Incidental Mutation 'IGL02439:Gal3st1'
ID 293397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gal3st1
Ensembl Gene ENSMUSG00000049721
Gene Name galactose-3-O-sulfotransferase 1
Synonyms GalCer sulfotransferase, Gcst, Cst, galactosylceramide sulfotransferase, 3'-phosphoadenylylsulfate-galactosylceramide 3'-sulfotransferase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02439
Quality Score
Status
Chromosome 11
Chromosomal Location 3983636-3999326 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3998110 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 106 (F106L)
Ref Sequence ENSEMBL: ENSMUSP00000105608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063004] [ENSMUST00000078757] [ENSMUST00000109981]
AlphaFold Q9JHE4
Predicted Effect possibly damaging
Transcript: ENSMUST00000063004
AA Change: F106L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058348
Gene: ENSMUSG00000049721
AA Change: F106L

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 1 408 1.2e-184 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000078757
AA Change: F106L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077815
Gene: ENSMUSG00000049721
AA Change: F106L

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 1 408 1.2e-184 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109981
AA Change: F106L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105608
Gene: ENSMUSG00000049721
AA Change: F106L

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik A T 14: 4,348,890 Y17F probably benign Het
Ablim2 A C 5: 35,857,862 T507P possibly damaging Het
Arhgef28 T C 13: 97,931,139 Y1426C possibly damaging Het
Armc4 T A 18: 7,268,444 R358S probably benign Het
Cftr T A 6: 18,258,238 Y592* probably null Het
Eogt C T 6: 97,143,973 G93D possibly damaging Het
Exosc9 A G 3: 36,553,031 probably benign Het
Frem1 T C 4: 82,956,345 I1329V probably benign Het
Gulp1 A T 1: 44,781,004 I216F probably damaging Het
Ints13 A T 6: 146,554,223 probably benign Het
Kars G A 8: 111,997,636 T453I probably benign Het
Kif14 A G 1: 136,490,261 D844G probably damaging Het
Lgals3bp A T 11: 118,398,220 C93S probably damaging Het
Lst1 T C 17: 35,186,982 I32V probably benign Het
Malsu1 T A 6: 49,075,187 Y114N probably damaging Het
Ndufa5 A T 6: 24,519,202 V41E probably damaging Het
Nme6 C A 9: 109,841,931 P80T probably damaging Het
Olfr202 A G 16: 59,284,455 L14P probably damaging Het
Padi4 T C 4: 140,746,221 D635G probably damaging Het
Pcf11 C T 7: 92,661,841 S313N possibly damaging Het
Pdik1l T C 4: 134,278,704 H309R probably benign Het
Pdk2 A T 11: 95,039,497 probably benign Het
Pprc1 A G 19: 46,072,319 S1606G possibly damaging Het
Ptch1 A G 13: 63,545,096 I230T probably damaging Het
Scn10a C T 9: 119,618,848 R1381Q probably benign Het
Sestd1 T C 2: 77,196,830 K479E possibly damaging Het
Sez6l2 C T 7: 126,968,189 S892L probably damaging Het
Slc39a9 G T 12: 80,666,576 A83S probably benign Het
Slc6a6 A G 6: 91,749,827 Y483C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tas2r131 A G 6: 132,957,769 S26P probably damaging Het
Timd2 A G 11: 46,678,236 probably benign Het
Tmem126a T C 7: 90,455,433 E27G probably damaging Het
Tns2 G A 15: 102,114,543 G1256E probably damaging Het
Trpv6 T A 6: 41,625,487 I322F probably damaging Het
Tshr G A 12: 91,537,547 V420M probably damaging Het
Ttn C A 2: 76,766,087 A20161S probably damaging Het
Vmn2r66 A T 7: 85,005,247 probably benign Het
Zfp438 T A 18: 5,213,216 S581C probably damaging Het
Other mutations in Gal3st1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Gal3st1 APN 11 3999070 utr 3 prime probably benign
IGL01010:Gal3st1 APN 11 3996914 utr 5 prime probably benign
IGL01079:Gal3st1 APN 11 3998564 missense probably damaging 1.00
IGL01306:Gal3st1 APN 11 3998405 missense probably damaging 1.00
IGL01614:Gal3st1 APN 11 3998996 missense probably damaging 1.00
IGL01990:Gal3st1 APN 11 3998741 missense probably damaging 1.00
R0306:Gal3st1 UTSW 11 3998546 missense probably damaging 1.00
R1075:Gal3st1 UTSW 11 3998509 missense possibly damaging 0.80
R1171:Gal3st1 UTSW 11 3998931 missense probably damaging 1.00
R1874:Gal3st1 UTSW 11 3998231 missense probably damaging 1.00
R2230:Gal3st1 UTSW 11 3998282 missense probably benign 0.31
R2231:Gal3st1 UTSW 11 3998282 missense probably benign 0.31
R2232:Gal3st1 UTSW 11 3998282 missense probably benign 0.31
R2985:Gal3st1 UTSW 11 3998618 missense probably damaging 1.00
R3552:Gal3st1 UTSW 11 3998110 missense possibly damaging 0.90
R6737:Gal3st1 UTSW 11 3998903 missense probably benign 0.00
R7027:Gal3st1 UTSW 11 3999002 missense probably damaging 0.96
R7106:Gal3st1 UTSW 11 3998509 missense probably damaging 1.00
R7288:Gal3st1 UTSW 11 3998609 missense probably damaging 1.00
R7288:Gal3st1 UTSW 11 3998651 missense probably damaging 0.98
R7290:Gal3st1 UTSW 11 3998093 missense possibly damaging 0.70
R7438:Gal3st1 UTSW 11 3998227 missense probably benign 0.00
R7934:Gal3st1 UTSW 11 3998405 missense probably damaging 1.00
R9046:Gal3st1 UTSW 11 3998278 missense probably benign 0.05
R9475:Gal3st1 UTSW 11 3998660 missense probably damaging 1.00
RF020:Gal3st1 UTSW 11 3998153 missense possibly damaging 0.75
Z1088:Gal3st1 UTSW 11 3997984 missense probably benign 0.00
Posted On 2015-04-16