Incidental Mutation 'R8084:Wdr95'
| ID |
629507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr95
|
| Ensembl Gene |
ENSMUSG00000029658 |
| Gene Name |
WD40 repeat domain 95 |
| Synonyms |
4930434E21Rik |
| MMRRC Submission |
067517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R8084 (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 149511598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 433
(S433P)
|
| 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: S291P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106128
Gene: ENSMUSG00000029658
AA Change: S291P
| 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: S433P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144385
Gene: ENSMUSG00000029658
AA Change: S433P
| 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: 99.8%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.2%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
A |
2: 25,323,979 (GRCm39) |
Y190N |
probably benign |
Het |
| Acsl3 |
G |
A |
1: 78,669,844 (GRCm39) |
D238N |
probably damaging |
Het |
| Acss1 |
T |
A |
2: 150,484,701 (GRCm39) |
I181F |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,229,287 (GRCm39) |
I610V |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,894,834 (GRCm39) |
F256I |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,321,322 (GRCm39) |
S273P |
probably benign |
Het |
| Baz2b |
T |
G |
2: 59,792,580 (GRCm39) |
E516A |
probably benign |
Het |
| Bbs2 |
G |
T |
8: 94,814,056 (GRCm39) |
D187E |
probably damaging |
Het |
| Cacna1b |
T |
A |
2: 24,575,808 (GRCm39) |
M747L |
probably benign |
Het |
| Cacna2d4 |
C |
A |
6: 119,277,313 (GRCm39) |
D675E |
probably damaging |
Het |
| Calcr |
G |
A |
6: 3,687,615 (GRCm39) |
T461M |
probably benign |
Het |
| Catip |
A |
G |
1: 74,403,515 (GRCm39) |
K126E |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,328 (GRCm39) |
I273T |
probably benign |
Het |
| Clasp2 |
G |
A |
9: 113,676,823 (GRCm39) |
V185I |
probably benign |
Het |
| Cracr2a |
A |
G |
6: 127,616,135 (GRCm39) |
N370S |
probably benign |
Het |
| Crygc |
A |
T |
1: 65,110,981 (GRCm39) |
V102D |
probably benign |
Het |
| Ddx23 |
A |
G |
15: 98,556,145 (GRCm39) |
S58P |
unknown |
Het |
| Dlgap5 |
C |
T |
14: 47,645,298 (GRCm39) |
G281D |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,388,099 (GRCm39) |
Y3186F |
probably damaging |
Het |
| Dpp6 |
A |
C |
5: 27,836,397 (GRCm39) |
I296L |
probably benign |
Het |
| Elfn2 |
C |
T |
15: 78,556,660 (GRCm39) |
R629H |
probably damaging |
Het |
| Eml2 |
G |
T |
7: 18,915,149 (GRCm39) |
|
probably null |
Het |
| Fitm1 |
T |
A |
14: 55,813,906 (GRCm39) |
V134E |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,907,243 (GRCm38) |
N1272S |
probably benign |
Het |
| Fuca1 |
G |
A |
4: 135,662,114 (GRCm39) |
W347* |
probably null |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,486 (GRCm39) |
K1020R |
probably benign |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,327 (GRCm39) |
W149R |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,383,217 (GRCm39) |
S3629R |
probably benign |
Het |
| Itih4 |
A |
T |
14: 30,621,400 (GRCm39) |
N821I |
possibly damaging |
Het |
| Kmt2d |
A |
T |
15: 98,739,945 (GRCm39) |
L4731Q |
unknown |
Het |
| Loxhd1 |
A |
T |
18: 77,427,845 (GRCm39) |
I472F |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,339,713 (GRCm39) |
C1066F |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,114,637 (GRCm39) |
F114I |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,587,636 (GRCm39) |
E434G |
probably benign |
Het |
| N6amt1 |
T |
C |
16: 87,151,228 (GRCm39) |
F30L |
probably damaging |
Het |
| Naca |
G |
A |
10: 127,877,400 (GRCm39) |
V811I |
unknown |
Het |
| Nobox |
A |
C |
6: 43,282,101 (GRCm39) |
I324S |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,043,365 (GRCm39) |
S442P |
probably benign |
Het |
| Or6c2 |
A |
T |
10: 129,362,809 (GRCm39) |
T238S |
probably damaging |
Het |
| Osbpl1a |
A |
T |
18: 13,038,099 (GRCm39) |
L284Q |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,867,625 (GRCm39) |
Q336L |
probably benign |
Het |
| Pcdhb20 |
A |
C |
18: 37,639,226 (GRCm39) |
Y584S |
possibly damaging |
Het |
| Pgpep1l |
A |
T |
7: 67,887,519 (GRCm39) |
F27Y |
probably benign |
Het |
| Pik3cg |
T |
G |
12: 32,245,687 (GRCm39) |
I854L |
probably benign |
Het |
| Pot1a |
C |
T |
6: 25,771,535 (GRCm39) |
V229M |
possibly damaging |
Het |
| Prh1 |
C |
T |
6: 132,548,822 (GRCm39) |
P110S |
unknown |
Het |
| Prkag3 |
C |
T |
1: 74,786,366 (GRCm39) |
C193Y |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,360,539 (GRCm39) |
F69L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,444,294 (GRCm39) |
T1437A |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,427,317 (GRCm39) |
Y633H |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,590,701 (GRCm39) |
T475I |
possibly damaging |
Het |
| Retreg1 |
C |
A |
15: 25,969,885 (GRCm39) |
A130E |
probably benign |
Het |
| Rps6kb1 |
G |
T |
11: 86,426,262 (GRCm39) |
H56N |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,449,710 (GRCm39) |
H385R |
probably damaging |
Het |
| Sbpl |
T |
G |
17: 24,172,244 (GRCm39) |
N225T |
unknown |
Het |
| Scml4 |
T |
C |
10: 42,806,602 (GRCm39) |
|
probably null |
Het |
| Scrib |
G |
A |
15: 75,937,940 (GRCm39) |
T302M |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,717,915 (GRCm39) |
T1483I |
possibly damaging |
Het |
| Sh3bgrl3 |
A |
G |
4: 133,855,390 (GRCm39) |
S19P |
probably damaging |
Het |
| Slc10a6 |
C |
T |
5: 103,760,327 (GRCm39) |
V223I |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,532,589 (GRCm39) |
T950A |
probably benign |
Het |
| Spats2 |
A |
T |
15: 99,064,961 (GRCm39) |
D9V |
possibly damaging |
Het |
| Sphk1 |
A |
T |
11: 116,425,904 (GRCm39) |
|
probably null |
Het |
| Tex10 |
A |
T |
4: 48,431,066 (GRCm39) |
S897R |
probably benign |
Het |
| Tmco3 |
T |
C |
8: 13,353,873 (GRCm39) |
V395A |
probably damaging |
Het |
| Ttc7b |
A |
G |
12: 100,350,432 (GRCm39) |
L478P |
probably damaging |
Het |
| Ubac2 |
T |
C |
14: 122,220,717 (GRCm39) |
M184T |
probably benign |
Het |
| Zfp202 |
T |
A |
9: 40,122,538 (GRCm39) |
H433Q |
probably benign |
Het |
| Zfp526 |
G |
T |
7: 24,924,737 (GRCm39) |
R332L |
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 |
|
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 |
|
|
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'- TGAAAGTTCTCAGACTTCCACG -3'
(R):5'- TGACACATGGCATGGACAGG -3'
Sequencing Primer
(F):5'- AGACTTCCACGCCGTCC -3'
(R):5'- CCAGCAAGTCATGGTCCAGAATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation