Incidental Mutation 'R6907:Wdsub1'
ID |
538808 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdsub1
|
Ensembl Gene |
ENSMUSG00000026988 |
Gene Name |
WD repeat, SAM and U-box domain containing 1 |
Synonyms |
2610014F08Rik, 1700048E19Rik |
MMRRC Submission |
044999-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R6907 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
59682708-59712935 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 59692028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 335
(V335I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028368]
[ENSMUST00000102751]
|
AlphaFold |
Q9D0I6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028368
AA Change: V335I
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000028368 Gene: ENSMUSG00000026988 AA Change: V335I
Domain | Start | End | E-Value | Type |
WD40
|
1 |
38 |
7.85e-7 |
SMART |
WD40
|
43 |
82 |
1.96e-7 |
SMART |
WD40
|
85 |
125 |
5.47e-6 |
SMART |
WD40
|
128 |
167 |
1.5e-3 |
SMART |
WD40
|
169 |
217 |
2.48e-4 |
SMART |
WD40
|
227 |
266 |
4.91e-8 |
SMART |
WD40
|
269 |
308 |
7.05e-9 |
SMART |
SAM
|
327 |
394 |
1.12e-15 |
SMART |
Ubox
|
405 |
468 |
1.69e-24 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102751
AA Change: V335I
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099812 Gene: ENSMUSG00000026988 AA Change: V335I
Domain | Start | End | E-Value | Type |
WD40
|
1 |
38 |
7.85e-7 |
SMART |
WD40
|
43 |
82 |
1.96e-7 |
SMART |
WD40
|
85 |
125 |
5.47e-6 |
SMART |
WD40
|
128 |
167 |
1.5e-3 |
SMART |
WD40
|
169 |
217 |
2.48e-4 |
SMART |
WD40
|
227 |
266 |
4.91e-8 |
SMART |
WD40
|
269 |
308 |
7.05e-9 |
SMART |
SAM
|
327 |
394 |
1.12e-15 |
SMART |
Pfam:U-box
|
402 |
423 |
9.3e-10 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000121438 Gene: ENSMUSG00000026988 AA Change: V200I
Domain | Start | End | E-Value | Type |
WD40
|
1 |
32 |
4.28e0 |
SMART |
WD40
|
34 |
82 |
2.48e-4 |
SMART |
WD40
|
92 |
131 |
4.91e-8 |
SMART |
WD40
|
134 |
173 |
7.05e-9 |
SMART |
Pfam:SAM_2
|
193 |
241 |
5.3e-10 |
PFAM |
Pfam:SAM_1
|
194 |
241 |
2.4e-11 |
PFAM |
|
Meta Mutation Damage Score |
0.1909 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat1 |
T |
C |
8: 112,698,793 (GRCm39) |
I344V |
probably benign |
Het |
Bmper |
A |
T |
9: 23,310,868 (GRCm39) |
Q434L |
probably damaging |
Het |
Cabyr |
A |
G |
18: 12,883,969 (GRCm39) |
Y152C |
probably benign |
Het |
Cactin |
G |
A |
10: 81,159,278 (GRCm39) |
|
probably null |
Het |
Cadps2 |
T |
C |
6: 23,599,505 (GRCm39) |
D238G |
probably damaging |
Het |
Card10 |
T |
C |
15: 78,671,671 (GRCm39) |
T598A |
possibly damaging |
Het |
Ctr9 |
C |
T |
7: 110,629,449 (GRCm39) |
P25L |
probably damaging |
Het |
Entpd5 |
T |
C |
12: 84,424,127 (GRCm39) |
T409A |
probably benign |
Het |
Exd1 |
A |
G |
2: 119,363,957 (GRCm39) |
V137A |
probably damaging |
Het |
Fcgbp |
G |
A |
7: 27,784,443 (GRCm39) |
G168R |
probably damaging |
Het |
Ift88 |
A |
G |
14: 57,683,067 (GRCm39) |
N248S |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,939,888 (GRCm39) |
Y1561N |
probably damaging |
Het |
Mef2c |
A |
G |
13: 83,802,730 (GRCm39) |
D227G |
probably benign |
Het |
Myh2 |
C |
T |
11: 67,084,567 (GRCm39) |
T1702M |
probably damaging |
Het |
Myo1e |
T |
A |
9: 70,234,437 (GRCm39) |
N263K |
probably benign |
Het |
Nfe2l1 |
A |
G |
11: 96,710,636 (GRCm39) |
L373P |
probably damaging |
Het |
Nob1 |
C |
T |
8: 108,142,860 (GRCm39) |
V274M |
possibly damaging |
Het |
Ntng2 |
A |
G |
2: 29,118,218 (GRCm39) |
C77R |
probably damaging |
Het |
Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
Or10ad1c |
T |
C |
15: 98,085,649 (GRCm39) |
N10D |
probably damaging |
Het |
Or5p55 |
T |
C |
7: 107,567,459 (GRCm39) |
L285P |
probably damaging |
Het |
Pcdh7 |
T |
A |
5: 57,876,471 (GRCm39) |
W9R |
possibly damaging |
Het |
Pcdha1 |
A |
G |
18: 37,064,124 (GRCm39) |
T263A |
probably benign |
Het |
Per3 |
C |
T |
4: 151,128,015 (GRCm39) |
|
probably null |
Het |
Pgbd5 |
A |
G |
8: 125,107,021 (GRCm39) |
F265L |
probably damaging |
Het |
Ppm1k |
T |
G |
6: 57,487,755 (GRCm39) |
E356A |
probably benign |
Het |
Ptgfr |
G |
T |
3: 151,540,938 (GRCm39) |
T190K |
possibly damaging |
Het |
Sec24a |
A |
G |
11: 51,603,103 (GRCm39) |
Y782H |
probably damaging |
Het |
Setd1b |
T |
C |
5: 123,301,295 (GRCm39) |
|
probably benign |
Het |
Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
Slc19a2 |
C |
T |
1: 164,090,323 (GRCm39) |
T253I |
possibly damaging |
Het |
Tcf4 |
C |
T |
18: 69,785,484 (GRCm39) |
T207M |
probably damaging |
Het |
Thada |
T |
C |
17: 84,700,897 (GRCm39) |
N1203S |
probably damaging |
Het |
Tln2 |
A |
T |
9: 67,304,917 (GRCm39) |
S5T |
probably damaging |
Het |
Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
Ttbk2 |
A |
G |
2: 120,655,751 (GRCm39) |
S38P |
probably benign |
Het |
Vrk1 |
G |
T |
12: 106,041,291 (GRCm39) |
Q395H |
possibly damaging |
Het |
Vwa3a |
G |
T |
7: 120,391,804 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Wdsub1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02211:Wdsub1
|
APN |
2 |
59,689,080 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02887:Wdsub1
|
APN |
2 |
59,683,176 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02984:Wdsub1
|
UTSW |
2 |
59,707,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R0116:Wdsub1
|
UTSW |
2 |
59,707,009 (GRCm39) |
splice site |
probably null |
|
R0504:Wdsub1
|
UTSW |
2 |
59,708,669 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1437:Wdsub1
|
UTSW |
2 |
59,708,477 (GRCm39) |
missense |
probably damaging |
0.98 |
R1452:Wdsub1
|
UTSW |
2 |
59,707,144 (GRCm39) |
missense |
probably null |
|
R1566:Wdsub1
|
UTSW |
2 |
59,707,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R1767:Wdsub1
|
UTSW |
2 |
59,689,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R2938:Wdsub1
|
UTSW |
2 |
59,703,630 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4209:Wdsub1
|
UTSW |
2 |
59,707,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R4583:Wdsub1
|
UTSW |
2 |
59,708,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R4794:Wdsub1
|
UTSW |
2 |
59,693,188 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4803:Wdsub1
|
UTSW |
2 |
59,700,743 (GRCm39) |
intron |
probably benign |
|
R4987:Wdsub1
|
UTSW |
2 |
59,700,737 (GRCm39) |
intron |
probably benign |
|
R4989:Wdsub1
|
UTSW |
2 |
59,700,758 (GRCm39) |
intron |
probably benign |
|
R5311:Wdsub1
|
UTSW |
2 |
59,708,873 (GRCm39) |
utr 5 prime |
probably benign |
|
R5402:Wdsub1
|
UTSW |
2 |
59,700,822 (GRCm39) |
missense |
probably benign |
|
R5408:Wdsub1
|
UTSW |
2 |
59,691,887 (GRCm39) |
unclassified |
probably benign |
|
R5572:Wdsub1
|
UTSW |
2 |
59,693,051 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5681:Wdsub1
|
UTSW |
2 |
59,683,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R5864:Wdsub1
|
UTSW |
2 |
59,708,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R6582:Wdsub1
|
UTSW |
2 |
59,708,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R6638:Wdsub1
|
UTSW |
2 |
59,700,785 (GRCm39) |
intron |
probably benign |
|
R6678:Wdsub1
|
UTSW |
2 |
59,692,975 (GRCm39) |
missense |
probably benign |
0.45 |
R6842:Wdsub1
|
UTSW |
2 |
59,708,532 (GRCm39) |
missense |
probably benign |
0.09 |
R7041:Wdsub1
|
UTSW |
2 |
59,683,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R7288:Wdsub1
|
UTSW |
2 |
59,708,487 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7769:Wdsub1
|
UTSW |
2 |
59,708,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R7942:Wdsub1
|
UTSW |
2 |
59,707,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R8291:Wdsub1
|
UTSW |
2 |
59,693,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R8309:Wdsub1
|
UTSW |
2 |
59,704,578 (GRCm39) |
unclassified |
probably benign |
|
R8458:Wdsub1
|
UTSW |
2 |
59,692,045 (GRCm39) |
missense |
probably benign |
0.00 |
R8775:Wdsub1
|
UTSW |
2 |
59,693,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R8775-TAIL:Wdsub1
|
UTSW |
2 |
59,693,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Wdsub1
|
UTSW |
2 |
59,688,977 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Wdsub1
|
UTSW |
2 |
59,707,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCCCTCTCCAATGAAGGAC -3'
(R):5'- ACTACTGTAAGAGCTGCTACAC -3'
Sequencing Primer
(F):5'- AGCTAAGCCCATCAGCAGGG -3'
(R):5'- GAGCTGCTACACTTCTTAGAAGG -3'
|
Posted On |
2018-11-06 |