Incidental Mutation 'R4355:Wdr62'
| ID |
327490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr62
|
| Ensembl Gene |
ENSMUSG00000037020 |
| Gene Name |
WD repeat domain 62 |
| Synonyms |
2310038K02Rik |
| MMRRC Submission |
041108-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4355 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29939563-29979844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 29941673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 1141
(L1141R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108190]
[ENSMUST00000134570]
[ENSMUST00000145027]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108190
AA Change: L1141R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: L1141R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
53 |
N/A |
INTRINSIC |
|
WD40
|
101 |
142 |
4.24e-3 |
SMART |
|
WD40
|
145 |
186 |
1.03e-1 |
SMART |
|
WD40
|
189 |
226 |
7.4e0 |
SMART |
|
WD40
|
284 |
322 |
3.55e1 |
SMART |
|
WD40
|
353 |
388 |
1.85e0 |
SMART |
|
WD40
|
395 |
442 |
2.98e-1 |
SMART |
|
WD40
|
482 |
521 |
2.77e-1 |
SMART |
|
WD40
|
524 |
566 |
2.3e0 |
SMART |
|
WD40
|
570 |
610 |
4.18e-2 |
SMART |
|
WD40
|
615 |
657 |
1.54e0 |
SMART |
|
WD40
|
660 |
702 |
8.49e-3 |
SMART |
|
WD40
|
705 |
744 |
3.61e-6 |
SMART |
|
low complexity region
|
763 |
768 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1215 |
1226 |
N/A |
INTRINSIC |
|
low complexity region
|
1302 |
1313 |
N/A |
INTRINSIC |
|
low complexity region
|
1477 |
1497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133347
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134570
AA Change: L670R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: L670R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
36 |
75 |
2.77e-1 |
SMART |
|
WD40
|
78 |
120 |
2.3e0 |
SMART |
|
WD40
|
124 |
164 |
4.18e-2 |
SMART |
|
WD40
|
169 |
211 |
1.54e0 |
SMART |
|
WD40
|
214 |
256 |
8.49e-3 |
SMART |
|
WD40
|
259 |
298 |
3.61e-6 |
SMART |
|
low complexity region
|
317 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1026 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145027
|
| SMART Domains |
Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
53 |
N/A |
INTRINSIC |
|
WD40
|
101 |
142 |
4.24e-3 |
SMART |
|
WD40
|
145 |
186 |
1.03e-1 |
SMART |
|
WD40
|
189 |
226 |
7.4e0 |
SMART |
|
WD40
|
284 |
322 |
3.55e1 |
SMART |
|
WD40
|
353 |
388 |
1.85e0 |
SMART |
|
WD40
|
395 |
442 |
2.98e-1 |
SMART |
|
WD40
|
482 |
521 |
2.77e-1 |
SMART |
|
WD40
|
524 |
566 |
2.3e0 |
SMART |
|
WD40
|
570 |
610 |
4.18e-2 |
SMART |
|
WD40
|
615 |
657 |
1.54e0 |
SMART |
|
WD40
|
660 |
702 |
8.49e-3 |
SMART |
|
WD40
|
705 |
744 |
3.61e-6 |
SMART |
|
low complexity region
|
763 |
768 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152543
|
| Meta Mutation Damage Score |
0.2403 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice for a hypomorphic allele exhibit reduced brain size due to decreased neural progenitor cells. Cells show spindle instability, spindle assembly checkpoint activation, mitotic arrest and cell death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
G |
8: 44,023,222 (GRCm39) |
Q89H |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,415,511 (GRCm39) |
F697S |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,544,788 (GRCm39) |
V769E |
probably damaging |
Het |
| Aldh7a1 |
A |
T |
18: 56,681,566 (GRCm39) |
F173L |
probably null |
Het |
| Bcl3 |
G |
T |
7: 19,545,505 (GRCm39) |
C208* |
probably null |
Het |
| Bmal1 |
A |
G |
7: 112,902,613 (GRCm39) |
I421V |
possibly damaging |
Het |
| Casz1 |
T |
C |
4: 149,036,792 (GRCm39) |
S1685P |
unknown |
Het |
| Cep250 |
A |
G |
2: 155,833,445 (GRCm39) |
E1789G |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,759,710 (GRCm39) |
D334E |
probably benign |
Het |
| Clca3b |
A |
T |
3: 144,531,219 (GRCm39) |
|
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,248,271 (GRCm39) |
S208G |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 134,998,468 (GRCm39) |
V388A |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,599,333 (GRCm39) |
A1896V |
possibly damaging |
Het |
| Eif2ak2 |
T |
A |
17: 79,165,963 (GRCm39) |
R411S |
probably benign |
Het |
| F7 |
A |
G |
8: 13,084,774 (GRCm39) |
T267A |
probably benign |
Het |
| Fras1 |
C |
A |
5: 96,848,101 (GRCm39) |
D1770E |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,412,120 (GRCm39) |
Y387N |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,256,729 (GRCm39) |
L1491F |
probably damaging |
Het |
| Ighv3-4 |
T |
C |
12: 114,217,260 (GRCm39) |
I110M |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,665,367 (GRCm39) |
C28S |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,472,342 (GRCm39) |
N132S |
probably benign |
Het |
| Kbtbd11 |
C |
A |
8: 15,078,578 (GRCm39) |
N392K |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,309,189 (GRCm39) |
S80P |
possibly damaging |
Het |
| Kif21a |
C |
T |
15: 90,855,036 (GRCm39) |
C721Y |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klrc3 |
T |
C |
6: 129,616,125 (GRCm39) |
M189V |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,368,884 (GRCm39) |
E394V |
possibly damaging |
Het |
| Mrgprb4 |
C |
T |
7: 47,848,449 (GRCm39) |
G160R |
possibly damaging |
Het |
| Myb |
A |
G |
10: 21,028,516 (GRCm39) |
S116P |
probably damaging |
Het |
| Nf2 |
G |
A |
11: 4,730,613 (GRCm39) |
Q513* |
probably null |
Het |
| Nmnat3 |
C |
T |
9: 98,292,205 (GRCm39) |
T150M |
possibly damaging |
Het |
| Obi1 |
A |
G |
14: 104,716,693 (GRCm39) |
V560A |
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,216 (GRCm39) |
C116R |
possibly damaging |
Het |
| Or12k8 |
C |
A |
2: 36,974,942 (GRCm39) |
V273F |
probably benign |
Het |
| Patj |
T |
G |
4: 98,538,691 (GRCm39) |
C210W |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,015,522 (GRCm39) |
H246R |
probably benign |
Het |
| Pnp2 |
A |
G |
14: 51,197,082 (GRCm39) |
H56R |
probably benign |
Het |
| Prkg1 |
A |
G |
19: 30,546,629 (GRCm39) |
|
probably benign |
Het |
| Rhbdf1 |
C |
T |
11: 32,166,236 (GRCm39) |
S8N |
probably damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,027,556 (GRCm39) |
K327E |
possibly damaging |
Het |
| Rsph6a |
T |
A |
7: 18,801,003 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,664,698 (GRCm39) |
N3535S |
probably benign |
Het |
| Ston1 |
T |
G |
17: 88,944,436 (GRCm39) |
V614G |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,138,695 (GRCm39) |
T466S |
possibly damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,957,144 (GRCm39) |
I262N |
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,256,596 (GRCm39) |
|
probably benign |
Het |
| Tshz2 |
G |
A |
2: 169,726,858 (GRCm39) |
E16K |
possibly damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,438,502 (GRCm39) |
S193R |
possibly damaging |
Het |
| Ugt2b5 |
C |
A |
5: 87,287,622 (GRCm39) |
E182* |
probably null |
Het |
| Usp43 |
A |
G |
11: 67,782,290 (GRCm39) |
V376A |
probably benign |
Het |
| Utp15 |
A |
T |
13: 98,395,755 (GRCm39) |
F76I |
possibly damaging |
Het |
| Zfp418 |
T |
A |
7: 7,175,161 (GRCm39) |
M18K |
probably benign |
Het |
|
| Other mutations in Wdr62 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Wdr62
|
APN |
7 |
29,942,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00428:Wdr62
|
APN |
7 |
29,970,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00579:Wdr62
|
APN |
7 |
29,967,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00709:Wdr62
|
APN |
7 |
29,941,486 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00924:Wdr62
|
APN |
7 |
29,942,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00924:Wdr62
|
APN |
7 |
29,964,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00956:Wdr62
|
APN |
7 |
29,960,764 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01016:Wdr62
|
APN |
7 |
29,953,676 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01118:Wdr62
|
APN |
7 |
29,942,206 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01458:Wdr62
|
APN |
7 |
29,941,187 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01977:Wdr62
|
APN |
7 |
29,957,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Wdr62
|
APN |
7 |
29,942,894 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02155:Wdr62
|
APN |
7 |
29,962,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02260:Wdr62
|
APN |
7 |
29,970,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02404:Wdr62
|
APN |
7 |
29,967,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02491:Wdr62
|
APN |
7 |
29,942,184 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02556:Wdr62
|
APN |
7 |
29,944,709 (GRCm39) |
splice site |
probably null |
|
|
IGL02739:Wdr62
|
APN |
7 |
29,941,885 (GRCm39) |
nonsense |
probably null |
|
|
IGL03387:Wdr62
|
APN |
7 |
29,970,199 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
ivoire
|
UTSW |
7 |
29,971,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I0000:Wdr62
|
UTSW |
7 |
29,944,752 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0304:Wdr62
|
UTSW |
7 |
29,942,299 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0371:Wdr62
|
UTSW |
7 |
29,941,583 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0400:Wdr62
|
UTSW |
7 |
29,940,887 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0621:Wdr62
|
UTSW |
7 |
29,953,486 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0634:Wdr62
|
UTSW |
7 |
29,969,599 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1758:Wdr62
|
UTSW |
7 |
29,967,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Wdr62
|
UTSW |
7 |
29,957,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2254:Wdr62
|
UTSW |
7 |
29,967,328 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2255:Wdr62
|
UTSW |
7 |
29,967,328 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2566:Wdr62
|
UTSW |
7 |
29,973,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Wdr62
|
UTSW |
7 |
29,960,862 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3150:Wdr62
|
UTSW |
7 |
29,971,095 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4517:Wdr62
|
UTSW |
7 |
29,969,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Wdr62
|
UTSW |
7 |
29,970,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Wdr62
|
UTSW |
7 |
29,940,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5193:Wdr62
|
UTSW |
7 |
29,964,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5289:Wdr62
|
UTSW |
7 |
29,967,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Wdr62
|
UTSW |
7 |
29,964,688 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5878:Wdr62
|
UTSW |
7 |
29,940,772 (GRCm39) |
missense |
probably benign |
|
|
R5942:Wdr62
|
UTSW |
7 |
29,942,504 (GRCm39) |
nonsense |
probably null |
|
|
R6051:Wdr62
|
UTSW |
7 |
29,960,809 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6237:Wdr62
|
UTSW |
7 |
29,941,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6727:Wdr62
|
UTSW |
7 |
29,971,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7158:Wdr62
|
UTSW |
7 |
29,970,163 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7208:Wdr62
|
UTSW |
7 |
29,951,761 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7237:Wdr62
|
UTSW |
7 |
29,969,869 (GRCm39) |
splice site |
probably null |
|
|
R7336:Wdr62
|
UTSW |
7 |
29,943,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7559:Wdr62
|
UTSW |
7 |
29,970,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7845:Wdr62
|
UTSW |
7 |
29,964,667 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7936:Wdr62
|
UTSW |
7 |
29,964,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8002:Wdr62
|
UTSW |
7 |
29,951,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8347:Wdr62
|
UTSW |
7 |
29,962,128 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8399:Wdr62
|
UTSW |
7 |
29,957,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Wdr62
|
UTSW |
7 |
29,953,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9044:Wdr62
|
UTSW |
7 |
29,962,062 (GRCm39) |
missense |
probably benign |
|
|
R9166:Wdr62
|
UTSW |
7 |
29,941,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Wdr62
|
UTSW |
7 |
29,942,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Wdr62
|
UTSW |
7 |
29,953,466 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1176:Wdr62
|
UTSW |
7 |
29,955,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Wdr62
|
UTSW |
7 |
29,950,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCAAGCACAACTCTTGG -3'
(R):5'- GAGGACTATTTCTTCAATCCCCGG -3'
Sequencing Primer
(F):5'- ACTCTTGGTAAGGACAAGGCCTC -3'
(R):5'- ATCCCCGGCTGAGCATATC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation