Incidental Mutation 'IGL03104:Wdr91'
| ID |
418891 |
| 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: 0.165)
|
| Stock # |
IGL03104
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
34857361-34887766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34882491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 219
(E219D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081214]
[ENSMUST00000133336]
[ENSMUST00000146968]
[ENSMUST00000149448]
[ENSMUST00000152488]
|
| AlphaFold |
Q7TMQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081214
AA Change: E219D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000079974
Gene: ENSMUSG00000058486
AA Change: E219D
| 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: E219D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000138406
Gene: ENSMUSG00000058486
AA Change: E219D
| 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
AA Change: E167D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120164
Gene: ENSMUSG00000058486
AA Change: E167D
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
C |
A |
1: 58,321,918 (GRCm39) |
T70K |
probably benign |
Het |
| Armt1 |
T |
A |
10: 4,389,615 (GRCm39) |
Y91N |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,120,934 (GRCm39) |
L46S |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,941,743 (GRCm39) |
S1488P |
probably damaging |
Het |
| Coro7 |
T |
A |
16: 4,446,990 (GRCm39) |
E793V |
probably damaging |
Het |
| Ctnnbl1 |
G |
T |
2: 157,732,885 (GRCm39) |
R555L |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,743,666 (GRCm39) |
C268R |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,847,260 (GRCm39) |
M1684K |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,178,384 (GRCm39) |
C2092* |
probably null |
Het |
| Dtx1 |
T |
A |
5: 120,833,030 (GRCm39) |
Q136L |
possibly damaging |
Het |
| Egln3 |
C |
T |
12: 54,249,981 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,827,504 (GRCm39) |
Y575* |
probably null |
Het |
| Entpd5 |
A |
T |
12: 84,431,022 (GRCm39) |
V310E |
probably damaging |
Het |
| Fkbp5 |
A |
G |
17: 28,634,946 (GRCm39) |
F188L |
probably damaging |
Het |
| Frrs1 |
T |
C |
3: 116,675,431 (GRCm39) |
S120P |
probably benign |
Het |
| Gadl1 |
T |
C |
9: 115,903,108 (GRCm39) |
I479T |
possibly damaging |
Het |
| Gfra2 |
A |
T |
14: 71,205,725 (GRCm39) |
M106L |
probably benign |
Het |
| Gm17455 |
T |
A |
10: 60,239,060 (GRCm39) |
C108* |
probably null |
Het |
| Grhpr |
A |
G |
4: 44,983,867 (GRCm39) |
|
probably benign |
Het |
| Hsp90ab1 |
G |
A |
17: 45,882,449 (GRCm39) |
R82C |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,226,905 (GRCm39) |
Y2256C |
probably damaging |
Het |
| Ivd |
A |
T |
2: 118,703,384 (GRCm39) |
I160F |
probably benign |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,450 (GRCm39) |
C67R |
unknown |
Het |
| Lhx4 |
A |
T |
1: 155,580,967 (GRCm39) |
V186E |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,631,958 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Map3k5 |
C |
T |
10: 20,007,801 (GRCm39) |
S1202L |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,770,319 (GRCm39) |
N108K |
probably damaging |
Het |
| Mov10 |
G |
A |
3: 104,704,623 (GRCm39) |
R763W |
probably damaging |
Het |
| Mto1 |
T |
C |
9: 78,356,802 (GRCm39) |
S106P |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,876,233 (GRCm39) |
|
probably benign |
Het |
| Or10j27 |
A |
G |
1: 172,958,526 (GRCm39) |
V86A |
probably benign |
Het |
| Or8s10 |
A |
G |
15: 98,336,127 (GRCm39) |
Y259C |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,151,532 (GRCm39) |
|
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,190,004 (GRCm39) |
Y394C |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,388,904 (GRCm39) |
S377T |
probably benign |
Het |
| Sirpd |
G |
T |
3: 15,397,283 (GRCm39) |
|
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,015,946 (GRCm39) |
S403P |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,297,231 (GRCm39) |
T480A |
probably damaging |
Het |
| Slu7 |
G |
A |
11: 43,332,883 (GRCm39) |
V315I |
probably benign |
Het |
| St6galnac3 |
T |
C |
3: 152,911,115 (GRCm39) |
E282G |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,685 (GRCm39) |
V855A |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,962,717 (GRCm39) |
D350G |
probably benign |
Het |
| Vmn1r53 |
T |
A |
6: 90,200,944 (GRCm39) |
K127* |
probably null |
Het |
| Vmn1r72 |
T |
G |
7: 11,403,812 (GRCm39) |
H212P |
probably damaging |
Het |
| Vmn2r86 |
T |
A |
10: 130,282,501 (GRCm39) |
Q705L |
probably damaging |
Het |
| Vps33b |
C |
T |
7: 79,925,831 (GRCm39) |
R93C |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,461,762 (GRCm39) |
T1139I |
unknown |
Het |
| Zc3hav1 |
T |
A |
6: 38,317,278 (GRCm39) |
K107N |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,187,784 (GRCm39) |
E1150G |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation