Incidental Mutation 'R9166:Wdr62'
| ID |
696060 |
| 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 # |
R9166 (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 29941874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 1115
(P1115L)
|
| 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: P1115L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: P1115L
| 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: P644L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: P644L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,853,046 (GRCm39) |
L30P |
possibly damaging |
Het |
| Adgrb1 |
A |
C |
15: 74,420,475 (GRCm39) |
M875L |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Ankrd13c |
T |
A |
3: 157,705,357 (GRCm39) |
S427T |
probably benign |
Het |
| Aopep |
G |
A |
13: 63,318,862 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
A |
C |
13: 94,608,236 (GRCm39) |
Y569S |
probably damaging |
Het |
| Bco2 |
A |
G |
9: 50,447,667 (GRCm39) |
V352A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,516 (GRCm39) |
N2630K |
probably damaging |
Het |
| Cacnb1 |
T |
A |
11: 97,910,534 (GRCm39) |
D48V |
probably damaging |
Het |
| Cdr2l |
C |
A |
11: 115,283,537 (GRCm39) |
Q132K |
probably benign |
Het |
| Chrd |
T |
C |
16: 20,554,572 (GRCm39) |
M377T |
probably benign |
Het |
| Coq7 |
T |
C |
7: 118,109,365 (GRCm39) |
T228A |
unknown |
Het |
| D7Ertd443e |
G |
A |
7: 133,900,048 (GRCm39) |
T438I |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,066,589 (GRCm39) |
E15K |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,651,206 (GRCm39) |
R109Q |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,126,959 (GRCm39) |
V1359A |
probably damaging |
Het |
| E2f7 |
C |
T |
10: 110,618,085 (GRCm39) |
P717S |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,132,438 (GRCm39) |
D669G |
probably benign |
Het |
| Epha6 |
A |
G |
16: 60,425,238 (GRCm39) |
V125A |
probably benign |
Het |
| Erg |
G |
T |
16: 95,190,807 (GRCm39) |
H119N |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,595,252 (GRCm39) |
S371G |
probably benign |
Het |
| Fancg |
G |
C |
4: 43,006,800 (GRCm39) |
Q297E |
probably benign |
Het |
| Gas2 |
A |
G |
7: 51,586,323 (GRCm39) |
E145G |
possibly damaging |
Het |
| Gas7 |
T |
C |
11: 67,561,446 (GRCm39) |
V218A |
probably benign |
Het |
| Gm9970 |
A |
G |
5: 31,398,345 (GRCm39) |
S78P |
unknown |
Het |
| Hectd4 |
A |
C |
5: 121,446,690 (GRCm39) |
D259A |
probably damaging |
Het |
| Hoxb2 |
T |
G |
11: 96,244,339 (GRCm39) |
S317A |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,270,185 (GRCm39) |
L2381P |
probably damaging |
Het |
| Irf4 |
A |
T |
13: 30,941,484 (GRCm39) |
H280L |
probably benign |
Het |
| Irf7 |
A |
G |
7: 140,844,666 (GRCm39) |
V142A |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,190,928 (GRCm39) |
I94V |
probably benign |
Het |
| Kera |
T |
A |
10: 97,448,830 (GRCm39) |
I350K |
possibly damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,952 (GRCm39) |
S176P |
probably benign |
Het |
| Lrrc59 |
C |
A |
11: 94,522,959 (GRCm39) |
T53N |
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,945,024 (GRCm39) |
Y83H |
probably damaging |
Het |
| Myef2l |
A |
G |
3: 10,153,849 (GRCm39) |
N206S |
probably benign |
Het |
| Neil3 |
A |
C |
8: 54,058,722 (GRCm39) |
M273R |
probably damaging |
Het |
| Ngfr |
A |
T |
11: 95,465,047 (GRCm39) |
V267E |
possibly damaging |
Het |
| Nudc |
T |
C |
4: 133,273,165 (GRCm39) |
D11G |
probably damaging |
Het |
| Or2t1 |
A |
T |
14: 14,329,059 (GRCm38) |
D316V |
probably benign |
Het |
| Or4a81 |
T |
A |
2: 89,619,291 (GRCm39) |
N135I |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pik3cg |
C |
T |
12: 32,242,213 (GRCm39) |
G966R |
probably damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,920,980 (GRCm39) |
T573A |
probably damaging |
Het |
| Ppp2r5a |
C |
A |
1: 191,128,504 (GRCm39) |
R37L |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,387,340 (GRCm39) |
F1207S |
possibly damaging |
Het |
| Prtg |
A |
T |
9: 72,764,107 (GRCm39) |
I527F |
probably damaging |
Het |
| Pspc1 |
A |
G |
14: 56,999,305 (GRCm39) |
M317T |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,525,180 (GRCm39) |
V768I |
probably benign |
Het |
| Ptx4 |
A |
G |
17: 25,343,546 (GRCm39) |
|
probably null |
Het |
| Ralgapb |
T |
C |
2: 158,274,842 (GRCm39) |
|
probably null |
Het |
| Rhobtb2 |
C |
A |
14: 70,034,703 (GRCm39) |
G174V |
probably damaging |
Het |
| Sdad1 |
G |
T |
5: 92,446,080 (GRCm39) |
S285* |
probably null |
Het |
| Sema4f |
G |
T |
6: 82,890,626 (GRCm39) |
S727* |
probably null |
Het |
| Sik1 |
A |
G |
17: 32,069,727 (GRCm39) |
F241L |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,662,096 (GRCm39) |
S279P |
probably benign |
Het |
| Slco4a1 |
A |
G |
2: 180,106,034 (GRCm39) |
E72G |
probably benign |
Het |
| Smok3c |
A |
T |
5: 138,063,781 (GRCm39) |
T423S |
possibly damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,784,811 (GRCm39) |
V1078A |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,673,776 (GRCm39) |
V337A |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,173,933 (GRCm39) |
G1443V |
probably damaging |
Het |
| Ticam2 |
A |
T |
18: 46,694,048 (GRCm39) |
L13H |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,786,624 (GRCm39) |
E1562G |
probably damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,074 (GRCm39) |
K742N |
probably damaging |
Het |
| Trim56 |
A |
T |
5: 137,142,751 (GRCm39) |
V255E |
probably damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,608 (GRCm39) |
E2G |
probably benign |
Het |
| Tubd1 |
A |
T |
11: 86,452,091 (GRCm39) |
T353S |
probably benign |
Het |
| Vim |
T |
C |
2: 13,579,556 (GRCm39) |
V105A |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,431 (GRCm39) |
V404E |
probably damaging |
Het |
| Wfdc12 |
G |
T |
2: 164,032,193 (GRCm39) |
C32* |
probably null |
Het |
| Zfp750 |
T |
A |
11: 121,403,980 (GRCm39) |
R298S |
probably damaging |
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 |
|
|
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'- GAGCCTCTGGAGACTTCATAAGG -3'
(R):5'- CTTCCATGGTAAGGTGGTGAAG -3'
Sequencing Primer
(F):5'- CCTCTGGAGACTTCATAAGGTGCAG -3'
(R):5'- CCATGGTAAGGTGGTGAAGGATGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation