Incidental Mutation 'R5707:Wdr90'
| ID |
452052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr90
|
| Ensembl Gene |
ENSMUSG00000073434 |
| Gene Name |
WD repeat domain 90 |
| Synonyms |
3230401M21Rik |
| MMRRC Submission |
043332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R5707 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26063745-26080475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26076166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 491
(V491A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079461]
[ENSMUST00000176923]
|
| AlphaFold |
Q6ZPG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079461
AA Change: V509A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434
AA Change: V509A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF667
|
60 |
183 |
5e-26 |
PFAM |
|
Pfam:DUF667
|
210 |
271 |
3.7e-9 |
PFAM |
|
low complexity region
|
381 |
396 |
N/A |
INTRINSIC |
|
WD40
|
478 |
519 |
5.94e0 |
SMART |
|
WD40
|
522 |
565 |
3.2e0 |
SMART |
|
WD40
|
572 |
612 |
3.3e1 |
SMART |
|
WD40
|
687 |
725 |
1.15e1 |
SMART |
|
WD40
|
728 |
766 |
5.75e-1 |
SMART |
|
WD40
|
768 |
808 |
9.24e-4 |
SMART |
|
WD40
|
811 |
850 |
4.13e0 |
SMART |
|
WD40
|
853 |
892 |
4.62e-1 |
SMART |
|
WD40
|
950 |
993 |
1.07e1 |
SMART |
|
WD40
|
996 |
1035 |
5.75e-1 |
SMART |
|
WD40
|
1040 |
1077 |
1.58e-2 |
SMART |
|
WD40
|
1290 |
1334 |
5.23e-3 |
SMART |
|
WD40
|
1337 |
1378 |
1.27e-1 |
SMART |
|
WD40
|
1384 |
1419 |
1.83e2 |
SMART |
|
WD40
|
1422 |
1469 |
3.08e0 |
SMART |
|
WD40
|
1472 |
1509 |
9.9e0 |
SMART |
|
WD40
|
1568 |
1607 |
9.02e-7 |
SMART |
|
WD40
|
1610 |
1655 |
5.75e-1 |
SMART |
|
WD40
|
1659 |
1697 |
2.98e-1 |
SMART |
|
WD40
|
1700 |
1749 |
6.14e1 |
SMART |
|
WD40
|
1850 |
1888 |
1.92e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176575
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176678
AA Change: V97A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176923
AA Change: V491A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135420
Gene: ENSMUSG00000073434
AA Change: V491A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF667
|
60 |
252 |
5.1e-14 |
PFAM |
|
low complexity region
|
363 |
378 |
N/A |
INTRINSIC |
|
WD40
|
460 |
501 |
5.94e0 |
SMART |
|
WD40
|
504 |
547 |
3.2e0 |
SMART |
|
WD40
|
554 |
594 |
3.3e1 |
SMART |
|
WD40
|
669 |
707 |
1.15e1 |
SMART |
|
WD40
|
710 |
748 |
5.75e-1 |
SMART |
|
WD40
|
750 |
790 |
9.24e-4 |
SMART |
|
WD40
|
793 |
832 |
4.13e0 |
SMART |
|
WD40
|
835 |
874 |
4.62e-1 |
SMART |
|
WD40
|
932 |
975 |
1.07e1 |
SMART |
|
WD40
|
978 |
1017 |
5.75e-1 |
SMART |
|
WD40
|
1022 |
1059 |
1.58e-2 |
SMART |
|
WD40
|
1272 |
1316 |
5.23e-3 |
SMART |
|
WD40
|
1319 |
1360 |
1.27e-1 |
SMART |
|
WD40
|
1366 |
1401 |
1.83e2 |
SMART |
|
WD40
|
1404 |
1451 |
3.08e0 |
SMART |
|
WD40
|
1454 |
1491 |
9.9e0 |
SMART |
|
WD40
|
1550 |
1589 |
9.02e-7 |
SMART |
|
WD40
|
1592 |
1637 |
5.75e-1 |
SMART |
|
WD40
|
1641 |
1679 |
2.98e-1 |
SMART |
|
WD40
|
1682 |
1731 |
6.14e1 |
SMART |
|
WD40
|
1832 |
1870 |
1.92e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177017
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,460,620 (GRCm39) |
L4210P |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,496,622 (GRCm39) |
T518A |
probably damaging |
Het |
| Adgb |
C |
T |
10: 10,267,501 (GRCm39) |
V940I |
probably damaging |
Het |
| Aqp11 |
A |
G |
7: 97,386,635 (GRCm39) |
V187A |
possibly damaging |
Het |
| Arhgef15 |
A |
G |
11: 68,845,541 (GRCm39) |
S104P |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 75,003,399 (GRCm39) |
N4762K |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,509,463 (GRCm39) |
D264G |
probably damaging |
Het |
| Cela3b |
G |
T |
4: 137,152,167 (GRCm39) |
Q97K |
probably damaging |
Het |
| Cenpc1 |
T |
A |
5: 86,183,293 (GRCm39) |
R499W |
possibly damaging |
Het |
| Chct1 |
A |
G |
11: 85,064,138 (GRCm39) |
N93S |
probably benign |
Het |
| Cnr1 |
C |
A |
4: 33,944,330 (GRCm39) |
C239* |
probably null |
Het |
| Col6a2 |
T |
C |
10: 76,446,865 (GRCm39) |
K348E |
possibly damaging |
Het |
| Ctnnb1 |
C |
A |
9: 120,784,234 (GRCm39) |
L368I |
probably benign |
Het |
| Diras1 |
T |
C |
10: 80,857,915 (GRCm39) |
E112G |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,385,050 (GRCm39) |
M332K |
possibly damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,325,563 (GRCm39) |
*747W |
probably null |
Het |
| Dydc2 |
T |
G |
14: 40,783,911 (GRCm39) |
T71P |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,491,698 (GRCm39) |
Y686C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,072 (GRCm39) |
I429N |
probably benign |
Het |
| Gm5114 |
G |
C |
7: 39,060,700 (GRCm39) |
L50V |
probably benign |
Het |
| Gm5121 |
T |
G |
9: 57,241,766 (GRCm39) |
|
noncoding transcript |
Het |
| Kidins220 |
A |
G |
12: 25,063,390 (GRCm39) |
D933G |
probably damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,924,572 (GRCm39) |
K286R |
probably damaging |
Het |
| Klf5 |
T |
C |
14: 99,538,944 (GRCm39) |
I39T |
probably benign |
Het |
| Krt14 |
C |
T |
11: 100,095,584 (GRCm39) |
V274I |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 25,054,025 (GRCm39) |
D364G |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,539,082 (GRCm39) |
E1190D |
possibly damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,011,203 (GRCm39) |
E285G |
possibly damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,402,251 (GRCm39) |
T1159M |
probably damaging |
Het |
| Odad4 |
G |
A |
11: 100,444,887 (GRCm39) |
A348T |
probably damaging |
Het |
| Or1af1 |
C |
A |
2: 37,109,901 (GRCm39) |
N133K |
probably benign |
Het |
| Or1e23 |
G |
T |
11: 73,407,451 (GRCm39) |
D191E |
probably damaging |
Het |
| Or2b2b |
A |
G |
13: 21,858,769 (GRCm39) |
L115P |
probably damaging |
Het |
| Pcare |
G |
T |
17: 72,058,567 (GRCm39) |
A370E |
possibly damaging |
Het |
| Pdlim5 |
T |
A |
3: 142,010,060 (GRCm39) |
H294L |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,288,057 (GRCm39) |
D1114E |
probably benign |
Het |
| Phf20 |
T |
G |
2: 156,138,691 (GRCm39) |
|
probably null |
Het |
| Plec |
C |
T |
15: 76,083,871 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
T |
C |
17: 36,178,128 (GRCm39) |
M1T |
probably null |
Het |
| Ppp4r3a |
G |
A |
12: 101,024,770 (GRCm39) |
T243I |
probably damaging |
Het |
| Prss41 |
C |
T |
17: 24,061,390 (GRCm39) |
V134I |
probably benign |
Het |
| Pter |
T |
C |
2: 12,982,991 (GRCm39) |
|
probably benign |
Het |
| Rasgef1b |
T |
G |
5: 99,382,461 (GRCm39) |
K176N |
possibly damaging |
Het |
| Reps1 |
T |
A |
10: 17,931,758 (GRCm39) |
D16E |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,238,397 (GRCm39) |
D73E |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,744,861 (GRCm39) |
T146S |
possibly damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,093,174 (GRCm39) |
W396R |
possibly damaging |
Het |
| Stkld1 |
A |
G |
2: 26,833,999 (GRCm39) |
E162G |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,588,874 (GRCm39) |
F106L |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,193,883 (GRCm39) |
Y340H |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,938,009 (GRCm39) |
I1556V |
possibly damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,288 (GRCm39) |
