Incidental Mutation 'R5458:Wdr95'
| ID |
432870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr95
|
| Ensembl Gene |
ENSMUSG00000029658 |
| Gene Name |
WD40 repeat domain 95 |
| Synonyms |
4930434E21Rik |
| MMRRC Submission |
043021-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5458 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149452144-149535359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 149487879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 171
(P171L)
|
| 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: P29L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106128
Gene: ENSMUSG00000029658
AA Change: P29L
| 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 |
silent
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 damaging
Transcript: ENSMUST00000202902
AA Change: P171L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144385
Gene: ENSMUSG00000029658
AA Change: P171L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
A |
G |
6: 125,027,013 (GRCm39) |
|
probably benign |
Het |
| Acsl5 |
A |
G |
19: 55,282,662 (GRCm39) |
D589G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,236,049 (GRCm39) |
L208Q |
probably damaging |
Het |
| Ankfn1 |
C |
T |
11: 89,325,636 (GRCm39) |
R512K |
probably benign |
Het |
| Ankhd1 |
T |
C |
18: 36,781,538 (GRCm39) |
S2197P |
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,291,236 (GRCm39) |
N11D |
probably damaging |
Het |
| Aspg |
T |
C |
12: 112,086,436 (GRCm39) |
V230A |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,291,924 (GRCm39) |
Y709* |
probably null |
Het |
| Atp8b2 |
T |
C |
3: 89,853,329 (GRCm39) |
N748D |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,187,346 (GRCm39) |
V684A |
probably damaging |
Het |
| Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
| Bcr |
T |
C |
10: 74,990,792 (GRCm39) |
V766A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,408,111 (GRCm39) |
N1404S |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,508 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,958,811 (GRCm39) |
D621G |
probably damaging |
Het |
| Chek1 |
A |
G |
9: 36,625,725 (GRCm39) |
S307P |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,103,155 (GRCm39) |
M1345T |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,063,168 (GRCm39) |
T2697S |
probably damaging |
Het |
| Ephb4 |
T |
C |
5: 137,368,114 (GRCm39) |
V753A |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,466,090 (GRCm39) |
Y1427H |
probably damaging |
Het |
| Fggy |
A |
G |
4: 95,814,980 (GRCm39) |
Q445R |
probably benign |
Het |
| Fv1 |
A |
G |
4: 147,954,726 (GRCm39) |
S431G |
probably benign |
Het |
| Gm5965 |
A |
T |
16: 88,575,395 (GRCm39) |
R189S |
probably benign |
Het |
| Gnas |
A |
G |
2: 174,140,124 (GRCm39) |
I98V |
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,242,910 (GRCm39) |
N1086D |
possibly damaging |
Het |
| Lclat1 |
T |
C |
17: 73,546,914 (GRCm39) |
L277P |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,250,361 (GRCm39) |
I76T |
probably damaging |
Het |
| Nkpd1 |
C |
A |
7: 19,258,201 (GRCm39) |
A510E |
probably damaging |
Het |
| Nlgn2 |
G |
T |
11: 69,718,726 (GRCm39) |
Q285K |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pax5 |
T |
C |
4: 44,679,526 (GRCm39) |
D172G |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,340,611 (GRCm39) |
V1115D |
probably damaging |
Het |
| Pdzd7 |
T |
C |
19: 45,016,230 (GRCm39) |
S964G |
probably benign |
Het |
| Phip |
G |
T |
9: 82,808,553 (GRCm39) |
P474Q |
probably benign |
Het |
| Pop5 |
C |
T |
5: 115,378,496 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
A |
T |
6: 146,913,933 (GRCm39) |
|
probably benign |
Het |
| Rdh11 |
C |
T |
12: 79,235,279 (GRCm39) |
A106T |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,339,975 (GRCm39) |
T642A |
probably damaging |
Het |
| Scmh1 |
C |
T |
4: 120,362,478 (GRCm39) |
|
probably benign |
Het |
| Skint2 |
A |
G |
4: 112,481,377 (GRCm39) |
H80R |
possibly damaging |
Het |
| Spata16 |
A |
T |
3: 26,831,686 (GRCm39) |
N265I |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,818,446 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
T |
C |
6: 42,663,476 (GRCm39) |
T135A |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,796,389 (GRCm39) |
V381A |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,237,496 (GRCm39) |
I184K |
possibly damaging |
Het |
| Unc13a |
C |
T |
8: 72,116,889 (GRCm39) |
V62M |
probably damaging |
Het |
| Vrk2 |
A |
G |
11: 26,448,919 (GRCm39) |
V225A |
probably damaging |
Het |
| Wsb1 |
T |
C |
11: 79,139,262 (GRCm39) |
T75A |
probably 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 |
|
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'- ACTGTGGGAGCAACAGATATC -3'
(R):5'- CCCTACAGTGAACTTTTAGAGGC -3'
Sequencing Primer
(F):5'- AATGTTGGGAAGAATGTCAAGATG -3'
(R):5'- GCTAAAAATAGAAATGTCCCAGGCTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation