Incidental Mutation 'R7784:St8sia5'
ID 599475
Institutional Source Beutler Lab
Gene Symbol St8sia5
Ensembl Gene ENSMUSG00000025425
Gene Name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5
Synonyms Siat8e, ST8SiaV
MMRRC Submission 045840-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R7784 (G1)
Quality Score 214.009
Status Validated
Chromosome 18
Chromosomal Location 77185853-77255450 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77254550 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 319 (S319G)
Ref Sequence ENSEMBL: ENSMUSP00000074764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075290] [ENSMUST00000079618]
AlphaFold P70126
Predicted Effect probably benign
Transcript: ENSMUST00000075290
AA Change: S319G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425
AA Change: S319G

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Glyco_transf_29 152 407 6.4e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079618
AA Change: S283G

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425
AA Change: S283G

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Glyco_transf_29 112 372 5.4e-79 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (66/66)
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 may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,182,828 (GRCm38) probably null Het
3425401B19Rik A T 14: 32,659,840 (GRCm38) S1389R probably benign Het
Abca9 A T 11: 110,154,417 (GRCm38) C363* probably null Het
Actbl2 T A 13: 111,255,411 (GRCm38) N93K probably damaging Het
Adamtsl3 T C 7: 82,573,989 (GRCm38) Y993H probably damaging Het
Adgrg1 G A 8: 95,012,882 (GRCm38) W653* probably null Het
Akap13 T A 7: 75,610,328 (GRCm38) V97D probably benign Het
C130026I21Rik T A 1: 85,212,474 (GRCm38) probably null Het
Cacna1d T A 14: 30,123,439 (GRCm38) D613V probably damaging Het
Col10a1 C A 10: 34,394,218 (GRCm38) P62H unknown Het
Cpb2 A T 14: 75,275,040 (GRCm38) N298Y probably damaging Het
Ddc A G 11: 11,839,396 (GRCm38) probably null Het
Ddx6 T C 9: 44,630,142 (GRCm38) probably null Het
Epb42 T G 2: 121,034,435 (GRCm38) K58N probably benign Het
Eps8 T A 6: 137,499,587 (GRCm38) I605L probably benign Het
Eps8l1 T C 7: 4,472,122 (GRCm38) L304P probably damaging Het
Erbb4 T A 1: 68,075,499 (GRCm38) I929F probably damaging Het
Erc2 A T 14: 27,898,594 (GRCm38) N393I probably damaging Het
Fbxw25 C T 9: 109,650,119 (GRCm38) D355N Het
Ffar2 T C 7: 30,819,258 (GRCm38) K286E probably benign Het
Gabrd A G 4: 155,388,932 (GRCm38) probably null Het
Ganc G A 2: 120,436,668 (GRCm38) W488* probably null Het
Gm5724 C T 6: 141,713,193 (GRCm38) probably null Het
Ifi207 T A 1: 173,730,132 (GRCm38) M347L unknown Het
Kat6b A T 14: 21,660,841 (GRCm38) I619F probably damaging Het
Kif26a A G 12: 112,178,147 (GRCm38) R1612G possibly damaging Het
Kifc3 A G 8: 95,110,692 (GRCm38) probably null Het
Krt39 A T 11: 99,521,031 (GRCm38) C76* probably null Het
Lcmt1 G T 7: 123,401,495 (GRCm38) R84L probably benign Het
Lrit1 A G 14: 37,061,780 (GRCm38) Y355C probably benign Het
Mad2l1 C A 6: 66,535,413 (GRCm38) probably null Het
Med23 C T 10: 24,902,448 (GRCm38) T870M probably damaging Het
Mrpl2 A G 17: 46,648,591 (GRCm38) probably null Het
Mtmr6 A G 14: 60,300,445 (GRCm38) D593G probably benign Het
Myo15b G A 11: 115,861,340 (GRCm38) V683M Het
Neb T A 2: 52,235,488 (GRCm38) M506L Het
Olfr103 A G 17: 37,337,055 (GRCm38) F59S probably damaging Het
Olfr103 T C 17: 37,336,578 (GRCm38) Y218C probably benign Het
Olfr1154 G A 2: 87,903,193 (GRCm38) T161I probably benign Het
Olfr434 T A 6: 43,217,388 (GRCm38) H158Q possibly damaging Het
Pdzd8 A G 19: 59,327,863 (GRCm38) F294L probably damaging Het
Rabgap1 G A 2: 37,487,532 (GRCm38) S347N possibly damaging Het
Rasgrf2 T C 13: 91,896,082 (GRCm38) T350A Het
Rbp3 A T 14: 33,954,158 (GRCm38) H21L probably benign Het
Rp1 C A 1: 4,142,658 (GRCm38) V1069F unknown Het
Rtn4 T A 11: 29,741,048 (GRCm38) L1113* probably null Het
Ryr3 A G 2: 112,775,695 (GRCm38) F2407L probably damaging Het
Sept2 T A 1: 93,497,444 (GRCm38) D107E probably damaging Het
Sept4 A G 11: 87,579,008 (GRCm38) T7A probably benign Het
Slc34a3 T A 2: 25,232,225 (GRCm38) I123F probably damaging Het
Slc9a4 T C 1: 40,600,776 (GRCm38) Y243H probably damaging Het
Slco1a1 T A 6: 141,943,388 (GRCm38) E66V probably damaging Het
Spata33 A G 8: 123,213,252 (GRCm38) R68G unknown Het
Spta1 G A 1: 174,202,451 (GRCm38) D928N probably damaging Het
Tmem208 A G 8: 105,328,833 (GRCm38) D149G possibly damaging Het
Trank1 A T 9: 111,364,103 (GRCm38) I583F probably damaging Het
Trio C T 15: 27,763,994 (GRCm38) V2015M probably damaging Het
Tsc22d1 C T 14: 76,416,701 (GRCm38) Q207* probably null Het
Tshr A G 12: 91,505,305 (GRCm38) D143G probably benign Het
Txlna C T 4: 129,632,157 (GRCm38) R299H probably damaging Het
Ush2a A T 1: 188,444,592 (GRCm38) T1318S possibly damaging Het
Utp14b A G 1: 78,664,943 (GRCm38) K186R probably damaging Het
Vars2 C T 17: 35,658,158 (GRCm38) A884T possibly damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,815,240 (GRCm38) probably benign Het
Zfp775 A G 6: 48,619,249 (GRCm38) Q19R possibly damaging Het
Other mutations in St8sia5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:St8sia5 APN 18 77,254,662 (GRCm38) missense probably damaging 1.00
IGL01320:St8sia5 APN 18 77,254,622 (GRCm38) missense probably damaging 1.00
IGL01682:St8sia5 APN 18 77,248,500 (GRCm38) missense probably damaging 0.99
IGL01984:St8sia5 APN 18 77,248,461 (GRCm38) missense probably benign 0.03
ANU22:St8sia5 UTSW 18 77,254,662 (GRCm38) missense probably damaging 1.00
R0194:St8sia5 UTSW 18 77,254,724 (GRCm38) missense probably benign 0.13
R0392:St8sia5 UTSW 18 77,254,406 (GRCm38) missense probably damaging 1.00
R0622:St8sia5 UTSW 18 77,246,113 (GRCm38) missense probably damaging 1.00
R0696:St8sia5 UTSW 18 77,254,464 (GRCm38) missense probably damaging 1.00
R1231:St8sia5 UTSW 18 77,232,806 (GRCm38) missense probably damaging 0.97
R1559:St8sia5 UTSW 18 77,211,764 (GRCm38) critical splice donor site probably null
R2058:St8sia5 UTSW 18 77,254,763 (GRCm38) missense probably damaging 1.00
R2059:St8sia5 UTSW 18 77,254,763 (GRCm38) missense probably damaging 1.00
R2268:St8sia5 UTSW 18 77,232,830 (GRCm38) missense probably damaging 0.99
R4399:St8sia5 UTSW 18 77,253,018 (GRCm38) missense probably damaging 1.00
R4926:St8sia5 UTSW 18 77,254,782 (GRCm38) missense possibly damaging 0.84
R5986:St8sia5 UTSW 18 77,254,782 (GRCm38) missense possibly damaging 0.84
R6301:St8sia5 UTSW 18 77,246,140 (GRCm38) missense probably damaging 0.98
R7020:St8sia5 UTSW 18 77,246,180 (GRCm38) missense probably damaging 0.97
R7087:St8sia5 UTSW 18 77,254,542 (GRCm38) missense possibly damaging 0.88
R8037:St8sia5 UTSW 18 77,248,542 (GRCm38) missense possibly damaging 0.95
R8153:St8sia5 UTSW 18 77,253,111 (GRCm38) critical splice donor site probably null
R8544:St8sia5 UTSW 18 77,254,418 (GRCm38) missense probably damaging 1.00
R8858:St8sia5 UTSW 18 77,232,815 (GRCm38) missense probably benign 0.01
R8906:St8sia5 UTSW 18 77,248,476 (GRCm38) missense probably damaging 1.00
R8980:St8sia5 UTSW 18 77,246,065 (GRCm38) critical splice acceptor site probably null
R9294:St8sia5 UTSW 18 77,254,829 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGCAGGTTCCACAAGTTG -3'
(R):5'- GTGAAGATCTCCGAGGGCATAG -3'

Sequencing Primer
(F):5'- CACAAGTTGGAGAAGTGGCG -3'
(R):5'- CATAGCATGGAAACCCGGCTTG -3'
Posted On 2019-11-26