Incidental Mutation 'R8391:St6galnac4'
ID 647357
Institutional Source Beutler Lab
Gene Symbol St6galnac4
Ensembl Gene ENSMUSG00000079442
Gene Name ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
Synonyms Siat7d, ST6GalNAc IV
MMRRC Submission 067756-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8391 (G1)
Quality Score 209.009
Status Not validated
Chromosome 2
Chromosomal Location 32477107-32489710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32484086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 95 (D95Y)
Ref Sequence ENSEMBL: ENSMUSP00000099882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102818] [ENSMUST00000179989]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000102818
AA Change: D95Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099882
Gene: ENSMUSG00000079442
AA Change: D95Y

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 48 296 4.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146557
Predicted Effect probably damaging
Transcript: ENSMUST00000179989
AA Change: D95Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136093
Gene: ENSMUSG00000079442
AA Change: D95Y

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 46 296 1.7e-39 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,368,968 (GRCm39) S155P possibly damaging Het
Akr1c21 C T 13: 4,626,278 (GRCm39) R101W probably damaging Het
Angpt1 T A 15: 42,375,794 (GRCm39) N154I probably damaging Het
Aoc1l2 T C 6: 48,909,602 (GRCm39) W616R probably damaging Het
Atp2a1 T A 7: 126,047,888 (GRCm39) I641F possibly damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Bltp3b T C 10: 89,645,605 (GRCm39) V1226A possibly damaging Het
Cacna1b G A 2: 24,596,212 (GRCm39) A493V probably damaging Het
Cacna1h G A 17: 25,596,204 (GRCm39) A1939V probably benign Het
Cacna2d4 A G 6: 119,325,706 (GRCm39) I1027V probably benign Het
Cbln3 G A 14: 56,120,523 (GRCm39) R170C probably damaging Het
Cemip T C 7: 83,604,517 (GRCm39) S842G probably damaging Het
Cep164 T A 9: 45,718,491 (GRCm39) Q284L unknown Het
Crybg2 T C 4: 133,803,035 (GRCm39) F889L probably damaging Het
Fhip1a T C 3: 85,595,788 (GRCm39) N366D probably damaging Het
Gars1 T A 6: 55,025,127 (GRCm39) Y124N probably damaging Het
Gbp2b T C 3: 142,309,894 (GRCm39) F228S probably damaging Het
Gm5565 C A 5: 146,096,962 (GRCm39) R59L probably benign Het
Gm8947 A T 1: 151,068,737 (GRCm39) D190V probably benign Het
Grid2ip T C 5: 143,365,951 (GRCm39) M543T probably damaging Het
Gucy2c A G 6: 136,681,213 (GRCm39) L957P probably damaging Het
Hint1 T C 11: 54,757,368 (GRCm39) I18T possibly damaging Het
Il23r T C 6: 67,429,374 (GRCm39) S323G probably benign Het
Iqcf3 T G 9: 106,438,175 (GRCm39) E16A unknown Het
Kcnj1 A T 9: 32,308,028 (GRCm39) T151S probably damaging Het
Kdm1a G T 4: 136,281,154 (GRCm39) T685K probably benign Het
Lipo4 T A 19: 33,488,965 (GRCm39) H206L probably benign Het
Lrp5 A G 19: 3,654,185 (GRCm39) Y1081H probably damaging Het
Masp1 A T 16: 23,289,128 (GRCm39) H557Q possibly damaging Het
Nhsl1 C T 10: 18,400,691 (GRCm39) T605I possibly damaging Het
Or1af1 T A 2: 37,110,277 (GRCm39) Y259N probably damaging Het
Or1j21 C T 2: 36,684,096 (GRCm39) P283S probably damaging Het
Pkmyt1 C T 17: 23,954,013 (GRCm39) R307C probably damaging Het
Plppr4 T C 3: 117,129,060 (GRCm39) I136V probably benign Het
Ppp1r12c A C 7: 4,500,431 (GRCm39) Y150D probably damaging Het
Qrich2 C G 11: 116,356,403 (GRCm39) V149L probably benign Het
R3hdm1 T C 1: 128,121,215 (GRCm39) F176L Het
Ric8a T A 7: 140,437,916 (GRCm39) S52T probably benign Het
Romo1 G T 2: 155,986,340 (GRCm39) probably benign Het
Rps6ka1 G A 4: 133,591,346 (GRCm39) H318Y probably damaging Het
Slc43a3 A G 2: 84,768,151 (GRCm39) N41S probably benign Het
Srrm4 T G 5: 116,582,755 (GRCm39) T567P unknown Het
Srsf12 C G 4: 33,226,070 (GRCm39) P111R probably damaging Het
Sult2a6 T C 7: 13,956,516 (GRCm39) probably null Het
Synj2 A G 17: 5,991,796 (GRCm39) E24G probably damaging Het
Try10 T G 6: 41,334,306 (GRCm39) L166R probably damaging Het
Ttn A G 2: 76,562,544 (GRCm39) V28767A probably damaging Het
Ttn T A 2: 76,604,822 (GRCm39) I18371F probably damaging Het
Zc3h13 T A 14: 75,568,625 (GRCm39) L1306Q probably damaging Het
Zp2 T A 7: 119,726,179 (GRCm39) T674S probably benign Het
Zscan4-ps3 A G 7: 11,346,801 (GRCm39) Y279C probably benign Het
Other mutations in St6galnac4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:St6galnac4 APN 2 32,484,098 (GRCm39) missense probably damaging 1.00
IGL02615:St6galnac4 APN 2 32,484,216 (GRCm39) missense probably benign 0.33
IGL02742:St6galnac4 APN 2 32,487,096 (GRCm39) missense possibly damaging 0.46
paxinterra UTSW 2 32,484,111 (GRCm39) missense probably damaging 1.00
warcraft UTSW 2 32,484,075 (GRCm39) missense probably damaging 1.00
R0454:St6galnac4 UTSW 2 32,484,330 (GRCm39) missense probably damaging 1.00
R0550:St6galnac4 UTSW 2 32,484,031 (GRCm39) nonsense probably null
R0647:St6galnac4 UTSW 2 32,479,460 (GRCm39) missense probably damaging 0.96
R3419:St6galnac4 UTSW 2 32,485,743 (GRCm39) missense probably damaging 1.00
R4682:St6galnac4 UTSW 2 32,484,111 (GRCm39) missense probably damaging 1.00
R4700:St6galnac4 UTSW 2 32,477,172 (GRCm39) unclassified probably benign
R4995:St6galnac4 UTSW 2 32,484,075 (GRCm39) missense probably damaging 1.00
R6538:St6galnac4 UTSW 2 32,487,090 (GRCm39) missense possibly damaging 0.47
R8273:St6galnac4 UTSW 2 32,477,667 (GRCm39) start gained probably benign
R8887:St6galnac4 UTSW 2 32,484,110 (GRCm39) missense probably damaging 1.00
R9388:St6galnac4 UTSW 2 32,479,625 (GRCm39) missense probably damaging 1.00
R9507:St6galnac4 UTSW 2 32,485,739 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAGACAGATTAGTGGACATGATGG -3'
(R):5'- TACATTCTGGTGAGCTGCAGC -3'

Sequencing Primer
(F):5'- CAGATTAGTGGACATGATGGAGGTG -3'
(R):5'- TGAGCTGCAGCAACGTTC -3'
Posted On 2020-09-02