Incidental Mutation 'R9212:Wdr62'
| ID |
698941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr62
|
| Ensembl Gene |
ENSMUSG00000037020 |
| Gene Name |
WD repeat domain 62 |
| Synonyms |
2310038K02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29939563-29979844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29942563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 1015
(S1015L)
|
| 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: S1015L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: S1015L
| 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: ENSMUST00000134570
AA Change: S547L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: S547L
| 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 |
possibly damaging
Transcript: ENSMUST00000145027
AA Change: S1015L
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020
AA Change: S1015L
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,075,767 (GRCm39) |
D790G |
probably damaging |
Het |
| Abcb4 |
C |
T |
5: 9,005,591 (GRCm39) |
P1158L |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,914,565 (GRCm39) |
D521G |
probably benign |
Het |
| Adhfe1 |
A |
T |
1: 9,637,036 (GRCm39) |
D396V |
possibly damaging |
Het |
| Arhgap28 |
A |
G |
17: 68,162,430 (GRCm39) |
M639T |
probably benign |
Het |
| Asb18 |
T |
C |
1: 89,880,447 (GRCm39) |
T453A |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,655,389 (GRCm39) |
I1133T |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,667,028 (GRCm39) |
R8H |
probably damaging |
Het |
| Ccdc91 |
A |
G |
6: 147,508,398 (GRCm39) |
I375V |
unknown |
Het |
| Cdh24 |
T |
A |
14: 54,878,679 (GRCm39) |
|
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,436,649 (GRCm39) |
I916F |
possibly damaging |
Het |
| Cfap65 |
G |
A |
1: 74,959,567 (GRCm39) |
T861I |
probably benign |
Het |
| Chd1 |
T |
G |
17: 15,950,767 (GRCm39) |
S153A |
possibly damaging |
Het |
| Cit |
A |
T |
5: 116,013,952 (GRCm39) |
I222F |
possibly damaging |
Het |
| Clip1 |
T |
A |
5: 123,721,399 (GRCm39) |
K1165N |
probably damaging |
Het |
| Cln6 |
A |
G |
9: 62,757,973 (GRCm39) |
H244R |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,500,555 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
T |
G |
17: 80,576,338 (GRCm39) |
D584A |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,628,852 (GRCm39) |
V4123M |
possibly damaging |
Het |
| Fam193a |
T |
C |
5: 34,597,481 (GRCm39) |
V94A |
probably benign |
Het |
| Fzd6 |
A |
G |
15: 38,898,289 (GRCm39) |
H543R |
probably damaging |
Het |
| Gad2 |
T |
A |
2: 22,571,399 (GRCm39) |
C446S |
probably damaging |
Het |
| Gm29106 |
A |
G |
1: 118,127,270 (GRCm39) |
R321G |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,803,730 (GRCm39) |
V1447A |
probably benign |
Het |
| Hus1b |
A |
C |
13: 31,130,858 (GRCm39) |
I267S |
possibly damaging |
Het |
| Kifap3 |
C |
T |
1: 163,610,600 (GRCm39) |
L27F |
probably damaging |
Het |
| Lancl2 |
A |
C |
6: 57,714,673 (GRCm39) |
I431L |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,839,824 (GRCm39) |
P1069S |
probably damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,202,392 (GRCm39) |
V111D |
possibly damaging |
Het |
| Mta3 |
A |
T |
17: 84,015,846 (GRCm39) |
N16I |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,129,047 (GRCm39) |
A379E |
probably damaging |
Het |
| Nppc |
G |
T |
1: 86,597,619 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Or2a51 |
T |
A |
6: 43,178,756 (GRCm39) |
Y59* |
probably null |
Het |
| Or5p54 |
C |
A |
7: 107,554,017 (GRCm39) |
H56Q |
probably benign |
Het |
| Orc2 |
A |
G |
1: 58,515,695 (GRCm39) |
L271P |
probably damaging |
Het |
| Papolg |
T |
C |
11: 23,823,817 (GRCm39) |
T334A |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,291,719 (GRCm39) |
S1313P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,063,175 (GRCm39) |
T154A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,050,493 (GRCm39) |
M2254V |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,377,152 (GRCm39) |
V328A |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,761,785 (GRCm39) |
V1616A |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,086,005 (GRCm39) |
H477L |
possibly damaging |
Het |
| Rttn |
T |
C |
18: 89,064,286 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
C |
13: 11,844,560 (GRCm39) |
I392S |
probably damaging |
Het |
| Sbsn |
A |
G |
7: 30,452,427 (GRCm39) |
N481D |
probably benign |
Het |
| Sf3a3 |
G |
A |
4: 124,621,921 (GRCm39) |
E354K |
possibly damaging |
Het |
| Slc15a2 |
A |
C |
16: 36,602,053 (GRCm39) |
Y81* |
probably null |
Het |
| Slc5a2 |
C |
A |
7: 127,867,939 (GRCm39) |
Q202K |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,118,979 (GRCm39) |
N4677S |
possibly damaging |
Het |
| Stxbp2 |
G |
C |
8: 3,686,220 (GRCm39) |
K313N |
|
Het |
| Tbc1d2b |
A |
T |
9: 90,087,183 (GRCm39) |
L932Q |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,896,335 (GRCm39) |
Q264L |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,691,200 (GRCm39) |
V446A |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,993,557 (GRCm39) |
R333Q |
probably damaging |
Het |
| Wdr24 |
T |
C |
17: 26,043,472 (GRCm39) |
V98A |
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,269,789 (GRCm39) |
*975W |
probably null |
Het |
| Zfp317 |
A |
T |
9: 19,558,442 (GRCm39) |
K219* |
probably null |
Het |
| Zfp974 |
A |
G |
7: 27,610,052 (GRCm39) |
S558P |
possibly damaging |
Het |
| Zfp986 |
A |
G |
4: 145,625,798 (GRCm39) |
K153E |
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 |
|
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 |
|
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'- GAGAGGACTTGTCAGCACTCTG -3'
(R):5'- TGCTGAGGATGCTAAGCCAC -3'
Sequencing Primer
(F):5'- CGCTTGACAATGGAGAAATCC -3'
(R):5'- TGAGGATGCTAAGCCACTAGCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation