Incidental Mutation 'IGL03169:Wdr91'
ID |
411759 |
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 # |
IGL03169
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
34857361-34887766 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34882426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 241
(S241L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079974
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081214]
[ENSMUST00000133336]
[ENSMUST00000146968]
[ENSMUST00000149448]
[ENSMUST00000152488]
|
AlphaFold |
Q7TMQ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081214
AA Change: S241L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000079974 Gene: ENSMUSG00000058486 AA Change: S241L
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 |
possibly damaging
Transcript: ENSMUST00000146968
AA Change: S241L
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138406 Gene: ENSMUSG00000058486 AA Change: S241L
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 |
possibly damaging
Transcript: ENSMUST00000149448
AA Change: S189L
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000120164 Gene: ENSMUSG00000058486 AA Change: S189L
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
A |
T |
8: 84,658,624 (GRCm39) |
I548F |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,652,019 (GRCm39) |
Q2995L |
probably damaging |
Het |
Capn9 |
T |
C |
8: 125,332,616 (GRCm39) |
I485T |
probably damaging |
Het |
Ccdc17 |
T |
A |
4: 116,454,957 (GRCm39) |
I197N |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,642,928 (GRCm39) |
L222Q |
probably damaging |
Het |
Ctla4 |
T |
C |
1: 60,953,764 (GRCm39) |
|
probably benign |
Het |
Cyp2d12 |
T |
C |
15: 82,443,492 (GRCm39) |
S485P |
probably benign |
Het |
Ddx50 |
A |
T |
10: 62,457,166 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
C |
A |
2: 156,552,938 (GRCm39) |
|
probably null |
Het |
Dpysl4 |
G |
A |
7: 138,679,826 (GRCm39) |
|
probably null |
Het |
Erbin |
T |
C |
13: 103,977,740 (GRCm39) |
M606V |
possibly damaging |
Het |
Fat4 |
T |
G |
3: 39,011,547 (GRCm39) |
S2216A |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,429,713 (GRCm39) |
N2779S |
probably benign |
Het |
Fut1 |
T |
C |
7: 45,268,457 (GRCm39) |
V82A |
probably benign |
Het |
Gnb1l |
C |
T |
16: 18,359,205 (GRCm39) |
A2V |
probably damaging |
Het |
Hdac1 |
C |
T |
4: 129,412,624 (GRCm39) |
E327K |
probably null |
Het |
Hdlbp |
A |
G |
1: 93,344,309 (GRCm39) |
V819A |
possibly damaging |
Het |
Ift122 |
T |
C |
6: 115,882,922 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
T |
C |
13: 95,867,785 (GRCm39) |
|
probably null |
Het |
Kntc1 |
T |
C |
5: 123,913,884 (GRCm39) |
V613A |
possibly damaging |
Het |
Lamb1 |
T |
C |
12: 31,373,645 (GRCm39) |
V1458A |
probably damaging |
Het |
Lef1 |
A |
G |
3: 130,988,312 (GRCm39) |
K265R |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,353,538 (GRCm39) |
D574G |
probably damaging |
Het |
Mterf2 |
C |
T |
10: 84,956,324 (GRCm39) |
R100H |
probably benign |
Het |
Nr1d2 |
C |
T |
14: 18,216,703 (GRCm38) |
R155Q |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,964,122 (GRCm39) |
T3304A |
probably damaging |
Het |
Or2j3 |
G |
T |
17: 38,615,992 (GRCm39) |
S120Y |
probably damaging |
Het |
Or4a78 |
A |
G |
2: 89,497,831 (GRCm39) |
I133T |
possibly damaging |
Het |
Os9 |
G |
A |
10: 126,934,463 (GRCm39) |
T391M |
probably benign |
Het |
Parp6 |
C |
A |
9: 59,557,300 (GRCm39) |
Y131* |
probably null |
Het |
Plxdc1 |
T |
C |
11: 97,823,146 (GRCm39) |
E358G |
possibly damaging |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Ptprc |
A |
T |
1: 138,041,357 (GRCm39) |
S167R |
probably benign |
Het |
Rad54l2 |
T |
C |
9: 106,596,263 (GRCm39) |
D225G |
probably benign |
Het |
Rgs7 |
T |
C |
1: 175,098,401 (GRCm39) |
I53V |
possibly damaging |
Het |
Rpa1 |
T |
C |
11: 75,192,183 (GRCm39) |
D607G |
probably damaging |
Het |
Shisa5 |
T |
A |
9: 108,885,560 (GRCm39) |
H213Q |
probably damaging |
Het |
Syncrip |
A |
G |
9: 88,338,496 (GRCm39) |
|
probably benign |
Het |
Taf4b |
T |
G |
18: 14,954,592 (GRCm39) |
V556G |
probably damaging |
Het |
Tgif1 |
A |
C |
17: 71,151,836 (GRCm39) |
S258R |
possibly damaging |
Het |
Tmem106a |
T |
C |
11: 101,481,284 (GRCm39) |
|
probably benign |
Het |
Vmn1r113 |
A |
T |
7: 20,522,012 (GRCm39) |
H268L |
probably benign |
Het |
Vmn1r40 |
A |
T |
6: 89,692,005 (GRCm39) |
Q274L |
probably damaging |
Het |
Wdr70 |
A |
C |
15: 7,913,821 (GRCm39) |
I609M |
possibly damaging |
Het |
Zfyve9 |
T |
C |
4: 108,553,022 (GRCm39) |
Y713C |
probably 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 |
|
IGL01340:Wdr91
|
APN |
6 |
34,881,514 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
2016-08-02 |