Incidental Mutation 'IGL02211:Wscd1'
| ID |
284720 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wscd1
|
| Ensembl Gene |
ENSMUSG00000020811 |
| Gene Name |
WSC domain containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
71640746-71680473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71679801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 558
(R558H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021168]
[ENSMUST00000108510]
[ENSMUST00000108511]
|
| AlphaFold |
Q80XH4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021168
AA Change: R558H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021168
Gene: ENSMUSG00000020811
AA Change: R558H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
WSC
|
139 |
231 |
8.72e-40 |
SMART |
|
WSC
|
242 |
337 |
2.09e-28 |
SMART |
|
Pfam:Sulfotransfer_1
|
413 |
525 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108510
AA Change: R558H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104150
Gene: ENSMUSG00000020811
AA Change: R558H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
WSC
|
139 |
231 |
8.72e-40 |
SMART |
|
WSC
|
242 |
337 |
2.09e-28 |
SMART |
|
Pfam:Sulfotransfer_1
|
413 |
525 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108511
AA Change: R558H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104151
Gene: ENSMUSG00000020811
AA Change: R558H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
WSC
|
139 |
231 |
8.72e-40 |
SMART |
|
WSC
|
242 |
337 |
2.09e-28 |
SMART |
|
Pfam:Sulfotransfer_1
|
413 |
525 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132095
|
| 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 |
| Wdsub1 |
G |
T |
2: 59,689,080 (GRCm39) |
R381S |
probably damaging |
Het |
|
| Other mutations in Wscd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Wscd1
|
APN |
11 |
71,679,768 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01982:Wscd1
|
APN |
11 |
71,657,699 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01991:Wscd1
|
APN |
11 |
71,678,549 (GRCm39) |
nonsense |
probably null |
|
|
R0011:Wscd1
|
UTSW |
11 |
71,679,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Wscd1
|
UTSW |
11 |
71,679,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Wscd1
|
UTSW |
11 |
71,657,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0371:Wscd1
|
UTSW |
11 |
71,679,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1340:Wscd1
|
UTSW |
11 |
71,659,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1429:Wscd1
|
UTSW |
11 |
71,651,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1511:Wscd1
|
UTSW |
11 |
71,679,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1823:Wscd1
|
UTSW |
11 |
71,651,044 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4772:Wscd1
|
UTSW |
11 |
71,662,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4885:Wscd1
|
UTSW |
11 |
71,650,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5221:Wscd1
|
UTSW |
11 |
71,659,501 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5714:Wscd1
|
UTSW |
11 |
71,675,261 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6351:Wscd1
|
UTSW |
11 |
71,650,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7181:Wscd1
|
UTSW |
11 |
71,650,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7184:Wscd1
|
UTSW |
11 |
71,679,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7461:Wscd1
|
UTSW |
11 |
71,650,799 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7613:Wscd1
|
UTSW |
11 |
71,650,799 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7754:Wscd1
|
UTSW |
11 |
71,675,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7875:Wscd1
|
UTSW |
11 |
71,679,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Wscd1
|
UTSW |
11 |
71,675,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9103:Wscd1
|
UTSW |
11 |
71,674,245 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9220:Wscd1
|
UTSW |
11 |
71,662,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9359:Wscd1
|
UTSW |
11 |
71,650,799 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9473:Wscd1
|
UTSW |
11 |
71,679,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Wscd1
|
UTSW |
11 |
71,679,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Wscd1
|
UTSW |
11 |
71,679,626 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation