Incidental Mutation 'IGL00426:St6gal1'
ID3991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St6gal1
Ensembl Gene ENSMUSG00000022885
Gene Namebeta galactoside alpha 2,6 sialyltransferase 1
SynonymsSt6Gal-I, Siat1, ST6Gal I
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL00426
Quality Score
Status
Chromosome16
Chromosomal Location23224740-23360350 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 23356392 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023601] [ENSMUST00000115335] [ENSMUST00000178797]
Predicted Effect probably benign
Transcript: ENSMUST00000023601
SMART Domains Protein: ENSMUSP00000023601
Gene: ENSMUSG00000022885

DomainStartEndE-ValueType
transmembrane domain 9 26 N/A INTRINSIC
Pfam:Glyco_transf_29 127 389 2.3e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115335
SMART Domains Protein: ENSMUSP00000110992
Gene: ENSMUSG00000022885

DomainStartEndE-ValueType
transmembrane domain 9 26 N/A INTRINSIC
Pfam:Glyco_transf_29 140 383 8.3e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144919
Predicted Effect probably benign
Transcript: ENSMUST00000178797
SMART Domains Protein: ENSMUSP00000136206
Gene: ENSMUSG00000022885

DomainStartEndE-ValueType
transmembrane domain 9 26 N/A INTRINSIC
Pfam:Glyco_transf_29 127 389 2.3e-63 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous mutation of this gene results in altered terminal glycosylation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik G A 1: 11,748,054 E313K probably damaging Het
Adgrl2 A G 3: 148,865,608 V130A probably damaging Het
Arhgef28 G A 13: 97,988,277 A499V probably benign Het
Ceacam18 C T 7: 43,639,356 T177I probably benign Het
Cspp1 G A 1: 10,112,551 probably benign Het
Cyp2j7 A T 4: 96,227,512 probably benign Het
Cyp2j7 C T 4: 96,227,513 probably null Het
Dip2c T C 13: 9,606,515 F821L probably damaging Het
Gm5538 T A 3: 59,752,121 L332I possibly damaging Het
Lrig3 A T 10: 125,972,137 R85* probably null Het
Mcf2l A G 8: 12,984,910 D106G probably damaging Het
Mdn1 T C 4: 32,719,214 V2259A possibly damaging Het
Mmp16 C T 4: 18,011,784 P233L probably benign Het
Mrpl27 A G 11: 94,659,697 N110S probably benign Het
Myom2 T C 8: 15,069,502 M131T probably benign Het
Myzap T C 9: 71,555,671 T198A probably benign Het
Nek8 T C 11: 78,167,827 Q549R probably damaging Het
Nr1d2 A G 14: 18,215,502 probably benign Het
Nup155 T C 15: 8,156,794 *1347Q probably null Het
Pkd2l1 C T 19: 44,155,605 R343H probably benign Het
Ppfibp2 T A 7: 107,708,805 L215H probably damaging Het
Ralgds T C 2: 28,552,218 L137P probably damaging Het
Rasa2 C T 9: 96,544,860 D752N probably damaging Het
Spg11 T C 2: 122,065,560 K1726E probably damaging Het
Tmem183a A G 1: 134,350,144 L294P probably damaging Het
Trav19 T C 14: 53,845,684 L72P probably damaging Het
Vapa T C 17: 65,593,481 T99A possibly damaging Het
Other mutations in St6gal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01667:St6gal1 APN 16 23321424 missense probably benign 0.00
IGL01783:St6gal1 APN 16 23321555 missense probably benign 0.29
IGL02996:St6gal1 APN 16 23321154 missense probably damaging 0.98
R0049:St6gal1 UTSW 16 23321141 missense probably damaging 1.00
R0049:St6gal1 UTSW 16 23321141 missense probably damaging 1.00
R0295:St6gal1 UTSW 16 23356203 splice site probably benign
R1290:St6gal1 UTSW 16 23321661 missense probably benign 0.03
R1352:St6gal1 UTSW 16 23321651 missense probably damaging 1.00
R1817:St6gal1 UTSW 16 23321333 nonsense probably null
R1911:St6gal1 UTSW 16 23321633 missense probably damaging 0.99
R2113:St6gal1 UTSW 16 23328417 missense probably damaging 0.98
R4591:St6gal1 UTSW 16 23321294 missense probably benign 0.00
R5761:St6gal1 UTSW 16 23321055 utr 5 prime probably benign
R6554:St6gal1 UTSW 16 23321655 missense probably benign 0.00
R6925:St6gal1 UTSW 16 23356213 missense probably damaging 1.00
R7658:St6gal1 UTSW 16 23356228 missense probably damaging 1.00
R7740:St6gal1 UTSW 16 23321035 splice site probably benign
R8017:St6gal1 UTSW 16 23357835 missense probably benign 0.01
R8018:St6gal1 UTSW 16 23357835 missense probably benign 0.01
R8019:St6gal1 UTSW 16 23357835 missense probably benign 0.01
R8044:St6gal1 UTSW 16 23357835 missense probably benign 0.01
R8122:St6gal1 UTSW 16 23354894 missense probably benign 0.00
R8123:St6gal1 UTSW 16 23357835 missense probably benign 0.01
R8124:St6gal1 UTSW 16 23357835 missense probably benign 0.01
Posted On2012-04-20