Incidental Mutation 'R3979:Wdr90'
| ID |
311216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr90
|
| Ensembl Gene |
ENSMUSG00000073434 |
| Gene Name |
WD repeat domain 90 |
| Synonyms |
3230401M21Rik |
| MMRRC Submission |
040942-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R3979 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26063745-26080475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26078252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 372
(V372A)
|
| 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 benign
Transcript: ENSMUST00000079461
AA Change: V372A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434
AA Change: V372A
| 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 benign
Transcript: ENSMUST00000176923
AA Change: V354A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135420
Gene: ENSMUSG00000073434
AA Change: V354A
| 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: ENSMUST00000177031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,154,320 (GRCm39) |
V82A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
| Ak3 |
T |
A |
19: 29,025,118 (GRCm39) |
S38C |
probably damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
| Arhgap10 |
T |
C |
8: 78,147,354 (GRCm39) |
N170S |
probably benign |
Het |
| B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
| Bicral |
T |
A |
17: 47,141,917 (GRCm39) |
M1L |
unknown |
Het |
| Bop1 |
A |
G |
15: 76,338,076 (GRCm39) |
L598P |
probably damaging |
Het |
| Cachd1 |
A |
T |
4: 100,828,085 (GRCm39) |
D611V |
probably damaging |
Het |
| Cfap70 |
T |
A |
14: 20,489,787 (GRCm39) |
E246D |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,692,245 (GRCm39) |
Y294* |
probably null |
Het |
| Chrna2 |
T |
A |
14: 66,386,402 (GRCm39) |
Y183N |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
| Dnajb6 |
T |
C |
5: 29,956,006 (GRCm39) |
F46L |
possibly damaging |
Het |
| Exoc7 |
T |
C |
11: 116,187,588 (GRCm39) |
E275G |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,559,491 (GRCm39) |
I1672T |
probably benign |
Het |
| Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
| H2-M10.4 |
A |
G |
17: 36,772,877 (GRCm39) |
V35A |
probably benign |
Het |
| Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,137,552 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
A |
7: 80,409,682 (GRCm39) |
H218Y |
probably damaging |
Het |
| Itpr3 |
A |
C |
17: 27,304,105 (GRCm39) |
K109Q |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,310,546 (GRCm39) |
D443G |
probably damaging |
Het |
| Katna1 |
T |
C |
10: 7,628,518 (GRCm39) |
M249T |
probably damaging |
Het |
| Klk1b4 |
G |
A |
7: 43,861,017 (GRCm39) |
G220D |
probably damaging |
Het |
| Krt24 |
A |
G |
11: 99,173,596 (GRCm39) |
C242R |
probably benign |
Het |
| Madd |
G |
A |
2: 91,007,173 (GRCm39) |
T313I |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 112,006,885 (GRCm39) |
|
probably null |
Het |
| Neil3 |
T |
C |
8: 54,076,699 (GRCm39) |
T79A |
probably damaging |
Het |
| Nras |
A |
G |
3: 102,967,541 (GRCm39) |
I46V |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,031 (GRCm39) |
H56Q |
probably benign |
Het |
| Or4a66 |
T |
C |
2: 88,530,792 (GRCm39) |
S294G |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
| Rarres1 |
A |
G |
3: 67,403,143 (GRCm39) |
V86A |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,685,944 (GRCm39) |
R19W |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 17,022,737 (GRCm39) |
K1059E |
probably damaging |
Het |
| Sft2d1rt |
T |
A |
11: 45,942,853 (GRCm39) |
K90M |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,240,647 (GRCm39) |
H259R |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,699,320 (GRCm39) |
D515G |
possibly damaging |
Het |
| Sycp2l |
A |
G |
13: 41,295,440 (GRCm39) |
I334M |
probably damaging |
Het |
| Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,199,087 (GRCm39) |
L1335S |
possibly damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,619,481 (GRCm39) |
V182A |
probably damaging |
Het |
| Tcof1 |
C |
T |
18: 60,964,605 (GRCm39) |
E674K |
possibly damaging |
Het |
| Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,575,738 (GRCm39) |
W25052R |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,693,168 (GRCm39) |
N1746I |
probably benign |
Het |
| Vax2 |
T |
C |
6: 83,714,529 (GRCm39) |
V148A |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,941 (GRCm39) |
I698N |
probably damaging |
Het |
| Zfp335 |
C |
T |
2: 164,752,558 (GRCm39) |
G62D |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,324,701 (GRCm39) |
R432H |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,636 (GRCm39) |
T537A |
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 |
|
|
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 |
|
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'- CAGGAACCAATGTCCTCAAGG -3'
(R):5'- GCTCCATTGTAGTCTTCCTAGG -3'
Sequencing Primer
(F):5'- AATGTCCTCAAGGGCCATG -3'
(R):5'- ATCCAGGGGTCTTGGGCAAAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation