Incidental Mutation 'R7660:Wdr95'
| ID |
591499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr95
|
| Ensembl Gene |
ENSMUSG00000029658 |
| Gene Name |
WD40 repeat domain 95 |
| Synonyms |
4930434E21Rik |
| MMRRC Submission |
045735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R7660 (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 149517945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 501
(V501A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110502]
[ENSMUST00000201525]
[ENSMUST00000202902]
|
| AlphaFold |
D3Z7A8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110502
AA Change: V359A
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106128
Gene: ENSMUSG00000029658
AA Change: V359A
| 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 |
possibly damaging
Transcript: ENSMUST00000202902
AA Change: V501A
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144385
Gene: ENSMUSG00000029658
AA Change: V501A
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,512 (GRCm39) |
H142L |
possibly damaging |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,772,689 (GRCm39) |
I64M |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,240,678 (GRCm39) |
E847G |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,006,278 (GRCm39) |
T1276S |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,117,938 (GRCm39) |
|
probably null |
Het |
| Alpk1 |
G |
C |
3: 127,474,616 (GRCm39) |
H462Q |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atm |
C |
T |
9: 53,356,807 (GRCm39) |
V2815M |
probably benign |
Het |
| Braf |
T |
C |
6: 39,600,575 (GRCm39) |
I681V |
possibly damaging |
Het |
| Casc3 |
C |
G |
11: 98,700,699 (GRCm39) |
R4G |
unknown |
Het |
| Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,874,831 (GRCm39) |
D759G |
probably damaging |
Het |
| Csrp2 |
A |
G |
10: 110,773,624 (GRCm39) |
N103S |
probably benign |
Het |
| Faf1 |
A |
T |
4: 109,719,034 (GRCm39) |
H380L |
probably damaging |
Het |
| Farp1 |
G |
A |
14: 121,514,334 (GRCm39) |
A888T |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,035,309 (GRCm39) |
Q2987L |
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,232,578 (GRCm39) |
T665S |
probably benign |
Het |
| Gigyf1 |
T |
C |
5: 137,519,231 (GRCm39) |
S343P |
probably benign |
Het |
| Glrx3 |
A |
G |
7: 137,060,954 (GRCm39) |
Y196C |
probably damaging |
Het |
| Gm3278 |
T |
G |
14: 16,080,387 (GRCm39) |
L66R |
probably damaging |
Het |
| Ifi205 |
A |
G |
1: 173,855,814 (GRCm39) |
V72A |
probably benign |
Het |
| Ift140 |
T |
G |
17: 25,270,798 (GRCm39) |
L708R |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,458,836 (GRCm39) |
L328M |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,401,709 (GRCm39) |
I23T |
probably damaging |
Het |
| Ldha |
C |
T |
7: 46,499,681 (GRCm39) |
P100S |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,085,158 (GRCm39) |
L210H |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,829,816 (GRCm39) |
I600L |
probably benign |
Het |
| Map2 |
C |
A |
1: 66,453,536 (GRCm39) |
P809T |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,423,874 (GRCm39) |
C577* |
probably null |
Het |
| Matn2 |
A |
G |
15: 34,403,092 (GRCm39) |
K439R |
probably benign |
Het |
| Mep1a |
C |
T |
17: 43,789,868 (GRCm39) |
G494S |
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,495,406 (GRCm39) |
F488L |
probably damaging |
Het |
| Mtus1 |
G |
T |
8: 41,469,248 (GRCm39) |
T8K |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,384,716 (GRCm39) |
T523A |
possibly damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,911,241 (GRCm39) |
P1334S |
probably benign |
Het |
| Neb |
T |
G |
2: 52,139,451 (GRCm39) |
M119L |
|
Het |
| Nox4 |
T |
C |
7: 87,019,230 (GRCm39) |
Y408H |
probably damaging |
Het |
| Nxpe3 |
C |
T |
16: 55,664,690 (GRCm39) |
R510Q |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,787 (GRCm39) |
T177A |
probably benign |
Het |
| Or4f52 |
C |
T |
2: 111,061,960 (GRCm39) |
M59I |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,041 (GRCm39) |
V143A |
probably benign |
Het |
| Or6c214 |
C |
A |
10: 129,590,432 (GRCm39) |
E296* |
probably null |
Het |
| Or7g23 |
T |
C |
9: 19,086,804 (GRCm39) |
H56R |
probably benign |
Het |
| Or8k31-ps1 |
A |
T |
2: 86,356,174 (GRCm39) |
S116T |
possibly damaging |
Het |
| Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
| Pax8 |
T |
C |
2: 24,326,573 (GRCm39) |
Y263C |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,138,904 (GRCm39) |
Y178N |
probably benign |
Het |
| Pcdhga11 |
C |
T |
18: 37,890,183 (GRCm39) |
T397M |
possibly damaging |
Het |
| Pdlim5 |
G |
T |
3: 141,964,946 (GRCm39) |
H428N |
probably damaging |
Het |
| Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
| Rgs3 |
A |
G |
4: 62,619,349 (GRCm39) |
D478G |
possibly damaging |
Het |
| Scgb2b11 |
C |
T |
7: 31,909,883 (GRCm39) |
E68K |
probably damaging |
Het |
| Sema4b |
C |
A |
7: 79,869,995 (GRCm39) |
Q428K |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,995 (GRCm39) |
I32K |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,780,622 (GRCm39) |
T276A |
probably benign |
Het |
| Sgo2b |
G |
A |
8: 64,393,108 (GRCm39) |
H110Y |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,954,208 (GRCm39) |
L833S |
probably benign |
Het |
| Slc6a15 |
T |
A |
10: 103,229,241 (GRCm39) |
|
probably null |
Het |
| Srfbp1 |
G |
A |
18: 52,608,671 (GRCm39) |
V24I |
probably damaging |
Het |
| Stpg2 |
A |
T |
3: 139,407,458 (GRCm39) |
N537Y |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,087,782 (GRCm39) |
S1766T |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,532,880 (GRCm39) |
M1K |
probably null |
Het |
| Tmem245 |
A |
T |
4: 56,899,170 (GRCm39) |
I661K |
possibly damaging |
Het |
| Trim5 |
T |
C |
7: 103,928,569 (GRCm39) |
H124R |
probably damaging |
Het |
| Trim67 |
T |
A |
8: 125,547,024 (GRCm39) |
L478Q |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,646,357 (GRCm39) |
D282G |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,905,793 (GRCm39) |
Y579C |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,824,629 (GRCm39) |
D551E |
probably damaging |
Het |
| Vmn1r194 |
T |
C |
13: 22,428,767 (GRCm39) |
V128A |
not run |
Het |
| Vmn2r130 |
T |
A |
17: 23,296,006 (GRCm39) |
D725E |
probably damaging |
Het |
| Vmn2r70 |
T |
G |
7: 85,218,130 (GRCm39) |
N56T |
probably damaging |
Het |
| Zc3h8 |
T |
C |
2: 128,772,742 (GRCm39) |
T249A |
probably damaging |
Het |
| Zfp54 |
T |
C |
17: 21,654,501 (GRCm39) |
C332R |
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 |
|
R7504:Wdr95
|
UTSW |
5 |
149,505,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TTAGTGGAGGAGAACCCAGC -3'
(R):5'- GCAAAGAATTGGAACCTGGC -3'
Sequencing Primer
(F):5'- GAGGAGAACCCAGCAAGTCATC -3'
(R):5'- AATTGGAACCTGGCAGACC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation