Incidental Mutation 'IGL01340:Wdr91'
ID |
74815 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdr91
|
Ensembl Gene |
ENSMUSG00000058486 |
Gene Name |
WD repeat domain 91 |
Synonyms |
9530020G05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
IGL01340
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
34857361-34887766 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34881514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 278
(S278P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079974
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081214]
[ENSMUST00000133336]
[ENSMUST00000146968]
[ENSMUST00000149448]
[ENSMUST00000152488]
|
AlphaFold |
Q7TMQ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081214
AA Change: S278P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000079974 Gene: ENSMUSG00000058486 AA Change: S278P
Domain | Start | End | E-Value | Type |
Blast:LisH
|
5 |
36 |
3e-6 |
BLAST |
coiled coil region
|
179 |
228 |
N/A |
INTRINSIC |
low complexity region
|
263 |
279 |
N/A |
INTRINSIC |
WD40
|
393 |
437 |
6.34e-2 |
SMART |
WD40
|
442 |
480 |
3.42e1 |
SMART |
Blast:WD40
|
483 |
525 |
1e-19 |
BLAST |
WD40
|
552 |
591 |
1.88e-4 |
SMART |
WD40
|
594 |
633 |
3.96e-3 |
SMART |
WD40
|
701 |
742 |
8.59e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133336
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134830
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145765
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146968
AA Change: S278P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138406 Gene: ENSMUSG00000058486 AA Change: S278P
Domain | Start | End | E-Value | Type |
Blast:LisH
|
5 |
36 |
2e-6 |
BLAST |
coiled coil region
|
179 |
228 |
N/A |
INTRINSIC |
low complexity region
|
263 |
279 |
N/A |
INTRINSIC |
WD40
|
393 |
437 |
6.34e-2 |
SMART |
WD40
|
442 |
480 |
3.42e1 |
SMART |
Blast:WD40
|
483 |
525 |
1e-19 |
BLAST |
WD40
|
552 |
591 |
1.48e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149448
|
SMART Domains |
Protein: ENSMUSP00000120164 Gene: ENSMUSG00000058486
Domain | Start | End | E-Value | Type |
coiled coil region
|
127 |
176 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152488
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201569
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
A |
11: 110,021,453 (GRCm39) |
I1086L |
probably benign |
Het |
Adam17 |
A |
T |
12: 21,380,058 (GRCm39) |
C630* |
probably null |
Het |
Adgrg5 |
T |
C |
8: 95,664,257 (GRCm39) |
L289P |
probably damaging |
Het |
Aplp1 |
G |
A |
7: 30,143,843 (GRCm39) |
T64I |
probably damaging |
Het |
Bdh1 |
T |
A |
16: 31,275,661 (GRCm39) |
W261R |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,581,672 (GRCm39) |
I202N |
possibly damaging |
Het |
Cd209c |
C |
T |
8: 3,995,892 (GRCm39) |
R6H |
probably benign |
Het |
Cfap221 |
T |
A |
1: 119,881,350 (GRCm39) |
I371F |
possibly damaging |
Het |
Cfap44 |
A |
G |
16: 44,224,493 (GRCm39) |
Y67C |
probably damaging |
Het |
Cilp |
T |
C |
9: 65,183,256 (GRCm39) |
S387P |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,487,165 (GRCm39) |
D598G |
probably damaging |
Het |
Col5a1 |
T |
C |
2: 27,850,463 (GRCm39) |
L520P |
unknown |
Het |
Cpvl |
A |
T |
6: 53,873,436 (GRCm39) |
Y433* |
probably null |
Het |
Cxcl1 |
G |
T |
5: 91,039,434 (GRCm39) |
C59F |
probably damaging |
Het |
Cyth3 |
T |
A |
5: 143,670,190 (GRCm39) |
L33* |
probably null |
Het |
Dnah2 |
T |
C |
11: 69,384,010 (GRCm39) |
K1069E |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,834,109 (GRCm39) |
|
probably benign |
Het |
Fam83h |
T |
A |
15: 75,875,885 (GRCm39) |
D484V |
probably damaging |
Het |
Igsf3 |
C |
A |
3: 101,346,995 (GRCm39) |
Y663* |
probably null |
Het |
Kmt5c |
C |
T |
7: 4,745,140 (GRCm39) |
R44* |
probably null |
Het |
Kxd1 |
T |
C |
8: 70,968,093 (GRCm39) |
|
probably null |
Het |
Lars1 |
A |
G |
18: 42,335,642 (GRCm39) |
V1158A |
probably benign |
Het |
Lmf2 |
A |
G |
15: 89,237,075 (GRCm39) |
F413S |
probably damaging |
Het |
Mc4r |
C |
T |
18: 66,992,229 (GRCm39) |
A295T |
probably benign |
Het |
Mrc1 |
T |
C |
2: 14,314,895 (GRCm39) |
|
probably null |
Het |
Mtmr7 |
T |
C |
8: 41,050,465 (GRCm39) |
Y110C |
probably damaging |
Het |
Myd88 |
A |
C |
9: 119,166,418 (GRCm39) |
|
probably benign |
Het |
Ndc1 |
T |
C |
4: 107,231,344 (GRCm39) |
V95A |
probably damaging |
Het |
Ntrk1 |
T |
A |
3: 87,696,021 (GRCm39) |
E163V |
possibly damaging |
Het |
Or4p8 |
T |
C |
2: 88,727,321 (GRCm39) |
T207A |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,242,109 (GRCm39) |
D1491V |
possibly damaging |
Het |
Phc3 |
T |
A |
3: 30,984,033 (GRCm39) |
I673F |
possibly damaging |
Het |
Pkhd1 |
A |
T |
1: 20,593,201 (GRCm39) |
N1637K |
probably benign |
Het |
Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
Rgma |
T |
C |
7: 73,067,078 (GRCm39) |
F111S |
probably damaging |
Het |
Slco1a6 |
A |
T |
6: 142,055,109 (GRCm39) |
N278K |
possibly damaging |
Het |
Slfn9 |
A |
T |
11: 82,872,577 (GRCm39) |
F720I |
probably benign |
Het |
Snd1 |
T |
A |
6: 28,883,368 (GRCm39) |
V741E |
probably benign |
Het |
Snx6 |
C |
T |
12: 54,801,094 (GRCm39) |
R185Q |
probably damaging |
Het |
Spata31g1 |
A |
C |
4: 42,971,984 (GRCm39) |
E439A |
possibly damaging |
Het |
Telo2 |
G |
A |
17: 25,319,103 (GRCm39) |
|
probably benign |
Het |
Xab2 |
A |
T |
8: 3,664,381 (GRCm39) |
D277E |
probably damaging |
Het |
Zbbx |
T |
C |
3: 75,012,957 (GRCm39) |
E158G |
possibly damaging |
Het |
|
Other mutations in Wdr91 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01336:Wdr91
|
APN |
6 |
34,886,478 (GRCm39) |
splice site |
probably benign |
|
IGL01402:Wdr91
|
APN |
6 |
34,865,998 (GRCm39) |
missense |
probably benign |
|
IGL02632:Wdr91
|
APN |
6 |
34,865,977 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03104:Wdr91
|
APN |
6 |
34,882,491 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03169:Wdr91
|
APN |
6 |
34,882,426 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0080:Wdr91
|
UTSW |
6 |
34,883,620 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0082:Wdr91
|
UTSW |
6 |
34,883,620 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0422:Wdr91
|
UTSW |
6 |
34,857,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R1738:Wdr91
|
UTSW |
6 |
34,861,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Wdr91
|
UTSW |
6 |
34,869,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Wdr91
|
UTSW |
6 |
34,869,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R3115:Wdr91
|
UTSW |
6 |
34,882,522 (GRCm39) |
missense |
probably damaging |
0.98 |
R3116:Wdr91
|
UTSW |
6 |
34,882,522 (GRCm39) |
missense |
probably damaging |
0.98 |
R4261:Wdr91
|
UTSW |
6 |
34,881,457 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4760:Wdr91
|
UTSW |
6 |
34,885,234 (GRCm39) |
missense |
probably damaging |
0.96 |
R4977:Wdr91
|
UTSW |
6 |
34,887,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R5093:Wdr91
|
UTSW |
6 |
34,869,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R5910:Wdr91
|
UTSW |
6 |
34,868,422 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6788:Wdr91
|
UTSW |
6 |
34,863,754 (GRCm39) |
missense |
probably damaging |
0.99 |
R7139:Wdr91
|
UTSW |
6 |
34,885,198 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7195:Wdr91
|
UTSW |
6 |
34,866,209 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7268:Wdr91
|
UTSW |
6 |
34,869,375 (GRCm39) |
missense |
probably benign |
|
R7303:Wdr91
|
UTSW |
6 |
34,861,258 (GRCm39) |
missense |
probably benign |
0.01 |
R7326:Wdr91
|
UTSW |
6 |
34,881,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R7341:Wdr91
|
UTSW |
6 |
34,868,395 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7362:Wdr91
|
UTSW |
6 |
34,866,050 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8098:Wdr91
|
UTSW |
6 |
34,863,817 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9424:Wdr91
|
UTSW |
6 |
34,861,302 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9664:Wdr91
|
UTSW |
6 |
34,865,961 (GRCm39) |
missense |
probably benign |
0.01 |
X0026:Wdr91
|
UTSW |
6 |
34,886,307 (GRCm39) |
missense |
probably benign |
0.03 |
Z1177:Wdr91
|
UTSW |
6 |
34,868,435 (GRCm39) |
missense |
probably benign |
0.30 |
|
Posted On |
2013-10-07 |