Incidental Mutation 'R0622:Wdr90'
| ID |
58757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr90
|
| Ensembl Gene |
ENSMUSG00000073434 |
| Gene Name |
WD repeat domain 90 |
| Synonyms |
3230401M21Rik |
| MMRRC Submission |
038811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R0622 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26063745-26080475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26074632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 603
(C603Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079461]
[ENSMUST00000176923]
|
| AlphaFold |
Q6ZPG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079461
AA Change: C603Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434
AA Change: C603Y
| 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: ENSMUST00000176170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176678
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176923
AA Change: C585Y
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135420
Gene: ENSMUSG00000073434
AA Change: C585Y
| 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: ENSMUST00000180868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177031
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
T |
A |
13: 30,565,664 (GRCm39) |
M243K |
probably benign |
Het |
| Ap1b1 |
A |
G |
11: 4,987,707 (GRCm39) |
M744V |
probably damaging |
Het |
| Ccdc152 |
T |
C |
15: 3,327,660 (GRCm39) |
N39S |
probably damaging |
Het |
| Cd163 |
G |
A |
6: 124,294,311 (GRCm39) |
V490M |
probably damaging |
Het |
| Col6a5 |
G |
T |
9: 105,803,051 (GRCm39) |
H1305N |
unknown |
Het |
| Cpb1 |
C |
A |
3: 20,303,982 (GRCm39) |
D361Y |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,412,656 (GRCm39) |
Y1248F |
probably damaging |
Het |
| Dhdds |
G |
C |
4: 133,721,547 (GRCm39) |
F83L |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,582,845 (GRCm39) |
V161E |
possibly damaging |
Het |
| Exosc4 |
A |
G |
15: 76,211,736 (GRCm39) |
D15G |
probably damaging |
Het |
| F3 |
A |
T |
3: 121,518,668 (GRCm39) |
D44V |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,173,954 (GRCm39) |
F2253Y |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,220,944 (GRCm39) |
D650G |
possibly damaging |
Het |
| Gramd4 |
T |
A |
15: 85,975,590 (GRCm39) |
F36I |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,457 (GRCm39) |
A623T |
probably damaging |
Het |
| Gys1 |
A |
T |
7: 45,089,419 (GRCm39) |
T193S |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,486,688 (GRCm39) |
T3228A |
possibly damaging |
Het |
| Itpk1 |
G |
T |
12: 102,540,239 (GRCm39) |
D281E |
probably damaging |
Het |
| Kcnh7 |
A |
C |
2: 62,667,633 (GRCm39) |
|
probably null |
Het |
| Klhl29 |
A |
G |
12: 5,131,224 (GRCm39) |
L852P |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,033,491 (GRCm39) |
Y509C |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,618,563 (GRCm39) |
|
probably null |
Het |
| Mcpt4 |
C |
A |
14: 56,298,119 (GRCm39) |
R144L |
probably benign |
Het |
| Mia2 |
C |
T |
12: 59,178,364 (GRCm39) |
R12W |
probably damaging |
Het |
| Mrps5 |
A |
G |
2: 127,436,451 (GRCm39) |
K116R |
probably benign |
Het |
| Myrf |
G |
A |
19: 10,200,816 (GRCm39) |
P286S |
probably damaging |
Het |
| Nanp |
A |
G |
2: 150,881,164 (GRCm39) |
M28T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,102,963 (GRCm39) |
I4472V |
probably benign |
Het |
| Nfix |
A |
C |
8: 85,453,111 (GRCm39) |
N314K |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,771,832 (GRCm39) |
R849Q |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,075,047 (GRCm39) |
V786M |
probably damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,167 (GRCm39) |
S36P |
probably damaging |
Het |
| Or52ad1 |
A |
G |
7: 102,996,064 (GRCm39) |
S24P |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,598 (GRCm39) |
I163T |
possibly damaging |
Het |
| Or8c20 |
A |
G |
9: 38,260,667 (GRCm39) |
N96S |
possibly damaging |
Het |
| Pdia4 |
A |
T |
6: 47,783,452 (GRCm39) |
F197Y |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,149 (GRCm39) |
D432G |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,490,701 (GRCm39) |
E116G |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,881,355 (GRCm39) |
V1173A |
probably benign |
Het |
| Pou2f3 |
C |
T |
9: 43,036,414 (GRCm39) |
R423H |
probably damaging |
Het |
| Pramel29 |
T |
C |
4: 143,939,583 (GRCm39) |
|
probably benign |
Het |
| Prkag2 |
T |
C |
5: 25,074,247 (GRCm39) |
N246S |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,385,281 (GRCm39) |
S388G |
probably benign |
Het |
| Ralgps1 |
G |
A |
2: 33,064,459 (GRCm39) |
R238* |
probably null |
Het |
| Rfx2 |
T |
C |
17: 57,084,071 (GRCm39) |
D657G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,492,900 (GRCm39) |
F3724S |
probably damaging |
Het |
| Sh2d5 |
T |
C |
4: 137,986,539 (GRCm39) |
S421P |
probably damaging |
Het |
| Slc34a1 |
C |
A |
13: 23,996,594 (GRCm39) |
T33K |
probably damaging |
Het |
| St8sia5 |
A |
G |
18: 77,333,809 (GRCm39) |
T156A |
probably damaging |
Het |
| Stk32c |
T |
C |
7: 138,768,026 (GRCm39) |
D85G |
probably benign |
Het |
| Tnks |
A |
G |
8: 35,407,976 (GRCm39) |
S251P |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,937,703 (GRCm39) |
L3864Q |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,393,378 (GRCm39) |
Y189H |
probably damaging |
Het |
| Vmn1r77 |
T |
G |
7: 11,775,315 (GRCm39) |
F30L |
probably benign |
Het |
| Wasf3 |
A |
G |
5: 146,403,602 (GRCm39) |
|
probably null |
Het |
| Zdhhc25 |
T |
C |
15: 88,485,310 (GRCm39) |
L215P |
probably damaging |
Het |
| Zeb1 |
C |
T |
18: 5,759,123 (GRCm39) |
Q140* |
probably null |
Het |
| Zfp677 |
C |
T |
17: 21,617,962 (GRCm39) |
L340F |
probably benign |
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 |
|
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 |
|
R5707:Wdr90
|
UTSW |
17 |
26,076,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGACCACTATGGCTGCACACAAAG -3'
(R):5'- GCACACTGACTTCGATATTCGGGC -3'
Sequencing Primer
(F):5'- GGCTGCACACAAAGCTACAG -3'
(R):5'- CGATATTCGGGCCTTCCAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation