Incidental Mutation 'R7646:Wdr90'
ID |
590566 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr90
|
Ensembl Gene |
ENSMUSG00000073434 |
Gene Name |
WD repeat domain 90 |
Synonyms |
3230401M21Rik |
MMRRC Submission |
045724-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R7646 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26063745-26080475 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26079104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 246
(V246A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135420
(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: V264A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000078426 Gene: ENSMUSG00000073434 AA Change: V264A
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: V246A
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000135420 Gene: ENSMUSG00000073434 AA Change: V246A
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,113,937 (GRCm39) |
H936R |
probably benign |
Het |
Afg3l1 |
C |
A |
8: 124,219,766 (GRCm39) |
D431E |
possibly damaging |
Het |
Agrn |
T |
C |
4: 156,279,811 (GRCm39) |
N120S |
probably damaging |
Het |
Apob |
A |
G |
12: 8,059,189 (GRCm39) |
D2557G |
probably damaging |
Het |
Atl2 |
A |
G |
17: 80,162,036 (GRCm39) |
Y359H |
probably damaging |
Het |
Banp |
T |
C |
8: 122,750,775 (GRCm39) |
S489P |
possibly damaging |
Het |
Cage1 |
A |
G |
13: 38,206,823 (GRCm39) |
C341R |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,140,931 (GRCm39) |
N3139S |
possibly damaging |
Het |
Chd2 |
G |
T |
7: 73,085,521 (GRCm39) |
S1704R |
possibly damaging |
Het |
Col4a2 |
T |
A |
8: 11,495,086 (GRCm39) |
F1515I |
probably benign |
Het |
Crocc |
T |
A |
4: 140,748,966 (GRCm39) |
Q1613L |
probably null |
Het |
Cttnbp2 |
A |
T |
6: 18,375,939 (GRCm39) |
S1533R |
probably damaging |
Het |
Dlgap5 |
C |
T |
14: 47,636,976 (GRCm39) |
|
probably null |
Het |
Dnah8 |
G |
A |
17: 30,868,651 (GRCm39) |
D362N |
probably benign |
Het |
Elf5 |
G |
T |
2: 103,269,588 (GRCm39) |
K56N |
probably benign |
Het |
Emsy |
G |
A |
7: 98,268,560 (GRCm39) |
P508S |
probably damaging |
Het |
Fam135a |
T |
C |
1: 24,067,704 (GRCm39) |
H1055R |
probably benign |
Het |
Fh1 |
C |
T |
1: 175,442,479 (GRCm39) |
V124I |
probably benign |
Het |
Gbf1 |
T |
A |
19: 46,272,111 (GRCm39) |
D1610E |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,155,257 (GRCm39) |
K415E |
probably benign |
Het |
Glyr1 |
T |
C |
16: 4,836,361 (GRCm39) |
D496G |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,784,361 (GRCm39) |
I1342V |
probably benign |
Het |
Hoxa7 |
A |
G |
6: 52,192,699 (GRCm39) |
*230Q |
probably null |
Het |
Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
Ildr1 |
T |
A |
16: 36,542,281 (GRCm39) |
M271K |
possibly damaging |
Het |
Klk1b22 |
T |
G |
7: 43,765,542 (GRCm39) |
|
probably null |
Het |
Lig3 |
T |
A |
11: 82,674,304 (GRCm39) |
N43K |
probably benign |
Het |
Mcmdc2 |
A |
G |
1: 9,982,360 (GRCm39) |
T83A |
possibly damaging |
Het |
Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
T |
7: 135,298,498 (GRCm39) |
S2179T |
possibly damaging |
Het |
Mrpl38 |
G |
A |
11: 116,023,593 (GRCm39) |
S282L |
probably damaging |
Het |
Ndst2 |
A |
G |
14: 20,774,527 (GRCm39) |
|
probably null |
Het |
Nlrp4a |
C |
G |
7: 26,148,987 (GRCm39) |
A198G |
probably damaging |
Het |
Nup98 |
A |
C |
7: 101,803,242 (GRCm39) |
S653A |
probably benign |
Het |
Or12e8 |
A |
G |
2: 87,188,102 (GRCm39) |
I105V |
probably benign |
Het |
Or13a27 |
A |
G |
7: 139,925,864 (GRCm39) |
F13L |
probably damaging |
Het |
Or14j10 |
G |
T |
17: 37,935,295 (GRCm39) |
T77K |
probably damaging |
Het |
Or51ai2 |
G |
A |
7: 103,587,504 (GRCm39) |
A306T |
probably damaging |
Het |
Or8k37 |
C |
A |
2: 86,469,513 (GRCm39) |
D180Y |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,570,909 (GRCm39) |
D98V |
probably damaging |
Het |
Peg3 |
A |
T |
7: 6,712,221 (GRCm39) |
D1000E |
probably benign |
Het |
Polr3h |
A |
G |
15: 81,801,571 (GRCm39) |
Y131H |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,516,780 (GRCm39) |
I346V |
probably benign |
Het |
Rufy1 |
T |
A |
11: 50,301,436 (GRCm39) |
K332M |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,118,102 (GRCm39) |
M404V |
possibly damaging |
Het |
Septin8 |
T |
A |
11: 53,428,744 (GRCm39) |
|
probably null |
Het |
Sesn3 |
A |
G |
9: 14,219,911 (GRCm39) |
D100G |
probably damaging |
Het |
Setx |
A |
G |
2: 29,067,561 (GRCm39) |
I2388V |
possibly damaging |
Het |
Skint5 |
T |
A |
4: 113,620,739 (GRCm39) |
|
probably null |
Het |
Slc25a23 |
C |
T |
17: 57,366,759 (GRCm39) |
|
probably benign |
Het |
Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
Slco3a1 |
G |
A |
7: 74,154,344 (GRCm39) |
A76V |
probably damaging |
Het |
Stradb |
A |
T |
1: 59,033,567 (GRCm39) |
D410V |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,122,949 (GRCm39) |
D329G |
probably damaging |
Het |
Syt4 |
A |
C |
18: 31,574,658 (GRCm39) |
S320A |
possibly damaging |
Het |
Tnfsf4 |
A |
G |
1: 161,244,733 (GRCm39) |
T141A |
possibly damaging |
Het |
Trim34b |
G |
A |
7: 103,984,559 (GRCm39) |
A279T |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,845,325 (GRCm39) |
D1675V |
probably benign |
Het |
Vmn2r24 |
T |
A |
6: 123,793,169 (GRCm39) |
M832K |
probably benign |
Het |
Xkr6 |
G |
T |
14: 63,844,423 (GRCm39) |
D149Y |
probably damaging |
Het |
Zfp108 |
A |
G |
7: 23,960,840 (GRCm39) |
Y477C |
probably damaging |
Het |
Zfp37 |
T |
G |
4: 62,109,532 (GRCm39) |
I552L |
probably damaging |
Het |
Zfp426 |
A |
T |
9: 20,381,320 (GRCm39) |
S556T |
probably damaging |
Het |
Zfp954 |
G |
A |
7: 7,118,720 (GRCm39) |
L275F |
possibly 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 |
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 |
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'- CACTTGGAAACCTTGTGGGG -3'
(R):5'- AGCTGGCAGATAAGAACCAC -3'
Sequencing Primer
(F):5'- TAGAAGCAAAATCAATATCTGGGGAC -3'
(R):5'- CTTACCAATTTCAGAGGAGAGCCATG -3'
|
Posted On |
2019-10-24 |