Incidental Mutation 'R7158:Wdr62'
| ID |
557435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr62
|
| Ensembl Gene |
ENSMUSG00000037020 |
| Gene Name |
WD repeat domain 62 |
| Synonyms |
2310038K02Rik |
| MMRRC Submission |
045329-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7158 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29939563-29979844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29970163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 215
(V215I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108190]
[ENSMUST00000145027]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108190
AA Change: V215I
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: V215I
| 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: V215I
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020
AA Change: V215I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (68/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,223,982 (GRCm39) |
M454L |
probably benign |
Het |
| Abca8b |
T |
A |
11: 109,825,415 (GRCm39) |
E1595V |
probably damaging |
Het |
| Actr5 |
T |
A |
2: 158,468,334 (GRCm39) |
C155S |
possibly damaging |
Het |
| Acvr1b |
T |
A |
15: 101,091,939 (GRCm39) |
V73E |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,062,934 (GRCm39) |
Y31H |
probably damaging |
Het |
| Akap13 |
G |
T |
7: 75,229,342 (GRCm39) |
V92F |
probably damaging |
Het |
| Alox8 |
T |
A |
11: 69,076,696 (GRCm39) |
M568L |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,901,371 (GRCm39) |
E1145V |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,105,407 (GRCm39) |
C644* |
probably null |
Het |
| Cacng1 |
A |
T |
11: 107,594,665 (GRCm39) |
M166K |
probably damaging |
Het |
| Ces1f |
A |
G |
8: 93,994,644 (GRCm39) |
F256L |
probably benign |
Het |
| Clpb |
A |
G |
7: 101,313,039 (GRCm39) |
R8G |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,741,407 (GRCm39) |
V2504A |
possibly damaging |
Het |
| Coq8a |
T |
C |
1: 180,006,749 (GRCm39) |
D93G |
probably benign |
Het |
| Cry2 |
A |
T |
2: 92,244,060 (GRCm39) |
I371N |
probably damaging |
Het |
| Ddx43 |
A |
C |
9: 78,319,501 (GRCm39) |
Q276H |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,564,589 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,313,366 (GRCm39) |
T4378A |
probably benign |
Het |
| Fezf1 |
T |
C |
6: 23,245,789 (GRCm39) |
T459A |
probably benign |
Het |
| Gm10097 |
C |
T |
10: 5,019,407 (GRCm39) |
A72V |
unknown |
Het |
| Hydin |
A |
G |
8: 111,336,303 (GRCm39) |
S5027G |
possibly damaging |
Het |
| Inhbb |
A |
T |
1: 119,348,752 (GRCm39) |
L22* |
probably null |
Het |
| Kat8 |
G |
A |
7: 127,521,331 (GRCm39) |
G228S |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,828,379 (GRCm39) |
S897T |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,511,773 (GRCm39) |
Y1460C |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,860,241 (GRCm39) |
D225V |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,589,869 (GRCm39) |
I800F |
probably benign |
Het |
| Mdn1 |
C |
A |
4: 32,725,121 (GRCm39) |
T2580K |
probably benign |
Het |
| Mest |
T |
C |
6: 30,744,913 (GRCm39) |
F201S |
possibly damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,764,318 (GRCm39) |
F470L |
probably benign |
Het |
| Nfic |
C |
T |
10: 81,256,439 (GRCm39) |
R75Q |
probably damaging |
Het |
| Nme2 |
G |
A |
11: 93,846,484 (GRCm39) |
|
probably benign |
Het |
| Nrg4 |
A |
G |
9: 55,149,384 (GRCm39) |
L71P |
probably damaging |
Het |
| Pacsin2 |
C |
T |
15: 83,263,943 (GRCm39) |
E365K |
possibly damaging |
Het |
| Pappa |
T |
C |
4: 65,123,104 (GRCm39) |
I813T |
possibly damaging |
Het |
| Pcdhgb4 |
A |
G |
18: 37,853,938 (GRCm39) |
E111G |
probably damaging |
Het |
| Pdzd8 |
C |
T |
19: 59,288,589 (GRCm39) |
R937H |
probably damaging |
Het |
| Per1 |
T |
G |
11: 68,994,930 (GRCm39) |
|
probably benign |
Het |
| Pex2 |
A |
G |
3: 5,626,396 (GRCm39) |
F138L |
probably benign |
Het |
| Pold1 |
A |
T |
7: 44,188,290 (GRCm39) |
N529K |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,326,623 (GRCm39) |
I316V |
|
Het |
| Prom1 |
A |
C |
5: 44,170,255 (GRCm39) |
I682S |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,042,565 (GRCm39) |
K481E |
probably damaging |
Het |
| Prrg4 |
A |
T |
2: 104,662,958 (GRCm39) |
V216E |
probably damaging |
Het |
| Ptch2 |
C |
T |
4: 116,971,981 (GRCm39) |
P1168S |
possibly damaging |
Het |
| Pvr |
C |
A |
7: 19,652,562 (GRCm39) |
E118* |
probably null |
Het |
| R3hcc1l |
C |
T |
19: 42,571,868 (GRCm39) |
P716S |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,875 (GRCm39) |
E382G |
probably damaging |
Het |
| Rbp3 |
T |
A |
14: 33,677,513 (GRCm39) |
M487K |
probably benign |
Het |
| Rsad2 |
A |
T |
12: 26,500,779 (GRCm39) |
|
probably null |
Het |
| Shmt1 |
T |
C |
11: 60,681,068 (GRCm39) |
I353V |
probably benign |
Het |
| Shprh |
C |
T |
10: 11,042,474 (GRCm39) |
T819I |
probably damaging |
Het |
| Skap1 |
T |
A |
11: 96,416,883 (GRCm39) |
F56Y |
possibly damaging |
Het |
| Slc22a16 |
G |
T |
10: 40,449,737 (GRCm39) |
V79L |
possibly damaging |
Het |
| Slc34a1 |
A |
G |
13: 55,549,044 (GRCm39) |
T165A |
probably damaging |
Het |
| Smchd1 |
A |
C |
17: 71,707,145 (GRCm39) |
I941R |
probably damaging |
Het |
| Syne1 |
C |
A |
10: 5,007,931 (GRCm39) |
V98F |
probably damaging |
Het |
| Tcaim |
A |
G |
9: 122,648,055 (GRCm39) |
D190G |
possibly damaging |
Het |
| Tdrd9 |
G |
C |
12: 112,002,800 (GRCm39) |
E816D |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,214,083 (GRCm39) |
K326E |
possibly damaging |
Het |
| Usp35 |
T |
C |
7: 96,975,171 (GRCm39) |
M1V |
probably null |
Het |
| Zan |
T |
C |
5: 137,398,906 (GRCm39) |
T4153A |
unknown |
Het |
| Zfp239 |
G |
T |
6: 117,848,690 (GRCm39) |
E143* |
probably null |
Het |
| Zfp292 |
T |
C |
4: 34,808,679 (GRCm39) |
D1460G |
probably benign |
Het |
| Zfp647 |
C |
T |
15: 76,801,505 (GRCm39) |
G90R |
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 |
|
R6727:Wdr62
|
UTSW |
7 |
29,971,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTTTATGCCCAAGAAGCTGGG -3'
(R):5'- TGGAGCCTAGGAATGACCAG -3'
Sequencing Primer
(F):5'- GACCTGACCATAATGGGT -3'
(R):5'- CTTAGAGTTTAGACCACTGCCAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation