Incidental Mutation 'R5434:St3gal3'
ID 428202
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 042999-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5434 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 117789351-117992111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117797247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 332 (L332P)
Ref Sequence ENSEMBL: ENSMUSP00000102018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030263] [ENSMUST00000097912] [ENSMUST00000106410] [ENSMUST00000126336]
AlphaFold P97325
Predicted Effect probably damaging
Transcript: ENSMUST00000030263
AA Change: L332P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030263
Gene: ENSMUSG00000028538
AA Change: L332P

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: L316P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095525
Gene: ENSMUSG00000028538
AA Change: L316P

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: L332P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102018
Gene: ENSMUSG00000028538
AA Change: L332P

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 probably benign
Transcript: ENSMUST00000126336
SMART Domains Protein: ENSMUSP00000121051
Gene: ENSMUSG00000028538

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 1 159 4.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138274
SMART Domains Protein: ENSMUSP00000114444
Gene: ENSMUSG00000028538

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 52 264 4.8e-38 PFAM
Meta Mutation Damage Score 0.9443 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 G T 9: 20,786,821 (GRCm39) Q301K probably damaging Het
Ankfn1 T C 11: 89,344,013 (GRCm39) Y323C probably damaging Het
Arid5b T A 10: 67,932,719 (GRCm39) H818L possibly damaging Het
Atg13 G T 2: 91,515,110 (GRCm39) probably null Het
Bltp1 A C 3: 36,929,665 (GRCm39) D94A probably damaging Het
Bop1 T C 15: 76,339,611 (GRCm39) M245V probably benign Het
Ces2a T A 8: 105,464,041 (GRCm39) F224L probably damaging Het
Cntnap5b A G 1: 99,999,926 (GRCm39) H228R probably benign Het
Col9a2 A T 4: 120,898,162 (GRCm39) R25* probably null Het
Dcaf12 G T 4: 41,302,744 (GRCm39) T137N probably benign Het
Dennd4c A G 4: 86,729,693 (GRCm39) N765S probably benign Het
Dnah12 A G 14: 26,581,256 (GRCm39) Y3162C probably damaging Het
Dpf1 G T 7: 29,010,756 (GRCm39) C123F possibly damaging Het
Flvcr1 C A 1: 190,758,206 (GRCm39) A29S probably benign Het
Frmd3 A T 4: 74,106,033 (GRCm39) I560F probably damaging Het
Galnt15 G A 14: 31,771,800 (GRCm39) V282I possibly damaging Het
Gm14412 A T 2: 177,006,405 (GRCm39) C497S probably damaging Het
Gm20830 A T Y: 6,916,464 (GRCm39) Y218* probably null Het
Hmcn2 C A 2: 31,310,375 (GRCm39) T3323N probably damaging Het
Idh1 T A 1: 65,214,495 (GRCm39) Q6L probably benign Het
Kansl2-ps A G 7: 72,322,813 (GRCm39) noncoding transcript Het
Kcnj10 T A 1: 172,197,047 (GRCm39) V187E probably damaging Het
Khnyn A G 14: 56,124,957 (GRCm39) T404A probably damaging Het
Lrp1b T A 2: 41,660,880 (GRCm39) N76I probably damaging Het
Lrrc9 G A 12: 72,500,862 (GRCm39) C196Y probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mgp T A 6: 136,849,772 (GRCm39) N62I probably benign Het
Ms4a6c T A 19: 11,448,588 (GRCm39) H40Q probably benign Het
Necab3 A G 2: 154,389,379 (GRCm39) S121P probably damaging Het
Nfkb1 T A 3: 135,332,372 (GRCm39) K128* probably null Het
Nr4a3 A T 4: 48,067,861 (GRCm39) R486W probably damaging Het
Nwd2 A G 5: 63,964,991 (GRCm39) K1525R probably benign Het
Odad2 T C 18: 7,222,550 (GRCm39) K573R probably benign Het
Pbrm1 G T 14: 30,806,968 (GRCm39) D1085Y probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rbm15 A G 3: 107,237,783 (GRCm39) S872P possibly damaging Het
Retsat A G 6: 72,578,518 (GRCm39) I77V probably damaging Het
Rpl32 A G 6: 115,783,996 (GRCm39) F77L probably benign Het
Ryr3 A T 2: 112,624,814 (GRCm39) V2202D probably damaging Het
Sars2 G A 7: 28,449,716 (GRCm39) R387Q probably null Het
Serpinb3d G T 1: 107,006,263 (GRCm39) T275N probably benign Het
Sf3a1 C A 11: 4,124,041 (GRCm39) P296Q probably damaging Het
Sh3bgr A G 16: 96,025,744 (GRCm39) probably benign Het
Ston1 A G 17: 88,952,739 (GRCm39) probably benign Het
Syne2 T A 12: 76,018,649 (GRCm39) S3383T probably damaging Het
Tektl1 A T 10: 78,584,484 (GRCm39) L346* probably null Het
Tnfsf14 A G 17: 57,499,592 (GRCm39) S87P probably benign Het
Trap1 T C 16: 3,862,529 (GRCm39) D583G probably benign Het
Ube3d A T 9: 86,309,460 (GRCm39) I212N possibly damaging Het
Usp34 T A 11: 23,362,271 (GRCm39) D1572E probably damaging Het
Vmn1r179 A T 7: 23,628,387 (GRCm39) T193S probably benign Het
Vmn2r111 C A 17: 22,767,470 (GRCm39) V676L probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wls C T 3: 159,639,976 (GRCm39) R536C probably damaging Het
Zfhx3 A G 8: 109,519,031 (GRCm39) D51G probably damaging 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
R1735:St3gal3 UTSW 4 117,871,971 (GRCm39) missense probably damaging 1.00
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
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'- TAGCTGTGAGTGGTCCTTCC -3'
(R):5'- AGAAGGCCCATCTTGGAAGTG -3'

Sequencing Primer
(F):5'- CAGGAACTCTGGGCAGC -3'
(R):5'- CCCATCTTGGAAGTGGGCTTG -3'
Posted On 2016-09-01