Incidental Mutation 'IGL02996:St6gal1'
ID 407133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St6gal1
Ensembl Gene ENSMUSG00000022885
Gene Name beta galactoside alpha 2,6 sialyltransferase 1
Synonyms Siat1, ST6Gal I, St6Gal-I
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL02996
Quality Score
Status
Chromosome 16
Chromosomal Location 23043490-23179100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23139904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 25 (V25E)
Ref Sequence ENSEMBL: ENSMUSP00000121865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023601] [ENSMUST00000115335] [ENSMUST00000128050] [ENSMUST00000178797]
AlphaFold Q64685
Predicted Effect probably damaging
Transcript: ENSMUST00000023601
AA Change: V25E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023601
Gene: ENSMUSG00000022885
AA Change: V25E

DomainStartEndE-ValueType
transmembrane domain 9 26 N/A INTRINSIC
Pfam:Glyco_transf_29 127 389 2.3e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115335
AA Change: V25E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110992
Gene: ENSMUSG00000022885
AA Change: V25E

DomainStartEndE-ValueType
transmembrane domain 9 26 N/A INTRINSIC
Pfam:Glyco_transf_29 140 383 8.3e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128050
AA Change: V25E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152449
Predicted Effect probably damaging
Transcript: ENSMUST00000178797
AA Change: V25E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136206
Gene: ENSMUSG00000022885
AA Change: V25E

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B4galnt1 C T 10: 127,002,872 (GRCm39) R130W probably damaging Het
Cd200r3 T C 16: 44,774,680 (GRCm39) L231P probably damaging Het
Cd200r4 C A 16: 44,653,396 (GRCm39) N55K probably benign Het
Cyb561d1 C T 3: 108,106,961 (GRCm39) R86Q probably damaging Het
Dst T C 1: 34,227,479 (GRCm39) S1869P possibly damaging Het
Dusp6 T C 10: 99,100,628 (GRCm39) V208A possibly damaging Het
Dync2h1 A T 9: 6,935,279 (GRCm39) V4248E probably damaging Het
Exoc6b T A 6: 84,885,195 (GRCm39) D248V probably benign Het
Fat4 A C 3: 39,012,674 (GRCm39) D2323A probably damaging Het
Fbxo6 T C 4: 148,231,348 (GRCm39) Y144C probably damaging Het
Gm7334 C A 17: 51,006,084 (GRCm39) N123K possibly damaging Het
Large2 T C 2: 92,196,273 (GRCm39) H518R possibly damaging Het
Marchf4 G A 1: 72,468,058 (GRCm39) Q325* probably null Het
Mccc2 C A 13: 100,097,487 (GRCm39) probably benign Het
Mical3 T C 6: 120,935,519 (GRCm39) D1669G probably damaging Het
Mkrn2 T C 6: 115,588,868 (GRCm39) F204L probably benign Het
Or1p1 T C 11: 74,179,991 (GRCm39) V173A probably benign Het
Or8g26 A G 9: 39,096,361 (GRCm39) R293G probably damaging Het
Pkn3 A G 2: 29,970,627 (GRCm39) D148G probably benign Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Rwdd1 G T 10: 33,878,512 (GRCm39) Q108K probably damaging Het
Senp3 T C 11: 69,565,086 (GRCm39) E496G probably damaging Het
Syt4 T C 18: 31,577,199 (GRCm39) K52E probably damaging Het
Tap1 C A 17: 34,410,370 (GRCm39) A349E probably damaging Het
Tfr2 T A 5: 137,581,728 (GRCm39) M605K probably benign Het
Tmem192 A G 8: 65,421,442 (GRCm39) probably null Het
Trf T C 9: 103,098,102 (GRCm39) E52G probably benign Het
Ttn A G 2: 76,556,531 (GRCm39) V30158A probably damaging Het
Unc5a A G 13: 55,143,991 (GRCm39) E152G probably damaging Het
Vmn2r57 T A 7: 41,049,165 (GRCm39) K861N probably benign Het
Other mutations in St6gal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:St6gal1 APN 16 23,175,142 (GRCm39) splice site probably benign
IGL01667:St6gal1 APN 16 23,140,174 (GRCm39) missense probably benign 0.00
IGL01783:St6gal1 APN 16 23,140,305 (GRCm39) missense probably benign 0.29
R0049:St6gal1 UTSW 16 23,139,891 (GRCm39) missense probably damaging 1.00
R0049:St6gal1 UTSW 16 23,139,891 (GRCm39) missense probably damaging 1.00
R0295:St6gal1 UTSW 16 23,174,953 (GRCm39) splice site probably benign
R1290:St6gal1 UTSW 16 23,140,411 (GRCm39) missense probably benign 0.03
R1352:St6gal1 UTSW 16 23,140,401 (GRCm39) missense probably damaging 1.00
R1817:St6gal1 UTSW 16 23,140,083 (GRCm39) nonsense probably null
R1911:St6gal1 UTSW 16 23,140,383 (GRCm39) missense probably damaging 0.99
R2113:St6gal1 UTSW 16 23,147,167 (GRCm39) missense probably damaging 0.98
R4591:St6gal1 UTSW 16 23,140,044 (GRCm39) missense probably benign 0.00
R5761:St6gal1 UTSW 16 23,139,805 (GRCm39) utr 5 prime probably benign
R6554:St6gal1 UTSW 16 23,140,405 (GRCm39) missense probably benign 0.00
R6925:St6gal1 UTSW 16 23,174,963 (GRCm39) missense probably damaging 1.00
R7658:St6gal1 UTSW 16 23,174,978 (GRCm39) missense probably damaging 1.00
R7740:St6gal1 UTSW 16 23,139,785 (GRCm39) splice site probably benign
R7967:St6gal1 UTSW 16 23,176,585 (GRCm39) missense probably benign 0.01
R7970:St6gal1 UTSW 16 23,176,585 (GRCm39) missense probably benign 0.01
R7973:St6gal1 UTSW 16 23,176,585 (GRCm39) missense probably benign 0.01
R8017:St6gal1 UTSW 16 23,176,585 (GRCm39) missense probably benign 0.01
R8017:St6gal1 UTSW 16 23,176,585 (GRCm39) missense probably benign 0.01
R8018:St6gal1 UTSW 16 23,176,585 (GRCm39) missense probably benign 0.01
R8019:St6gal1 UTSW 16 23,176,585 (GRCm39) missense probably benign 0.01
R8044:St6gal1 UTSW 16 23,176,585 (GRCm39) missense probably benign 0.01
R8122:St6gal1 UTSW 16 23,173,644 (GRCm39) missense probably benign 0.00
R8123:St6gal1 UTSW 16 23,176,585 (GRCm39) missense probably benign 0.01
R8124:St6gal1 UTSW 16 23,176,585 (GRCm39) missense probably benign 0.01
R9265:St6gal1 UTSW 16 23,140,168 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02