Incidental Mutation 'R7208:Wdr62'
| ID |
560868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr62
|
| Ensembl Gene |
ENSMUSG00000037020 |
| Gene Name |
WD repeat domain 62 |
| Synonyms |
2310038K02Rik |
| MMRRC Submission |
045285-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7208 (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 29951761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 673
(D673N)
|
| 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: D673N
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: D673N
| 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: D227N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: D227N
| 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: D673N
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020
AA Change: D673N
| 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: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
99% (76/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,074,629 (GRCm39) |
K854E |
probably damaging |
Het |
| Abcd2 |
G |
T |
15: 91,074,885 (GRCm39) |
Y309* |
probably null |
Het |
| Ache |
G |
A |
5: 137,289,751 (GRCm39) |
G360D |
probably damaging |
Het |
| Acot12 |
T |
C |
13: 91,929,361 (GRCm39) |
L396P |
probably benign |
Het |
| Acox2 |
T |
G |
14: 8,241,303 (GRCm38) |
D603A |
probably benign |
Het |
| Adam3 |
C |
A |
8: 25,201,417 (GRCm39) |
K245N |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,758,081 (GRCm39) |
I925T |
probably benign |
Het |
| Arhgap27 |
C |
T |
11: 103,251,585 (GRCm39) |
V48M |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,423,308 (GRCm39) |
|
probably null |
Het |
| B4galt4 |
T |
A |
16: 38,574,302 (GRCm39) |
F92Y |
probably damaging |
Het |
| Brwd1 |
C |
T |
16: 95,837,159 (GRCm39) |
R891Q |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,687,612 (GRCm39) |
Q462R |
probably benign |
Het |
| Ccdc112 |
T |
C |
18: 46,420,698 (GRCm39) |
R351G |
probably damaging |
Het |
| Ccdc80 |
T |
G |
16: 44,917,073 (GRCm39) |
S610A |
probably benign |
Het |
| Cdh20 |
C |
A |
1: 104,881,796 (GRCm39) |
N420K |
possibly damaging |
Het |
| Cntn3 |
G |
A |
6: 102,255,383 (GRCm39) |
R172* |
probably null |
Het |
| Ctnnd1 |
G |
T |
2: 84,452,390 (GRCm39) |
Q78K |
possibly damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,372,814 (GRCm39) |
L41H |
probably damaging |
Het |
| Dclk2 |
A |
T |
3: 86,706,909 (GRCm39) |
|
probably null |
Het |
| Dmwd |
C |
T |
7: 18,814,234 (GRCm39) |
H295Y |
probably benign |
Het |
| Dnai2 |
T |
C |
11: 114,647,988 (GRCm39) |
V588A |
unknown |
Het |
| Dnai4 |
T |
G |
4: 102,923,549 (GRCm39) |
I427L |
probably benign |
Het |
| Dtx4 |
C |
T |
19: 12,459,437 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
C |
A |
9: 7,141,059 (GRCm39) |
D1323Y |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,803,446 (GRCm39) |
H1683Q |
probably benign |
Het |
| Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Het |
| Gm9195 |
A |
G |
14: 72,689,192 (GRCm39) |
S1876P |
possibly damaging |
Het |
| Grhl2 |
A |
C |
15: 37,335,980 (GRCm39) |
K431T |
probably damaging |
Het |
| Grm7 |
T |
G |
6: 111,335,530 (GRCm39) |
I647S |
possibly damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,439,948 (GRCm39) |
N94S |
probably benign |
Het |
| Gvin2 |
A |
C |
7: 105,551,386 (GRCm39) |
S555R |
possibly damaging |
Het |
| Hmgcs1 |
G |
T |
13: 120,162,620 (GRCm39) |
G195W |
probably damaging |
Het |
| Hrc |
A |
T |
7: 44,985,989 (GRCm39) |
Y380F |
possibly damaging |
Het |
| Kcnu1 |
C |
T |
8: 26,409,665 (GRCm39) |
Q863* |
probably null |
Het |
| Lemd2 |
G |
A |
17: 27,415,165 (GRCm39) |
P300L |
probably damaging |
Het |
| Lnpep |
A |
T |
17: 17,773,172 (GRCm39) |
Y665* |
probably null |
Het |
| Lrfn1 |
A |
G |
7: 28,166,564 (GRCm39) |
T653A |
probably benign |
Het |
| Ly6g6c |
A |
G |
17: 35,286,387 (GRCm39) |
T8A |
unknown |
Het |
| Mcm5 |
T |
C |
8: 75,848,344 (GRCm39) |
|
probably null |
Het |
| Med28 |
A |
T |
5: 45,680,794 (GRCm39) |
D86V |
probably damaging |
Het |
| Mup11 |
A |
G |
4: 60,615,725 (GRCm39) |
S171P |
possibly damaging |
Het |
| Nckap1 |
A |
G |
2: 80,370,542 (GRCm39) |
F383L |
probably benign |
Het |
| Nid1 |
G |
C |
13: 13,642,970 (GRCm39) |
G303R |
probably benign |
Het |
| Nkain3 |
A |
G |
4: 20,282,892 (GRCm39) |
V147A |
probably benign |
Het |
| Or12k8 |
A |
G |
2: 36,975,670 (GRCm39) |
V30A |
probably benign |
Het |
| Pde9a |
G |
A |
17: 31,639,258 (GRCm39) |
V63I |
possibly damaging |
Het |
| Pdlim2 |
T |
A |
14: 70,411,826 (GRCm39) |
I69F |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phf20l1 |
T |
C |
15: 66,476,638 (GRCm39) |
I245T |
probably benign |
Het |
| Prmt8 |
C |
T |
6: 127,666,792 (GRCm39) |
R394H |
possibly damaging |
Het |
| Prorp |
A |
G |
12: 55,355,430 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,067,994 (GRCm39) |
D274E |
unknown |
Het |
| Psmd6 |
A |
T |
14: 14,112,225 (GRCm38) |
|
probably null |
Het |
| Rgs16 |
T |
C |
1: 153,617,416 (GRCm39) |
L69P |
probably damaging |
Het |
| Robo3 |
A |
T |
9: 37,336,020 (GRCm39) |
I482N |
probably damaging |
Het |
| Scara3 |
C |
T |
14: 66,168,715 (GRCm39) |
V301I |
possibly damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,553 (GRCm39) |
H397L |
probably benign |
Het |
| Skint11 |
T |
A |
4: 114,088,944 (GRCm39) |
L246Q |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,396,536 (GRCm39) |
R1212S |
unknown |
Het |
| Slc11a2 |
T |
C |
15: 100,300,213 (GRCm39) |
D348G |
probably benign |
Het |
| Slc15a2 |
T |
C |
16: 36,576,643 (GRCm39) |
K495E |
probably benign |
Het |
| Son |
T |
G |
16: 91,458,990 (GRCm39) |
D2072E |
unknown |
Het |
| Stau1 |
A |
G |
2: 166,805,494 (GRCm39) |
V34A |
probably damaging |
Het |
| Stk3 |
G |
T |
15: 35,073,262 (GRCm39) |
L153I |
possibly damaging |
Het |
| Swi5 |
A |
T |
2: 32,177,922 (GRCm39) |
V13E |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,078,172 (GRCm39) |
|
probably null |
Het |
| Synm |
T |
C |
7: 67,384,663 (GRCm39) |
M558V |
probably benign |
Het |
| Tep1 |
T |
A |
14: 51,062,013 (GRCm39) |
|
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,667,151 (GRCm39) |
V149A |
probably benign |
Het |
| Tmem214 |
T |
A |
5: 31,028,065 (GRCm39) |
V95E |
possibly damaging |
Het |
| Tnnt2 |
T |
A |
1: 135,778,114 (GRCm39) |
|
probably null |
Het |
| Txlna |
A |
G |
4: 129,525,071 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,948 (GRCm39) |
I841T |
probably damaging |
Het |
| Wasf2 |
G |
A |
4: 132,923,045 (GRCm39) |
V452I |
probably damaging |
Het |
| Wdr95 |
C |
T |
5: 149,518,836 (GRCm39) |
T559I |
probably benign |
Het |
| Zbtb40 |
A |
T |
4: 136,726,937 (GRCm39) |
|
probably null |
Het |
| Zfat |
T |
C |
15: 68,051,856 (GRCm39) |
E646G |
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 |
|
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'- GCATTCAGCAAGAGGACTCC -3'
(R):5'- AGTCAACAGTGCTCCAGGAC -3'
Sequencing Primer
(F):5'- GAGGACTCCTCCCTCTGC -3'
(R):5'- GACATAACCTCTCTGCCGGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation