Incidental Mutation 'R5016:Wdr95'
| ID |
385571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr95
|
| Ensembl Gene |
ENSMUSG00000029658 |
| Gene Name |
WD40 repeat domain 95 |
| Synonyms |
4930434E21Rik |
| MMRRC Submission |
042607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149452144-149535359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149468266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 41
(M41T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110502]
[ENSMUST00000201525]
[ENSMUST00000202902]
|
| AlphaFold |
D3Z7A8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110502
|
| SMART Domains |
Protein: ENSMUSP00000106128
Gene: ENSMUSG00000029658
| 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 |
noncoding transcript
Transcript: ENSMUST00000130653
AA Change: W29R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201183
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000202257
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202805
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202902
AA Change: M41T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000144385
Gene: ENSMUSG00000029658
AA Change: M41T
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 91.0%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,491,631 (GRCm39) |
P768S |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,274,889 (GRCm39) |
L623P |
possibly damaging |
Het |
| Anapc1 |
A |
T |
2: 128,449,095 (GRCm39) |
|
probably benign |
Het |
| Ankzf1 |
C |
A |
1: 75,172,622 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,630 (GRCm39) |
D503G |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,505,885 (GRCm39) |
|
probably null |
Het |
| Bach1 |
T |
A |
16: 87,516,206 (GRCm39) |
V249D |
possibly damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,805,751 (GRCm39) |
S335P |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,733,254 (GRCm39) |
C1374* |
probably null |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Cygb |
A |
G |
11: 116,540,840 (GRCm39) |
F49L |
probably benign |
Het |
| Dnah17 |
G |
C |
11: 117,971,592 (GRCm39) |
T2147S |
probably damaging |
Het |
| Drd3 |
C |
A |
16: 43,582,609 (GRCm39) |
A34E |
possibly damaging |
Het |
| Ephb6 |
G |
A |
6: 41,595,041 (GRCm39) |
R685Q |
probably benign |
Het |
| Ezh1 |
G |
A |
11: 101,090,063 (GRCm39) |
|
probably benign |
Het |
| Gpr19 |
T |
A |
6: 134,846,880 (GRCm39) |
K231* |
probably null |
Het |
| Gpr61 |
A |
G |
3: 108,057,983 (GRCm39) |
V226A |
possibly damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hnrnpul2 |
A |
G |
19: 8,800,189 (GRCm39) |
K185R |
possibly damaging |
Het |
| Igsf9 |
A |
C |
1: 172,318,279 (GRCm39) |
T140P |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,638,857 (GRCm39) |
D87G |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,744,250 (GRCm39) |
E843G |
probably damaging |
Het |
| Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
A |
G |
6: 38,562,036 (GRCm39) |
I20V |
possibly damaging |
Het |
| Mcm6 |
G |
A |
1: 128,271,164 (GRCm39) |
T485M |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,219,767 (GRCm39) |
D85G |
probably null |
Het |
| Nudt18 |
T |
C |
14: 70,816,903 (GRCm39) |
F169S |
probably benign |
Het |
| Nxpe4 |
A |
G |
9: 48,304,185 (GRCm39) |
N91D |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,596 (GRCm39) |
S96P |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,637,662 (GRCm39) |
V244A |
probably benign |
Het |
| Or8k39 |
T |
G |
2: 86,563,090 (GRCm39) |
I289L |
probably benign |
Het |
| Pdss2 |
G |
T |
10: 43,098,001 (GRCm39) |
A82S |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,070 (GRCm39) |
D998G |
probably damaging |
Het |
| Rasd2 |
C |
A |
8: 75,948,603 (GRCm39) |
N176K |
probably damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,974,060 (GRCm39) |
F284L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 113,028,730 (GRCm39) |
|
probably null |
Het |
| Slc12a6 |
C |
T |
2: 112,186,972 (GRCm39) |
|
probably benign |
Het |
| Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,846,658 (GRCm39) |
C562S |
probably damaging |
Het |
| Specc1 |
A |
G |
11: 62,009,783 (GRCm39) |
E433G |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,429,214 (GRCm39) |
Q451* |
probably null |
Het |
| St6galnac1 |
A |
T |
11: 116,656,706 (GRCm39) |
S478T |
probably damaging |
Het |
| Steap4 |
C |
T |
5: 8,026,699 (GRCm39) |
R221* |
probably null |
Het |
| Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,375 (GRCm39) |
F14Y |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,686,548 (GRCm39) |
V643A |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,330,322 (GRCm39) |
Y535* |
probably null |
Het |
| Wdr3 |
A |
T |
3: 100,048,936 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACATTTGCCTTTGAGTTGTAC -3'
(R):5'- TCAGCTAAGTTTGCAAAGTCGC -3'
Sequencing Primer
(F):5'- GCCTTTGAGTTGTACAAACATCC -3'
(R):5'- AGTTTGCAAAGTCGCCTCAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation