Incidental Mutation 'R2938:Wdsub1'
ID |
256080 |
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 |
040515-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R2938 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
59682708-59712935 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59703630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 112
(T112A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114814
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028368]
[ENSMUST00000102751]
[ENSMUST00000128671]
[ENSMUST00000133809]
[ENSMUST00000140475]
|
AlphaFold |
Q9D0I6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028368
AA Change: T233A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000028368 Gene: ENSMUSG00000026988 AA Change: T233A
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 |
probably benign
Transcript: ENSMUST00000102751
AA Change: T233A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000099812 Gene: ENSMUSG00000026988 AA Change: T233A
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 |
probably benign
Transcript: ENSMUST00000128671
|
SMART Domains |
Protein: ENSMUSP00000121242 Gene: ENSMUSG00000026988
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 |
Blast:WD40
|
169 |
194 |
1e-9 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133809
AA Change: T112A
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000114814 Gene: ENSMUSG00000026988 AA Change: T112A
Domain | Start | End | E-Value | Type |
WD40
|
7 |
46 |
1.5e-3 |
SMART |
WD40
|
48 |
96 |
2.48e-4 |
SMART |
WD40
|
106 |
145 |
6e-3 |
SMART |
low complexity region
|
163 |
175 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000139689
AA Change: T97A
|
SMART Domains |
Protein: ENSMUSP00000121438 Gene: ENSMUSG00000026988 AA Change: T97A
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140475
|
SMART Domains |
Protein: ENSMUSP00000114811 Gene: ENSMUSG00000026988
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 |
Blast:WD40
|
169 |
194 |
1e-9 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140852
|
Meta Mutation Damage Score |
0.0992 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef2 |
T |
A |
2: 166,736,653 (GRCm39) |
I1775K |
probably damaging |
Het |
Arhgap45 |
T |
A |
10: 79,864,836 (GRCm39) |
M933K |
probably damaging |
Het |
Astn2 |
A |
T |
4: 65,910,550 (GRCm39) |
H427Q |
possibly damaging |
Het |
Bace2 |
T |
C |
16: 97,213,388 (GRCm39) |
|
probably null |
Het |
Cacna1b |
A |
G |
2: 24,496,540 (GRCm39) |
V125A |
probably benign |
Het |
Cbarp |
T |
C |
10: 79,967,603 (GRCm39) |
D539G |
probably damaging |
Het |
Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
Ccdc73 |
T |
A |
2: 104,805,980 (GRCm39) |
L296* |
probably null |
Het |
Cd40 |
G |
C |
2: 164,911,622 (GRCm39) |
V191L |
probably benign |
Het |
Cdc6 |
A |
G |
11: 98,801,586 (GRCm39) |
I217V |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cdr1 |
T |
G |
X: 60,228,968 (GRCm39) |
D66A |
unknown |
Het |
Cela3b |
A |
G |
4: 137,150,574 (GRCm39) |
I208T |
probably benign |
Het |
Col1a2 |
A |
T |
6: 4,520,788 (GRCm39) |
Q375L |
possibly damaging |
Het |
Csn1s1 |
A |
T |
5: 87,824,995 (GRCm39) |
Q221L |
possibly damaging |
Het |
Cstl1 |
T |
A |
2: 148,592,977 (GRCm39) |
I44N |
possibly damaging |
Het |
Depdc5 |
G |
A |
5: 33,058,965 (GRCm39) |
|
probably null |
Het |
Dthd1 |
A |
G |
5: 63,000,300 (GRCm39) |
I541V |
probably benign |
Het |
Eml6 |
G |
A |
11: 29,783,049 (GRCm39) |
|
probably benign |
Het |
Fkbp15 |
T |
A |
4: 62,222,900 (GRCm39) |
T1000S |
probably benign |
Het |
Gimap8 |
A |
T |
6: 48,635,730 (GRCm39) |
R498S |
possibly damaging |
Het |
Glis1 |
A |
G |
4: 107,489,488 (GRCm39) |
N692D |
possibly damaging |
Het |
Gpr83 |
A |
G |
9: 14,776,167 (GRCm39) |
T163A |
probably benign |
Het |
Hmgcr |
G |
A |
13: 96,799,576 (GRCm39) |
L173F |
probably damaging |
Het |
Htr2b |
T |
A |
1: 86,030,177 (GRCm39) |
I173F |
possibly damaging |
Het |
Ifna11 |
T |
C |
4: 88,738,530 (GRCm39) |
L112P |
probably damaging |
Het |
Lmod1 |
A |
G |
1: 135,291,654 (GRCm39) |
K170E |
probably benign |
Het |
Lrrtm1 |
A |
T |
6: 77,220,635 (GRCm39) |
M31L |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,326,695 (GRCm39) |
N2815S |
probably damaging |
Het |
Man1c1 |
A |
G |
4: 134,430,263 (GRCm39) |
I173T |
possibly damaging |
Het |
Man2b2 |
A |
G |
5: 36,978,330 (GRCm39) |
I318T |
probably benign |
Het |
Mib1 |
T |
A |
18: 10,752,033 (GRCm39) |
|
probably benign |
Het |
Myo10 |
T |
A |
15: 25,795,803 (GRCm39) |
S1315T |
probably damaging |
Het |
Nsun5 |
C |
T |
5: 135,404,317 (GRCm39) |
Q375* |
probably null |
Het |
Opcml |
A |
G |
9: 27,702,682 (GRCm39) |
M1V |
probably null |
Het |
Or4d5 |
A |
T |
9: 40,012,039 (GRCm39) |
I249K |
probably benign |
Het |
Or5m3 |
T |
C |
2: 85,838,357 (GRCm39) |
M79T |
probably damaging |
Het |
Or6c66b |
T |
A |
10: 129,376,484 (GRCm39) |
F26Y |
probably damaging |
Het |
Parm1 |
T |
C |
5: 91,742,328 (GRCm39) |
I232T |
possibly damaging |
Het |
Pdss1 |
T |
A |
2: 22,796,799 (GRCm39) |
|
probably null |
Het |
Pfkfb2 |
G |
A |
1: 130,633,147 (GRCm39) |
T202I |
possibly damaging |
Het |
Postn |
T |
A |
3: 54,277,731 (GRCm39) |
F242Y |
probably damaging |
Het |
Prss12 |
A |
G |
3: 123,280,625 (GRCm39) |
T437A |
probably benign |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rbm10 |
T |
C |
X: 20,513,934 (GRCm39) |
L429P |
possibly damaging |
Het |
Saraf |
A |
G |
8: 34,635,735 (GRCm39) |
N346D |
probably benign |
Het |
Sec31b |
T |
C |
19: 44,524,618 (GRCm39) |
D93G |
probably damaging |
Het |
Sgcg |
A |
T |
14: 61,467,074 (GRCm39) |
F175L |
probably damaging |
Het |
Sh3rf2 |
A |
G |
18: 42,282,789 (GRCm39) |
D449G |
probably benign |
Het |
Slc9a3 |
T |
C |
13: 74,269,788 (GRCm39) |
I52T |
possibly damaging |
Het |
Tcf7 |
A |
T |
11: 52,173,610 (GRCm39) |
|
probably null |
Het |
Tlr1 |
A |
G |
5: 65,083,251 (GRCm39) |
V442A |
probably damaging |
Het |
Tmub1 |
A |
G |
5: 24,650,922 (GRCm39) |
*261Q |
probably null |
Het |
Uck1 |
GCCAACACC |
GCC |
2: 32,146,088 (GRCm39) |
|
probably benign |
Het |
Utp4 |
A |
G |
8: 107,649,561 (GRCm39) |
D670G |
probably damaging |
Het |
Vamp5 |
A |
G |
6: 72,346,323 (GRCm39) |
V91A |
probably benign |
Het |
Vmn1r35 |
A |
T |
6: 66,655,950 (GRCm39) |
M73K |
possibly damaging |
Het |
Vmn2r12 |
C |
T |
5: 109,239,397 (GRCm39) |
E389K |
probably damaging |
Het |
Xpo4 |
G |
T |
14: 57,841,897 (GRCm39) |
Q473K |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,909,130 (GRCm39) |
I797T |
probably damaging |
Het |
Zfp808 |
G |
A |
13: 62,319,032 (GRCm39) |
V67M |
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 |
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 |
R6907:Wdsub1
|
UTSW |
2 |
59,692,028 (GRCm39) |
missense |
possibly damaging |
0.59 |
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'- TCAATGGGTAGCATTTAGAAGACC -3'
(R):5'- GGCTACATACCCAGCTTTTACTG -3'
Sequencing Primer
(F):5'- ACCACGCTTGATGATCTGAG -3'
(R):5'- CAAAGCTGCATGAAGAGT -3'
|
Posted On |
2014-12-29 |