Incidental Mutation 'R5906:Wdr95'
ID |
460625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr95
|
Ensembl Gene |
ENSMUSG00000029658 |
Gene Name |
WD40 repeat domain 95 |
Synonyms |
4930434E21Rik |
MMRRC Submission |
044103-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R5906 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
149452144-149535359 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 149487692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 109
(I109V)
|
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: 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 |
possibly damaging
Transcript: ENSMUST00000202902
AA Change: I109V
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144385 Gene: ENSMUSG00000029658 AA Change: I109V
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: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.4%
|
Validation Efficiency |
95% (81/85) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
C |
A |
11: 58,182,260 (GRCm39) |
|
probably null |
Het |
9130023H24Rik |
G |
A |
7: 127,835,664 (GRCm39) |
P310S |
probably benign |
Het |
Abcc10 |
G |
T |
17: 46,627,485 (GRCm39) |
H652Q |
probably benign |
Het |
Actl6b |
A |
G |
5: 137,565,591 (GRCm39) |
I396V |
possibly damaging |
Het |
Acvr1b |
T |
C |
15: 101,091,772 (GRCm39) |
|
probably benign |
Het |
Adamts18 |
A |
T |
8: 114,436,251 (GRCm39) |
H989Q |
probably benign |
Het |
Adamtsl4 |
T |
C |
3: 95,588,094 (GRCm39) |
Y631C |
probably damaging |
Het |
Angptl3 |
A |
G |
4: 98,925,804 (GRCm39) |
T377A |
probably benign |
Het |
Ankmy2 |
G |
A |
12: 36,226,632 (GRCm39) |
V109M |
probably damaging |
Het |
Anpep |
G |
A |
7: 79,483,423 (GRCm39) |
A689V |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,859,938 (GRCm39) |
M350K |
probably damaging |
Het |
Cacna1d |
C |
T |
14: 29,818,917 (GRCm39) |
V1213I |
probably damaging |
Het |
Capn1 |
A |
G |
19: 6,061,451 (GRCm39) |
F156L |
possibly damaging |
Het |
Catsperb |
C |
A |
12: 101,476,721 (GRCm39) |
F408L |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,506,350 (GRCm39) |
L697Q |
possibly damaging |
Het |
Cdc37l1 |
T |
A |
19: 28,989,386 (GRCm39) |
V281E |
probably benign |
Het |
Chia1 |
A |
T |
3: 106,039,304 (GRCm39) |
T465S |
probably benign |
Het |
Cidec |
A |
T |
6: 113,405,282 (GRCm39) |
|
probably null |
Het |
Clcnkb |
T |
C |
4: 141,139,610 (GRCm39) |
T131A |
probably benign |
Het |
Clec5a |
T |
A |
6: 40,558,793 (GRCm39) |
M98L |
probably benign |
Het |
Cnga1 |
A |
T |
5: 72,768,201 (GRCm39) |
F162I |
probably benign |
Het |
Cyp27b1 |
A |
T |
10: 126,884,267 (GRCm39) |
I40F |
probably damaging |
Het |
Edrf1 |
A |
G |
7: 133,265,144 (GRCm39) |
S1027G |
probably benign |
Het |
Entpd1 |
C |
A |
19: 40,727,283 (GRCm39) |
A448E |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,205,286 (GRCm39) |
|
probably null |
Het |
Etfdh |
T |
C |
3: 79,511,422 (GRCm39) |
I520V |
probably damaging |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Gabra4 |
G |
A |
5: 71,781,253 (GRCm39) |
P386L |
probably benign |
Het |
Gckr |
G |
T |
5: 31,463,922 (GRCm39) |
V281L |
probably damaging |
Het |
Gfy |
T |
C |
7: 44,827,167 (GRCm39) |
T310A |
probably benign |
Het |
Gjc2 |
C |
A |
11: 59,067,667 (GRCm39) |
V272L |
probably benign |
Het |
Gm13441 |
G |
C |
2: 31,777,511 (GRCm39) |
|
silent |
Het |
H2-DMb2 |
T |
A |
17: 34,367,582 (GRCm39) |
M1K |
probably null |
Het |
Hipk3 |
T |
C |
2: 104,302,153 (GRCm39) |
Y13C |
probably damaging |
Het |
Kcnt1 |
A |
T |
2: 25,784,536 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,788,413 (GRCm39) |
F336S |
probably damaging |
Het |
Klhdc7b |
A |
G |
15: 89,271,359 (GRCm39) |
D747G |
probably benign |
Het |
Krt78 |
T |
A |
15: 101,857,030 (GRCm39) |
E359V |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,872,252 (GRCm39) |
D2195G |
probably benign |
Het |
Matk |
C |
T |
10: 81,096,753 (GRCm39) |
L188F |
probably damaging |
Het |
Mcoln2 |
T |
C |
3: 145,889,496 (GRCm39) |
I399T |
probably damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Nap1l1 |
A |
T |
10: 111,326,891 (GRCm39) |
K151* |
probably null |
Het |
Ncbp3 |
T |
A |
11: 72,964,327 (GRCm39) |
S426T |
probably benign |
Het |
Nisch |
T |
A |
14: 30,893,985 (GRCm39) |
|
probably null |
Het |
Or4k15b |
T |
C |
14: 50,272,306 (GRCm39) |
T185A |
probably benign |
Het |
Or5b113 |
T |
C |
19: 13,342,369 (GRCm39) |
C126R |
probably damaging |
Het |
Or8a1b |
A |
G |
9: 37,623,101 (GRCm39) |
I158T |
probably benign |
Het |
Or8b8 |
A |
G |
9: 37,809,174 (GRCm39) |
H158R |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,720,854 (GRCm39) |
D17G |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,791,894 (GRCm39) |
V1194M |
probably benign |
Het |
Pkd1l2 |
A |
T |
8: 117,756,387 (GRCm39) |
I1615N |
probably damaging |
Het |
Pkd2 |
A |
T |
5: 104,625,045 (GRCm39) |
|
probably null |
Het |
Pkp4 |
T |
A |
2: 59,135,420 (GRCm39) |
N97K |
possibly damaging |
Het |
Prrx2 |
C |
T |
2: 30,769,522 (GRCm39) |
R78C |
probably damaging |
Het |
Pycr1 |
T |
A |
11: 120,532,988 (GRCm39) |
I91F |
probably damaging |
Het |
Rap1a |
T |
C |
3: 105,645,081 (GRCm39) |
N87S |
possibly damaging |
Het |
Sbk2 |
T |
G |
7: 4,960,627 (GRCm39) |
Y181S |
probably damaging |
Het |
Scart1 |
T |
A |
7: 139,808,712 (GRCm39) |
D874E |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,328,843 (GRCm39) |
H1057Q |
possibly damaging |
Het |
Sfswap |
G |
A |
5: 129,619,107 (GRCm39) |
E486K |
probably benign |
Het |
Shank3 |
T |
C |
15: 89,433,119 (GRCm39) |
V1213A |
probably damaging |
Het |
Slfn5 |
T |
A |
11: 82,848,102 (GRCm39) |
I329K |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,594,813 (GRCm39) |
N1186Y |
probably damaging |
Het |
Ssbp3 |
A |
G |
4: 106,867,018 (GRCm39) |
|
probably benign |
Het |
Steap3 |
T |
A |
1: 120,171,731 (GRCm39) |
I125F |
probably damaging |
Het |
Synpr |
C |
A |
14: 13,608,788 (GRCm38) |
|
probably benign |
Het |
Tom1 |
T |
C |
8: 75,776,886 (GRCm39) |
L69P |
probably damaging |
Het |
Traf3ip3 |
T |
A |
1: 192,880,314 (GRCm39) |
D5V |
possibly damaging |
Het |
Vmn1r29 |
G |
A |
6: 58,284,736 (GRCm39) |
S152N |
probably benign |
Het |
Vmn1r68 |
T |
C |
7: 10,261,550 (GRCm39) |
I183V |
probably benign |
Het |
Wdr17 |
C |
G |
8: 55,092,503 (GRCm39) |
V1094L |
probably benign |
Het |
Zfp39 |
T |
C |
11: 58,793,717 (GRCm39) |
D7G |
probably benign |
Het |
Zfp512 |
A |
T |
5: 31,637,408 (GRCm39) |
Q443L |
probably damaging |
Het |
Zfp974 |
T |
A |
7: 27,610,230 (GRCm39) |
K498N |
possibly 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 |
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'- CGGGCTGTCTGGAAGTTAAC -3'
(R):5'- ACCCAGGCAGGTAAGGATTC -3'
Sequencing Primer
(F):5'- TGTCTGGAAGTTAACCCCAGG -3'
(R):5'- AGGATTCCAGACCCTGATGATTCG -3'
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Posted On |
2017-02-28 |