C113R |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,281,977 (GRCm39) |
F188L |
possibly damaging |
Het |
| Ucn3 |
A |
G |
13: 3,991,556 (GRCm39) |
V32A |
probably benign |
Het |
| Vmn2r83 |
T |
A |
10: 79,327,183 (GRCm39) |
M597K |
possibly damaging |
Het |
| Xylt1 |
T |
A |
7: 117,255,717 (GRCm39) |
M763K |
possibly damaging |
Het |
| Zfp507 |
G |
T |
7: 35,493,588 (GRCm39) |
A485E |
probably damaging |
Het |
|
| Other mutations in Wdr90 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Wdr90
|
APN |
17 |
26,068,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01118:Wdr90
|
APN |
17 |
26,073,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01964:Wdr90
|
APN |
17 |
26,067,383 (GRCm39) |
missense |
probably benign |
|
|
IGL02116:Wdr90
|
APN |
17 |
26,078,466 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02172:Wdr90
|
APN |
17 |
26,069,408 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02716:Wdr90
|
APN |
17 |
26,076,194 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02961:Wdr90
|
APN |
17 |
26,067,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03229:Wdr90
|
APN |
17 |
26,064,437 (GRCm39) |
splice site |
probably benign |
|
|
IGL03367:Wdr90
|
APN |
17 |
26,066,765 (GRCm39) |
splice site |
probably benign |
|
|
IGL03098:Wdr90
|
UTSW |
17 |
26,078,961 (GRCm39) |
intron |
probably benign |
|
|
R0111:Wdr90
|
UTSW |
17 |
26,067,418 (GRCm39) |
splice site |
probably benign |
|
|
R0454:Wdr90
|
UTSW |
17 |
26,079,023 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0457:Wdr90
|
UTSW |
17 |
26,079,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0488:Wdr90
|
UTSW |
17 |
26,067,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0622:Wdr90
|
UTSW |
17 |
26,074,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Wdr90
|
UTSW |
17 |
26,065,367 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0799:Wdr90
|
UTSW |
17 |
26,079,104 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1177:Wdr90
|
UTSW |
17 |
26,065,028 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1460:Wdr90
|
UTSW |
17 |
26,079,422 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1468:Wdr90
|
UTSW |
17 |
26,073,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Wdr90
|
UTSW |
17 |
26,073,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Wdr90
|
UTSW |
17 |
26,068,284 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2057:Wdr90
|
UTSW |
17 |
26,074,173 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2087:Wdr90
|
UTSW |
17 |
26,065,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2159:Wdr90
|
UTSW |
17 |
26,070,715 (GRCm39) |
missense |
probably benign |
|
|
R2208:Wdr90
|
UTSW |
17 |
26,079,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2345:Wdr90
|
UTSW |
17 |
26,078,136 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2391:Wdr90
|
UTSW |
17 |
26,070,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2394:Wdr90
|
UTSW |
17 |
26,070,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Wdr90
|
UTSW |
17 |
26,074,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3798:Wdr90
|
UTSW |
17 |
26,069,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3979:Wdr90
|
UTSW |
17 |
26,078,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4111:Wdr90
|
UTSW |
17 |
26,068,342 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4326:Wdr90
|
UTSW |
17 |
26,072,705 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4459:Wdr90
|
UTSW |
17 |
26,079,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4697:Wdr90
|
UTSW |
17 |
26,074,337 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4735:Wdr90
|
UTSW |
17 |
26,078,424 (GRCm39) |
missense |
probably benign |
|
|
R4907:Wdr90
|
UTSW |
17 |
26,079,624 (GRCm39) |
intron |
probably benign |
|
|
R5070:Wdr90
|
UTSW |
17 |
26,065,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Wdr90
|
UTSW |
17 |
26,074,277 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5268:Wdr90
|
UTSW |
17 |
26,069,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5287:Wdr90
|
UTSW |
17 |
26,080,441 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5382:Wdr90
|
UTSW |
17 |
26,064,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5511:Wdr90
|
UTSW |
17 |
26,063,995 (GRCm39) |
unclassified |
probably benign |
|
|
R5545:Wdr90
|
UTSW |
17 |
26,064,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Wdr90
|
UTSW |
17 |
26,065,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Wdr90
|
UTSW |
17 |
26,064,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6385:Wdr90
|
UTSW |
17 |
26,067,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Wdr90
|
UTSW |
17 |
26,064,885 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7078:Wdr90
|
UTSW |
17 |
26,068,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Wdr90
|
UTSW |
17 |
26,064,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7288:Wdr90
|
UTSW |
17 |
26,065,286 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7304:Wdr90
|
UTSW |
17 |
26,070,480 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7309:Wdr90
|
UTSW |
17 |
26,079,676 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7391:Wdr90
|
UTSW |
17 |
26,065,502 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7622:Wdr90
|
UTSW |
17 |
26,073,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7646:Wdr90
|
UTSW |
17 |
26,079,104 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7772:Wdr90
|
UTSW |
17 |
26,080,465 (GRCm39) |
start gained |
probably benign |
|
|
R7779:Wdr90
|
UTSW |
17 |
26,065,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Wdr90
|
UTSW |
17 |
26,065,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Wdr90
|
UTSW |
17 |
26,065,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Wdr90
|
UTSW |
17 |
26,065,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7812:Wdr90
|
UTSW |
17 |
26,071,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7870:Wdr90
|
UTSW |
17 |
26,079,513 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7911:Wdr90
|
UTSW |
17 |
26,069,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8126:Wdr90
|
UTSW |
17 |
26,067,951 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8260:Wdr90
|
UTSW |
17 |
26,064,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Wdr90
|
UTSW |
17 |
26,064,399 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8919:Wdr90
|
UTSW |
17 |
26,076,146 (GRCm39) |
missense |
|
|
|
R8938:Wdr90
|
UTSW |
17 |
26,076,146 (GRCm39) |
missense |
|
|
|
R8940:Wdr90
|
UTSW |
17 |
26,076,146 (GRCm39) |
missense |
|
|
|
R9038:Wdr90
|
UTSW |
17 |
26,076,200 (GRCm39) |
missense |
|
|
|
R9079:Wdr90
|
UTSW |
17 |
26,076,403 (GRCm39) |
missense |
|
|
|
R9401:Wdr90
|
UTSW |
17 |
26,064,750 (GRCm39) |
small insertion |
probably benign |
|
|
R9471:Wdr90
|
UTSW |
17 |
26,080,015 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9642:Wdr90
|
UTSW |
17 |
26,072,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0064:Wdr90
|
UTSW |
17 |
26,067,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Wdr90
|
UTSW |
17 |
26,079,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGGCACATTACCGTCCTC -3'
(R):5'- GCAGATTGACACTGGACAGC -3'
Sequencing Primer
(F):5'- CTGCCAGAGAAGCTGTGGTG -3'
(R):5'- ACACTGGACAGCAGAGGTTTTTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation