Incidental Mutation 'R7911:Wdr90'
| ID |
610541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr90
|
| Ensembl Gene |
ENSMUSG00000073434 |
| Gene Name |
WD repeat domain 90 |
| Synonyms |
3230401M21Rik |
| MMRRC Submission |
045960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R7911 (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 T
at 26069723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1205
(M1205K)
|
| 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: M1205K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434
AA Change: M1205K
| 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 |
probably benign
Transcript: ENSMUST00000176923
AA Change: M1187K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000135420
Gene: ENSMUSG00000073434
AA Change: M1187K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
C |
5: 107,693,667 (GRCm39) |
F95L |
probably benign |
Het |
| Abca3 |
C |
G |
17: 24,617,478 (GRCm39) |
D1058E |
probably damaging |
Het |
| Abca7 |
C |
A |
10: 79,840,867 (GRCm39) |
R919S |
probably benign |
Het |
| Abcc2 |
T |
C |
19: 43,792,109 (GRCm39) |
S297P |
probably benign |
Het |
| Abcc8 |
A |
G |
7: 45,803,860 (GRCm39) |
L438P |
probably damaging |
Het |
| Acbd6 |
C |
A |
1: 155,562,750 (GRCm39) |
D250E |
probably damaging |
Het |
| Ankrd31 |
A |
G |
13: 97,015,608 (GRCm39) |
N1626D |
possibly damaging |
Het |
| Arrdc4 |
C |
T |
7: 68,394,924 (GRCm39) |
E112K |
probably benign |
Het |
| B3galnt1 |
T |
A |
3: 69,482,574 (GRCm39) |
Y229F |
probably damaging |
Het |
| Calcrl |
A |
C |
2: 84,181,575 (GRCm39) |
I191S |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,759,866 (GRCm39) |
|
probably null |
Het |
| Card11 |
A |
G |
5: 140,867,755 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
A |
G |
2: 32,668,219 (GRCm39) |
L407P |
probably damaging |
Het |
| Cfap299 |
T |
A |
5: 98,885,567 (GRCm39) |
M158K |
possibly damaging |
Het |
| Chst15 |
T |
C |
7: 131,872,251 (GRCm39) |
Q10R |
probably benign |
Het |
| Ciao3 |
A |
G |
17: 25,999,372 (GRCm39) |
E262G |
probably benign |
Het |
| Col26a1 |
A |
G |
5: 136,771,952 (GRCm39) |
L424P |
probably damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,299,925 (GRCm39) |
M308T |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,207,733 (GRCm39) |
I403T |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,238,563 (GRCm39) |
|
probably null |
Het |
| Dmrt1 |
T |
A |
19: 25,580,692 (GRCm39) |
L368Q |
probably benign |
Het |
| Dnah7b |
C |
A |
1: 46,178,838 (GRCm39) |
P837Q |
probably damaging |
Het |
| Drg2 |
T |
A |
11: 60,355,001 (GRCm39) |
L283Q |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,445,122 (GRCm39) |
T1523I |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,479,818 (GRCm39) |
S370P |
probably damaging |
Het |
| Fbxl21 |
G |
A |
13: 56,684,976 (GRCm39) |
G360D |
probably damaging |
Het |
| Fbxo39 |
T |
C |
11: 72,208,358 (GRCm39) |
S237P |
probably damaging |
Het |
| Gart |
G |
T |
16: 91,435,672 (GRCm39) |
F180L |
probably benign |
Het |
| Gng4 |
T |
C |
13: 13,999,857 (GRCm39) |
L42P |
possibly damaging |
Het |
| Heatr9 |
T |
A |
11: 83,403,234 (GRCm39) |
D435V |
probably damaging |
Het |
| Hsh2d |
A |
G |
8: 72,950,648 (GRCm39) |
E45G |
probably damaging |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,410 (GRCm39) |
I70T |
probably damaging |
Het |
| Igkv1-133 |
T |
A |
6: 67,701,924 (GRCm39) |
F9L |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,167,051 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
C |
10: 67,067,774 (GRCm39) |
V1578A |
probably damaging |
Het |
| Kcnj5 |
T |
C |
9: 32,233,517 (GRCm39) |
D266G |
probably damaging |
Het |
| Klk1b9 |
A |
T |
7: 43,629,211 (GRCm39) |
K206N |
probably damaging |
Het |
| Macir |
T |
A |
1: 97,573,615 (GRCm39) |
H150L |
probably damaging |
Het |
| Madd |
C |
T |
2: 90,997,853 (GRCm39) |
G725D |
probably null |
Het |
| Mki67 |
A |
T |
7: 135,306,333 (GRCm39) |
H576Q |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,651,681 (GRCm39) |
I36N |
|
Het |
| Mycbp2 |
T |
G |
14: 103,437,621 (GRCm39) |
E2113D |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,457,677 (GRCm39) |
Y76C |
probably damaging |
Het |
| Noct |
A |
G |
3: 51,155,069 (GRCm39) |
|
probably benign |
Het |
| Or5ac23 |
C |
T |
16: 59,149,606 (GRCm39) |
D89N |
possibly damaging |
Het |
| Pcdhga6 |
C |
T |
18: 37,842,479 (GRCm39) |
S733L |
not run |
Het |
| Pdlim7 |
T |
C |
13: 55,646,919 (GRCm39) |
E389G |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,173,139 (GRCm39) |
Y480H |
possibly damaging |
Het |
| Prc1 |
T |
A |
7: 79,954,120 (GRCm39) |
D93E |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,613,792 (GRCm39) |
M459T |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,688,924 (GRCm39) |
A906T |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,655,101 (GRCm39) |
E622G |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,501,788 (GRCm39) |
V1104A |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,512,427 (GRCm39) |
R188Q |
probably null |
Het |
| Sh3pxd2b |
G |
A |
11: 32,321,533 (GRCm39) |
V31I |
probably damaging |
Het |
| Skor1 |
T |
C |
9: 63,052,328 (GRCm39) |
E547G |
possibly damaging |
Het |
| Slk |
C |
T |
19: 47,603,668 (GRCm39) |
T183I |
|
Het |
| Sorcs1 |
C |
A |
19: 50,132,470 (GRCm39) |
D1163Y |
unknown |
Het |
| Tex14 |
G |
A |
11: 87,424,428 (GRCm39) |
|
probably null |
Het |
| Them5 |
A |
G |
3: 94,253,496 (GRCm39) |
T169A |
possibly damaging |
Het |
| Tlcd4 |
A |
T |
3: 121,022,041 (GRCm39) |
I119K |
probably damaging |
Het |
| Trav5-4 |
T |
C |
14: 53,941,908 (GRCm39) |
F94L |
probably benign |
Het |
| Trpc6 |
G |
C |
9: 8,656,705 (GRCm39) |
G789R |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,537,095 (GRCm39) |
C34944* |
probably null |
Het |
| Usp53 |
T |
C |
3: 122,754,916 (GRCm39) |
M180V |
probably benign |
Het |
| Vwa3b |
T |
C |
1: 37,193,107 (GRCm39) |
S8P |
probably damaging |
Het |
| Zcwpw1 |
A |
T |
5: 137,795,032 (GRCm39) |
E76V |
probably null |
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 |
|
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 |
|
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'- GGGACACTCAACTGTCTACTACC -3'
(R):5'- TTCTCCACGTCTGATGAGGAAG -3'
Sequencing Primer
(F):5'- TGTCTACTACCACCAGAGATTCC -3'
(R):5'- CCACGTCTGATGAGGAAGGACTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation