Incidental Mutation 'RF020:Gal3st1'
ID 603824
Institutional Source Beutler Lab
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
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF020 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 3983636-3999326 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3998153 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 120 (Y120C)
Ref Sequence ENSEMBL: ENSMUSP00000058348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063004] [ENSMUST00000078757] [ENSMUST00000109981]
AlphaFold Q9JHE4
Predicted Effect possibly damaging
Transcript: ENSMUST00000063004
AA Change: Y120C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058348
Gene: ENSMUSG00000049721
AA Change: Y120C

Pfam:Gal-3-0_sulfotr 1 408 1.2e-184 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000078757
AA Change: Y120C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000077815
Gene: ENSMUSG00000049721
AA Change: Y120C

Pfam:Gal-3-0_sulfotr 1 408 1.2e-184 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109981
AA Change: Y120C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105608
Gene: ENSMUSG00000049721
AA Change: Y120C

Pfam:Gal-3-0_sulfotr 1 408 1.2e-184 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,533,657 (GRCm38) K1270E possibly damaging Het
Adgrb2 T C 4: 130,010,084 (GRCm38) S668P probably damaging Het
Ahdc1 T G 4: 133,064,277 (GRCm38) L943R possibly damaging Het
Ank2 T C 3: 126,945,476 (GRCm38) K2253R unknown Het
Arhgap23 T C 11: 97,463,561 (GRCm38) S767P probably damaging Het
Arhgef12 A G 9: 42,989,989 (GRCm38) I839T possibly damaging Het
Begain CGCCGC CGCCGCGGCCGC 12: 109,033,424 (GRCm38) probably benign Het
Btbd19 A T 4: 117,122,275 (GRCm38) C116S probably damaging Het
Cbr1 C T 16: 93,610,179 (GRCm38) A261V probably benign Het
Ccdc137 A G 11: 120,458,196 (GRCm38) R18G probably benign Het
Cdsn AG AGACAGGAAGTAGTAGCTCTCAG 17: 35,554,979 (GRCm38) probably benign Het
Celsr3 C T 9: 108,849,057 (GRCm38) R3162C probably benign Het
Cep350 A T 1: 155,915,478 (GRCm38) V1300E probably benign Het
Cluh G GCCAGAT 11: 74,669,538 (GRCm38) probably benign Het
Cmya5 G T 13: 93,069,291 (GRCm38) Q3357K possibly damaging Het
Col6a2 T G 10: 76,606,209 (GRCm38) probably null Het
Cyp2j9 T A 4: 96,577,652 (GRCm38) T315S probably damaging Het
Cyp3a13 CATTATT CATT 5: 137,894,263 (GRCm38) probably null Het
Dnah6 T A 6: 73,118,057 (GRCm38) Y2181F probably benign Het
Dnah7b A G 1: 46,373,261 (GRCm38) D4010G possibly damaging Het
E4f1 CCG CCGACG 17: 24,455,195 (GRCm38) probably benign Het
Ep300 A T 15: 81,586,571 (GRCm38) probably benign Het
Fam234a A G 17: 26,218,751 (GRCm38) V90A probably benign Het
Gab3 TCT TCTGCT X: 75,000,017 (GRCm38) probably benign Het
Gm5475 GTGGAAGGAAAGGT G 15: 100,427,149 (GRCm38) probably null Het
Gm6665 T TC 18: 31,820,377 (GRCm38) probably null Het
Hdlbp T C 1: 93,440,734 (GRCm38) T8A probably benign Het
Hnrnpa2b1 T A 6: 51,466,694 (GRCm38) K92N probably damaging Het
Klhl10 C G 11: 100,442,070 (GRCm38) Q14E probably benign Het
Klra2 GAAAGAAATCCA GAAAGAAATCCAAAGAAATCCA 6: 131,221,838 (GRCm38) probably null Het
Kmt2b CC CCTCCTGC 7: 30,586,382 (GRCm38) probably benign Het
Krt2 A G 15: 101,817,968 (GRCm38) I45T unknown Het
Ksr2 T C 5: 117,555,218 (GRCm38) S244P probably benign Het
Lama5 A T 2: 180,196,178 (GRCm38) M915K probably benign Het
Lrp1b A C 2: 41,770,846 (GRCm38) H197Q Het
Lrrc1 T C 9: 77,452,631 (GRCm38) E293G probably damaging Het
Med12l AACA AACAACA 3: 59,275,958 (GRCm38) probably benign Het
Mgam T A 6: 40,685,309 (GRCm38) Y1179N probably damaging Het
Mgat4c A G 10: 102,389,067 (GRCm38) I381V probably benign Het
Mrgprx1 A AGAC 7: 48,021,511 (GRCm38) probably benign Het
Myc A T 15: 61,985,823 (GRCm38) probably benign Het
Nipbl A G 15: 8,358,934 (GRCm38) S401P probably damaging Het
Nlrp9c A T 7: 26,385,224 (GRCm38) I310N probably benign Het
Nwd2 C A 5: 63,805,723 (GRCm38) Y883* probably null Het
Oas1e T A 5: 120,794,318 (GRCm38) T87S possibly damaging Het
Olfr586 A T 7: 103,121,891 (GRCm38) C294S probably benign Het
Olfr653 A G 7: 104,580,290 (GRCm38) M215V probably benign Het
Olfr885 G A 9: 38,061,324 (GRCm38) M1I probably null Het
Olfr964-ps1 GA GATACA 9: 39,686,753 (GRCm38) probably null Het
Pappa T G 4: 65,205,045 (GRCm38) S872R possibly damaging Het
Parp4 T C 14: 56,647,349 (GRCm38) L1295P unknown Het
Pcdh15 A T 10: 74,185,410 (GRCm38) Y152F probably damaging Het
Pdk1 A T 2: 71,883,896 (GRCm38) I217L possibly damaging Het
Phldb1 A C 9: 44,697,946 (GRCm38) C450W probably damaging Het
Pnmal1 C CCATGATGCACCTGCTTCAACATCA 7: 16,961,451 (GRCm38) probably benign Het
Prl2c5 G A 13: 13,185,912 (GRCm38) G55S probably benign Het
Psme2b A T 11: 48,945,570 (GRCm38) H183Q probably damaging Het
Ptms CCTCCTC CCTCCTCCTC 6: 124,914,449 (GRCm38) probably benign Het
Rln3 T C 8: 84,043,302 (GRCm38) T73A probably benign Het
Rprd1a T A 18: 24,530,005 (GRCm38) Q21L probably damaging Het
Sept3 A T 15: 82,284,461 (GRCm38) D155V probably damaging Het
Sh3rf3 T A 10: 58,813,768 (GRCm38) V65E probably damaging Het
Shank3 A G 15: 89,500,390 (GRCm38) N155S probably benign Het
Shox2 G T 3: 66,973,813 (GRCm38) P278Q probably damaging Het
Slc1a1 T C 19: 28,879,155 (GRCm38) probably null Het
Slc39a10 A T 1: 46,810,015 (GRCm38) F814I probably damaging Het
Slc5a1 T C 5: 33,133,429 (GRCm38) I119T probably damaging Het
Slc6a13 T C 6: 121,324,351 (GRCm38) probably null Het
Spta1 T A 1: 174,217,903 (GRCm38) F1542L probably damaging Het
Spta1 A G 1: 174,213,444 (GRCm38) D1270G probably benign Het
Tacc3 T A 5: 33,661,224 (GRCm38) M1K probably null Het
Tax1bp1 T C 6: 52,721,354 (GRCm38) V17A probably damaging Het
Tmem156 T A 5: 65,091,547 (GRCm38) E3D probably benign Het
Tmem209 T A 6: 30,487,418 (GRCm38) M530L probably benign Het
Trpc2 A G 7: 102,096,226 (GRCm38) D883G unknown Het
Tsen34 GGAGCCAAAAT G 7: 3,695,796 (GRCm38) probably null Het
Uhrf2 T C 19: 30,086,391 (GRCm38) Y585H probably damaging Het
Vmn1r26 T A 6: 58,008,720 (GRCm38) K161N probably benign Het
Vmn1r29 A G 6: 58,307,543 (GRCm38) S83G probably benign Het
Vps13b G T 15: 35,925,406 (GRCm38) W3829L probably null Het
Vwce G A 19: 10,653,085 (GRCm38) G503R probably damaging Het
Zc3h11a T C 1: 133,626,997 (GRCm38) E415G possibly damaging Het
Zc3h14 T A 12: 98,780,282 (GRCm38) probably null Het
Zfp119b A T 17: 55,939,499 (GRCm38) M229K probably benign Het
Zfp384 GGCCCAGGC GGCCCAGGCCCACGCCCAGGC 6: 125,036,488 (GRCm38) probably benign Het
Zfp384 CCAAGCTCAAGC CCAAGC 6: 125,036,455 (GRCm38) probably benign Het
Zyx T A 6: 42,357,396 (GRCm38) L518Q probably damaging Het
Other mutations in Gal3st1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Gal3st1 APN 11 3,999,070 (GRCm38) utr 3 prime probably benign
IGL01010:Gal3st1 APN 11 3,996,914 (GRCm38) utr 5 prime probably benign
IGL01079:Gal3st1 APN 11 3,998,564 (GRCm38) missense probably damaging 1.00
IGL01306:Gal3st1 APN 11 3,998,405 (GRCm38) missense probably damaging 1.00
IGL01614:Gal3st1 APN 11 3,998,996 (GRCm38) missense probably damaging 1.00
IGL01990:Gal3st1 APN 11 3,998,741 (GRCm38) missense probably damaging 1.00
IGL02439:Gal3st1 APN 11 3,998,110 (GRCm38) missense possibly damaging 0.95
R0306:Gal3st1 UTSW 11 3,998,546 (GRCm38) missense probably damaging 1.00
R1075:Gal3st1 UTSW 11 3,998,509 (GRCm38) missense possibly damaging 0.80
R1171:Gal3st1 UTSW 11 3,998,931 (GRCm38) missense probably damaging 1.00
R1874:Gal3st1 UTSW 11 3,998,231 (GRCm38) missense probably damaging 1.00
R2230:Gal3st1 UTSW 11 3,998,282 (GRCm38) missense probably benign 0.31
R2231:Gal3st1 UTSW 11 3,998,282 (GRCm38) missense probably benign 0.31
R2232:Gal3st1 UTSW 11 3,998,282 (GRCm38) missense probably benign 0.31
R2985:Gal3st1 UTSW 11 3,998,618 (GRCm38) missense probably damaging 1.00
R3552:Gal3st1 UTSW 11 3,998,110 (GRCm38) missense possibly damaging 0.90
R6737:Gal3st1 UTSW 11 3,998,903 (GRCm38) missense probably benign 0.00
R7027:Gal3st1 UTSW 11 3,999,002 (GRCm38) missense probably damaging 0.96
R7106:Gal3st1 UTSW 11 3,998,509 (GRCm38) missense probably damaging 1.00
R7288:Gal3st1 UTSW 11 3,998,651 (GRCm38) missense probably damaging 0.98
R7288:Gal3st1 UTSW 11 3,998,609 (GRCm38) missense probably damaging 1.00
R7290:Gal3st1 UTSW 11 3,998,093 (GRCm38) missense possibly damaging 0.70
R7438:Gal3st1 UTSW 11 3,998,227 (GRCm38) missense probably benign 0.00
R7934:Gal3st1 UTSW 11 3,998,405 (GRCm38) missense probably damaging 1.00
R9046:Gal3st1 UTSW 11 3,998,278 (GRCm38) missense probably benign 0.05
R9475:Gal3st1 UTSW 11 3,998,660 (GRCm38) missense probably damaging 1.00
Z1088:Gal3st1 UTSW 11 3,997,984 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-12-04