Incidental Mutation 'R9451:Wdr95'
| ID |
714248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr95
|
| Ensembl Gene |
ENSMUSG00000029658 |
| Gene Name |
WD40 repeat domain 95 |
| Synonyms |
4930434E21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R9451 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149452144-149535359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 149504165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 324
(T324A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110502]
[ENSMUST00000201525]
[ENSMUST00000202902]
|
| AlphaFold |
D3Z7A8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110502
AA Change: T182A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106128
Gene: ENSMUSG00000029658
AA Change: T182A
| 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 benign
Transcript: ENSMUST00000201525
AA Change: T166A
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000144234
Gene: ENSMUSG00000029658
AA Change: T166A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
104 |
143 |
2e-6 |
SMART |
|
WD40
|
146 |
187 |
1.1e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202902
AA Change: T324A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000144385
Gene: ENSMUSG00000029658
AA Change: T324A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (73/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh8a1 |
T |
A |
10: 21,265,032 (GRCm39) |
S220T |
probably benign |
Het |
| Ankrd66 |
A |
G |
17: 43,845,811 (GRCm39) |
V192A |
probably benign |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,774 (GRCm39) |
Y594C |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,103,494 (GRCm39) |
Y1009H |
probably benign |
Het |
| Bptf |
A |
C |
11: 106,935,411 (GRCm39) |
M142R |
probably damaging |
Het |
| Brwd1 |
C |
T |
16: 95,845,703 (GRCm39) |
R740Q |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,531,169 (GRCm39) |
M339T |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,897,772 (GRCm39) |
|
probably null |
Het |
| Cep295nl |
T |
A |
11: 118,224,446 (GRCm39) |
K133* |
probably null |
Het |
| Copg2 |
A |
T |
6: 30,793,786 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,488,402 (GRCm39) |
D89E |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Ddx54 |
G |
T |
5: 120,765,209 (GRCm39) |
R826L |
probably damaging |
Het |
| Dlg4 |
G |
T |
11: 69,922,065 (GRCm39) |
K162N |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,790,072 (GRCm39) |
L185H |
probably benign |
Het |
| Dock9 |
C |
T |
14: 121,787,601 (GRCm39) |
|
probably benign |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Etl4 |
A |
G |
2: 20,813,926 (GRCm39) |
I1322V |
probably benign |
Het |
| Exd1 |
T |
C |
2: 119,355,064 (GRCm39) |
K284E |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,445,462 (GRCm39) |
T786A |
probably damaging |
Het |
| Gm29106 |
A |
C |
1: 118,127,644 (GRCm39) |
E445D |
possibly damaging |
Het |
| Gm5592 |
T |
C |
7: 40,935,876 (GRCm39) |
L126P |
probably damaging |
Het |
| Grep1 |
A |
G |
17: 23,936,187 (GRCm39) |
Y19H |
unknown |
Het |
| Gtf3c2 |
T |
G |
5: 31,325,773 (GRCm39) |
T389P |
probably damaging |
Het |
| Hhipl1 |
C |
A |
12: 108,294,100 (GRCm39) |
R669S |
probably benign |
Het |
| Hivep1 |
A |
G |
13: 42,337,252 (GRCm39) |
T2444A |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,238,380 (GRCm39) |
E289G |
probably damaging |
Het |
| Htatip2 |
C |
A |
7: 49,408,987 (GRCm39) |
T9K |
unknown |
Het |
| Ifngr1 |
T |
C |
10: 19,483,041 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,252,925 (GRCm39) |
N359D |
probably benign |
Het |
| Mat1a |
A |
G |
14: 40,836,803 (GRCm39) |
R178G |
probably damaging |
Het |
| Mknk2 |
C |
T |
10: 80,505,496 (GRCm39) |
R154H |
probably benign |
Het |
| Myh14 |
C |
T |
7: 44,273,743 (GRCm39) |
|
probably null |
Het |
| Myof |
A |
G |
19: 37,966,096 (GRCm39) |
|
probably null |
Het |
| Nfe2l1 |
G |
T |
11: 96,718,453 (GRCm39) |
D27E |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,859,950 (GRCm39) |
Y35C |
|
Het |
| Or4a15 |
A |
T |
2: 89,193,243 (GRCm39) |
C177S |
probably damaging |
Het |
| Or4k51 |
T |
C |
2: 111,585,218 (GRCm39) |
V208A |
probably benign |
Het |
| Or5p61 |
A |
G |
7: 107,758,468 (GRCm39) |
V204A |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,238,144 (GRCm39) |
V242A |
possibly damaging |
Het |
| Plec |
C |
A |
15: 76,067,987 (GRCm39) |
Q1139H |
unknown |
Het |
| Plxna2 |
T |
A |
1: 194,326,692 (GRCm39) |
S209T |
probably benign |
Het |
| Plxnd1 |
T |
C |
6: 115,940,277 (GRCm39) |
E1369G |
possibly damaging |
Het |
| Psd3 |
T |
C |
8: 68,363,487 (GRCm39) |
I3V |
unknown |
Het |
| Pwp1 |
T |
A |
10: 85,714,428 (GRCm39) |
F195L |
probably damaging |
Het |
| Rab3ip |
C |
T |
10: 116,775,354 (GRCm39) |
M1I |
probably null |
Het |
| Rad54l2 |
T |
C |
9: 106,585,488 (GRCm39) |
K759R |
probably benign |
Het |
| Rims2 |
G |
T |
15: 39,300,724 (GRCm39) |
V344L |
probably damaging |
Het |
| Robo1 |
G |
A |
16: 72,803,718 (GRCm39) |
R1088Q |
probably benign |
Het |
| Rtf2 |
A |
G |
2: 172,282,745 (GRCm39) |
|
probably benign |
Het |
| Serhl |
A |
C |
15: 82,987,167 (GRCm39) |
K131N |
possibly damaging |
Het |
| Sidt1 |
T |
A |
16: 44,075,392 (GRCm39) |
|
probably null |
Het |
| Slc27a1 |
T |
A |
8: 72,032,808 (GRCm39) |
Y248* |
probably null |
Het |
| Slitrk3 |
T |
A |
3: 72,958,616 (GRCm39) |
E52V |
possibly damaging |
Het |
| Snx2 |
T |
C |
18: 53,343,415 (GRCm39) |
V271A |
probably benign |
Het |
| Snx9 |
C |
A |
17: 5,949,768 (GRCm39) |
P156Q |
probably damaging |
Het |
| Spag6 |
C |
A |
2: 18,715,369 (GRCm39) |
Y71* |
probably null |
Het |
| Speer4a3 |
T |
A |
5: 26,156,569 (GRCm39) |
K137* |
probably null |
Het |
| Speg |
A |
G |
1: 75,394,377 (GRCm39) |
D1724G |
probably damaging |
Het |
| Syt7 |
A |
G |
19: 10,421,532 (GRCm39) |
N572S |
probably damaging |
Het |
| Thoc2l |
C |
A |
5: 104,668,644 (GRCm39) |
S1055R |
probably benign |
Het |
| Ticam2 |
A |
G |
18: 46,693,766 (GRCm39) |
I107T |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmem268 |
G |
A |
4: 63,488,256 (GRCm39) |
V135M |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,611,663 (GRCm39) |
T519A |
possibly damaging |
Het |
| Trim43b |
G |
A |
9: 88,973,608 (GRCm39) |
L42F |
possibly damaging |
Het |
| Ttf2 |
A |
C |
3: 100,852,089 (GRCm39) |
V1019G |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,292,158 (GRCm39) |
D97G |
probably benign |
Het |
| Uncx |
A |
G |
5: 139,532,475 (GRCm39) |
N180S |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,352 (GRCm39) |
T552A |
probably damaging |
Het |
| Vmn2r51 |
A |
T |
7: 9,833,816 (GRCm39) |
H407Q |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,855,518 (GRCm39) |
E699K |
|
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 |
|
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 |
|
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'- TGGCTGTCCTAAGCTGTCATC -3'
(R):5'- CGAGGCACGATTTTACTTGATTC -3'
Sequencing Primer
(F):5'- CCTGCAACTTTGATACAGG -3'
(R):5'- ACTTGCCGTGCTGAAGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation