Incidental Mutation 'IGL01783:St6gal1'
ID154197
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: 0.090) question?
Stock #IGL01783
Quality Score
Status
Chromosome16
Chromosomal Location23224740-23360350 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23321555 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 159 (T159A)
Ref Sequence ENSEMBL: ENSMUSP00000136206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023601] [ENSMUST00000115335] [ENSMUST00000128050] [ENSMUST00000178797]
Predicted Effect probably benign
Transcript: ENSMUST00000023601
AA Change: T159A

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000023601
Gene: ENSMUSG00000022885
AA Change: T159A

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
AA Change: T159A

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110992
Gene: ENSMUSG00000022885
AA Change: T159A

DomainStartEndE-ValueType
transmembrane domain 9 26 N/A INTRINSIC
Pfam:Glyco_transf_29 140 383 8.3e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152449
Predicted Effect probably benign
Transcript: ENSMUST00000178797
AA Change: T159A

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136206
Gene: ENSMUSG00000022885
AA Change: T159A

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 9,987,900 Y166H possibly damaging Het
Abi3bp G A 16: 56,532,969 probably null Het
Actrt3 T C 3: 30,598,475 T157A probably benign Het
Adam26b T C 8: 43,521,761 K68R probably benign Het
Adgrg7 A G 16: 56,747,919 probably null Het
Ano6 T C 15: 95,962,262 I755T possibly damaging Het
Basp1 T C 15: 25,364,867 N15D unknown Het
Bod1l T C 5: 41,808,712 N2670S probably benign Het
Btbd3 T A 2: 138,283,736 I280N probably damaging Het
Cdh16 T A 8: 104,617,856 Y17F probably damaging Het
Clmp G T 9: 40,782,407 G307W possibly damaging Het
Clrn2 C A 5: 45,460,161 Q125K probably benign Het
Ctnna3 C T 10: 63,820,469 A276V possibly damaging Het
Dram2 A T 3: 106,573,656 T172S possibly damaging Het
Dync2h1 G A 9: 7,118,822 probably benign Het
Ezr T C 17: 6,742,489 probably benign Het
Gbe1 T C 16: 70,401,855 probably null Het
Gbe1 T A 16: 70,478,369 D352E probably damaging Het
Gpr18 T A 14: 121,912,377 M79L probably benign Het
Gss T C 2: 155,571,559 Y196C probably damaging Het
Gtpbp1 T C 15: 79,716,197 S444P probably damaging Het
Hecw1 C T 13: 14,278,293 R712K probably damaging Het
Helz2 T G 2: 181,232,881 D1940A probably damaging Het
Hmcn1 A T 1: 150,615,300 V4166E possibly damaging Het
Klkb1 T C 8: 45,276,391 Y297C probably damaging Het
Krt75 T A 15: 101,564,929 I537F probably benign Het
Lrp1b T A 2: 41,312,572 T1176S probably damaging Het
Nid2 T C 14: 19,768,677 L413P probably benign Het
Olfr1086 A G 2: 86,677,081 V84A probably benign Het
Olfr1122 G T 2: 87,387,838 L44F probably benign Het
Olfr1122 T A 2: 87,387,843 M46K possibly damaging Het
Olfr1206 T C 2: 88,864,842 L79P probably damaging Het
Piwil1 A G 5: 128,743,826 N272D probably benign Het
Ppfia3 T C 7: 45,360,057 probably null Het
Prkg1 A G 19: 30,624,689 V389A probably damaging Het
Sema3a C A 5: 13,561,800 S344R probably damaging Het
Serpina3j T C 12: 104,318,491 L309P probably damaging Het
Slc15a1 A G 14: 121,471,276 probably null Het
Sp8 G T 12: 118,849,024 A205S probably benign Het
Speer4a T A 5: 26,035,047 Q235L possibly damaging Het
Tbrg1 G T 9: 37,654,300 P119T possibly damaging Het
Tmem59l T C 8: 70,487,224 T32A probably damaging Het
Trmt13 G A 3: 116,582,912 R277* probably null Het
Zfp316 A G 5: 143,262,876 F205S unknown Het
Zfp418 G T 7: 7,181,449 W137L possibly damaging Het
Zp3r A T 1: 130,598,866 V200D possibly damaging Het
Other mutations in St6gal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:St6gal1 APN 16 23356392 splice site probably benign
IGL01667:St6gal1 APN 16 23321424 missense probably benign 0.00
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 On2014-02-04