Incidental Mutation 'IGL02742:St6galnac4'
ID305930
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St6galnac4
Ensembl Gene ENSMUSG00000079442
Gene NameST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
SynonymsSiat7d, ST6GalNAc IV
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02742
Quality Score
Status
Chromosome2
Chromosomal Location32587095-32599698 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 32597084 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 264 (R264C)
Ref Sequence ENSEMBL: ENSMUSP00000136093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102818] [ENSMUST00000131229] [ENSMUST00000140983] [ENSMUST00000179989]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102818
AA Change: R264C

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099882
Gene: ENSMUSG00000079442
AA Change: R264C

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 48 296 4.5e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123080
Predicted Effect probably benign
Transcript: ENSMUST00000131229
SMART Domains Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 35 176 3.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140983
SMART Domains Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 21 229 7.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175406
Predicted Effect possibly damaging
Transcript: ENSMUST00000179989
AA Change: R264C

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136093
Gene: ENSMUSG00000079442
AA Change: R264C

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 46 296 1.7e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192934
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,095,625 T506A probably damaging Het
AI314180 A G 4: 58,840,757 V667A probably damaging Het
Ankib1 A C 5: 3,693,479 D845E probably benign Het
Atxn2 T C 5: 121,781,336 V369A possibly damaging Het
Ccdc50 T A 16: 27,406,784 probably benign Het
Clec2g A G 6: 128,980,261 I61V possibly damaging Het
Col16a1 G A 4: 130,061,379 probably benign Het
Dapk2 A G 9: 66,231,814 Y139C probably damaging Het
Fnip1 T C 11: 54,493,351 L334P probably damaging Het
Igf1r A G 7: 68,189,991 E682G possibly damaging Het
Ints8 T C 4: 11,241,627 E272G possibly damaging Het
Jph2 G A 2: 163,375,779 P326S probably damaging Het
Krtap1-4 T C 11: 99,583,114 probably benign Het
Lrp5 A G 19: 3,604,022 I1135T probably damaging Het
Lrrk1 A G 7: 66,308,691 V320A probably benign Het
Myh6 A C 14: 54,953,924 I820S possibly damaging Het
Napg A T 18: 62,986,248 T110S probably damaging Het
Nova1 G A 12: 46,720,692 Q56* probably null Het
Phyhip A G 14: 70,461,927 probably null Het
Pkd2l2 C A 18: 34,416,917 S205* probably null Het
Ppp2r1a G T 17: 20,959,003 C101F probably benign Het
Serpinb3c G A 1: 107,273,142 R182* probably null Het
St18 A C 1: 6,802,316 probably benign Het
Tmem168 T C 6: 13,603,262 Y35C probably benign Het
Tmem219 A G 7: 126,897,048 L74P probably damaging Het
Trpc4 T A 3: 54,299,246 N622K probably damaging Het
Trpm6 A C 19: 18,830,012 probably benign Het
Ttl C A 2: 129,066,293 F49L possibly damaging Het
Vmn1r123 A T 7: 21,163,043 I287F possibly damaging Het
Vmn2r97 T G 17: 18,929,170 I273M probably damaging Het
Wdr5 C A 2: 27,520,425 probably benign Het
Zcchc6 C T 13: 59,816,342 D250N probably damaging Het
Zfp37 C A 4: 62,192,311 C172F possibly damaging Het
Other mutations in St6galnac4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:St6galnac4 APN 2 32594086 missense probably damaging 1.00
IGL02615:St6galnac4 APN 2 32594204 missense probably benign 0.33
paxinterra UTSW 2 32594099 missense probably damaging 1.00
warcraft UTSW 2 32594063 missense probably damaging 1.00
R0454:St6galnac4 UTSW 2 32594318 missense probably damaging 1.00
R0550:St6galnac4 UTSW 2 32594019 nonsense probably null
R0647:St6galnac4 UTSW 2 32589448 missense probably damaging 0.96
R3419:St6galnac4 UTSW 2 32595731 missense probably damaging 1.00
R4682:St6galnac4 UTSW 2 32594099 missense probably damaging 1.00
R4700:St6galnac4 UTSW 2 32587160 unclassified probably benign
R4995:St6galnac4 UTSW 2 32594063 missense probably damaging 1.00
R6538:St6galnac4 UTSW 2 32597078 missense possibly damaging 0.47
R8273:St6galnac4 UTSW 2 32587655 start gained probably benign
R8391:St6galnac4 UTSW 2 32594074 missense probably damaging 1.00
R8887:St6galnac4 UTSW 2 32594098 missense probably damaging 1.00
Posted On2015-04-16