Incidental Mutation 'IGL01990:Gal3st1'
| ID |
182039 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gal3st1
|
| Ensembl Gene |
ENSMUSG00000049721 |
| Gene Name |
galactose-3-O-sulfotransferase 1 |
| Synonyms |
galactosylceramide sulfotransferase, Gcst, Cst, 3'-phosphoadenylylsulfate-galactosylceramide 3'-sulfotransferase, GalCer sulfotransferase |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01990
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
3933636-3949326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 3948741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 316
(W316L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063004]
[ENSMUST00000078757]
[ENSMUST00000109981]
|
| AlphaFold |
Q9JHE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063004
AA Change: W316L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058348
Gene: ENSMUSG00000049721
AA Change: W316L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
1 |
408 |
1.2e-184 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078757
AA Change: W316L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077815
Gene: ENSMUSG00000049721
AA Change: W316L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
1 |
408 |
1.2e-184 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109981
AA Change: W316L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105608
Gene: ENSMUSG00000049721
AA Change: W316L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
1 |
408 |
1.2e-184 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121403
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hindlimb weakness and progressive ataxia beginning at six weeks of age. Homozygous males exhibit sterility with a block in spermatogenesis prior to the first meiotic division. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
G |
17: 33,653,068 (GRCm39) |
N376S |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,115 (GRCm39) |
D1565G |
probably damaging |
Het |
| Atf5 |
T |
G |
7: 44,462,473 (GRCm39) |
D217A |
probably damaging |
Het |
| Azgp1 |
T |
C |
5: 137,987,997 (GRCm39) |
W260R |
probably damaging |
Het |
| Cnr2 |
C |
T |
4: 135,644,116 (GRCm39) |
R65C |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,226,859 (GRCm39) |
Y203C |
unknown |
Het |
| Colec11 |
A |
G |
12: 28,644,985 (GRCm39) |
Y170H |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,650,867 (GRCm39) |
Q471R |
possibly damaging |
Het |
| Igfbp3 |
C |
A |
11: 7,158,504 (GRCm39) |
R253L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,383,178 (GRCm39) |
D168V |
probably benign |
Het |
| Khnyn |
T |
G |
14: 56,125,045 (GRCm39) |
I433S |
possibly damaging |
Het |
| Naaa |
T |
A |
5: 92,415,922 (GRCm39) |
T193S |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,418,416 (GRCm39) |
D49N |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,074,924 (GRCm39) |
|
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,633,107 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,387,438 (GRCm39) |
T1794I |
probably damaging |
Het |
| Prex2 |
A |
C |
1: 11,193,457 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
T |
G |
4: 150,239,141 (GRCm39) |
I122S |
possibly damaging |
Het |
| Slc31a2 |
A |
G |
4: 62,214,207 (GRCm39) |
K53E |
probably benign |
Het |
| Slc35f4 |
C |
T |
14: 49,541,626 (GRCm39) |
|
probably null |
Het |
| Slc38a7 |
C |
T |
8: 96,571,590 (GRCm39) |
W213* |
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,896,188 (GRCm39) |
E589G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,101,707 (GRCm39) |
N5407S |
probably damaging |
Het |
| Tgm2 |
A |
T |
2: 157,966,051 (GRCm39) |
D534E |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,324 (GRCm39) |
Y161C |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,529,355 (GRCm39) |
M249T |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,203 (GRCm39) |
I240V |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,096,666 (GRCm39) |
L49P |
probably damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,311,047 (GRCm39) |
P549H |
probably damaging |
Het |
| Zfp551 |
C |
T |
7: 12,156,343 (GRCm39) |
V25M |
possibly damaging |
Het |
|
| Other mutations in Gal3st1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Gal3st1
|
APN |
11 |
3,949,070 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01010:Gal3st1
|
APN |
11 |
3,946,914 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01079:Gal3st1
|
APN |
11 |
3,948,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01306:Gal3st1
|
APN |
11 |
3,948,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01614:Gal3st1
|
APN |
11 |
3,948,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02439:Gal3st1
|
APN |
11 |
3,948,110 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0306:Gal3st1
|
UTSW |
11 |
3,948,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1075:Gal3st1
|
UTSW |
11 |
3,948,509 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1171:Gal3st1
|
UTSW |
11 |
3,948,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Gal3st1
|
UTSW |
11 |
3,948,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2230:Gal3st1
|
UTSW |
11 |
3,948,282 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2231:Gal3st1
|
UTSW |
11 |
3,948,282 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2232:Gal3st1
|
UTSW |
11 |
3,948,282 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2985:Gal3st1
|
UTSW |
11 |
3,948,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3552:Gal3st1
|
UTSW |
11 |
3,948,110 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6737:Gal3st1
|
UTSW |
11 |
3,948,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7027:Gal3st1
|
UTSW |
11 |
3,949,002 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7106:Gal3st1
|
UTSW |
11 |
3,948,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7288:Gal3st1
|
UTSW |
11 |
3,948,651 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7288:Gal3st1
|
UTSW |
11 |
3,948,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Gal3st1
|
UTSW |
11 |
3,948,093 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7438:Gal3st1
|
UTSW |
11 |
3,948,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7934:Gal3st1
|
UTSW |
11 |
3,948,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Gal3st1
|
UTSW |
11 |
3,948,278 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9475:Gal3st1
|
UTSW |
11 |
3,948,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Gal3st1
|
UTSW |
11 |
3,948,153 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1088:Gal3st1
|
UTSW |
11 |
3,947,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation