Incidental Mutation 'IGL01079:Gal3st1'
ID 52240
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) question?
Stock # IGL01079
Quality Score
Status
Chromosome 11
Chromosomal Location 3933636-3949326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3948564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 257 (E257G)
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: E257G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058348
Gene: ENSMUSG00000049721
AA Change: E257G

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 1 408 1.2e-184 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000078757
AA Change: E257G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077815
Gene: ENSMUSG00000049721
AA Change: E257G

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 1 408 1.2e-184 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109981
AA Change: E257G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105608
Gene: ENSMUSG00000049721
AA Change: E257G

DomainStartEndE-ValueType
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d1 T A 5: 16,575,646 (GRCm39) S1079T probably benign Het
Cstb T C 10: 78,262,779 (GRCm39) S29P probably benign Het
Eif1ad13 A T 12: 87,762,578 (GRCm39) E99D possibly damaging Het
F8 T A X: 74,330,224 (GRCm39) D1222V probably damaging Het
Fcgbpl1 A T 7: 27,839,203 (GRCm39) S339C probably damaging Het
Gm5424 T C 10: 61,907,863 (GRCm39) noncoding transcript Het
Ikbke A T 1: 131,193,384 (GRCm39) D515E possibly damaging Het
Irag1 C T 7: 110,545,174 (GRCm39) A41T possibly damaging Het
Or51b6 A G 7: 103,555,669 (GRCm39) I5V probably benign Het
Or5d43 A C 2: 88,105,060 (GRCm39) F111C probably damaging Het
Or6c209 T G 10: 129,483,243 (GRCm39) L82R possibly damaging Het
Plekhg3 A T 12: 76,609,052 (GRCm39) I142L possibly damaging Het
Tet1 G A 10: 62,715,252 (GRCm39) T181I probably damaging Het
Tfcp2l1 T C 1: 118,580,612 (GRCm39) V102A possibly damaging Het
Other mutations in Gal3st1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
IGL01990:Gal3st1 APN 11 3,948,741 (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 2013-06-21