Incidental Mutation 'R1735:St3gal3'
ID 199623
Institutional Source Beutler Lab
Gene Symbol St3gal3
Ensembl Gene ENSMUSG00000028538
Gene Name ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Synonyms Siat6, Siat3, ST3Gal III
MMRRC Submission 039767-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1735 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 117789351-117992111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117871971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 77 (Y77C)
Ref Sequence ENSEMBL: ENSMUSP00000102018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030263] [ENSMUST00000097912] [ENSMUST00000106410]
AlphaFold P97325
Predicted Effect probably damaging
Transcript: ENSMUST00000030263
AA Change: Y77C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030263
Gene: ENSMUSG00000028538
AA Change: Y77C

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 37 47 N/A INTRINSIC
Pfam:Glyco_transf_29 102 373 5.7e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097912
AA Change: Y61C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095525
Gene: ENSMUSG00000028538
AA Change: Y61C

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_transf_29 86 357 5.4e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106410
AA Change: Y77C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102018
Gene: ENSMUSG00000028538
AA Change: Y77C

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 37 47 N/A INTRINSIC
Pfam:Glyco_transf_29 106 372 4.7e-63 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000138274
AA Change: Y22C
SMART Domains Protein: ENSMUSP00000114444
Gene: ENSMUSG00000028538
AA Change: Y22C

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 52 264 4.8e-38 PFAM
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 97.0%
  • 10x: 95.3%
  • 20x: 92.1%
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 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. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene show an apparently normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A T 12: 84,122,261 (GRCm39) I282F probably benign Het
Adam19 C A 11: 46,029,744 (GRCm39) Q730K probably benign Het
Adgrv1 A G 13: 81,636,066 (GRCm39) V3481A possibly damaging Het
Akr1c20 T C 13: 4,537,207 (GRCm39) D316G probably benign Het
Ap3b1 G A 13: 94,630,225 (GRCm39) V827I unknown Het
Aph1a T A 3: 95,802,821 (GRCm39) D140E probably damaging Het
Arhgef19 G T 4: 140,976,929 (GRCm39) V502L possibly damaging Het
Arl9 T C 5: 77,154,473 (GRCm39) F67S probably damaging Het
B430305J03Rik G A 3: 61,271,361 (GRCm39) probably benign Het
B4galnt2 A G 11: 95,781,809 (GRCm39) F119L probably damaging Het
Bcap29 T A 12: 31,680,839 (GRCm39) N49I probably damaging Het
Capn11 T A 17: 45,943,327 (GRCm39) K616* probably null Het
Cdh12 T A 15: 21,520,452 (GRCm39) Y306N probably damaging Het
Cep350 T A 1: 155,828,960 (GRCm39) N315Y probably damaging Het
Cfap300 A C 9: 8,027,266 (GRCm39) S91A probably benign Het
Cited2 C A 10: 17,599,794 (GRCm39) P34Q probably damaging Het
Cmya5 A T 13: 93,226,297 (GRCm39) D2930E probably benign Het
Cog3 T A 14: 75,966,761 (GRCm39) K470* probably null Het
Commd10 A G 18: 47,123,552 (GRCm39) T136A probably benign Het
Csf2ra C A 19: 61,214,782 (GRCm39) D181Y probably damaging Het
Csmd1 T A 8: 15,982,610 (GRCm39) I2686F probably damaging Het
Dhx29 T C 13: 113,081,620 (GRCm39) S415P probably benign Het
Dsel A T 1: 111,788,645 (GRCm39) F630Y probably damaging Het
Ell T A 8: 71,031,590 (GRCm39) I96N possibly damaging Het
Ephx2 T A 14: 66,325,752 (GRCm39) I358L probably benign Het
Fam162b A G 10: 51,463,307 (GRCm39) I120T probably damaging Het
Fam187a T C 11: 102,776,606 (GRCm39) Y137H probably damaging Het
Fastk T C 5: 24,646,801 (GRCm39) E403G probably damaging Het
Fcrlb C A 1: 170,734,901 (GRCm39) V409F probably benign Het
Flot2 G T 11: 77,948,831 (GRCm39) A269S probably benign Het
Gpd2 T A 2: 57,245,563 (GRCm39) N419K probably damaging Het
Hecw1 A T 13: 14,552,350 (GRCm39) M61K probably null Het
Htr2a T C 14: 74,943,568 (GRCm39) F383L probably damaging Het
Kctd6 C T 14: 8,222,253 (GRCm38) R32C probably damaging Het
Khdc1a A G 1: 21,421,189 (GRCm39) T125A probably benign Het
Klhl40 T C 9: 121,609,004 (GRCm39) S390P probably benign Het
Lonp1 G A 17: 56,921,956 (GRCm39) T808I probably damaging Het
Loxhd1 A C 18: 77,492,585 (GRCm39) D1342A probably damaging Het
Lrat T C 3: 82,804,417 (GRCm39) I187V probably benign Het
Lrif1 T C 3: 106,643,162 (GRCm39) *238Q probably null Het
Lrp2bp T C 8: 46,465,025 (GRCm39) F48S probably benign Het
Mafg A G 11: 120,520,504 (GRCm39) M32T possibly damaging Het
Map4 C T 9: 109,864,023 (GRCm39) T416I probably benign Het
N4bp2 T C 5: 65,965,659 (GRCm39) F1236S probably damaging Het
Nfatc3 A G 8: 106,810,466 (GRCm39) D414G probably damaging Het
Nhsl3 G T 4: 129,117,370 (GRCm39) S476R probably damaging Het
Nrip2 T G 6: 128,382,037 (GRCm39) V50G probably damaging Het
Or10aa3 A T 1: 173,878,365 (GRCm39) K142I probably benign Het
Or10j5 A G 1: 172,784,374 (GRCm39) N4S probably benign Het
Or52ae7 T A 7: 103,119,353 (GRCm39) F36I possibly damaging Het
Or5b24 T A 19: 12,912,207 (GRCm39) I35N probably damaging Het
Pcdhb18 A T 18: 37,623,822 (GRCm39) H384L probably benign Het
Pik3r1 A T 13: 101,822,882 (GRCm39) Y607N probably damaging Het
Plagl2 G A 2: 153,074,397 (GRCm39) T168I probably damaging Het
Polr2a A G 11: 69,633,222 (GRCm39) S912P probably damaging Het
Ppp1r16b A G 2: 158,603,415 (GRCm39) K447E possibly damaging Het
Prkd1 T C 12: 50,388,822 (GRCm39) E907G possibly damaging Het
Rabep2 A G 7: 126,043,712 (GRCm39) R470G probably damaging Het
Rasal2 T C 1: 157,001,730 (GRCm39) Y518C probably damaging Het
Rbmxl1 A G 8: 79,232,711 (GRCm39) Y211H probably damaging Het
Rdh7 T C 10: 127,720,454 (GRCm39) Y306C probably benign Het
Rtn3 T C 19: 7,435,276 (GRCm39) I220V probably damaging Het
Scn8a A G 15: 100,913,742 (GRCm39) N1045D possibly damaging Het
Scube1 T C 15: 83,491,638 (GRCm39) H952R probably damaging Het
Sf3b1 A G 1: 55,039,811 (GRCm39) I690T probably damaging Het
Sharpin T C 15: 76,232,136 (GRCm39) K240R probably benign Het
Skint5 A G 4: 113,420,656 (GRCm39) I1108T unknown Het
Snip1 A G 4: 124,964,994 (GRCm39) D133G probably benign Het
Sytl3 T C 17: 6,982,880 (GRCm39) V112A probably benign Het
Tnxb C T 17: 34,936,944 (GRCm39) P3718S probably damaging Het
Ttc24 A T 3: 87,980,401 (GRCm39) probably null Het
Ubr3 A T 2: 69,839,473 (GRCm39) E1529V probably damaging Het
Utrn T A 10: 12,585,882 (GRCm39) H965L probably benign Het
Xrn2 T A 2: 146,903,343 (GRCm39) L781Q probably damaging Het
Zbtb11 T C 16: 55,811,045 (GRCm39) I401T probably benign Het
Zc3h14 C T 12: 98,724,839 (GRCm39) P167L probably damaging Het
Zfp609 G T 9: 65,610,374 (GRCm39) S863* probably null Het
Other mutations in St3gal3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:St3gal3 APN 4 117,889,072 (GRCm39) missense probably damaging 1.00
IGL02004:St3gal3 APN 4 117,817,236 (GRCm39) missense possibly damaging 0.90
IGL02339:St3gal3 APN 4 117,815,759 (GRCm39) missense probably damaging 1.00
IGL03186:St3gal3 APN 4 117,797,251 (GRCm39) missense possibly damaging 0.93
giovanni UTSW 4 117,817,204 (GRCm39) missense possibly damaging 0.84
Leporello UTSW 4 117,814,633 (GRCm39) missense
R0598:St3gal3 UTSW 4 117,964,829 (GRCm39) missense probably benign 0.38
R1466:St3gal3 UTSW 4 117,964,859 (GRCm39) start codon destroyed probably null
R1466:St3gal3 UTSW 4 117,964,859 (GRCm39) start codon destroyed probably null
R1474:St3gal3 UTSW 4 117,871,983 (GRCm39) missense probably damaging 1.00
R1584:St3gal3 UTSW 4 117,964,859 (GRCm39) start codon destroyed probably null
R1585:St3gal3 UTSW 4 117,817,204 (GRCm39) missense possibly damaging 0.84
R1696:St3gal3 UTSW 4 117,797,589 (GRCm39) missense possibly damaging 0.52
R1958:St3gal3 UTSW 4 117,797,268 (GRCm39) missense probably damaging 0.96
R4008:St3gal3 UTSW 4 117,797,637 (GRCm39) missense probably benign 0.34
R4700:St3gal3 UTSW 4 117,817,232 (GRCm39) missense probably benign 0.01
R5434:St3gal3 UTSW 4 117,797,247 (GRCm39) missense probably damaging 1.00
R6257:St3gal3 UTSW 4 117,964,875 (GRCm39) start gained probably benign
R6854:St3gal3 UTSW 4 117,815,727 (GRCm39) missense probably benign 0.00
R7218:St3gal3 UTSW 4 117,814,639 (GRCm39) missense
R7304:St3gal3 UTSW 4 117,814,633 (GRCm39) missense
R7569:St3gal3 UTSW 4 117,821,553 (GRCm39) missense probably benign 0.09
R7783:St3gal3 UTSW 4 117,797,320 (GRCm39) missense probably benign 0.07
R8202:St3gal3 UTSW 4 117,964,868 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CATGAGAAGGTCATGTTCTCGCCG -3'
(R):5'- ACAAGCTATGTCCAGCAGTGCTCC -3'

Sequencing Primer
(F):5'- CGGCATTCCACATGATTGAG -3'
(R):5'- TTTGTGGAGGCCACCGAG -3'
Posted On 2014-05-23