Incidental Mutation 'IGL02211:Wdsub1'
ID |
284725 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdsub1
|
Ensembl Gene |
ENSMUSG00000026988 |
Gene Name |
WD repeat, SAM and U-box domain containing 1 |
Synonyms |
2610014F08Rik, 1700048E19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
IGL02211
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
59682708-59712935 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 59689080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 381
(R381S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028368
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028368]
[ENSMUST00000102751]
|
AlphaFold |
Q9D0I6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028368
AA Change: R381S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028368 Gene: ENSMUSG00000026988 AA Change: R381S
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 damaging
Transcript: ENSMUST00000102751
AA Change: R381S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000099812 Gene: ENSMUSG00000026988 AA Change: R381S
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 |
noncoding transcript
Transcript: ENSMUST00000127004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138519
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139689
|
SMART Domains |
Protein: ENSMUSP00000121438 Gene: ENSMUSG00000026988
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 |
noncoding transcript
Transcript: ENSMUST00000144343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144823
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apoc3 |
C |
A |
9: 46,144,513 (GRCm39) |
|
probably benign |
Het |
Atp8a2 |
C |
T |
14: 60,265,425 (GRCm39) |
G304R |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cct4 |
A |
G |
11: 22,943,327 (GRCm39) |
|
probably benign |
Het |
Cd28 |
T |
C |
1: 60,802,153 (GRCm39) |
V24A |
probably damaging |
Het |
Cfap70 |
T |
C |
14: 20,445,040 (GRCm39) |
N1080S |
probably damaging |
Het |
Cpa6 |
A |
T |
1: 10,665,861 (GRCm39) |
I59K |
possibly damaging |
Het |
Cramp1 |
A |
G |
17: 25,196,610 (GRCm39) |
S835P |
possibly damaging |
Het |
Crim1 |
T |
C |
17: 78,662,574 (GRCm39) |
L799S |
probably damaging |
Het |
Cxcl16 |
T |
C |
11: 70,346,858 (GRCm39) |
H95R |
possibly damaging |
Het |
Dip2c |
T |
A |
13: 9,660,883 (GRCm39) |
C915S |
probably damaging |
Het |
Dytn |
T |
A |
1: 63,714,089 (GRCm39) |
N137Y |
possibly damaging |
Het |
Exoc5 |
T |
A |
14: 49,251,667 (GRCm39) |
Q628L |
probably damaging |
Het |
Flii |
A |
G |
11: 60,609,124 (GRCm39) |
|
probably benign |
Het |
Hnrnph3 |
A |
T |
10: 62,853,121 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
A |
G |
6: 90,648,591 (GRCm39) |
L830P |
probably damaging |
Het |
Kank1 |
G |
T |
19: 25,407,702 (GRCm39) |
G1232V |
probably damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,252,483 (GRCm39) |
E228G |
probably damaging |
Het |
Limk1 |
A |
T |
5: 134,686,491 (GRCm39) |
V538E |
probably damaging |
Het |
Mmp20 |
T |
A |
9: 7,655,071 (GRCm39) |
I393K |
probably damaging |
Het |
Mtmr1 |
A |
G |
X: 70,455,863 (GRCm39) |
D574G |
possibly damaging |
Het |
Nr1h2 |
A |
C |
7: 44,199,884 (GRCm39) |
M345R |
probably damaging |
Het |
Nyap1 |
T |
C |
5: 137,737,937 (GRCm39) |
H15R |
probably damaging |
Het |
Or2ak4 |
G |
T |
11: 58,649,196 (GRCm39) |
S235I |
possibly damaging |
Het |
Or52h7 |
A |
T |
7: 104,214,333 (GRCm39) |
K302* |
probably null |
Het |
Pde4b |
T |
G |
4: 102,448,019 (GRCm39) |
|
probably benign |
Het |
Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
Ptges3 |
T |
C |
10: 127,911,927 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,314,064 (GRCm39) |
S1595P |
probably benign |
Het |
Rhbdf2 |
A |
G |
11: 116,491,261 (GRCm39) |
F625L |
possibly damaging |
Het |
Rhpn1 |
T |
C |
15: 75,582,905 (GRCm39) |
S281P |
possibly damaging |
Het |
Samd3 |
G |
T |
10: 26,109,455 (GRCm39) |
G128W |
probably damaging |
Het |
Septin5 |
T |
C |
16: 18,443,629 (GRCm39) |
K51E |
probably damaging |
Het |
Serpina7 |
G |
A |
X: 137,982,062 (GRCm39) |
T185I |
probably damaging |
Het |
Slc25a25 |
A |
G |
2: 32,307,452 (GRCm39) |
V303A |
probably damaging |
Het |
Slc5a4b |
A |
T |
10: 75,896,297 (GRCm39) |
|
probably benign |
Het |
Srpk3 |
A |
T |
X: 72,818,754 (GRCm39) |
H114L |
probably benign |
Het |
Sybu |
T |
G |
15: 44,536,862 (GRCm39) |
Q360P |
probably damaging |
Het |
Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
Wscd1 |
G |
A |
11: 71,679,801 (GRCm39) |
R558H |
probably damaging |
Het |
|
Other mutations in Wdsub1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-04-16 |