Incidental Mutation 'R7504:Wdr95'
ID |
581666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr95
|
Ensembl Gene |
ENSMUSG00000029658 |
Gene Name |
WD40 repeat domain 95 |
Synonyms |
4930434E21Rik |
MMRRC Submission |
045577-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R7504 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
149452144-149535359 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 149505311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 364
(V364A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144385
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110502]
[ENSMUST00000201525]
[ENSMUST00000202902]
|
AlphaFold |
D3Z7A8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110502
AA Change: V222A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106128 Gene: ENSMUSG00000029658 AA Change: V222A
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 benign
Transcript: ENSMUST00000201525
|
SMART Domains |
Protein: ENSMUSP00000144234 Gene: ENSMUSG00000029658
Domain | Start | End | E-Value | Type |
WD40
|
104 |
143 |
2e-6 |
SMART |
WD40
|
146 |
187 |
1.1e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202902
AA Change: V364A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000144385 Gene: ENSMUSG00000029658 AA Change: V364A
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
C |
G |
17: 15,163,915 (GRCm39) |
A14G |
probably damaging |
Het |
Btn1a1 |
A |
T |
13: 23,645,886 (GRCm39) |
M161K |
probably benign |
Het |
Camkk2 |
G |
A |
5: 122,884,371 (GRCm39) |
T350I |
probably damaging |
Het |
Cdc42bpg |
C |
A |
19: 6,356,814 (GRCm39) |
D23E |
possibly damaging |
Het |
Cdkn1a |
T |
C |
17: 29,317,488 (GRCm39) |
L36P |
probably damaging |
Het |
Dek |
A |
G |
13: 47,241,511 (GRCm39) |
I351T |
probably damaging |
Het |
Dst |
T |
C |
1: 34,240,098 (GRCm39) |
Y1816H |
probably damaging |
Het |
Efl1 |
T |
A |
7: 82,332,257 (GRCm39) |
N300K |
probably damaging |
Het |
Ephx2 |
A |
G |
14: 66,339,066 (GRCm39) |
Y294H |
probably damaging |
Het |
Fancd2 |
T |
A |
6: 113,521,999 (GRCm39) |
I198N |
probably damaging |
Het |
Grid1 |
G |
T |
14: 35,284,470 (GRCm39) |
A738S |
probably damaging |
Het |
Gsx2 |
G |
A |
5: 75,237,060 (GRCm39) |
|
probably null |
Het |
Hc |
G |
A |
2: 34,951,331 (GRCm39) |
T22I |
not run |
Het |
Hps1 |
T |
C |
19: 42,755,159 (GRCm39) |
D261G |
probably benign |
Het |
Ift80 |
T |
C |
3: 68,825,338 (GRCm39) |
Y539C |
probably damaging |
Het |
Insc |
G |
T |
7: 114,390,533 (GRCm39) |
|
probably null |
Het |
Isg15 |
T |
C |
4: 156,284,502 (GRCm39) |
M9V |
probably damaging |
Het |
Kalrn |
A |
G |
16: 34,076,603 (GRCm39) |
L695P |
unknown |
Het |
Nars1 |
A |
C |
18: 64,645,093 (GRCm39) |
F52V |
probably benign |
Het |
Nmt1 |
T |
G |
11: 102,947,285 (GRCm39) |
F225V |
probably damaging |
Het |
Or10q12 |
T |
A |
19: 13,746,096 (GRCm39) |
I130N |
probably damaging |
Het |
Or7a36 |
A |
G |
10: 78,820,494 (GRCm39) |
Y290C |
possibly damaging |
Het |
Or8c8 |
A |
T |
9: 38,165,539 (GRCm39) |
K272N |
possibly damaging |
Het |
Pbx3 |
T |
C |
2: 34,065,936 (GRCm39) |
T385A |
probably damaging |
Het |
Pcdhb11 |
A |
T |
18: 37,554,852 (GRCm39) |
T61S |
probably benign |
Het |
Pramel40 |
G |
T |
5: 94,464,906 (GRCm39) |
V431L |
probably benign |
Het |
Rab11fip1 |
T |
C |
8: 27,642,981 (GRCm39) |
E606G |
possibly damaging |
Het |
Rnf216 |
A |
G |
5: 143,061,514 (GRCm39) |
Y589H |
probably benign |
Het |
Scara3 |
A |
G |
14: 66,168,780 (GRCm39) |
I279T |
possibly damaging |
Het |
Sdk2 |
T |
A |
11: 113,758,793 (GRCm39) |
Y477F |
possibly damaging |
Het |
Secisbp2l |
T |
C |
2: 125,600,091 (GRCm39) |
K415E |
probably benign |
Het |
Stag1 |
C |
T |
9: 100,770,381 (GRCm39) |
T639I |
probably benign |
Het |
Sv2b |
A |
T |
7: 74,786,131 (GRCm39) |
F430I |
probably benign |
Het |
Tenm2 |
C |
T |
11: 36,030,570 (GRCm39) |
C743Y |
probably damaging |
Het |
Tet2 |
C |
A |
3: 133,193,100 (GRCm39) |
V445L |
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,631,696 (GRCm39) |
S652P |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,039,391 (GRCm39) |
D1155G |
possibly damaging |
Het |
Traip |
T |
C |
9: 107,838,743 (GRCm39) |
I169T |
probably benign |
Het |
Trmt9b |
A |
C |
8: 36,979,309 (GRCm39) |
N304T |
probably benign |
Het |
Usp45 |
T |
G |
4: 21,816,892 (GRCm39) |
M374R |
possibly damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,104,166 (GRCm39) |
H263L |
probably benign |
Het |
Zfp128 |
G |
A |
7: 12,624,405 (GRCm39) |
D258N |
probably damaging |
Het |
Zfp335 |
G |
A |
2: 164,751,338 (GRCm39) |
T76I |
probably benign |
Het |
Zfp688 |
C |
A |
7: 127,018,483 (GRCm39) |
C214F |
probably damaging |
Het |
Zfp760 |
T |
C |
17: 21,941,655 (GRCm39) |
S277P |
probably damaging |
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 |
IGL02352:Wdr95
|
APN |
5 |
149,504,084 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCCACAAAGGAATGGTGC -3'
(R):5'- AAAGCTGTGTCCAGTCCTTG -3'
Sequencing Primer
(F):5'- GCTTTAATGGCCCAGGCTACTAG -3'
(R):5'- CATGATATCTCCTGCCTTGCCAG -3'
|
Posted On |
2019-10-17 |