Incidental Mutation 'R8347:Wdr62'
| ID |
645297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr62
|
| Ensembl Gene |
ENSMUSG00000037020 |
| Gene Name |
WD repeat domain 62 |
| Synonyms |
2310038K02Rik |
| MMRRC Submission |
067867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
29939563-29979844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29962128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 428
(T428I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108190]
[ENSMUST00000134570]
[ENSMUST00000145027]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108190
AA Change: T428I
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: T428I
| 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 benign
Transcript: ENSMUST00000134570
|
| SMART Domains |
Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
| 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
AA Change: T428I
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020
AA Change: T428I
| 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 |
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
A |
5: 138,561,153 (GRCm39) |
I170L |
probably benign |
Het |
| Adamts15 |
C |
T |
9: 30,813,846 (GRCm39) |
R773Q |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,797,065 (GRCm39) |
L249P |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,578,201 (GRCm39) |
F499L |
probably damaging |
Het |
| Cdhr17 |
G |
A |
5: 17,006,572 (GRCm39) |
M96I |
probably benign |
Het |
| Clec12b |
C |
T |
6: 129,357,450 (GRCm39) |
|
probably null |
Het |
| Col23a1 |
G |
A |
11: 51,462,083 (GRCm39) |
G373D |
probably damaging |
Het |
| Cse1l |
C |
T |
2: 166,769,505 (GRCm39) |
T304I |
possibly damaging |
Het |
| D6Wsu163e |
T |
A |
6: 126,932,251 (GRCm39) |
L330* |
probably null |
Het |
| Dbi |
A |
C |
1: 120,048,550 (GRCm39) |
L32R |
possibly damaging |
Het |
| Dennd2c |
A |
G |
3: 103,065,025 (GRCm39) |
Y716C |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,236,812 (GRCm39) |
M379I |
possibly damaging |
Het |
| Dpys |
T |
C |
15: 39,720,709 (GRCm39) |
D17G |
probably benign |
Het |
| Dync2h1 |
C |
T |
9: 7,116,578 (GRCm39) |
S2319N |
possibly damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,888 (GRCm39) |
K457E |
probably damaging |
Het |
| Efs |
A |
G |
14: 55,157,241 (GRCm39) |
C357R |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,828,174 (GRCm39) |
W516R |
probably damaging |
Het |
| Folh1 |
T |
A |
7: 86,378,326 (GRCm39) |
R529* |
probably null |
Het |
| Fsip2 |
A |
C |
2: 82,818,198 (GRCm39) |
I4644L |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,975,903 (GRCm39) |
Y66C |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,898,110 (GRCm39) |
L730P |
probably damaging |
Het |
| Gm19668 |
T |
C |
10: 77,634,221 (GRCm39) |
*249W |
probably null |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,759,947 (GRCm39) |
D54G |
probably benign |
Het |
| Irs2 |
C |
A |
8: 11,058,000 (GRCm39) |
S144I |
possibly damaging |
Het |
| Itgb5 |
T |
C |
16: 33,761,048 (GRCm39) |
C628R |
probably damaging |
Het |
| Kcnh4 |
A |
T |
11: 100,648,575 (GRCm39) |
V43D |
probably damaging |
Het |
| Krtap16-3 |
A |
T |
16: 88,759,507 (GRCm39) |
Y69N |
unknown |
Het |
| Lcn12 |
A |
C |
2: 25,382,045 (GRCm39) |
D176E |
possibly damaging |
Het |
| Lilrb4b |
T |
A |
10: 51,357,850 (GRCm39) |
F181L |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,880,662 (GRCm39) |
H1251Q |
probably benign |
Het |
| Nppb |
C |
A |
4: 148,070,756 (GRCm39) |
L44M |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,626,373 (GRCm39) |
V320A |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,020 (GRCm39) |
W300R |
probably benign |
Het |
| Or52a24 |
A |
G |
7: 103,381,150 (GRCm39) |
S6G |
probably benign |
Het |
| Or5ae2 |
C |
T |
7: 84,505,963 (GRCm39) |
P131S |
probably damaging |
Het |
| Or5ak4 |
T |
A |
2: 85,162,047 (GRCm39) |
H65L |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,462,719 (GRCm39) |
M301V |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,245,302 (GRCm39) |
R1530Q |
probably damaging |
Het |
| Pcgf6 |
C |
T |
19: 47,034,277 (GRCm39) |
D255N |
possibly damaging |
Het |
| Pgap3 |
TCAGCAGCAGCAGCAGCAG |
TCAGCAGCAGCAGCAG |
11: 98,281,575 (GRCm39) |
|
probably benign |
Het |
| Phip |
A |
G |
9: 82,790,816 (GRCm39) |
I710T |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,365,247 (GRCm39) |
Y108N |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Rint1 |
C |
G |
5: 24,016,770 (GRCm39) |
L512V |
probably damaging |
Het |
| Sdad1 |
A |
C |
5: 92,446,088 (GRCm39) |
F282L |
probably benign |
Het |
| Sirt5 |
G |
T |
13: 43,533,977 (GRCm39) |
A189S |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,154,646 (GRCm39) |
T247A |
probably benign |
Het |
| Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,104,415 (GRCm39) |
K429E |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,934,957 (GRCm39) |
F721S |
probably benign |
Het |
| Spata31d1e |
T |
A |
13: 59,890,050 (GRCm39) |
D590V |
possibly damaging |
Het |
| St3gal1 |
G |
A |
15: 66,985,511 (GRCm39) |
R48C |
probably damaging |
Het |
| Sult2a6 |
A |
G |
7: 13,959,883 (GRCm39) |
Y217H |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,060,060 (GRCm39) |
N394S |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,323,611 (GRCm39) |
Y605* |
probably null |
Het |
| Trank1 |
T |
A |
9: 111,196,317 (GRCm39) |
L1447Q |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,446 (GRCm39) |
L690P |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,376,417 (GRCm39) |
T325A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,539,811 (GRCm39) |
T34392S |
probably benign |
Het |
| Uncx |
A |
G |
5: 139,532,571 (GRCm39) |
E212G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,679,281 (GRCm39) |
T4830A |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,362,345 (GRCm39) |
T1616N |
|
Het |
| Vars1 |
C |
T |
17: 35,234,953 (GRCm39) |
L1261F |
possibly damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,020 (GRCm39) |
S205P |
probably damaging |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,423 (GRCm39) |
I363K |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,064,838 (GRCm39) |
M16K |
probably benign |
Het |
| Yeats4 |
A |
T |
10: 117,053,374 (GRCm39) |
L129Q |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,509,784 (GRCm39) |
R187G |
probably damaging |
Het |
| Zfp853 |
A |
T |
5: 143,274,702 (GRCm39) |
L321Q |
unknown |
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 |
|
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'- GTGCACTATTCCTGGTCTCTGG -3'
(R):5'- ACCGGGATCTTGTTATGTAGTTCTC -3'
Sequencing Primer
(F):5'- TCCTGGTCTCTGGCCCTGG -3'
(R):5'- AGCTACGTCTGAAGTGACTTTCTGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation