
| SMART Domains |
Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151281
|
| SMART Domains |
Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
363 |
393 |
2.6e-17 |
PFAM |
|
Pfam:zf-C2HC
|
407 |
437 |
1e-18 |
PFAM |
|
Pfam:MYT1
|
476 |
714 |
1.5e-116 |
PFAM |
|
Pfam:zf-C2HC
|
719 |
749 |
1e-19 |
PFAM |
|
Pfam:zf-C2HC
|
763 |
793 |
1.3e-20 |
PFAM |
|
Pfam:zf-C2HC
|
811 |
841 |
8.9e-19 |
PFAM |
|
Pfam:zf-C2HC
|
864 |
894 |
1.3e-16 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163727
|
| SMART Domains |
Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
365 |
392 |
7.8e-15 |
PFAM |
|
Pfam:zf-C2HC
|
409 |
437 |
4.2e-17 |
PFAM |
|
Pfam:MYT1
|
476 |
713 |
1.3e-75 |
PFAM |
|
Pfam:zf-C2HC
|
721 |
749 |
4e-19 |
PFAM |
|
Pfam:zf-C2HC
|
765 |
793 |
1.7e-19 |
PFAM |
|
Pfam:zf-C2HC
|
813 |
841 |
1.1e-17 |
PFAM |
|
Pfam:zf-C2HC
|
866 |
893 |
9.1e-15 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163727
|
| SMART Domains |
Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
365 |
392 |
7.8e-15 |
PFAM |
|
Pfam:zf-C2HC
|
409 |
437 |
4.2e-17 |
PFAM |
|
Pfam:MYT1
|
476 |
713 |
1.3e-75 |
PFAM |
|
Pfam:zf-C2HC
|
721 |
749 |
4e-19 |
PFAM |
|
Pfam:zf-C2HC
|
765 |
793 |
1.7e-19 |
PFAM |
|
Pfam:zf-C2HC
|
813 |
841 |
1.1e-17 |
PFAM |
|
Pfam:zf-C2HC
|
866 |
893 |
9.1e-15 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163727
|
| SMART Domains |
Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
365 |
392 |
7.8e-15 |
PFAM |
|
Pfam:zf-C2HC
|
409 |
437 |
4.2e-17 |
PFAM |
|
Pfam:MYT1
|
476 |
713 |
1.3e-75 |
PFAM |
|
Pfam:zf-C2HC
|
721 |
749 |
4e-19 |
PFAM |
|
Pfam:zf-C2HC
|
765 |
793 |
1.7e-19 |
PFAM |
|
Pfam:zf-C2HC
|
813 |
841 |
1.1e-17 |
PFAM |
|
Pfam:zf-C2HC
|
866 |
893 |
9.1e-15 |
PFAM |
|
coiled coil region
|
918 |
987 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
T |
C |
5: 137,569,378 (GRCm38) |
C425R |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,349,830 (GRCm38) |
S20P |
probably damaging |
Het |
| Adgra3 |
G |
A |
5: 49,961,137 (GRCm38) |
T1023I |
probably benign |
Het |
| Angel2 |
T |
A |
1: 190,939,088 (GRCm38) |
V46E |
probably damaging |
Het |
| Ankrd13c |
T |
A |
3: 157,991,721 (GRCm38) |
M321K |
probably damaging |
Het |
| Atad2b |
C |
T |
12: 4,942,018 (GRCm38) |
R206* |
probably null |
Het |
| Atp10b |
T |
A |
11: 43,197,524 (GRCm38) |
F319Y |
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,400,104 (GRCm38) |
R272G |
probably damaging |
Het |
| BC027072 |
A |
G |
17: 71,749,478 (GRCm38) |
V1068A |
probably benign |
Het |
| Bpi |
T |
A |
2: 158,261,145 (GRCm38) |
I70N |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,524,695 (GRCm38) |
D871G |
probably damaging |
Het |
| Capn3 |
G |
A |
2: 120,482,208 (GRCm38) |
A160T |
probably damaging |
Het |
| Cenpe |
T |
C |
3: 135,246,902 (GRCm38) |
L1451P |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,732,488 (GRCm38) |
M1T |
probably null |
Het |
| Csrnp1 |
G |
C |
9: 119,973,546 (GRCm38) |
Q200E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,819,874 (GRCm38) |
P545S |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,646,543 (GRCm38) |
E107G |
probably benign |
Het |
| Errfi1 |
A |
G |
4: 150,865,386 (GRCm38) |
I49V |
probably benign |
Het |
| Fam160b1 |
T |
A |
19: 57,386,305 (GRCm38) |
I704N |
probably damaging |
Het |
| Fam171b |
T |
C |
2: 83,880,189 (GRCm38) |
L735S |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,092,490 (GRCm38) |
|
probably null |
Het |
| Fbp2 |
G |
C |
13: 62,837,159 (GRCm38) |
P316R |
probably damaging |
Het |
| Fcer2a |
C |
A |
8: 3,682,976 (GRCm38) |
G255V |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,605,308 (GRCm38) |
S193P |
probably benign |
Het |
| Gak |
A |
G |
5: 108,624,193 (GRCm38) |
V86A |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,433,769 (GRCm38) |
I7T |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,327,489 (GRCm38) |
H331R |
probably damaging |
Het |
| Gpr19 |
C |
T |
6: 134,869,998 (GRCm38) |
V241M |
probably damaging |
Het |
| Grk6 |
G |
A |
13: 55,458,799 (GRCm38) |
A437T |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,444,780 (GRCm38) |
D253G |
probably damaging |
Het |
| Ifna9 |
G |
C |
4: 88,592,172 (GRCm38) |
Q72E |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,312,361 (GRCm38) |
T384A |
probably benign |
Het |
| Ip6k1 |
C |
A |
9: 108,045,562 (GRCm38) |
C221* |
probably null |
Het |
| Kcna1 |
C |
A |
6: 126,642,531 (GRCm38) |
E275D |
probably benign |
Het |
| Kcnt2 |
C |
T |
1: 140,484,232 (GRCm38) |
Q468* |
probably null |
Het |
| Kin |
T |
C |
2: 10,092,339 (GRCm38) |
V333A |
probably damaging |
Het |
| Leprot |
G |
T |
4: 101,656,287 (GRCm38) |
V91L |
probably benign |
Het |
| Mettl21c |
A |
G |
1: 44,017,184 (GRCm38) |
|
probably null |
Het |
| Myom2 |
T |
C |
8: 15,122,384 (GRCm38) |
F1161S |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,248,909 (GRCm38) |
L321P |
probably benign |
Het |
| Nipal2 |
A |
T |
15: 34,625,022 (GRCm38) |
*72K |
probably null |
Het |
| Nol3 |
T |
C |
8: 105,279,226 (GRCm38) |
V84A |
probably benign |
Het |
| Olfr1188 |
A |
T |
2: 88,559,483 (GRCm38) |
I5F |
probably benign |
Het |
| Olfr1388 |
C |
T |
11: 49,443,905 (GRCm38) |
S18L |
probably benign |
Het |
| Olfr901 |
T |
C |
9: 38,430,324 (GRCm38) |
I14T |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,189,010 (GRCm38) |
|
probably null |
Het |
| Pik3cb |
T |
C |
9: 99,053,973 (GRCm38) |
D802G |
probably damaging |
Het |
| Plac8l1 |
A |
T |
18: 42,178,931 (GRCm38) |
V141E |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,167,192 (GRCm38) |
S275P |
probably benign |
Het |
| Prl3b1 |
G |
A |
13: 27,243,865 (GRCm38) |
A53T |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,661,183 (GRCm38) |
I959K |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,495,562 (GRCm38) |
K1400R |
probably damaging |
Het |
| Sel1l |
A |
G |
12: 91,826,684 (GRCm38) |
S263P |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,109,913 (GRCm38) |
V34I |
probably damaging |
Het |
| Slc17a2 |
A |
G |
13: 23,819,069 (GRCm38) |
D234G |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,015,671 (GRCm38) |
S934T |
probably damaging |
Het |
| St3gal4 |
T |
C |
9: 35,052,296 (GRCm38) |
I239V |
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,297,412 (GRCm38) |
T399I |
probably damaging |
Het |
| Syt11 |
T |
C |
3: 88,762,367 (GRCm38) |
K6E |
probably damaging |
Het |
| Taf15 |
T |
C |
11: 83,487,296 (GRCm38) |
Y121H |
possibly damaging |
Het |
| Tdh |
T |
C |
14: 63,496,055 (GRCm38) |
Y113C |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,410,688 (GRCm38) |
W406R |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 130,151,282 (GRCm38) |
I563V |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,827,009 (GRCm38) |
|
probably null |
Het |
| Tmub2 |
T |
C |
11: 102,287,486 (GRCm38) |
S72P |
probably benign |
Het |
| Trappc13 |
G |
A |
13: 104,150,143 (GRCm38) |
T202I |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,272,428 (GRCm38) |
E449G |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,912,767 (GRCm38) |
G21V |
unknown |
Het |
| Ttll12 |
G |
A |
15: 83,588,655 (GRCm38) |
R127C |
probably damaging |
Het |
| Vmn2r125 |
A |
T |
4: 156,351,152 (GRCm38) |
Y275F |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,329,944 (GRCm38) |
D319G |
probably damaging |
Het |
| Zc3h14 |
T |
G |
12: 98,785,003 (GRCm38) |
C159W |
probably damaging |
Het |
| Zc3h7b |
C |
T |
15: 81,777,088 (GRCm38) |
P376L |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 108,948,489 (GRCm38) |
P2057L |
probably damaging |
Het |
|
| Other mutations in St18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:St18
|
APN |
1 |
6,802,572 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL00840:St18
|
APN |
1 |
6,833,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01016:St18
|
APN |
1 |
6,844,323 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01116:St18
|
APN |
1 |
6,802,632 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01719:St18
|
APN |
1 |
6,845,796 (GRCm38) |
splice site |
probably benign |
|
|
IGL01885:St18
|
APN |
1 |
6,844,372 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02486:St18
|
APN |
1 |
6,820,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02611:St18
|
APN |
1 |
6,768,890 (GRCm38) |
splice site |
probably benign |
|
|
IGL02742:St18
|
APN |
1 |
6,802,316 (GRCm38) |
splice site |
probably benign |
|
|
IGL02953:St18
|
APN |
1 |
6,844,113 (GRCm38) |
splice site |
probably benign |
|
|
IGL02999:St18
|
APN |
1 |
6,817,605 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03092:St18
|
APN |
1 |
6,768,894 (GRCm38) |
splice site |
probably benign |
|
|
Smallish
|
UTSW |
1 |
6,855,473 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03055:St18
|
UTSW |
1 |
6,802,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0089:St18
|
UTSW |
1 |
6,848,948 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0257:St18
|
UTSW |
1 |
6,819,962 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0383:St18
|
UTSW |
1 |
6,803,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0588:St18
|
UTSW |
1 |
6,817,738 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0989:St18
|
UTSW |
1 |
6,827,881 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1068:St18
|
UTSW |
1 |
6,795,562 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1311:St18
|
UTSW |
1 |
6,845,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1723:St18
|
UTSW |
1 |
6,810,685 (GRCm38) |
splice site |
probably benign |
|
|
R1926:St18
|
UTSW |
1 |
6,802,689 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1927:St18
|
UTSW |
1 |
6,802,712 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2035:St18
|
UTSW |
1 |
6,802,328 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2091:St18
|
UTSW |
1 |
6,827,971 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2139:St18
|
UTSW |
1 |
6,810,615 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2261:St18
|
UTSW |
1 |
6,845,572 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2300:St18
|
UTSW |
1 |
6,855,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2322:St18
|
UTSW |
1 |
6,844,124 (GRCm38) |
nonsense |
probably null |
|
|
R2846:St18
|
UTSW |
1 |
6,845,587 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3738:St18
|
UTSW |
1 |
6,855,473 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3739:St18
|
UTSW |
1 |
6,855,473 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3772:St18
|
UTSW |
1 |
6,844,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3805:St18
|
UTSW |
1 |
6,802,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3953:St18
|
UTSW |
1 |
6,802,893 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4034:St18
|
UTSW |
1 |
6,855,473 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4036:St18
|
UTSW |
1 |
6,827,786 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4407:St18
|
UTSW |
1 |
6,827,837 (GRCm38) |
missense |
probably benign |
0.29 |
|
R4527:St18
|
UTSW |
1 |
6,855,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4740:St18
|
UTSW |
1 |
6,817,604 (GRCm38) |
missense |
probably benign |
|
|
R4838:St18
|
UTSW |
1 |
6,802,905 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5182:St18
|
UTSW |
1 |
6,817,653 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5186:St18
|
UTSW |
1 |
6,802,317 (GRCm38) |
splice site |
probably null |
|
|
R5354:St18
|
UTSW |
1 |
6,844,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5423:St18
|
UTSW |
1 |
6,802,616 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5724:St18
|
UTSW |
1 |
6,770,950 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6182:St18
|
UTSW |
1 |
6,844,118 (GRCm38) |
splice site |
probably null |
|
|
R6491:St18
|
UTSW |
1 |
6,827,985 (GRCm38) |
nonsense |
probably null |
|
|
R6503:St18
|
UTSW |
1 |
6,795,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7037:St18
|
UTSW |
1 |
6,803,036 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7098:St18
|
UTSW |
1 |
6,827,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7132:St18
|
UTSW |
1 |
6,859,127 (GRCm38) |
missense |
|
|
|
R7144:St18
|
UTSW |
1 |
6,833,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7150:St18
|
UTSW |
1 |
6,803,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7334:St18
|
UTSW |
1 |
6,802,559 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7502:St18
|
UTSW |
1 |
6,827,970 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7729:St18
|
UTSW |
1 |
6,802,537 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7848:St18
|
UTSW |
1 |
6,857,445 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8088:St18
|
UTSW |
1 |
6,828,005 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8299:St18
|
UTSW |
1 |
6,802,992 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8338:St18
|
UTSW |
1 |
6,809,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8690:St18
|
UTSW |
1 |
6,802,564 (GRCm38) |
missense |
probably benign |
|
|
R8753:St18
|
UTSW |
1 |
6,845,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8808:St18
|
UTSW |
1 |
6,810,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8880:St18
|
UTSW |
1 |
6,795,395 (GRCm38) |
nonsense |
probably null |
|
|
R9055:St18
|
UTSW |
1 |
6,802,982 (GRCm38) |
nonsense |
probably null |
|
|
R9292:St18
|
UTSW |
1 |
6,827,882 (GRCm38) |
missense |
probably benign |
0.32 |
|
R9322:St18
|
UTSW |
1 |
6,795,523 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9530:St18
|
UTSW |
1 |
6,802,773 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9603:St18
|
UTSW |
1 |
6,845,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9611:St18
|
UTSW |
1 |
6,802,923 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9639:St18
|
UTSW |
1 |
6,859,022 (GRCm38) |
missense |
|
|
|
R9644:St18
|
UTSW |
1 |
6,859,052 (GRCm38) |
missense |
|
|
|
R9740:St18
|
UTSW |
1 |
6,803,063 (GRCm38) |
nonsense |
probably null |
|
|
R9750:St18
|
UTSW |
1 |
6,802,992 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTACAGTCTGCCAGCTCTTAC -3'
(R):5'- GCTTGTTCAGTTTCCAGGAGAGAGG -3'
Sequencing Primer
(F):5'- atacaccaagaccaaaagcaag -3'
(R):5'- GAGAGGTGCCCCATTGAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation