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: 0.078)
|
| Stock # |
R7504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149528679-149611894 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149581846 bp (GRCm38)
|
| 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: 14,943,653 (GRCm38) |
A14G |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,461,716 (GRCm38) |
M161K |
probably benign |
Het |
| Camkk2 |
G |
A |
5: 122,746,308 (GRCm38) |
T350I |
probably damaging |
Het |
| Cdc42bpg |
C |
A |
19: 6,306,784 (GRCm38) |
D23E |
possibly damaging |
Het |
| Cdkn1a |
T |
C |
17: 29,098,514 (GRCm38) |
L36P |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,088,035 (GRCm38) |
I351T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,201,017 (GRCm38) |
Y1816H |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,683,049 (GRCm38) |
N300K |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,101,617 (GRCm38) |
Y294H |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,545,038 (GRCm38) |
I198N |
probably damaging |
Het |
| Grid1 |
G |
T |
14: 35,562,513 (GRCm38) |
A738S |
probably damaging |
Het |
| Gsx2 |
G |
A |
5: 75,076,399 (GRCm38) |
|
probably null |
Het |
| Hc |
G |
A |
2: 35,061,319 (GRCm38) |
T22I |
not run |
Het |
| Hps1 |
T |
C |
19: 42,766,720 (GRCm38) |
D261G |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,918,005 (GRCm38) |
Y539C |
probably damaging |
Het |
| Insc |
G |
T |
7: 114,791,298 (GRCm38) |
|
probably null |
Het |
| Isg15 |
T |
C |
4: 156,200,045 (GRCm38) |
M9V |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,256,233 (GRCm38) |
L695P |
unknown |
Het |
| Nars1 |
A |
C |
18: 64,512,022 (GRCm38) |
F52V |
probably benign |
Het |
| Nmt1 |
T |
G |
11: 103,056,459 (GRCm38) |
F225V |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,768,732 (GRCm38) |
I130N |
probably damaging |
Het |
| Or7a36 |
A |
G |
10: 78,984,660 (GRCm38) |
Y290C |
possibly damaging |
Het |
| Or8c8 |
A |
T |
9: 38,254,243 (GRCm38) |
K272N |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,175,924 (GRCm38) |
T385A |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,421,799 (GRCm38) |
T61S |
probably benign |
Het |
| Pramel40 |
G |
T |
5: 94,317,047 (GRCm38) |
V431L |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,152,953 (GRCm38) |
E606G |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,075,759 (GRCm38) |
Y589H |
probably benign |
Het |
| Scara3 |
A |
G |
14: 65,931,331 (GRCm38) |
I279T |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,867,967 (GRCm38) |
Y477F |
possibly damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,758,171 (GRCm38) |
K415E |
probably benign |
Het |
| Stag1 |
C |
T |
9: 100,888,328 (GRCm38) |
T639I |
probably benign |
Het |
| Sv2b |
A |
T |
7: 75,136,383 (GRCm38) |
F430I |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,139,743 (GRCm38) |
C743Y |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,487,339 (GRCm38) |
V445L |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,554,632 (GRCm38) |
S652P |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 64,992,617 (GRCm38) |
D1155G |
possibly damaging |
Het |
| Traip |
T |
C |
9: 107,961,544 (GRCm38) |
I169T |
probably benign |
Het |
| Trmt9b |
A |
C |
8: 36,512,155 (GRCm38) |
N304T |
probably benign |
Het |
| Usp45 |
T |
G |
4: 21,816,892 (GRCm38) |
M374R |
possibly damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,268,332 (GRCm38) |
H263L |
probably benign |
Het |
| Zfp128 |
G |
A |
7: 12,890,478 (GRCm38) |
D258N |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,909,418 (GRCm38) |
T76I |
probably benign |
Het |
| Zfp688 |
C |
A |
7: 127,419,311 (GRCm38) |
C214F |
probably damaging |
Het |
| Zfp760 |
T |
C |
17: 21,722,674 (GRCm38) |
S277P |
probably damaging |
Het |
|
| Other mutations in Wdr95 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Wdr95
|
APN |
5 |
149,595,244 (GRCm38) |
critical splice acceptor site |
probably benign |
0.00 |
|
IGL02352:Wdr95
|
APN |
5 |
149,580,619 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02359:Wdr95
|
APN |
5 |
149,580,619 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02478:Wdr95
|
APN |
5 |
149,596,321 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03078:Wdr95
|
APN |
5 |
149,611,597 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL03201:Wdr95
|
APN |
5 |
149,581,887 (GRCm38) |
splice site |
probably null |
|
|
P0037:Wdr95
|
UTSW |
5 |
149,588,071 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0115:Wdr95
|
UTSW |
5 |
149,564,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0538:Wdr95
|
UTSW |
5 |
149,580,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0606:Wdr95
|
UTSW |
5 |
149,588,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0723:Wdr95
|
UTSW |
5 |
149,574,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1104:Wdr95
|
UTSW |
5 |
149,606,337 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1233:Wdr95
|
UTSW |
5 |
149,595,364 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1233:Wdr95
|
UTSW |
5 |
149,581,858 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1344:Wdr95
|
UTSW |
5 |
149,588,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1513:Wdr95
|
UTSW |
5 |
149,599,294 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1623:Wdr95
|
UTSW |
5 |
149,574,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1633:Wdr95
|
UTSW |
5 |
149,593,172 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1664:Wdr95
|
UTSW |
5 |
149,595,287 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1686:Wdr95
|
UTSW |
5 |
149,593,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1741:Wdr95
|
UTSW |
5 |
149,595,396 (GRCm38) |
splice site |
probably null |
|
|
R1750:Wdr95
|
UTSW |
5 |
149,581,886 (GRCm38) |
splice site |
probably null |
|
|
R1774:Wdr95
|
UTSW |
5 |
149,564,392 (GRCm38) |
nonsense |
probably null |
|
|
R1831:Wdr95
|
UTSW |
5 |
149,552,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1838:Wdr95
|
UTSW |
5 |
149,599,366 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1907:Wdr95
|
UTSW |
5 |
149,552,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2019:Wdr95
|
UTSW |
5 |
149,574,148 (GRCm38) |
splice site |
probably benign |
|
|
R2063:Wdr95
|
UTSW |
5 |
149,579,162 (GRCm38) |
splice site |
probably null |
|
|
R2392:Wdr95
|
UTSW |
5 |
149,580,670 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2863:Wdr95
|
UTSW |
5 |
149,581,856 (GRCm38) |
nonsense |
probably null |
|
|
R4116:Wdr95
|
UTSW |
5 |
149,597,575 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4237:Wdr95
|
UTSW |
5 |
149,563,337 (GRCm38) |
nonsense |
probably null |
|
|
R4420:Wdr95
|
UTSW |
5 |
149,532,666 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4639:Wdr95
|
UTSW |
5 |
149,581,814 (GRCm38) |
splice site |
probably benign |
|
|
R4824:Wdr95
|
UTSW |
5 |
149,595,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4911:Wdr95
|
UTSW |
5 |
149,611,692 (GRCm38) |
nonsense |
probably null |
|
|
R5016:Wdr95
|
UTSW |
5 |
149,544,801 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5458:Wdr95
|
UTSW |
5 |
149,564,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5486:Wdr95
|
UTSW |
5 |
149,596,330 (GRCm38) |
nonsense |
probably null |
|
|
R5613:Wdr95
|
UTSW |
5 |
149,584,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5906:Wdr95
|
UTSW |
5 |
149,564,227 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5956:Wdr95
|
UTSW |
5 |
149,594,482 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6309:Wdr95
|
UTSW |
5 |
149,580,803 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6867:Wdr95
|
UTSW |
5 |
149,580,923 (GRCm38) |
splice site |
probably null |
|
|
R6964:Wdr95
|
UTSW |
5 |
149,581,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7008:Wdr95
|
UTSW |
5 |
149,611,540 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7208:Wdr95
|
UTSW |
5 |
149,595,371 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7309:Wdr95
|
UTSW |
5 |
149,606,293 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7660:Wdr95
|
UTSW |
5 |
149,594,480 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7997:Wdr95
|
UTSW |
5 |
149,579,157 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8084:Wdr95
|
UTSW |
5 |
149,588,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8356:Wdr95
|
UTSW |
5 |
149,579,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8456:Wdr95
|
UTSW |
5 |
149,579,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8523:Wdr95
|
UTSW |
5 |
149,573,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8682:Wdr95
|
UTSW |
5 |
149,595,287 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9451:Wdr95
|
UTSW |
5 |
149,580,700 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9453:Wdr95
|
UTSW |
5 |
149,552,452 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9779:Wdr95
|
UTSW |
5 |
149,581,828 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0024:Wdr95
|
UTSW |
5 |
149,588,167 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
Z1176:Wdr95
|
UTSW |
5 |
149,566,436 (GRCm38) |
missense |
probably benign |
0.34 |
|
Z1177:Wdr95
|
UTSW |
5 |
149,544,776 (GRCm38) |
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 |
Incidental Mutation