Incidental Mutation 'R7008:Wdr95'
ID |
544829 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr95
|
Ensembl Gene |
ENSMUSG00000029658 |
Gene Name |
WD40 repeat domain 95 |
Synonyms |
4930434E21Rik |
MMRRC Submission |
045110-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R7008 (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 149535005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 721
(L721P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144385
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110502]
[ENSMUST00000201452]
[ENSMUST00000202902]
|
AlphaFold |
D3Z7A8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110502
AA Change: L579P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106128 Gene: ENSMUSG00000029658 AA Change: L579P
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: ENSMUST00000201452
|
SMART Domains |
Protein: ENSMUSP00000144654 Gene: ENSMUSG00000029657
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
709 |
7.3e-190 |
PFAM |
low complexity region
|
756 |
768 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202902
AA Change: L721P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000144385 Gene: ENSMUSG00000029658 AA Change: L721P
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
T |
A |
5: 90,407,955 (GRCm39) |
I1421F |
possibly damaging |
Het |
Arhgef11 |
C |
A |
3: 87,636,525 (GRCm39) |
T992K |
possibly damaging |
Het |
Arid1b |
T |
C |
17: 5,341,254 (GRCm39) |
Y853H |
probably damaging |
Het |
Bcl10 |
G |
T |
3: 145,639,054 (GRCm39) |
R232L |
probably benign |
Het |
Best2 |
T |
A |
8: 85,739,840 (GRCm39) |
I76F |
possibly damaging |
Het |
Card11 |
G |
C |
5: 140,859,148 (GRCm39) |
R1133G |
probably damaging |
Het |
Card9 |
T |
C |
2: 26,247,811 (GRCm39) |
D180G |
possibly damaging |
Het |
Ccdc162 |
T |
A |
10: 41,428,411 (GRCm39) |
E119V |
probably damaging |
Het |
Ccdc168 |
T |
C |
1: 44,098,785 (GRCm39) |
D771G |
probably benign |
Het |
Cd2bp2 |
T |
C |
7: 126,794,567 (GRCm39) |
D15G |
possibly damaging |
Het |
Cdk7 |
A |
C |
13: 100,854,129 (GRCm39) |
M120R |
probably damaging |
Het |
Cryba4 |
T |
A |
5: 112,399,648 (GRCm39) |
T2S |
probably benign |
Het |
Cyp19a1 |
A |
T |
9: 54,100,609 (GRCm39) |
M26K |
probably benign |
Het |
Dgcr2 |
A |
G |
16: 17,662,865 (GRCm39) |
S157P |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,217,735 (GRCm39) |
F782S |
possibly damaging |
Het |
Ephb4 |
T |
A |
5: 137,359,536 (GRCm39) |
S369T |
probably benign |
Het |
Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
C |
13: 23,806,192 (GRCm39) |
K97E |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,900,582 (GRCm39) |
D118E |
probably benign |
Het |
Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
Klhl5 |
T |
C |
5: 65,300,592 (GRCm39) |
S52P |
probably benign |
Het |
Lrrc28 |
A |
T |
7: 67,245,459 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
T |
G |
1: 40,028,131 (GRCm39) |
D317E |
probably benign |
Het |
Maz |
A |
T |
7: 126,623,784 (GRCm39) |
C66S |
probably damaging |
Het |
Mbd4 |
T |
C |
6: 115,827,685 (GRCm39) |
T43A |
possibly damaging |
Het |
Milr1 |
T |
A |
11: 106,642,140 (GRCm39) |
S11T |
probably damaging |
Het |
Mthfd2l |
T |
A |
5: 91,107,587 (GRCm39) |
C150S |
probably damaging |
Het |
Nemf |
A |
T |
12: 69,388,395 (GRCm39) |
N325K |
possibly damaging |
Het |
Nemf |
C |
T |
12: 69,400,567 (GRCm39) |
|
probably null |
Het |
Nod2 |
T |
A |
8: 89,390,285 (GRCm39) |
C197* |
probably null |
Het |
Odf2l |
A |
G |
3: 144,838,495 (GRCm39) |
K241E |
probably damaging |
Het |
Or4z4 |
G |
A |
19: 12,076,214 (GRCm39) |
T263I |
possibly damaging |
Het |
Or5b124 |
A |
T |
19: 13,610,985 (GRCm39) |
N170I |
probably damaging |
Het |
Osbpl10 |
T |
G |
9: 114,890,916 (GRCm39) |
D101E |
probably damaging |
Het |
Osgin1 |
T |
C |
8: 120,168,233 (GRCm39) |
V20A |
possibly damaging |
Het |
Pan3 |
T |
A |
5: 147,482,503 (GRCm39) |
C438S |
probably damaging |
Het |
Plaa |
A |
G |
4: 94,457,586 (GRCm39) |
*795Q |
probably null |
Het |
Prss35 |
T |
C |
9: 86,638,361 (GRCm39) |
V377A |
probably benign |
Het |
Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
Rdh16f1 |
A |
G |
10: 127,626,775 (GRCm39) |
H276R |
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Sez6l |
T |
C |
5: 112,612,561 (GRCm39) |
Y460C |
probably damaging |
Het |
Sipa1l1 |
T |
G |
12: 82,409,886 (GRCm39) |
M600R |
probably damaging |
Het |
Slc11a2 |
T |
C |
15: 100,307,205 (GRCm39) |
Y92C |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,117,266 (GRCm39) |
T712A |
probably benign |
Het |
Sntb1 |
A |
T |
15: 55,655,468 (GRCm39) |
Y249* |
probably null |
Het |
Spatc1 |
A |
G |
15: 76,167,923 (GRCm39) |
I127M |
probably benign |
Het |
Sting1 |
C |
A |
18: 35,868,224 (GRCm39) |
R292L |
probably damaging |
Het |
Synj1 |
A |
T |
16: 90,790,833 (GRCm39) |
N109K |
probably damaging |
Het |
Tdg |
T |
A |
10: 82,484,475 (GRCm39) |
M396K |
possibly damaging |
Het |
Tmem252 |
T |
C |
19: 24,651,656 (GRCm39) |
V75A |
probably damaging |
Het |
Trim40 |
T |
C |
17: 37,194,868 (GRCm39) |
Q142R |
probably damaging |
Het |
Trip6 |
T |
C |
5: 137,311,228 (GRCm39) |
T163A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,724,986 (GRCm39) |
|
probably benign |
Het |
Zfp385c |
A |
T |
11: 100,521,513 (GRCm39) |
D182E |
probably damaging |
Het |
Zfp597 |
A |
G |
16: 3,683,631 (GRCm39) |
F375S |
probably benign |
Het |
Zfp658 |
T |
G |
7: 43,223,336 (GRCm39) |
F537C |
possibly damaging |
Het |
Zgrf1 |
T |
C |
3: 127,355,421 (GRCm39) |
F216L |
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 |
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'- AATTCAGAAGGCATGCTGGG -3'
(R):5'- TCCATGACACAGGAAAGAACTG -3'
Sequencing Primer
(F):5'- AAGGCATGCTGGGGTGCTC -3'
(R):5'- AGGTCAAGGTCCTTAGCACTC -3'
|
Posted On |
2019-05-13 |