Incidental Mutation 'R8682:Wdr95'
ID |
661802 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr95
|
Ensembl Gene |
ENSMUSG00000029658 |
Gene Name |
WD40 repeat domain 95 |
Synonyms |
4930434E21Rik |
MMRRC Submission |
068537-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R8682 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
149452144-149535359 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 149518752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 531
(T531I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144385
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110502]
[ENSMUST00000201525]
[ENSMUST00000202902]
|
AlphaFold |
D3Z7A8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110502
AA Change: T389I
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106128 Gene: ENSMUSG00000029658 AA Change: T389I
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 |
possibly damaging
Transcript: ENSMUST00000202902
AA Change: T531I
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144385 Gene: ENSMUSG00000029658 AA Change: T531I
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: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
T |
A |
11: 58,314,725 (GRCm39) |
L141Q |
probably null |
Het |
Abtb2 |
A |
T |
2: 103,397,720 (GRCm39) |
T217S |
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
Angpt4 |
A |
G |
2: 151,769,005 (GRCm39) |
M172V |
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,831,532 (GRCm39) |
V1194D |
probably damaging |
Het |
Arhgap30 |
T |
C |
1: 171,234,970 (GRCm39) |
S479P |
probably benign |
Het |
Asah2 |
C |
T |
19: 32,030,277 (GRCm39) |
V132M |
probably damaging |
Het |
Bmp10 |
A |
G |
6: 87,410,541 (GRCm39) |
|
probably null |
Het |
Bsn |
T |
C |
9: 107,983,368 (GRCm39) |
Y790C |
|
Het |
Cacna2d1 |
C |
A |
5: 16,558,837 (GRCm39) |
R732S |
possibly damaging |
Het |
Casr |
A |
T |
16: 36,315,784 (GRCm39) |
F762Y |
possibly damaging |
Het |
Cbln1 |
T |
C |
8: 88,198,735 (GRCm39) |
D45G |
possibly damaging |
Het |
Cd177 |
A |
T |
7: 24,459,438 (GRCm39) |
M61K |
possibly damaging |
Het |
Cdh11 |
T |
C |
8: 103,377,348 (GRCm39) |
I433V |
probably benign |
Het |
Cdhr5 |
A |
G |
7: 140,855,899 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
A |
9: 79,568,358 (GRCm39) |
K1622I |
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,337,917 (GRCm39) |
D103G |
probably damaging |
Het |
Dync2i1 |
A |
T |
12: 116,188,610 (GRCm39) |
H661Q |
probably damaging |
Het |
Eif4a3l1 |
A |
G |
6: 136,306,027 (GRCm39) |
T163A |
possibly damaging |
Het |
Fem1b |
A |
T |
9: 62,704,432 (GRCm39) |
L276* |
probably null |
Het |
Fggy |
T |
A |
4: 95,700,358 (GRCm39) |
V343E |
probably damaging |
Het |
Flt3 |
A |
G |
5: 147,320,265 (GRCm39) |
V33A |
probably benign |
Het |
Grn |
T |
C |
11: 102,325,646 (GRCm39) |
Y288H |
probably benign |
Het |
Grtp1 |
G |
A |
8: 13,229,499 (GRCm39) |
R272W |
probably damaging |
Het |
H2-Aa |
A |
G |
17: 34,502,734 (GRCm39) |
I144T |
possibly damaging |
Het |
Herc1 |
A |
G |
9: 66,370,130 (GRCm39) |
D469G |
|
Het |
Hsf2 |
G |
A |
10: 57,381,267 (GRCm39) |
E286K |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,035,798 (GRCm39) |
E163G |
probably damaging |
Het |
Il6ra |
A |
G |
3: 89,793,976 (GRCm39) |
I224T |
possibly damaging |
Het |
Itih3 |
T |
A |
14: 30,642,673 (GRCm39) |
I204F |
possibly damaging |
Het |
Kcnj9 |
A |
T |
1: 172,153,680 (GRCm39) |
M148K |
possibly damaging |
Het |
Lepr |
T |
G |
4: 101,649,269 (GRCm39) |
V890G |
probably benign |
Het |
Mslnl |
A |
G |
17: 25,965,962 (GRCm39) |
D612G |
probably benign |
Het |
Myl2 |
T |
A |
5: 122,244,798 (GRCm39) |
V156D |
probably damaging |
Het |
Neb |
C |
A |
2: 52,136,857 (GRCm39) |
W3208L |
probably damaging |
Het |
Neto2 |
T |
C |
8: 86,367,295 (GRCm39) |
Y511C |
probably benign |
Het |
Obi1 |
G |
T |
14: 104,717,669 (GRCm39) |
R235S |
probably damaging |
Het |
Obox2 |
C |
A |
7: 15,130,912 (GRCm39) |
T48K |
possibly damaging |
Het |
Or14a259 |
C |
T |
7: 86,013,373 (GRCm39) |
M57I |
probably damaging |
Het |
Or51f2 |
T |
A |
7: 102,526,646 (GRCm39) |
F106L |
probably benign |
Het |
Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
Osbpl6 |
C |
G |
2: 76,407,425 (GRCm39) |
H486D |
probably benign |
Het |
Pfkfb3 |
T |
C |
2: 11,489,144 (GRCm39) |
K264E |
probably benign |
Het |
Phf11 |
G |
A |
14: 59,496,033 (GRCm39) |
T27I |
probably benign |
Het |
Pla2r1 |
T |
A |
2: 60,253,120 (GRCm39) |
T1324S |
possibly damaging |
Het |
Plekhg1 |
A |
T |
10: 3,897,523 (GRCm39) |
Y495F |
|
Het |
Ppp2r5d |
T |
C |
17: 46,997,989 (GRCm39) |
K225E |
probably benign |
Het |
Ptpn11 |
T |
C |
5: 121,306,053 (GRCm39) |
D64G |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,742,849 (GRCm39) |
I431T |
probably damaging |
Het |
Rapgef5 |
T |
C |
12: 117,545,432 (GRCm39) |
S100P |
probably benign |
Het |
Shh |
T |
A |
5: 28,663,058 (GRCm39) |
H370L |
probably benign |
Het |
Siah3 |
A |
T |
14: 75,763,043 (GRCm39) |
H98L |
possibly damaging |
Het |
Sim2 |
C |
T |
16: 93,924,192 (GRCm39) |
H446Y |
probably benign |
Het |
Skint4 |
T |
C |
4: 111,993,237 (GRCm39) |
I320T |
possibly damaging |
Het |
Sorcs1 |
A |
T |
19: 50,367,398 (GRCm39) |
N221K |
probably damaging |
Het |
Sox6 |
T |
C |
7: 115,076,191 (GRCm39) |
S816G |
probably damaging |
Het |
Sphkap |
T |
C |
1: 83,256,997 (GRCm39) |
T251A |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,533,796 (GRCm39) |
V3351A |
possibly damaging |
Het |
Tbc1d15 |
A |
G |
10: 115,046,195 (GRCm39) |
V436A |
probably benign |
Het |
Thsd7b |
A |
T |
1: 129,688,011 (GRCm39) |
K641* |
probably null |
Het |
Tmc5 |
G |
T |
7: 118,269,925 (GRCm39) |
V892F |
possibly damaging |
Het |
Tpsab1 |
T |
A |
17: 25,562,685 (GRCm39) |
H238L |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,194,412 (GRCm39) |
N812S |
probably benign |
Het |
Trio |
T |
A |
15: 27,905,278 (GRCm39) |
N163Y |
unknown |
Het |
Ttc39d |
A |
G |
17: 80,524,693 (GRCm39) |
T451A |
probably benign |
Het |
Ube3b |
T |
C |
5: 114,550,351 (GRCm39) |
L832P |
probably damaging |
Het |
Vmn2r15 |
C |
A |
5: 109,441,938 (GRCm39) |
C165F |
probably damaging |
Het |
Vmn2r90 |
T |
C |
17: 17,932,344 (GRCm39) |
F84L |
possibly damaging |
Het |
Zcrb1 |
C |
A |
15: 93,284,118 (GRCm39) |
G191V |
probably benign |
Het |
Zfp111 |
G |
A |
7: 23,897,983 (GRCm39) |
P544S |
probably damaging |
Het |
Zfyve9 |
T |
C |
4: 108,576,539 (GRCm39) |
S181G |
probably benign |
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 |
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'- CTAAGTGACTGAAGTTGAGTTACTG -3'
(R):5'- TCCCATAAGAGCATCTCACAGG -3'
Sequencing Primer
(F):5'- GAGACAGGATTTCTTTGTAAACCCCC -3'
(R):5'- GGAACCAAAGCAATCTTATCTAGG -3'
|
Posted On |
2021-03-08 |