Incidental Mutation 'IGL03027:Wdr59'
ID |
408212 |
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 # |
IGL03027
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
112175429-112248724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 112188824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 720
(A720V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034437]
[ENSMUST00000038193]
[ENSMUST00000211981]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034437
AA Change: A739V
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000034437 Gene: ENSMUSG00000031959 AA Change: A739V
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: A720V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043671 Gene: ENSMUSG00000031959 AA Change: A720V
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: A720V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
A |
T |
17: 43,607,605 (GRCm39) |
Y108F |
probably damaging |
Het |
Afap1 |
T |
C |
5: 36,119,094 (GRCm39) |
I243T |
probably benign |
Het |
Ano5 |
A |
G |
7: 51,216,025 (GRCm39) |
D320G |
probably damaging |
Het |
Arhgef1 |
T |
A |
7: 24,623,157 (GRCm39) |
I423K |
probably damaging |
Het |
Casp9 |
A |
G |
4: 141,539,584 (GRCm39) |
E410G |
probably benign |
Het |
Ccdc39 |
A |
C |
3: 33,884,267 (GRCm39) |
H358Q |
probably benign |
Het |
Ces5a |
A |
T |
8: 94,249,742 (GRCm39) |
|
probably null |
Het |
Clip1 |
A |
T |
5: 123,759,919 (GRCm39) |
M935K |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,548,833 (GRCm39) |
Y2171H |
probably benign |
Het |
Cyp2f2 |
A |
T |
7: 26,831,996 (GRCm39) |
N417I |
possibly damaging |
Het |
Dock3 |
G |
A |
9: 106,870,677 (GRCm39) |
P579L |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,866,164 (GRCm39) |
M1209V |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,958,450 (GRCm39) |
T334A |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,225,106 (GRCm39) |
I1171F |
possibly damaging |
Het |
Eya1 |
G |
T |
1: 14,241,190 (GRCm39) |
H576N |
probably damaging |
Het |
Fam117a |
A |
G |
11: 95,268,399 (GRCm39) |
T267A |
probably benign |
Het |
Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
Gabra6 |
T |
C |
11: 42,205,980 (GRCm39) |
H291R |
probably damaging |
Het |
Gm7145 |
T |
C |
1: 117,895,417 (GRCm39) |
S27P |
probably benign |
Het |
Gpt |
C |
T |
15: 76,582,289 (GRCm39) |
|
probably benign |
Het |
Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
Hif1a |
C |
T |
12: 73,987,251 (GRCm39) |
P448L |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,684,290 (GRCm39) |
V427I |
probably benign |
Het |
Ipo8 |
C |
A |
6: 148,678,737 (GRCm39) |
V954L |
probably benign |
Het |
Kdm5a |
G |
T |
6: 120,351,951 (GRCm39) |
|
probably null |
Het |
Klhl36 |
T |
A |
8: 120,603,229 (GRCm39) |
S495T |
probably benign |
Het |
Lpar5 |
T |
A |
6: 125,059,203 (GRCm39) |
L308Q |
probably damaging |
Het |
Lrp2 |
T |
G |
2: 69,367,897 (GRCm39) |
D205A |
probably benign |
Het |
Lrriq1 |
A |
G |
10: 103,063,057 (GRCm39) |
I83T |
probably benign |
Het |
Mapk8ip2 |
A |
T |
15: 89,342,310 (GRCm39) |
D507V |
probably damaging |
Het |
Mical1 |
T |
C |
10: 41,355,501 (GRCm39) |
|
probably benign |
Het |
Myef2 |
T |
A |
2: 124,930,954 (GRCm39) |
H539L |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,221,007 (GRCm39) |
E972G |
probably damaging |
Het |
Naip5 |
A |
G |
13: 100,359,524 (GRCm39) |
Y571H |
probably benign |
Het |
Nfasc |
T |
A |
1: 132,538,207 (GRCm39) |
N478I |
probably damaging |
Het |
Or6c1b |
A |
G |
10: 129,272,780 (GRCm39) |
Y33C |
probably damaging |
Het |
Pde2a |
A |
T |
7: 101,130,627 (GRCm39) |
Q89L |
probably benign |
Het |
Ppard |
C |
A |
17: 28,518,765 (GRCm39) |
T422K |
possibly damaging |
Het |
Ppp1r13b |
G |
T |
12: 111,796,830 (GRCm39) |
Y904* |
probably null |
Het |
Ptx4 |
T |
A |
17: 25,344,022 (GRCm39) |
I424K |
possibly damaging |
Het |
Rab19 |
A |
G |
6: 39,360,927 (GRCm39) |
D25G |
probably damaging |
Het |
Rbl2 |
T |
A |
8: 91,805,534 (GRCm39) |
I197N |
possibly damaging |
Het |
Rttn |
A |
G |
18: 88,997,814 (GRCm39) |
D273G |
probably damaging |
Het |
Sec16a |
G |
A |
2: 26,313,601 (GRCm39) |
R1920C |
probably benign |
Het |
Sec23b |
A |
T |
2: 144,429,465 (GRCm39) |
N731I |
possibly damaging |
Het |
Serpinb9d |
G |
A |
13: 33,386,698 (GRCm39) |
W255* |
probably null |
Het |
Sim2 |
G |
A |
16: 93,910,351 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,920,167 (GRCm39) |
|
probably null |
Het |
Tmem176b |
C |
T |
6: 48,812,573 (GRCm39) |
A131T |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,348,494 (GRCm39) |
V332D |
probably damaging |
Het |
Trgc1 |
G |
T |
13: 19,398,563 (GRCm39) |
G97* |
probably null |
Het |
Tuba3b |
T |
A |
6: 145,565,117 (GRCm39) |
L195Q |
probably damaging |
Het |
Ubc |
A |
T |
5: 125,464,565 (GRCm39) |
V254D |
probably damaging |
Het |
Ube4b |
G |
T |
4: 149,465,734 (GRCm39) |
P239T |
probably damaging |
Het |
Vars1 |
G |
T |
17: 35,232,663 (GRCm39) |
M862I |
probably damaging |
Het |
Vmn2r66 |
T |
C |
7: 84,644,777 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
G |
A |
8: 109,519,820 (GRCm39) |
R314Q |
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 |
IGL03057:Wdr59
|
APN |
8 |
112,202,750 (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 |