Incidental Mutation 'IGL03057:Wdr59'
| ID |
409284 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr59
|
| Ensembl Gene |
ENSMUSG00000031959 |
| Gene Name |
WD repeat domain 59 |
| Synonyms |
5430401O09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03057
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
112175429-112248724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112202750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 598
(R598C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034437]
[ENSMUST00000038193]
[ENSMUST00000211981]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034437
AA Change: R598C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: R598C
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
41 |
91 |
1.37e2 |
SMART |
|
WD40
|
94 |
134 |
9.52e-6 |
SMART |
|
WD40
|
138 |
176 |
4.46e-1 |
SMART |
|
WD40
|
180 |
220 |
2.59e-7 |
SMART |
|
WD40
|
271 |
315 |
8.59e-1 |
SMART |
|
RWD
|
393 |
494 |
4.13e-14 |
SMART |
|
low complexity region
|
620 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
|
Blast:RING
|
941 |
980 |
3e-10 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038193
AA Change: R598C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: R598C
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
41 |
91 |
1.37e2 |
SMART |
|
WD40
|
94 |
134 |
9.52e-6 |
SMART |
|
WD40
|
138 |
176 |
4.46e-1 |
SMART |
|
WD40
|
180 |
220 |
2.59e-7 |
SMART |
|
WD40
|
271 |
315 |
8.59e-1 |
SMART |
|
RWD
|
393 |
494 |
4.13e-14 |
SMART |
|
low complexity region
|
803 |
814 |
N/A |
INTRINSIC |
|
Pfam:Zn_ribbon_17
|
937 |
992 |
2e-14 |
PFAM |
|
Pfam:zinc_ribbon_16
|
949 |
990 |
1.6e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211981
AA Change: R598C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,488,754 (GRCm39) |
A1295V |
possibly damaging |
Het |
| Adgre4 |
T |
C |
17: 56,106,602 (GRCm39) |
|
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,851,493 (GRCm39) |
Y901N |
probably damaging |
Het |
| Bud31 |
A |
G |
5: 145,083,378 (GRCm39) |
T74A |
probably benign |
Het |
| C4b |
C |
A |
17: 34,956,738 (GRCm39) |
|
probably benign |
Het |
| Ccdc92 |
G |
A |
5: 124,912,753 (GRCm39) |
Q259* |
probably null |
Het |
| Ccn4 |
T |
C |
15: 66,763,489 (GRCm39) |
|
probably benign |
Het |
| Chfr |
C |
A |
5: 110,291,475 (GRCm39) |
Q98K |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,338,823 (GRCm39) |
|
probably benign |
Het |
| Cnbd2 |
A |
T |
2: 156,209,592 (GRCm39) |
I512F |
possibly damaging |
Het |
| Cpa2 |
A |
G |
6: 30,557,726 (GRCm39) |
Y346C |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,109 (GRCm39) |
L570P |
probably damaging |
Het |
| Cylc1 |
G |
A |
X: 110,166,370 (GRCm39) |
G217D |
unknown |
Het |
| Dennd2a |
T |
C |
6: 39,485,182 (GRCm39) |
I366V |
probably damaging |
Het |
| Dis3 |
A |
T |
14: 99,327,426 (GRCm39) |
M359K |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,545,088 (GRCm39) |
N848S |
probably damaging |
Het |
| Dyrk3 |
C |
T |
1: 131,056,815 (GRCm39) |
V453I |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,206,161 (GRCm39) |
E358G |
probably damaging |
Het |
| Fam167b |
C |
A |
4: 129,471,960 (GRCm39) |
C70F |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,618,734 (GRCm39) |
Y200* |
probably null |
Het |
| Garin4 |
A |
T |
1: 190,895,141 (GRCm39) |
S501T |
probably benign |
Het |
| Ggh |
T |
C |
4: 20,065,770 (GRCm39) |
V288A |
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,717,586 (GRCm39) |
|
probably benign |
Het |
| Gm28042 |
A |
G |
2: 119,862,637 (GRCm39) |
Y302C |
probably damaging |
Het |
| Gsta2 |
A |
G |
9: 78,241,192 (GRCm39) |
|
probably benign |
Het |
| Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
| Irs4 |
A |
G |
X: 140,505,524 (GRCm39) |
S891P |
unknown |
Het |
| Kcmf1 |
G |
T |
6: 72,820,010 (GRCm39) |
R330S |
probably benign |
Het |
| Kif26a |
G |
T |
12: 112,142,208 (GRCm39) |
E821* |
probably null |
Het |
| L3mbtl1 |
A |
G |
2: 162,809,303 (GRCm39) |
E670G |
probably damaging |
Het |
| Met |
A |
T |
6: 17,558,765 (GRCm39) |
D1131V |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,785,342 (GRCm39) |
E1428G |
probably damaging |
Het |
| Odf2 |
A |
G |
2: 29,813,657 (GRCm39) |
|
probably benign |
Het |
| Ogfod1 |
T |
A |
8: 94,782,766 (GRCm39) |
L294H |
possibly damaging |
Het |
| Or8d1b |
G |
T |
9: 38,887,514 (GRCm39) |
V181F |
probably benign |
Het |
| Pcdhb20 |
A |
T |
18: 37,637,851 (GRCm39) |
I126L |
possibly damaging |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,330 (GRCm39) |
Q108L |
probably benign |
Het |
| Prdm10 |
G |
T |
9: 31,260,481 (GRCm39) |
R645L |
probably damaging |
Het |
| Psmb11 |
T |
A |
14: 54,863,236 (GRCm39) |
C151* |
probably null |
Het |
| Reep1 |
T |
A |
6: 71,784,765 (GRCm39) |
|
probably benign |
Het |
| Reg3a |
G |
A |
6: 78,358,939 (GRCm39) |
A46T |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,331,913 (GRCm39) |
I2374N |
probably damaging |
Het |
| Slc17a7 |
T |
C |
7: 44,820,363 (GRCm39) |
Y273H |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 74,826,260 (GRCm39) |
Y238* |
probably null |
Het |
| Sorcs1 |
T |
A |
19: 50,248,194 (GRCm39) |
K411* |
probably null |
Het |
| Spta1 |
G |
T |
1: 174,008,624 (GRCm39) |
A243S |
probably benign |
Het |
| Tas2r135 |
A |
T |
6: 42,378,061 (GRCm39) |
|
probably benign |
Het |
| Tbx18 |
T |
C |
9: 87,612,882 (GRCm39) |
R6G |
probably damaging |
Het |
| Timp3 |
A |
G |
10: 86,136,815 (GRCm39) |
D33G |
possibly damaging |
Het |
| Ttf1 |
A |
G |
2: 28,961,357 (GRCm39) |
K582E |
probably damaging |
Het |
| Ubr5 |
C |
A |
15: 38,041,150 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,074,200 (GRCm39) |
V53A |
possibly damaging |
Het |
| Ush2a |
G |
T |
1: 188,530,035 (GRCm39) |
G3275W |
probably damaging |
Het |
| Usp19 |
G |
A |
9: 108,376,329 (GRCm39) |
V1023M |
probably benign |
Het |
| Usp26 |
T |
C |
X: 50,846,135 (GRCm39) |
I47V |
possibly damaging |
Het |
| Vapa |
A |
G |
17: 65,901,902 (GRCm39) |
V76A |
probably damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,646,058 (GRCm39) |
N1993S |
probably damaging |
Het |
|
| Other mutations in Wdr59 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00737:Wdr59
|
APN |
8 |
112,185,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01330:Wdr59
|
APN |
8 |
112,208,565 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01413:Wdr59
|
APN |
8 |
112,227,706 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02306:Wdr59
|
APN |
8 |
112,219,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Wdr59
|
APN |
8 |
112,188,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03204:Wdr59
|
APN |
8 |
112,212,002 (GRCm39) |
missense |
probably benign |
0.05 |
|
electron
|
UTSW |
8 |
112,185,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
photon
|
UTSW |
8 |
112,187,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0056:Wdr59
|
UTSW |
8 |
112,207,239 (GRCm39) |
splice site |
probably benign |
|
|
R0096:Wdr59
|
UTSW |
8 |
112,231,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Wdr59
|
UTSW |
8 |
112,231,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Wdr59
|
UTSW |
8 |
112,207,172 (GRCm39) |
small deletion |
probably benign |
|
|
R0452:Wdr59
|
UTSW |
8 |
112,248,604 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0472:Wdr59
|
UTSW |
8 |
112,213,629 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0501:Wdr59
|
UTSW |
8 |
112,185,579 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0526:Wdr59
|
UTSW |
8 |
112,207,172 (GRCm39) |
small deletion |
probably benign |
|
|
R0534:Wdr59
|
UTSW |
8 |
112,207,172 (GRCm39) |
small deletion |
probably benign |
|
|
R0601:Wdr59
|
UTSW |
8 |
112,207,172 (GRCm39) |
small deletion |
probably benign |
|
|
R1144:Wdr59
|
UTSW |
8 |
112,213,576 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1415:Wdr59
|
UTSW |
8 |
112,225,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1571:Wdr59
|
UTSW |
8 |
112,177,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1661:Wdr59
|
UTSW |
8 |
112,205,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Wdr59
|
UTSW |
8 |
112,205,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Wdr59
|
UTSW |
8 |
112,211,972 (GRCm39) |
missense |
probably benign |
|
|
R1856:Wdr59
|
UTSW |
8 |
112,202,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Wdr59
|
UTSW |
8 |
112,185,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Wdr59
|
UTSW |
8 |
112,213,582 (GRCm39) |
nonsense |
probably null |
|
|
R1965:Wdr59
|
UTSW |
8 |
112,177,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Wdr59
|
UTSW |
8 |
112,177,535 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1977:Wdr59
|
UTSW |
8 |
112,185,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2019:Wdr59
|
UTSW |
8 |
112,193,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4245:Wdr59
|
UTSW |
8 |
112,216,996 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4471:Wdr59
|
UTSW |
8 |
112,193,419 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4820:Wdr59
|
UTSW |
8 |
112,207,446 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5198:Wdr59
|
UTSW |
8 |
112,208,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5540:Wdr59
|
UTSW |
8 |
112,211,816 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5571:Wdr59
|
UTSW |
8 |
112,192,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6166:Wdr59
|
UTSW |
8 |
112,199,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6732:Wdr59
|
UTSW |
8 |
112,227,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Wdr59
|
UTSW |
8 |
112,202,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Wdr59
|
UTSW |
8 |
112,185,672 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6841:Wdr59
|
UTSW |
8 |
112,223,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6888:Wdr59
|
UTSW |
8 |
112,177,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6974:Wdr59
|
UTSW |
8 |
112,187,420 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6982:Wdr59
|
UTSW |
8 |
112,187,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7066:Wdr59
|
UTSW |
8 |
112,192,477 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7154:Wdr59
|
UTSW |
8 |
112,185,367 (GRCm39) |
missense |
|
|
|
R7176:Wdr59
|
UTSW |
8 |
112,219,388 (GRCm39) |
missense |
|
|
|
R7286:Wdr59
|
UTSW |
8 |
112,192,494 (GRCm39) |
missense |
|
|
|
R7332:Wdr59
|
UTSW |
8 |
112,220,986 (GRCm39) |
missense |
|
|
|
R7537:Wdr59
|
UTSW |
8 |
112,217,001 (GRCm39) |
missense |
|
|
|
R7614:Wdr59
|
UTSW |
8 |
112,219,394 (GRCm39) |
missense |
|
|
|
R7758:Wdr59
|
UTSW |
8 |
112,207,117 (GRCm39) |
missense |
|
|
|
R7800:Wdr59
|
UTSW |
8 |
112,248,570 (GRCm39) |
missense |
|
|
|
R7861:Wdr59
|
UTSW |
8 |
112,220,912 (GRCm39) |
missense |
|
|
|
R8137:Wdr59
|
UTSW |
8 |
112,212,011 (GRCm39) |
missense |
|
|
|
R8726:Wdr59
|
UTSW |
8 |
112,223,466 (GRCm39) |
missense |
|
|
|
R8942:Wdr59
|
UTSW |
8 |
112,211,808 (GRCm39) |
missense |
probably benign |
|
|
R9318:Wdr59
|
UTSW |
8 |
112,177,700 (GRCm39) |
missense |
|
|
|
X0026:Wdr59
|
UTSW |
8 |
112,205,972 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2016-08-02 |
Incidental Mutation