Incidental Mutation 'R5199:St3gal1'
ID 400625
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 042775-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5199 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 66974724-67048575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66985564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 30 (V30A)
Ref Sequence ENSEMBL: ENSMUSP00000155359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092640] [ENSMUST00000229028] [ENSMUST00000229213]
AlphaFold P54751
Predicted Effect probably benign
Transcript: ENSMUST00000092640
AA Change: V30A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000090307
Gene: ENSMUSG00000013846
AA Change: V30A

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Glyco_transf_29 80 336 1.7e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229028
AA Change: V30A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000229213
AA Change: V30A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230150
Meta Mutation Damage Score 0.0998 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (57/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 T C 3: 59,843,906 (GRCm39) L200P probably damaging Het
Adam1a T C 5: 121,659,215 (GRCm39) E26G probably benign Het
Adar T A 3: 89,653,251 (GRCm39) M797K probably damaging Het
Amdhd1 A T 10: 93,361,847 (GRCm39) C352S probably damaging Het
AW554918 C A 18: 25,473,356 (GRCm39) R387S probably damaging Het
Cabp1 A G 5: 115,324,102 (GRCm39) V5A possibly damaging Het
Carmil1 A G 13: 24,295,853 (GRCm39) L387P probably damaging Het
Cds2 T A 2: 132,140,403 (GRCm39) H200Q probably damaging Het
Cep170b T A 12: 112,710,581 (GRCm39) L1470Q probably damaging Het
Cnnm1 A G 19: 43,483,425 (GRCm39) D956G possibly damaging Het
Cnot8 C T 11: 58,006,100 (GRCm39) Q210* probably null Het
Cpne8 G A 15: 90,532,812 (GRCm39) T65I probably benign Het
Crygn A G 5: 24,961,156 (GRCm39) V50A probably damaging Het
Cxcr4 A G 1: 128,517,283 (GRCm39) V126A probably damaging Het
Cyp4f15 A G 17: 32,921,346 (GRCm39) D464G probably benign Het
Dapp1 C T 3: 137,687,146 (GRCm39) S12N probably benign Het
Dhps G A 8: 85,800,035 (GRCm39) G162R probably damaging Het
Dsp T G 13: 38,376,878 (GRCm39) Y1554* probably null Het
Etl4 G T 2: 20,748,853 (GRCm39) R397L probably damaging Het
Ezh2 C T 6: 47,528,659 (GRCm39) C291Y probably benign Het
Gbp9 T C 5: 105,231,678 (GRCm39) S303G probably benign Het
Gm11444 A C 11: 85,738,845 (GRCm39) S83A unknown Het
Gpat4 A G 8: 23,672,712 (GRCm39) V46A possibly damaging Het
Haus6 T C 4: 86,501,222 (GRCm39) D883G possibly damaging Het
Hinfp T C 9: 44,207,689 (GRCm39) E439G probably benign Het
Ifna14 T A 4: 88,489,599 (GRCm39) Y146F probably damaging Het
Igkv3-3 A T 6: 70,664,488 (GRCm39) Y110F probably damaging Het
Kansl2-ps A G 7: 72,322,942 (GRCm39) noncoding transcript Het
Klrh1 T A 6: 129,752,781 (GRCm39) Y8F possibly damaging Het
Mcmdc2 T C 1: 9,990,660 (GRCm39) V279A probably benign Het
Mug2 T A 6: 122,017,619 (GRCm39) V452D probably benign Het
Ndufb3 C G 1: 58,630,281 (GRCm39) probably benign Het
Oas1d G T 5: 121,057,208 (GRCm39) K271N probably benign Het
Or4c110 T A 2: 88,832,107 (GRCm39) H175L possibly damaging Het
Or5ac21 T A 16: 59,124,103 (GRCm39) F196I probably benign Het
Or9g3 A G 2: 85,590,558 (GRCm39) L54P probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcnt T A 10: 76,254,378 (GRCm39) H817L probably benign Het
Per3 G T 4: 151,097,352 (GRCm39) S724R probably benign Het
Phlpp1 T A 1: 106,101,124 (GRCm39) V464E probably damaging Het
Psme4 A G 11: 30,803,272 (GRCm39) E38G probably benign Het
Qtrt2 T C 16: 43,687,788 (GRCm39) N264S probably benign Het
Ranbp2 G A 10: 58,300,265 (GRCm39) R557H probably benign Het
Rptor T A 11: 119,494,642 (GRCm39) S3T probably benign Het
Saxo1 T A 4: 86,406,019 (GRCm39) Y60F probably damaging Het
Tmem245 G A 4: 56,925,149 (GRCm39) S324L probably benign Het
Topbp1 A G 9: 103,223,871 (GRCm39) probably benign Het
Urb1 T C 16: 90,589,636 (GRCm39) T382A possibly damaging Het
Vmn1r178 A T 7: 23,593,814 (GRCm39) L214F probably benign Het
Vmn2r82 G A 10: 79,231,921 (GRCm39) C640Y probably damaging Het
Vsx2 A G 12: 84,639,984 (GRCm39) D281G probably benign Het
Zfp804b A T 5: 6,820,013 (GRCm39) C1017S probably benign 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
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
R6371: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'- CAGACCCTATTCTGCTCACCAG -3'
(R):5'- TCTGTTCAGCTCTAGGAGGG -3'

Sequencing Primer
(F):5'- TCCATCAGAGCGTTGTGGAC -3'
(R):5'- GGGGGTCTCCTCTCTTCCAC -3'
Posted On 2016-07-06