Incidental Mutation 'R1633:Wdr95'
| ID |
172910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr95
|
| Ensembl Gene |
ENSMUSG00000029658 |
| Gene Name |
WD40 repeat domain 95 |
| Synonyms |
4930434E21Rik |
| MMRRC Submission |
039670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R1633 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149452144-149535359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 149516637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 493
(I493F)
|
| 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: I351F
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106128
Gene: ENSMUSG00000029658
AA Change: I351F
| 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 damaging
Transcript: ENSMUST00000121108
AA Change: I493F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113092
Gene: ENSMUSG00000029658
AA Change: I493F
| 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 |
|
| 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: ENSMUST00000202635
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202902
AA Change: I493F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144385
Gene: ENSMUSG00000029658
AA Change: I493F
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.9%
- 20x: 83.9%
|
| Validation Efficiency |
94% (68/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
C |
T |
1: 127,681,592 (GRCm39) |
A185V |
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,219,224 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
A |
G |
12: 84,973,057 (GRCm39) |
F580S |
probably damaging |
Het |
| Arhgef19 |
T |
C |
4: 140,965,871 (GRCm39) |
|
probably benign |
Het |
| Bpifb3 |
T |
A |
2: 153,764,504 (GRCm39) |
L132Q |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,525,114 (GRCm39) |
D516E |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,586,793 (GRCm39) |
R882G |
unknown |
Het |
| Cep162 |
T |
C |
9: 87,085,736 (GRCm39) |
E1196G |
probably benign |
Het |
| Cpt1b |
T |
C |
15: 89,303,018 (GRCm39) |
T649A |
probably damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,435,166 (GRCm39) |
S231T |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,028,927 (GRCm39) |
T44A |
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,253,869 (GRCm39) |
S536P |
probably damaging |
Het |
| Eif5 |
T |
A |
12: 111,506,721 (GRCm39) |
N104K |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,671,680 (GRCm39) |
Y438C |
probably damaging |
Het |
| Ess2 |
A |
G |
16: 17,727,831 (GRCm39) |
V116A |
probably benign |
Het |
| Galnt4 |
T |
C |
10: 98,945,814 (GRCm39) |
V513A |
possibly damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,097,720 (GRCm39) |
I172T |
probably benign |
Het |
| Ggt7 |
C |
T |
2: 155,344,608 (GRCm39) |
G245D |
probably damaging |
Het |
| Gm5884 |
A |
T |
6: 128,623,028 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
G |
A |
7: 55,879,117 (GRCm39) |
G4669R |
probably null |
Het |
| Hydin |
T |
A |
8: 111,233,614 (GRCm39) |
D1817E |
probably benign |
Het |
| Igf2r |
A |
C |
17: 12,945,196 (GRCm39) |
N359K |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,898,586 (GRCm39) |
F1722L |
probably damaging |
Het |
| Itih3 |
T |
A |
14: 30,639,355 (GRCm39) |
E406V |
possibly damaging |
Het |
| Lamc2 |
A |
T |
1: 153,017,444 (GRCm39) |
C514* |
probably null |
Het |
| Mepe |
G |
T |
5: 104,485,540 (GRCm39) |
V227F |
probably benign |
Het |
| Nadk |
C |
T |
4: 155,661,642 (GRCm39) |
T56I |
probably damaging |
Het |
| Nedd4 |
G |
A |
9: 72,578,539 (GRCm39) |
V84I |
possibly damaging |
Het |
| Nipal3 |
C |
A |
4: 135,174,659 (GRCm39) |
R364L |
probably benign |
Het |
| Nkx2-9 |
T |
C |
12: 56,659,766 (GRCm39) |
R27G |
probably benign |
Het |
| Noc2l |
T |
A |
4: 156,329,750 (GRCm39) |
S600T |
probably benign |
Het |
| Or1l4b |
T |
A |
2: 37,036,983 (GRCm39) |
I253N |
probably damaging |
Het |
| Or1o3 |
T |
A |
17: 37,574,553 (GRCm39) |
M1L |
probably benign |
Het |
| Or2c1 |
A |
C |
16: 3,657,396 (GRCm39) |
K186N |
probably damaging |
Het |
| Pax6 |
A |
T |
2: 105,522,063 (GRCm39) |
E240V |
probably damaging |
Het |
| Pdilt |
T |
G |
7: 119,087,217 (GRCm39) |
T478P |
probably damaging |
Het |
| Phldb1 |
T |
A |
9: 44,629,619 (GRCm39) |
I25F |
probably damaging |
Het |
| Rad50 |
C |
T |
11: 53,583,686 (GRCm39) |
R365Q |
probably benign |
Het |
| Rdh10 |
A |
G |
1: 16,198,420 (GRCm39) |
E186G |
possibly damaging |
Het |
| Rdh12 |
A |
T |
12: 79,265,498 (GRCm39) |
E224V |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,922,964 (GRCm39) |
V413A |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,696 (GRCm39) |
I1392V |
probably benign |
Het |
| Simc1 |
G |
A |
13: 54,673,044 (GRCm39) |
G464D |
probably benign |
Het |
| Srf |
A |
T |
17: 46,862,534 (GRCm39) |
V318E |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,872,337 (GRCm39) |
|
probably null |
Het |
| Stk3 |
T |
C |
15: 34,959,206 (GRCm39) |
D322G |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,430,986 (GRCm39) |
|
probably benign |
Het |
| Sult2a1 |
A |
G |
7: 13,535,351 (GRCm39) |
I234T |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,299,388 (GRCm39) |
F956L |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,631,771 (GRCm39) |
I910N |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,471,103 (GRCm39) |
S505* |
probably null |
Het |
| Tmem63a |
T |
A |
1: 180,776,391 (GRCm39) |
V67E |
probably damaging |
Het |
| Tram2 |
A |
T |
1: 21,074,146 (GRCm39) |
V264E |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,652,854 (GRCm39) |
C106* |
probably null |
Het |
| Tspyl5 |
T |
A |
15: 33,686,791 (GRCm39) |
K385* |
probably null |
Het |
| Vezt |
T |
A |
10: 93,820,138 (GRCm39) |
Q409L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,687,042 (GRCm39) |
C808R |
possibly damaging |
Het |
| Wdfy3 |
A |
C |
5: 102,129,414 (GRCm39) |
V4G |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,465,473 (GRCm39) |
N1877I |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,804,226 (GRCm39) |
D215G |
probably benign |
Het |
| Zfp442 |
A |
T |
2: 150,250,260 (GRCm39) |
Y490* |
probably null |
Het |
| Zfp804b |
A |
G |
5: 7,229,513 (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 |
|
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 |
|
|
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'- CCTGTTGGCTTTTCAAATGCTGCTG -3'
(R):5'- TCAATCTCCCCTGAAGGTGGTCTG -3'
Sequencing Primer
(F):5'- gagagagagagagagagagagag -3'
(R):5'- CTGGCATCCTAGCTACATGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation