Incidental Mutation 'R1686:Wdr95'
ID |
189337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr95
|
Ensembl Gene |
ENSMUSG00000029658 |
Gene Name |
WD40 repeat domain 95 |
Synonyms |
4930434E21Rik |
MMRRC Submission |
039719-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R1686 (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 149516566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 327
(D327V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110502]
[ENSMUST00000201525]
[ENSMUST00000202902]
|
AlphaFold |
D3Z7A8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110502
AA Change: D327V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106128 Gene: ENSMUSG00000029658 AA Change: D327V
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: D469V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113092 Gene: ENSMUSG00000029658 AA Change: D469V
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: D469V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144385 Gene: ENSMUSG00000029658 AA Change: D469V
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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
100% (85/85) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
G |
A |
10: 100,448,722 (GRCm39) |
V400I |
probably damaging |
Het |
Abcb1b |
A |
G |
5: 8,848,782 (GRCm39) |
N14S |
probably damaging |
Het |
Adamts14 |
A |
G |
10: 61,034,439 (GRCm39) |
Y1150H |
probably benign |
Het |
Adgrg3 |
A |
G |
8: 95,759,997 (GRCm39) |
N72S |
probably benign |
Het |
Akain1 |
T |
A |
17: 69,746,527 (GRCm39) |
F3I |
possibly damaging |
Het |
Akr1c21 |
T |
C |
13: 4,627,452 (GRCm39) |
L182P |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,886,659 (GRCm39) |
Y12N |
probably damaging |
Het |
Aup1 |
A |
T |
6: 83,032,226 (GRCm39) |
H131L |
probably damaging |
Het |
Bag6 |
A |
G |
17: 35,363,928 (GRCm39) |
T812A |
possibly damaging |
Het |
Bmp2k |
A |
G |
5: 97,211,392 (GRCm39) |
Y520C |
unknown |
Het |
Calm4 |
T |
G |
13: 3,888,302 (GRCm39) |
V136G |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,230,523 (GRCm39) |
|
probably null |
Het |
Cc2d2a |
A |
G |
5: 43,896,713 (GRCm39) |
T1537A |
possibly damaging |
Het |
Cntn2 |
A |
T |
1: 132,454,049 (GRCm39) |
V319D |
possibly damaging |
Het |
Cux1 |
G |
A |
5: 136,304,235 (GRCm39) |
R1314* |
probably null |
Het |
Cxcl12 |
A |
G |
6: 117,150,508 (GRCm39) |
I79V |
probably damaging |
Het |
Cyp2j6 |
T |
C |
4: 96,412,014 (GRCm39) |
D418G |
probably benign |
Het |
Ddx28 |
G |
C |
8: 106,737,190 (GRCm39) |
D289E |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam135a |
A |
C |
1: 24,068,887 (GRCm39) |
S448A |
probably benign |
Het |
Fbxo33 |
G |
T |
12: 59,251,626 (GRCm39) |
N30K |
possibly damaging |
Het |
Fgf12 |
A |
C |
16: 28,217,093 (GRCm39) |
Y21D |
probably damaging |
Het |
Galntl5 |
C |
T |
5: 25,415,432 (GRCm39) |
S288L |
probably benign |
Het |
Gart |
G |
T |
16: 91,422,237 (GRCm39) |
A760D |
probably damaging |
Het |
Gba2 |
A |
T |
4: 43,573,869 (GRCm39) |
|
probably benign |
Het |
Gm10518 |
C |
A |
1: 179,631,357 (GRCm39) |
S139* |
probably null |
Het |
Gm4781 |
A |
T |
10: 100,232,837 (GRCm39) |
|
noncoding transcript |
Het |
Gm9790 |
A |
G |
3: 85,823,156 (GRCm39) |
|
noncoding transcript |
Het |
Gmps |
G |
A |
3: 63,893,075 (GRCm39) |
G127R |
probably damaging |
Het |
Golim4 |
A |
T |
3: 75,802,443 (GRCm39) |
V283E |
probably benign |
Het |
Gprc5a |
A |
T |
6: 135,055,918 (GRCm39) |
I122F |
possibly damaging |
Het |
Gzmc |
T |
C |
14: 56,471,341 (GRCm39) |
K67E |
probably benign |
Het |
Hapln3 |
C |
A |
7: 78,771,638 (GRCm39) |
V84L |
probably benign |
Het |
Hif3a |
T |
A |
7: 16,778,789 (GRCm39) |
N377Y |
possibly damaging |
Het |
Ifi211 |
G |
A |
1: 173,726,969 (GRCm39) |
H392Y |
probably damaging |
Het |
Iqgap3 |
T |
A |
3: 88,015,663 (GRCm39) |
|
probably benign |
Het |
Itga10 |
T |
A |
3: 96,559,141 (GRCm39) |
F410Y |
probably damaging |
Het |
Jup |
T |
C |
11: 100,263,260 (GRCm39) |
Y705C |
probably damaging |
Het |
Khsrp |
C |
T |
17: 57,332,597 (GRCm39) |
A228T |
probably benign |
Het |
Lmntd2 |
C |
T |
7: 140,790,998 (GRCm39) |
G445D |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,809,290 (GRCm39) |
V320A |
possibly damaging |
Het |
Magel2 |
T |
A |
7: 62,027,988 (GRCm39) |
H297Q |
possibly damaging |
Het |
Mbd6 |
T |
C |
10: 127,123,286 (GRCm39) |
E33G |
probably damaging |
Het |
Mob3b |
A |
G |
4: 34,985,910 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Mymk |
A |
T |
2: 26,952,346 (GRCm39) |
W174R |
probably damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nipal3 |
T |
C |
4: 135,174,599 (GRCm39) |
Y384C |
possibly damaging |
Het |
Nt5c3b |
A |
G |
11: 100,330,920 (GRCm39) |
|
probably benign |
Het |
Obox6 |
T |
A |
7: 15,567,750 (GRCm39) |
L232F |
probably damaging |
Het |
Obscn |
A |
C |
11: 58,997,113 (GRCm39) |
|
probably benign |
Het |
Or7g12 |
T |
C |
9: 18,899,839 (GRCm39) |
L185P |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,748,278 (GRCm39) |
I706V |
probably benign |
Het |
Plcb2 |
A |
G |
2: 118,546,168 (GRCm39) |
|
probably benign |
Het |
Plek2 |
T |
C |
12: 78,941,184 (GRCm39) |
D216G |
probably damaging |
Het |
Plxnb2 |
T |
C |
15: 89,046,665 (GRCm39) |
Y855C |
probably damaging |
Het |
Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
Psma7 |
A |
T |
2: 179,679,215 (GRCm39) |
D184E |
probably benign |
Het |
Rai14 |
T |
A |
15: 10,592,282 (GRCm39) |
L204F |
probably damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,199,920 (GRCm39) |
V1208A |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,582,458 (GRCm39) |
R67G |
possibly damaging |
Het |
Ryr2 |
C |
T |
13: 11,618,665 (GRCm39) |
|
probably benign |
Het |
Satb1 |
T |
C |
17: 52,047,027 (GRCm39) |
S763G |
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,020,292 (GRCm39) |
H690L |
probably benign |
Het |
Sfrp5 |
A |
C |
19: 42,190,143 (GRCm39) |
V103G |
possibly damaging |
Het |
Six6 |
A |
G |
12: 72,988,451 (GRCm39) |
E208G |
probably benign |
Het |
Sspo |
A |
T |
6: 48,437,334 (GRCm39) |
H1364L |
probably benign |
Het |
Stard9 |
A |
T |
2: 120,529,973 (GRCm39) |
T2077S |
probably benign |
Het |
Tacr3 |
T |
C |
3: 134,535,254 (GRCm39) |
L74P |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,074,245 (GRCm39) |
E1880G |
probably benign |
Het |
Tgfb3 |
A |
T |
12: 86,116,517 (GRCm39) |
|
probably benign |
Het |
Thap7 |
G |
A |
16: 17,346,576 (GRCm39) |
P136S |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,667,789 (GRCm39) |
Y770* |
probably null |
Het |
Tmc2 |
T |
C |
2: 130,098,036 (GRCm39) |
V717A |
possibly damaging |
Het |
Usp43 |
T |
A |
11: 67,778,593 (GRCm39) |
S446C |
probably damaging |
Het |
Vwa3a |
C |
T |
7: 120,379,371 (GRCm39) |
S492L |
probably damaging |
Het |
Wdhd1 |
T |
A |
14: 47,493,672 (GRCm39) |
N16I |
probably damaging |
Het |
Zfp128 |
T |
G |
7: 12,624,563 (GRCm39) |
Y310* |
probably null |
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 |
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'- TACACATGAGCACACGCAGAGG -3'
(R):5'- AAAGGATTTGCCAGCTCCACGC -3'
Sequencing Primer
(F):5'- aggtaaggggagggagaaag -3'
(R):5'- GATAGATAGCTGAGGTCAATCTCCC -3'
|
Posted On |
2014-05-14 |