Incidental Mutation 'R6371:St3gal1'
ID 513537
Institutional Source Beutler Lab
Gene Symbol St3gal1
Ensembl Gene ENSMUSG00000013846
Gene Name ST3 beta-galactoside alpha-2,3-sialyltransferase 1
Synonyms Siat4a, CMP-N-acetylneuraminate: [beta-galactosidase alpha-2,3] sialytransferase, ST3GalI, Siat4
MMRRC Submission 044521-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R6371 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 66974724-67048575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66983195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 187 (V187A)
Ref Sequence ENSEMBL: ENSMUSP00000155359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092640] [ENSMUST00000229028] [ENSMUST00000229213]
AlphaFold P54751
Predicted Effect possibly damaging
Transcript: ENSMUST00000092640
AA Change: V187A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000090307
Gene: ENSMUSG00000013846
AA Change: V187A

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Glyco_transf_29 80 336 1.7e-74 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000229028
AA Change: V187A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229213
AA Change: V187A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230150
Meta Mutation Damage Score 0.4530 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.1%
Validation Efficiency 98% (50/51)
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 is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b C T 12: 113,453,894 (GRCm39) S237L probably damaging Het
Ank3 T G 10: 69,644,709 (GRCm39) L58V probably damaging Het
Arsb A T 13: 93,926,574 (GRCm39) I115F possibly damaging Het
Atad2b T C 12: 5,023,970 (GRCm39) Y32H probably damaging Het
Brd1 A C 15: 88,598,201 (GRCm39) M515R probably benign Het
Cbx7 A G 15: 79,803,023 (GRCm39) S30P possibly damaging Het
Cdk12 A G 11: 98,136,114 (GRCm39) T1123A unknown Het
Cep170b A G 12: 112,707,379 (GRCm39) D375G probably damaging Het
Clcn3 T C 8: 61,390,369 (GRCm39) K164E probably benign Het
Clip4 A C 17: 72,163,459 (GRCm39) K677T probably damaging Het
Clrn2 T C 5: 45,617,540 (GRCm39) I137T possibly damaging Het
Cntln T C 4: 84,802,816 (GRCm39) S39P probably damaging Het
Crocc2 T A 1: 93,143,353 (GRCm39) N1318K probably benign Het
Emc1 C T 4: 139,098,976 (GRCm39) Q820* probably null Het
Fbxl2 G A 9: 113,818,451 (GRCm39) T170I probably damaging Het
Fyb2 A G 4: 104,852,975 (GRCm39) T552A probably damaging Het
Garin5b A G 7: 4,762,358 (GRCm39) V257A probably benign Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Hspg2 T C 4: 137,269,006 (GRCm39) Y2213H probably damaging Het
Ifnar2 T C 16: 91,184,986 (GRCm39) Y24H possibly damaging Het
Inpp5d T A 1: 87,627,397 (GRCm39) L566Q probably damaging Het
Itgb2 C A 10: 77,384,431 (GRCm39) P184H probably damaging Het
Kcnb2 T A 1: 15,781,436 (GRCm39) D769E probably benign Het
Lrp1b A G 2: 40,741,666 (GRCm39) M3087T possibly damaging Het
Ltbp3 A G 19: 5,795,800 (GRCm39) probably null Het
Ms4a6b A G 19: 11,497,728 (GRCm39) E9G probably damaging Het
Nat3 G A 8: 67,976,831 (GRCm39) probably null Het
Ndufaf1 A T 2: 119,490,534 (GRCm39) D175E probably damaging Het
Nop58 T G 1: 59,750,471 (GRCm39) probably benign Het
Or10al6 A G 17: 38,083,326 (GRCm39) T261A probably benign Het
Or8s16 A G 15: 98,211,219 (GRCm39) Y71H possibly damaging Het
P3h4 C T 11: 100,302,575 (GRCm39) E354K probably benign Het
Plekhm2 T G 4: 141,356,843 (GRCm39) T787P possibly damaging Het
Ppia C T 11: 6,368,230 (GRCm39) T37I probably benign Het
Reln T A 5: 22,200,511 (GRCm39) M1330L probably benign Het
Ric1 A G 19: 29,539,426 (GRCm39) E53G probably benign Het
Sgip1 T A 4: 102,823,482 (GRCm39) V721E probably damaging Het
Slc33a1 A T 3: 63,850,709 (GRCm39) D538E probably benign Het
Son T C 16: 91,471,629 (GRCm39) Het
Srebf1 A T 11: 60,094,341 (GRCm39) S591R probably damaging Het
Taok2 G A 7: 126,469,319 (GRCm39) R1170W probably damaging Het
Tsc2 A T 17: 24,845,688 (GRCm39) V210E probably benign Het
Ttc6 T A 12: 57,775,249 (GRCm39) N1648K possibly damaging Het
Vgll3 C T 16: 65,636,131 (GRCm39) P94L probably damaging Het
Vmn2r54 A T 7: 12,349,362 (GRCm39) V740E probably damaging Het
Yeats2 A G 16: 20,040,460 (GRCm39) E1127G possibly damaging Het
Zfp709 T A 8: 72,643,329 (GRCm39) Y252N probably damaging Het
Other mutations in St3gal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:St3gal1 APN 15 66,984,466 (GRCm39) missense probably benign 0.03
Benelux UTSW 15 66,985,634 (GRCm39) nonsense probably null
Lichtenstein UTSW 15 66,980,086 (GRCm39) missense possibly damaging 0.87
Luxembourg UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
Monaco UTSW 15 66,985,511 (GRCm39) missense probably damaging 0.99
Strasbourg UTSW 15 66,978,522 (GRCm39) missense probably damaging 0.99
R0452:St3gal1 UTSW 15 66,981,504 (GRCm39) splice site probably benign
R0478:St3gal1 UTSW 15 66,985,579 (GRCm39) missense probably damaging 1.00
R0735:St3gal1 UTSW 15 66,985,536 (GRCm39) missense probably benign
R2357:St3gal1 UTSW 15 66,985,631 (GRCm39) missense probably benign 0.01
R5061:St3gal1 UTSW 15 66,980,078 (GRCm39) missense probably benign 0.40
R5199:St3gal1 UTSW 15 66,985,564 (GRCm39) missense probably benign 0.00
R5734:St3gal1 UTSW 15 66,978,522 (GRCm39) missense probably damaging 0.99
R5828:St3gal1 UTSW 15 66,985,634 (GRCm39) nonsense probably null
R6370:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6373:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6385:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6387:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6388:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6417:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6420:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6421:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6462:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6463:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6469:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6473:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6474:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6759:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6760:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6894:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6963:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R7250:St3gal1 UTSW 15 66,978,578 (GRCm39) missense possibly damaging 0.89
R7394:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R7588:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R7590:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R7591:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R7860:St3gal1 UTSW 15 66,983,114 (GRCm39) missense probably benign 0.38
R7954:St3gal1 UTSW 15 66,984,422 (GRCm39) missense probably damaging 1.00
R8346:St3gal1 UTSW 15 66,985,511 (GRCm39) missense probably damaging 0.99
R8347:St3gal1 UTSW 15 66,985,511 (GRCm39) missense probably damaging 0.99
R8348:St3gal1 UTSW 15 66,985,511 (GRCm39) missense probably damaging 0.99
R8895:St3gal1 UTSW 15 66,980,086 (GRCm39) missense possibly damaging 0.87
R9765:St3gal1 UTSW 15 66,981,499 (GRCm39) missense possibly damaging 0.83
Z1177:St3gal1 UTSW 15 66,983,216 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AGGAACCTTACGGAACAGCC -3'
(R):5'- GTCTGTCTGGCCTATGTCTACAAG -3'

Sequencing Primer
(F):5'- CCCAGCAGGAGTGATACGTTG -3'
(R):5'- AGGTTCCCATTGTACACACGGAG -3'
Posted On 2018-04-27