Incidental Mutation 'R2400:AU041133'
| ID |
248658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AU041133
|
| Ensembl Gene |
ENSMUSG00000078435 |
| Gene Name |
expressed sequence AU041133 |
| Synonyms |
|
| MMRRC Submission |
040366-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2400 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81963847-81988899 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 81986742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 132
(K132*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105314]
[ENSMUST00000201286]
|
| AlphaFold |
A0A0J9YVH3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105314
AA Change: K131*
|
| SMART Domains |
Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: K131*
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
65 |
1.77e-15 |
SMART |
|
ZnF_C2H2
|
105 |
127 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
133 |
155 |
3.26e-5 |
SMART |
|
ZnF_C2H2
|
161 |
183 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
189 |
211 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
217 |
239 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
245 |
267 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
273 |
295 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
301 |
323 |
6.99e-5 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
413 |
435 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
441 |
463 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
469 |
491 |
5.99e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201286
AA Change: K132*
|
| SMART Domains |
Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: K132*
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
7.7e-18 |
SMART |
|
ZnF_C2H2
|
106 |
128 |
5e-4 |
SMART |
|
ZnF_C2H2
|
134 |
156 |
1.4e-7 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
5.3e-5 |
SMART |
|
ZnF_C2H2
|
190 |
212 |
3.2e-6 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
1.4e-5 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
5.3e-5 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
2e-5 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
3.1e-7 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
2.6e-5 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
4.5e-5 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
2.8e-6 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
3.9e-5 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
7e-7 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
2.5e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
T |
C |
15: 85,377,566 (GRCm39) |
T133A |
unknown |
Het |
| Adgrl2 |
G |
T |
3: 148,557,570 (GRCm39) |
S519R |
probably damaging |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,615 (GRCm39) |
N222D |
probably damaging |
Het |
| Cep72 |
C |
A |
13: 74,197,096 (GRCm39) |
A69S |
probably damaging |
Het |
| Csn1s2a |
T |
A |
5: 87,928,014 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,900,030 (GRCm39) |
F872I |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,567,845 (GRCm39) |
D746G |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 118,017,210 (GRCm39) |
|
probably null |
Het |
| Fgg |
A |
G |
3: 82,915,494 (GRCm39) |
D37G |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,386,941 (GRCm39) |
S958R |
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,064,330 (GRCm39) |
D640G |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,738,828 (GRCm39) |
T2389K |
possibly damaging |
Het |
| Hmgcl |
C |
A |
4: 135,679,679 (GRCm39) |
|
probably null |
Het |
| Mmp11 |
T |
A |
10: 75,761,344 (GRCm39) |
T419S |
probably benign |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Nkiras1 |
T |
A |
14: 18,280,011 (GRCm38) |
V108E |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,238,245 (GRCm39) |
L22P |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,334,021 (GRCm39) |
Y3077H |
probably damaging |
Het |
| Sec62 |
A |
G |
3: 30,864,681 (GRCm39) |
N182D |
unknown |
Het |
| Serpinb5 |
A |
G |
1: 106,809,682 (GRCm39) |
T363A |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,036,110 (GRCm39) |
S197T |
probably benign |
Het |
| Vmn2r11 |
T |
A |
5: 109,199,928 (GRCm39) |
E508D |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,861 (GRCm39) |
F1376L |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,804,126 (GRCm39) |
S9P |
possibly damaging |
Het |
|
| Other mutations in AU041133 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03403:AU041133
|
APN |
10 |
81,974,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:AU041133
|
UTSW |
10 |
81,986,724 (GRCm39) |
nonsense |
probably null |
|
|
R1924:AU041133
|
UTSW |
10 |
81,987,101 (GRCm39) |
nonsense |
probably null |
|
|
R2211:AU041133
|
UTSW |
10 |
81,986,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3845:AU041133
|
UTSW |
10 |
81,987,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3914:AU041133
|
UTSW |
10 |
81,987,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4214:AU041133
|
UTSW |
10 |
81,987,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4414:AU041133
|
UTSW |
10 |
81,987,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5315:AU041133
|
UTSW |
10 |
81,987,506 (GRCm39) |
nonsense |
probably null |
|
|
R5835:AU041133
|
UTSW |
10 |
81,987,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:AU041133
|
UTSW |
10 |
81,986,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:AU041133
|
UTSW |
10 |
81,987,405 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7127:AU041133
|
UTSW |
10 |
81,986,700 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7200:AU041133
|
UTSW |
10 |
81,986,935 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7228:AU041133
|
UTSW |
10 |
81,987,105 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7828:AU041133
|
UTSW |
10 |
81,987,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8198:AU041133
|
UTSW |
10 |
81,987,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:AU041133
|
UTSW |
10 |
81,987,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9800:AU041133
|
UTSW |
10 |
81,986,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTTATTGCTGTGGAAACATCT -3'
(R):5'- GCAAAGGCTTTACCACATTGGT -3'
Sequencing Primer
(F):5'- TCTCTATAGCACATGTCAAGGGG -3'
(R):5'- CCACATTGGTTACATCCATAGGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation