Incidental Mutation 'R9453:Wdr95'
| ID |
714385 |
| 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 # |
R9453 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
149452144-149535359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149475917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 72
(S72P)
|
| 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 |
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 |
probably damaging
Transcript: ENSMUST00000202902
AA Change: S72P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144385
Gene: ENSMUSG00000029658
AA Change: S72P
| 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 |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,771,054 (GRCm39) |
A179T |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,138,090 (GRCm39) |
|
probably null |
Het |
| Agps |
A |
C |
2: 75,662,585 (GRCm39) |
D10A |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,081,578 (GRCm39) |
D1162E |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,239,659 (GRCm39) |
K851R |
unknown |
Het |
| Cdh15 |
A |
G |
8: 123,586,029 (GRCm39) |
D136G |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,190,585 (GRCm39) |
Y459N |
probably damaging |
Het |
| Cep192 |
A |
T |
18: 67,989,354 (GRCm39) |
K1834* |
probably null |
Het |
| Cfap221 |
C |
T |
1: 119,853,361 (GRCm39) |
V778I |
probably benign |
Het |
| Chpf |
G |
A |
1: 75,452,854 (GRCm39) |
T362I |
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 114,991,069 (GRCm39) |
R36G |
probably damaging |
Het |
| D16Ertd472e |
T |
A |
16: 78,342,052 (GRCm39) |
Q276L |
probably damaging |
Het |
| Dapk3 |
T |
C |
10: 81,025,825 (GRCm39) |
Y39H |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,353,337 (GRCm39) |
T111A |
probably damaging |
Het |
| Ehbp1l1 |
G |
A |
19: 5,758,371 (GRCm39) |
R1714C |
unknown |
Het |
| Flcn |
A |
G |
11: 59,694,609 (GRCm39) |
V121A |
probably damaging |
Het |
| Gaa |
G |
T |
11: 119,165,958 (GRCm39) |
D423Y |
probably damaging |
Het |
| Gaa |
A |
C |
11: 119,165,959 (GRCm39) |
D423A |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,893,881 (GRCm39) |
I694T |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,242 (GRCm39) |
Q459L |
probably damaging |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,612,655 (GRCm39) |
|
probably null |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lmnb1 |
G |
A |
18: 56,873,114 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,288,832 (GRCm39) |
Y3678C |
probably damaging |
Het |
| Map7 |
T |
C |
10: 20,153,981 (GRCm39) |
V699A |
unknown |
Het |
| Mme |
G |
T |
3: 63,272,306 (GRCm39) |
G635V |
possibly damaging |
Het |
| Mroh8 |
A |
T |
2: 157,071,948 (GRCm39) |
I519N |
possibly damaging |
Het |
| Mrps11 |
T |
C |
7: 78,442,390 (GRCm39) |
S157P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,572,061 (GRCm39) |
T153A |
unknown |
Het |
| Nlrp1b |
A |
G |
11: 71,072,913 (GRCm39) |
V310A |
probably damaging |
Het |
| Oas1f |
T |
C |
5: 120,993,592 (GRCm39) |
V268A |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,770,817 (GRCm39) |
I51N |
|
Het |
| Or6y1 |
A |
T |
1: 174,276,233 (GRCm39) |
T15S |
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,479,950 (GRCm39) |
L401P |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,016,056 (GRCm39) |
*1022Q |
probably null |
Het |
| Plcl2 |
C |
A |
17: 50,915,391 (GRCm39) |
T800K |
probably damaging |
Het |
| Polr1has |
TCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCAC |
17: 37,275,939 (GRCm39) |
|
probably benign |
Het |
| Ppp1r37 |
A |
T |
7: 19,295,796 (GRCm39) |
F54I |
probably damaging |
Het |
| Prl7c1 |
T |
A |
13: 27,957,870 (GRCm39) |
Y190F |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,397,212 (GRCm39) |
E2015G |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,579,641 (GRCm39) |
V457A |
|
Het |
| Samd13 |
A |
T |
3: 146,368,510 (GRCm39) |
D27E |
|
Het |
| Sephs1 |
A |
T |
2: 4,889,174 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
T |
G |
19: 6,023,024 (GRCm39) |
Q373P |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,629,179 (GRCm39) |
*483W |
probably null |
Het |
| Src |
A |
T |
2: 157,307,852 (GRCm39) |
T254S |
probably damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,569,344 (GRCm39) |
M301K |
possibly damaging |
Het |
| Tnfsf13 |
A |
T |
11: 69,576,010 (GRCm39) |
W26R |
probably damaging |
Het |
| Trbv28 |
T |
A |
6: 41,248,687 (GRCm39) |
D72E |
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,436,561 (GRCm39) |
|
probably benign |
Het |
| Ttc39d |
T |
C |
17: 80,524,754 (GRCm39) |
F471S |
probably damaging |
Het |
| Vav1 |
C |
T |
17: 57,613,191 (GRCm39) |
P621L |
probably benign |
Het |
| Vezt |
A |
T |
10: 93,832,856 (GRCm39) |
L185* |
probably null |
Het |
| Vmn2r42 |
T |
C |
7: 8,187,295 (GRCm39) |
I826V |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,800,697 (GRCm39) |
T413M |
probably benign |
Het |
| Vnn1 |
G |
A |
10: 23,776,723 (GRCm39) |
C358Y |
probably damaging |
Het |
| Wdr83os |
G |
C |
8: 85,808,638 (GRCm39) |
W106C |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,251 (GRCm39) |
T698S |
probably damaging |
Het |
| Zfp521 |
G |
A |
18: 13,977,293 (GRCm39) |
T1040I |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,308,565 (GRCm39) |
V9E |
|
Het |
| Zmym2 |
T |
A |
14: 57,180,770 (GRCm39) |
V894E |
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 |
|
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 |
|
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'- AGCTTCCAACCCTGTAAATGG -3'
(R):5'- GGTGTGAGACTTAGCAACCTTAAC -3'
Sequencing Primer
(F):5'- AACAACTAAGTATTCCACCCCC -3'
(R):5'- GAGACTTAGCAACCTTAACTACCAAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation