Incidental Mutation 'IGL01991:Wscd1'
| ID |
182861 |
| 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 # |
IGL01991
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
71640746-71680473 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 71678549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 391
(K391*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021168]
[ENSMUST00000108510]
[ENSMUST00000108511]
|
| AlphaFold |
Q80XH4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021168
AA Change: K391*
|
| SMART Domains |
Protein: ENSMUSP00000021168
Gene: ENSMUSG00000020811
AA Change: K391*
| 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 null
Transcript: ENSMUST00000108510
AA Change: K391*
|
| SMART Domains |
Protein: ENSMUSP00000104150
Gene: ENSMUSG00000020811
AA Change: K391*
| 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 null
Transcript: ENSMUST00000108511
AA Change: K391*
|
| SMART Domains |
Protein: ENSMUSP00000104151
Gene: ENSMUSG00000020811
AA Change: K391*
| 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 |
|---|
| 1700034J05Rik |
A |
T |
6: 146,854,608 (GRCm39) |
F145I |
probably benign |
Het |
| Acot7 |
A |
G |
4: 152,307,536 (GRCm39) |
K152E |
possibly damaging |
Het |
| Adamts13 |
G |
T |
2: 26,880,610 (GRCm39) |
G731V |
probably damaging |
Het |
| Als2cl |
C |
T |
9: 110,721,985 (GRCm39) |
R584C |
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,914,836 (GRCm39) |
S679T |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,649,219 (GRCm39) |
V403I |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,899,133 (GRCm39) |
T14A |
possibly damaging |
Het |
| Creb1 |
T |
C |
1: 64,598,913 (GRCm39) |
F97L |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,823,241 (GRCm39) |
H407Q |
probably benign |
Het |
| Crtac1 |
A |
T |
19: 42,402,560 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Cyp2c29 |
T |
C |
19: 39,318,759 (GRCm39) |
I452T |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,982,322 (GRCm39) |
D95E |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,090,600 (GRCm39) |
P1002L |
probably damaging |
Het |
| Gm6878 |
G |
A |
14: 67,543,678 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,682 (GRCm39) |
Y1048C |
probably damaging |
Het |
| Iqcc |
T |
A |
4: 129,511,582 (GRCm39) |
E105V |
probably benign |
Het |
| Lhx8 |
A |
G |
3: 154,030,191 (GRCm39) |
L116P |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,664,149 (GRCm39) |
D1962G |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,566,077 (GRCm39) |
M2215L |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,146,835 (GRCm39) |
L136Q |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,912,172 (GRCm39) |
N1896D |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,645,838 (GRCm39) |
E674G |
probably damaging |
Het |
| Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
| Or8j3 |
T |
C |
2: 86,028,877 (GRCm39) |
N73S |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,299,807 (GRCm39) |
|
probably null |
Het |
| Pramel41 |
A |
T |
5: 94,593,705 (GRCm39) |
Q10L |
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,204,848 (GRCm39) |
T209A |
probably benign |
Het |
| Prom2 |
C |
A |
2: 127,371,142 (GRCm39) |
C785F |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,418,350 (GRCm39) |
Q139R |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,443,695 (GRCm39) |
C93S |
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Scn11a |
A |
G |
9: 119,648,970 (GRCm39) |
I31T |
probably damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,240,525 (GRCm39) |
D164V |
possibly damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,830 (GRCm39) |
I208V |
probably benign |
Het |
| Traf4 |
T |
C |
11: 78,050,872 (GRCm39) |
D428G |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,871,360 (GRCm39) |
I586V |
possibly damaging |
Het |
| Unc80 |
T |
A |
1: 66,508,668 (GRCm39) |
C46* |
probably null |
Het |
| Vmn2r89 |
A |
G |
14: 51,689,676 (GRCm39) |
N60D |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 48,322,901 (GRCm39) |
L400* |
probably null |
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 |
|
IGL02211:Wscd1
|
APN |
11 |
71,679,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation