Incidental Mutation 'IGL02172:Wdr90'
| ID |
282916 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr90
|
| Ensembl Gene |
ENSMUSG00000073434 |
| Gene Name |
WD repeat domain 90 |
| Synonyms |
3230401M21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
IGL02172
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26063745-26080475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26069408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 1233
(T1233I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079461]
[ENSMUST00000176923]
|
| AlphaFold |
Q6ZPG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079461
AA Change: T1233I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434
AA Change: T1233I
| 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: ENSMUST00000176923
AA Change: T1215I
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135420
Gene: ENSMUSG00000073434
AA Change: T1215I
| 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: ENSMUST00000176983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177017
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,341,817 (GRCm39) |
V1048A |
probably benign |
Het |
| Adgre1 |
C |
T |
17: 57,785,879 (GRCm39) |
T875I |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,367,097 (GRCm39) |
V810A |
probably benign |
Het |
| Atf1 |
T |
A |
15: 100,152,322 (GRCm39) |
V105E |
probably damaging |
Het |
| Bbs9 |
C |
T |
9: 22,490,772 (GRCm39) |
T300I |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,059,022 (GRCm39) |
V3236A |
probably damaging |
Het |
| Brd7 |
G |
T |
8: 89,078,452 (GRCm39) |
H226Q |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,705,681 (GRCm38) |
K238R |
probably damaging |
Het |
| Chordc1 |
A |
G |
9: 18,213,388 (GRCm39) |
T80A |
possibly damaging |
Het |
| Clca4a |
A |
T |
3: 144,676,155 (GRCm39) |
C126* |
probably null |
Het |
| Col24a1 |
A |
T |
3: 145,020,723 (GRCm39) |
T365S |
probably benign |
Het |
| Crb1 |
C |
T |
1: 139,164,965 (GRCm39) |
G1053D |
probably damaging |
Het |
| Creb3l4 |
A |
T |
3: 90,150,082 (GRCm39) |
S20T |
probably benign |
Het |
| Cyp2c67 |
C |
T |
19: 39,637,446 (GRCm39) |
C10Y |
possibly damaging |
Het |
| Dhdh |
A |
T |
7: 45,125,041 (GRCm39) |
C294S |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,063,861 (GRCm39) |
|
probably null |
Het |
| Fsd1 |
G |
T |
17: 56,297,244 (GRCm39) |
|
probably benign |
Het |
| Gatad2b |
A |
G |
3: 90,262,978 (GRCm39) |
|
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,680,382 (GRCm39) |
D232G |
probably damaging |
Het |
| Gm10553 |
T |
C |
1: 85,078,015 (GRCm39) |
L44P |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,438,734 (GRCm39) |
Y883C |
probably damaging |
Het |
| Helq |
A |
G |
5: 100,938,013 (GRCm39) |
F478L |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,438,681 (GRCm39) |
|
probably benign |
Het |
| Krtcap3 |
A |
C |
5: 31,409,397 (GRCm39) |
T55P |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,355,149 (GRCm39) |
D1488G |
probably damaging |
Het |
| Mrpl1 |
T |
C |
5: 96,379,574 (GRCm39) |
V203A |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,079,878 (GRCm39) |
D1084V |
possibly damaging |
Het |
| Necap2 |
T |
A |
4: 140,805,621 (GRCm39) |
|
probably benign |
Het |
| Nemp1 |
A |
G |
10: 127,528,868 (GRCm39) |
S191G |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,380 (GRCm39) |
D1059G |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 78,110,020 (GRCm39) |
|
probably benign |
Het |
| Or51e1 |
G |
A |
7: 102,359,051 (GRCm39) |
R195H |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,582 (GRCm39) |
I26V |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,627,623 (GRCm39) |
V3427G |
probably benign |
Het |
| Ptprn2 |
A |
T |
12: 116,837,317 (GRCm39) |
|
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,397,422 (GRCm39) |
L1095H |
probably damaging |
Het |
| Ren1 |
T |
A |
1: 133,286,771 (GRCm39) |
L300Q |
possibly damaging |
Het |
| Rgl3 |
A |
G |
9: 21,888,134 (GRCm39) |
I460T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Runx1t1 |
A |
C |
4: 13,859,924 (GRCm39) |
Q265P |
probably benign |
Het |
| Sh3d21 |
A |
G |
4: 126,046,153 (GRCm39) |
S282P |
probably benign |
Het |
| Slc39a13 |
T |
C |
2: 90,893,505 (GRCm39) |
E318G |
possibly damaging |
Het |
| Srd5a3 |
T |
C |
5: 76,295,556 (GRCm39) |
I82T |
probably benign |
Het |
| Stard7 |
C |
A |
2: 127,132,792 (GRCm39) |
T220N |
probably damaging |
Het |
| Tbx4 |
G |
A |
11: 85,805,389 (GRCm39) |
G493R |
possibly damaging |
Het |
| Trerf1 |
A |
T |
17: 47,628,743 (GRCm39) |
|
noncoding transcript |
Het |
| Trim59 |
T |
A |
3: 68,944,810 (GRCm39) |
I177L |
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,637,248 (GRCm39) |
M1789V |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,655,132 (GRCm39) |
V455A |
probably benign |
Het |
| Vmn2r118 |
C |
A |
17: 55,931,598 (GRCm39) |
M25I |
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zcchc2 |
G |
A |
1: 105,928,664 (GRCm39) |
D308N |
probably benign |
Het |
| Zfp57 |
G |
T |
17: 37,320,481 (GRCm39) |
V112L |
possibly damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,135 (GRCm39) |
Y388N |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation