Incidental Mutation 'R6727:Wdr62'
| ID |
529906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr62
|
| Ensembl Gene |
ENSMUSG00000037020 |
| Gene Name |
WD repeat domain 62 |
| Synonyms |
2310038K02Rik |
| MMRRC Submission |
044845-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6727 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29939563-29979844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29971045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 184
(V184D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108190]
[ENSMUST00000145027]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108190
AA Change: V184D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: V184D
| 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 |
probably damaging
Transcript: ENSMUST00000145027
AA Change: V184D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020
AA Change: V184D
| 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 |
|
| Meta Mutation Damage Score |
0.9727 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
98% (44/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109A12Rik |
A |
G |
5: 93,354,434 (GRCm39) |
|
probably benign |
Het |
| 4930563M21Rik |
C |
T |
9: 55,896,760 (GRCm39) |
V283I |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Allc |
T |
A |
12: 28,607,388 (GRCm39) |
H288L |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,702,576 (GRCm39) |
I279T |
possibly damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,728,857 (GRCm39) |
|
probably benign |
Het |
| Barhl1 |
G |
A |
2: 28,805,495 (GRCm39) |
P66L |
probably benign |
Het |
| Brd8dc |
T |
A |
18: 34,713,894 (GRCm39) |
M244L |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 47,943,856 (GRCm39) |
D352V |
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,781 (GRCm39) |
K122* |
probably null |
Het |
| Dnai1 |
G |
T |
4: 41,625,308 (GRCm39) |
R424L |
probably benign |
Het |
| Dync1li2 |
G |
T |
8: 105,167,167 (GRCm39) |
H79Q |
probably damaging |
Het |
| Fem1b |
A |
G |
9: 62,704,015 (GRCm39) |
V415A |
possibly damaging |
Het |
| Fgb |
C |
T |
3: 82,954,094 (GRCm39) |
S48N |
possibly damaging |
Het |
| Gm5624 |
T |
C |
14: 44,799,332 (GRCm39) |
D31G |
possibly damaging |
Het |
| Gzmn |
T |
A |
14: 56,403,432 (GRCm39) |
I226F |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,622 (GRCm39) |
V284E |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,683,902 (GRCm39) |
S184G |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,193 (GRCm39) |
S272G |
probably damaging |
Het |
| Kcnk16 |
C |
T |
14: 20,312,997 (GRCm39) |
A106T |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,283,984 (GRCm39) |
V876A |
probably damaging |
Het |
| Large2 |
G |
T |
2: 92,201,215 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
A |
T |
9: 13,532,847 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
G |
9: 86,464,851 (GRCm39) |
L533P |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,477,986 (GRCm39) |
|
probably null |
Het |
| Nova2 |
C |
A |
7: 18,692,419 (GRCm39) |
T516K |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,118 (GRCm39) |
N288K |
probably damaging |
Het |
| Or56b1 |
T |
C |
7: 104,285,094 (GRCm39) |
I71T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Ppp2r1a |
T |
A |
17: 21,176,087 (GRCm39) |
V103E |
probably benign |
Het |
| Prl3d3 |
G |
A |
13: 27,341,147 (GRCm39) |
|
probably null |
Het |
| Rhbdf1 |
G |
T |
11: 32,164,042 (GRCm39) |
A288E |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,321,147 (GRCm39) |
S1202P |
possibly damaging |
Het |
| Slc25a17 |
A |
G |
15: 81,222,154 (GRCm39) |
V106A |
probably benign |
Het |
| Slc4a4 |
T |
G |
5: 89,318,624 (GRCm39) |
S640A |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,924,105 (GRCm39) |
Y298N |
probably damaging |
Het |
| Tek |
G |
T |
4: 94,741,732 (GRCm39) |
G830* |
probably null |
Het |
| Tgfb1 |
A |
T |
7: 25,388,587 (GRCm39) |
|
probably benign |
Het |
| Themis |
T |
C |
10: 28,657,903 (GRCm39) |
I157T |
probably damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,514 (GRCm39) |
|
probably benign |
Het |
| Trrap |
T |
C |
5: 144,793,760 (GRCm39) |
W3654R |
probably damaging |
Het |
| Tspan3 |
C |
T |
9: 56,054,724 (GRCm39) |
G108S |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,979 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
G |
15: 35,770,829 (GRCm39) |
K2091E |
probably benign |
Het |
| Zfp958 |
C |
A |
8: 4,678,247 (GRCm39) |
Q90K |
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 |
|
R4355:Wdr62
|
UTSW |
7 |
29,941,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GCTACTCGGTTCCTGATCTG -3'
(R):5'- GCAATAGTAATGGCCTCATCCC -3'
Sequencing Primer
(F):5'- TGTTCCCTATACCAACAGACATGATG -3'
(R):5'- AATAGTAATGGCCTCATCCCCTCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation