Incidental Mutation 'IGL01760:Chst3'
| ID |
153244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chst3
|
| Ensembl Gene |
ENSMUSG00000057337 |
| Gene Name |
carbohydrate sulfotransferase 3 |
| Synonyms |
C6ST-1, C6ST, GST-0 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
IGL01760
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
60017354-60055082 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60022292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 185
(V185D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068690]
[ENSMUST00000135158]
[ENSMUST00000167915]
|
| AlphaFold |
O88199 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068690
AA Change: V185D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065010
Gene: ENSMUSG00000057337
AA Change: V185D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
101 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
126 |
445 |
4.2e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135158
AA Change: V191D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126281
Gene: ENSMUSG00000057337
AA Change: V191D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
107 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
132 |
451 |
4.9e-57 |
PFAM |
|
Pfam:Sulfotransfer_3
|
133 |
391 |
1.5e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167915
AA Change: V185D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131532
Gene: ENSMUSG00000057337
AA Change: V185D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
101 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
126 |
445 |
4.2e-57 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
A |
8: 84,458,586 (GRCm39) |
T147S |
probably benign |
Het |
| Col14a1 |
A |
C |
15: 55,286,855 (GRCm39) |
D892A |
unknown |
Het |
| Dop1a |
A |
G |
9: 86,401,976 (GRCm39) |
T1059A |
probably benign |
Het |
| Eif1ad3 |
A |
T |
12: 87,843,791 (GRCm39) |
|
probably benign |
Het |
| Erlec1 |
A |
C |
11: 30,884,731 (GRCm39) |
S441A |
probably benign |
Het |
| Frmd4b |
G |
T |
6: 97,285,663 (GRCm39) |
T289N |
probably damaging |
Het |
| Gm6133 |
G |
A |
18: 78,393,390 (GRCm39) |
R128Q |
probably benign |
Het |
| Gnai2 |
A |
G |
9: 107,493,717 (GRCm39) |
S155P |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,239,982 (GRCm39) |
S517P |
possibly damaging |
Het |
| Ighv9-1 |
C |
A |
12: 114,057,814 (GRCm39) |
E29* |
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,409,370 (GRCm39) |
K1583R |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,534,145 (GRCm39) |
T211M |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,817,497 (GRCm39) |
S418P |
probably benign |
Het |
| Napa |
A |
G |
7: 15,832,669 (GRCm39) |
N23S |
possibly damaging |
Het |
| Odf2 |
C |
A |
2: 29,804,472 (GRCm39) |
Q347K |
probably damaging |
Het |
| Ogdhl |
A |
G |
14: 32,061,894 (GRCm39) |
D504G |
probably damaging |
Het |
| Or10aa1 |
T |
C |
1: 173,870,191 (GRCm39) |
L225P |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,677,016 (GRCm39) |
N273K |
probably damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,262,015 (GRCm39) |
I11V |
probably benign |
Het |
| Spidr |
G |
T |
16: 15,730,424 (GRCm39) |
R664S |
possibly damaging |
Het |
| Tead3 |
T |
C |
17: 28,552,055 (GRCm39) |
N385S |
probably benign |
Het |
| Trim13 |
T |
A |
14: 61,843,172 (GRCm39) |
N396K |
probably benign |
Het |
| Trp53bp2 |
C |
T |
1: 182,275,993 (GRCm39) |
A160V |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,072 (GRCm39) |
S689P |
possibly damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,366 (GRCm39) |
Q255L |
probably benign |
Het |
| Wsb1 |
T |
C |
11: 79,132,867 (GRCm39) |
Y276C |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,639,547 (GRCm39) |
N1233K |
probably damaging |
Het |
|
| Other mutations in Chst3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Chst3
|
APN |
10 |
60,021,441 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01301:Chst3
|
APN |
10 |
60,021,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Chst3
|
APN |
10 |
60,022,261 (GRCm39) |
nonsense |
probably null |
|
|
ANU18:Chst3
|
UTSW |
10 |
60,021,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Chst3
|
UTSW |
10 |
60,022,535 (GRCm39) |
missense |
probably benign |
|
|
R0501:Chst3
|
UTSW |
10 |
60,022,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1698:Chst3
|
UTSW |
10 |
60,021,525 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1807:Chst3
|
UTSW |
10 |
60,022,130 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4250:Chst3
|
UTSW |
10 |
60,021,890 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9090:Chst3
|
UTSW |
10 |
60,021,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Chst3
|
UTSW |
10 |
60,021,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Chst3
|
UTSW |
10 |
60,021,498 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Z1177:Chst3
|
UTSW |
10 |
60,022,082 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-02-04 |
Incidental Mutation