Incidental Mutation 'IGL02352:Wdr95'
| ID |
289513 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr95
|
| Ensembl Gene |
ENSMUSG00000029658 |
| Gene Name |
WD40 repeat domain 95 |
| Synonyms |
4930434E21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL02352
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
149452144-149535359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 149504084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 155
(V155M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110502]
[ENSMUST00000201525]
[ENSMUST00000202902]
|
| AlphaFold |
D3Z7A8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110502
AA Change: V155M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106128
Gene: ENSMUSG00000029658
AA Change: V155M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD40
|
4 |
28 |
3.3e-3 |
PFAM |
|
WD40
|
32 |
71 |
4.38e-5 |
SMART |
|
WD40
|
120 |
159 |
3.27e-4 |
SMART |
|
WD40
|
162 |
203 |
1.71e-7 |
SMART |
|
WD40
|
206 |
249 |
3.57e0 |
SMART |
|
WD40
|
263 |
301 |
1.7e-2 |
SMART |
|
Blast:WD40
|
315 |
363 |
3e-14 |
BLAST |
|
Blast:WD40
|
367 |
408 |
4e-13 |
BLAST |
|
WD40
|
421 |
460 |
2.01e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201525
AA Change: V139M
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144234
Gene: ENSMUSG00000029658
AA Change: V139M
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
104 |
143 |
2e-6 |
SMART |
|
WD40
|
146 |
187 |
1.1e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202635
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202902
AA Change: V297M
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144385
Gene: ENSMUSG00000029658
AA Change: V297M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
44 |
83 |
9e-11 |
BLAST |
|
WD40
|
132 |
170 |
1.61e-3 |
SMART |
|
WD40
|
174 |
213 |
4.38e-5 |
SMART |
|
WD40
|
262 |
301 |
3.27e-4 |
SMART |
|
WD40
|
304 |
345 |
1.71e-7 |
SMART |
|
WD40
|
348 |
391 |
3.57e0 |
SMART |
|
WD40
|
405 |
443 |
1.7e-2 |
SMART |
|
Blast:WD40
|
457 |
505 |
3e-14 |
BLAST |
|
Blast:WD40
|
509 |
550 |
4e-13 |
BLAST |
|
WD40
|
563 |
602 |
2.01e-4 |
SMART |
|
| 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 |
|---|
| 4930447C04Rik |
A |
C |
12: 72,941,829 (GRCm39) |
|
probably null |
Het |
| Abca5 |
T |
A |
11: 110,166,156 (GRCm39) |
N1540I |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,179,562 (GRCm39) |
|
probably null |
Het |
| Aldh2 |
T |
C |
5: 121,713,960 (GRCm39) |
E128G |
probably null |
Het |
| Anln |
A |
G |
9: 22,279,708 (GRCm39) |
V494A |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,715,288 (GRCm39) |
L50* |
probably null |
Het |
| Atp13a3 |
A |
G |
16: 30,169,902 (GRCm39) |
I392T |
probably damaging |
Het |
| C1qtnf5 |
A |
G |
9: 44,019,631 (GRCm39) |
E85G |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,020,990 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
G |
A |
1: 54,311,680 (GRCm39) |
R222H |
probably benign |
Het |
| Cdk5rap3 |
A |
T |
11: 96,807,003 (GRCm39) |
I9N |
probably damaging |
Het |
| Cmip |
A |
T |
8: 118,137,994 (GRCm39) |
|
probably benign |
Het |
| Cyp21a1 |
A |
G |
17: 35,023,196 (GRCm39) |
Y60H |
probably damaging |
Het |
| Cyp2d11 |
A |
G |
15: 82,278,121 (GRCm39) |
W10R |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,483,378 (GRCm39) |
Y2076H |
probably damaging |
Het |
| Dpcd |
G |
T |
19: 45,565,493 (GRCm39) |
A156S |
probably benign |
Het |
| Egflam |
T |
C |
15: 7,263,706 (GRCm39) |
N748S |
probably benign |
Het |
| Fam227b |
A |
G |
2: 125,988,174 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,540,073 (GRCm39) |
I654N |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,457,404 (GRCm39) |
N228K |
probably benign |
Het |
| Igkv3-2 |
T |
C |
6: 70,675,474 (GRCm39) |
L8P |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,009,267 (GRCm39) |
F734L |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,079,370 (GRCm39) |
Y276C |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,208 (GRCm39) |
S178T |
possibly damaging |
Het |
| Marchf6 |
C |
T |
15: 31,509,905 (GRCm39) |
C28Y |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,081,931 (GRCm39) |
T356A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,891,853 (GRCm39) |
E6893G |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,927 (GRCm39) |
L113P |
probably damaging |
Het |
| Pate7 |
A |
T |
9: 35,689,180 (GRCm39) |
M1K |
probably null |
Het |
| Pgap2 |
G |
T |
7: 101,885,346 (GRCm39) |
V71F |
probably damaging |
Het |
| Prob1 |
T |
G |
18: 35,785,893 (GRCm39) |
E787A |
possibly damaging |
Het |
| Psmd2 |
C |
A |
16: 20,475,691 (GRCm39) |
D430E |
probably benign |
Het |
| Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,441,803 (GRCm39) |
|
probably benign |
Het |
| Sgsm2 |
G |
T |
11: 74,782,900 (GRCm39) |
|
probably benign |
Het |
| Slc38a9 |
A |
G |
13: 112,826,720 (GRCm39) |
I153V |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,631,251 (GRCm39) |
D628E |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,362,727 (GRCm39) |
S145P |
probably benign |
Het |
| Sv2b |
T |
C |
7: 74,786,197 (GRCm39) |
T408A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,261,122 (GRCm39) |
C1626R |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,939,043 (GRCm39) |
T217M |
possibly damaging |
Het |
| Wsb1 |
G |
A |
11: 79,141,838 (GRCm39) |
L60F |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 108,267,278 (GRCm39) |
R297* |
probably null |
Het |
| Xkr6 |
T |
C |
14: 64,057,156 (GRCm39) |
Y356H |
unknown |
Het |
|
| Other mutations in Wdr95 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Wdr95
|
APN |
5 |
149,518,709 (GRCm39) |
critical splice acceptor site |
probably benign |
0.00 |
|
IGL02359:Wdr95
|
APN |
5 |
149,504,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02478:Wdr95
|
APN |
5 |
149,519,786 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03078:Wdr95
|
APN |
5 |
149,535,062 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03201:Wdr95
|
APN |
5 |
149,505,352 (GRCm39) |
splice site |
probably null |
|
|
P0037:Wdr95
|
UTSW |
5 |
149,511,536 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0115:Wdr95
|
UTSW |
5 |
149,487,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Wdr95
|
UTSW |
5 |
149,504,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Wdr95
|
UTSW |
5 |
149,511,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Wdr95
|
UTSW |
5 |
149,497,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1104:Wdr95
|
UTSW |
5 |
149,529,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1233:Wdr95
|
UTSW |
5 |
149,518,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1233:Wdr95
|
UTSW |
5 |
149,505,323 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1344:Wdr95
|
UTSW |
5 |
149,511,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Wdr95
|
UTSW |
5 |
149,522,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1623:Wdr95
|
UTSW |
5 |
149,497,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Wdr95
|
UTSW |
5 |
149,516,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1664:Wdr95
|
UTSW |
5 |
149,518,752 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1686:Wdr95
|
UTSW |
5 |
149,516,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Wdr95
|
UTSW |
5 |
149,518,861 (GRCm39) |
splice site |
probably null |
|
|
R1750:Wdr95
|
UTSW |
5 |
149,505,351 (GRCm39) |
splice site |
probably null |
|
|
R1774:Wdr95
|
UTSW |
5 |
149,487,857 (GRCm39) |
nonsense |
probably null |
|
|
R1831:Wdr95
|
UTSW |
5 |
149,475,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Wdr95
|
UTSW |
5 |
149,522,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1907:Wdr95
|
UTSW |
5 |
149,475,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Wdr95
|
UTSW |
5 |
149,497,613 (GRCm39) |
splice site |
probably benign |
|
|
R2063:Wdr95
|
UTSW |
5 |
149,502,627 (GRCm39) |
splice site |
probably null |
|
|
R2392:Wdr95
|
UTSW |
5 |
149,504,135 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2863:Wdr95
|
UTSW |
5 |
149,505,321 (GRCm39) |
nonsense |
probably null |
|
|
R4116:Wdr95
|
UTSW |
5 |
149,521,040 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4237:Wdr95
|
UTSW |
5 |
149,486,802 (GRCm39) |
nonsense |
probably null |
|
|
R4420:Wdr95
|
UTSW |
5 |
149,456,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4639:Wdr95
|
UTSW |
5 |
149,505,279 (GRCm39) |
splice site |
probably benign |
|
|
R4824:Wdr95
|
UTSW |
5 |
149,518,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Wdr95
|
UTSW |
5 |
149,535,157 (GRCm39) |
nonsense |
probably null |
|
|
R5016:Wdr95
|
UTSW |
5 |
149,468,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5458:Wdr95
|
UTSW |
5 |
149,487,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5486:Wdr95
|
UTSW |
5 |
149,519,795 (GRCm39) |
nonsense |
probably null |
|
|
R5613:Wdr95
|
UTSW |
5 |
149,507,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Wdr95
|
UTSW |
5 |
149,487,692 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5956:Wdr95
|
UTSW |
5 |
149,517,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6309:Wdr95
|
UTSW |
5 |
149,504,268 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6867:Wdr95
|
UTSW |
5 |
149,504,388 (GRCm39) |
splice site |
probably null |
|
|
R6964:Wdr95
|
UTSW |
5 |
149,505,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Wdr95
|
UTSW |
5 |
149,535,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7208:Wdr95
|
UTSW |
5 |
149,518,836 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7309:Wdr95
|
UTSW |
5 |
149,529,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7504:Wdr95
|
UTSW |
5 |
149,505,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7660:Wdr95
|
UTSW |
5 |
149,517,945 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7997:Wdr95
|
UTSW |
5 |
149,502,622 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8084:Wdr95
|
UTSW |
5 |
149,511,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Wdr95
|
UTSW |
5 |
149,502,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8456:Wdr95
|
UTSW |
5 |
149,502,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Wdr95
|
UTSW |
5 |
149,497,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Wdr95
|
UTSW |
5 |
149,518,752 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9451:Wdr95
|
UTSW |
5 |
149,504,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9453:Wdr95
|
UTSW |
5 |
149,475,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9779:Wdr95
|
UTSW |
5 |
149,505,293 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Wdr95
|
UTSW |
5 |
149,511,632 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1176:Wdr95
|
UTSW |
5 |
149,489,901 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1177:Wdr95
|
UTSW |
5 |
149,468,241 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation