Incidental Mutation 'R2208:Wdr90'
| ID |
236800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr90
|
| Ensembl Gene |
ENSMUSG00000073434 |
| Gene Name |
WD repeat domain 90 |
| Synonyms |
3230401M21Rik |
| MMRRC Submission |
040210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R2208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26063745-26080475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26079362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 257
(D257E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026828]
[ENSMUST00000079461]
[ENSMUST00000176923]
|
| AlphaFold |
Q6ZPG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026828
|
| SMART Domains |
Protein: ENSMUSP00000026828
Gene: ENSMUSG00000025732
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM195
|
59 |
158 |
8.3e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079461
AA Change: D257E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434
AA Change: D257E
| 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 |
probably benign
Transcript: ENSMUST00000176678
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176923
AA Change: D239E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135420
Gene: ENSMUSG00000073434
AA Change: D239E
| 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: ENSMUST00000177031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,995,096 (GRCm39) |
V5460A |
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,444,755 (GRCm39) |
V517A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,455,809 (GRCm39) |
D183E |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,084,941 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,895,327 (GRCm39) |
L34P |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,302,463 (GRCm39) |
H198L |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,485,120 (GRCm39) |
E516V |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,705,419 (GRCm39) |
L1059Q |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,655,463 (GRCm39) |
L56P |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,242,314 (GRCm39) |
V22D |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,223,887 (GRCm39) |
N883K |
probably benign |
Het |
| Cyp2c39 |
T |
C |
19: 39,549,405 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,441,137 (GRCm39) |
L141P |
probably damaging |
Het |
| Cyp4x1 |
G |
T |
4: 114,983,791 (GRCm39) |
Q85K |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Enpp7 |
T |
C |
11: 118,879,588 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,314,604 (GRCm39) |
|
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,314 (GRCm39) |
I26N |
possibly damaging |
Het |
| Gpr33 |
C |
T |
12: 52,070,236 (GRCm39) |
V268I |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,270,309 (GRCm39) |
C1182Y |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt36 |
C |
T |
11: 99,993,765 (GRCm39) |
V358M |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,224,838 (GRCm39) |
I328V |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,987 (GRCm39) |
V580A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,698,872 (GRCm39) |
I651T |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,480,934 (GRCm39) |
S118T |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,755,747 (GRCm39) |
|
noncoding transcript |
Het |
| Nabp1 |
G |
A |
1: 51,516,773 (GRCm39) |
R32* |
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,856,545 (GRCm39) |
D196G |
probably damaging |
Het |
| Or11h4b |
T |
C |
14: 50,919,020 (GRCm39) |
I24V |
probably benign |
Het |
| Pax1 |
T |
A |
2: 147,207,722 (GRCm39) |
I198N |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,196,073 (GRCm39) |
E253G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,607,428 (GRCm39) |
R1192Q |
probably damaging |
Het |
| Pianp |
C |
A |
6: 124,976,602 (GRCm39) |
P137Q |
probably damaging |
Het |
| Prdm15 |
A |
C |
16: 97,600,464 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
T |
4: 118,126,369 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,525,246 (GRCm39) |
D812G |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,050,378 (GRCm39) |
T691A |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,292,914 (GRCm39) |
S436C |
probably damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,714 (GRCm39) |
T92A |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,332,596 (GRCm39) |
S566P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,026,888 (GRCm39) |
|
probably null |
Het |
| Tep1 |
T |
C |
14: 51,104,321 (GRCm39) |
Q191R |
probably benign |
Het |
| Tmc2 |
C |
A |
2: 130,056,483 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
C |
1: 74,118,399 (GRCm39) |
I77S |
probably damaging |
Het |
| Trpd52l3 |
T |
C |
19: 29,981,646 (GRCm39) |
W134R |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,445,309 (GRCm39) |
N38K |
possibly damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,098 (GRCm39) |
C168R |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,035,065 (GRCm39) |
V462E |
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 |
|
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 |
|
|
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'- ATTACCAAGTATCTGCCACTCC -3'
(R):5'- CAACTGGGCATGTGCTTCTG -3'
Sequencing Primer
(F):5'- GTATCTGCCACTCCACCAAC -3'
(R):5'- TGGCCCTGAGGATAGCTAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation