Incidental Mutation 'R4331:A4galt'
ID 323597
Institutional Source Beutler Lab
Gene Symbol A4galt
Ensembl Gene ENSMUSG00000047878
Gene Name alpha 1,4-galactosyltransferase
Synonyms Gb3 synthase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4331 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 83110923-83135930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83111880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 301 (Y301C)
Ref Sequence ENSEMBL: ENSMUSP00000129719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049530] [ENSMUST00000164614] [ENSMUST00000229687]
AlphaFold Q67BJ4
Predicted Effect probably damaging
Transcript: ENSMUST00000049530
AA Change: Y301C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057999
Gene: ENSMUSG00000047878
AA Change: Y301C

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Pfam:Gly_transf_sug 97 221 2.6e-30 PFAM
Pfam:Gb3_synth 228 355 2.3e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164614
AA Change: Y301C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129719
Gene: ENSMUSG00000047878
AA Change: Y301C

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Pfam:Gly_transf_sug 97 221 2.6e-30 PFAM
Pfam:Gb3_synth 227 359 3.8e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229454
Predicted Effect probably benign
Transcript: ENSMUST00000229687
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous null mice display reduced sensitivity to verotoxin but do not display any gross morphological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 8,993,184 (GRCm39) D4823N probably damaging Het
Angptl2 A T 2: 33,118,760 (GRCm39) D178V probably damaging Het
Capn8 A T 1: 182,432,019 (GRCm39) D330V probably damaging Het
Clec16a T C 16: 10,389,533 (GRCm39) V200A probably benign Het
Fcrla C T 1: 170,749,245 (GRCm39) R96Q possibly damaging Het
Lrpprc A G 17: 85,047,970 (GRCm39) probably null Het
Map4k5 A T 12: 69,874,148 (GRCm39) S425T probably benign Het
Mthfsl A G 9: 88,570,834 (GRCm39) V195A probably damaging Het
Myocd A T 11: 65,114,590 (GRCm39) H49Q probably benign Het
Nlk A G 11: 78,481,774 (GRCm39) I229T possibly damaging Het
Plxna4 G A 6: 32,127,480 (GRCm39) Q1876* probably null Het
Ramp1 C T 1: 91,151,067 (GRCm39) T144I possibly damaging Het
Rhbdf2 A G 11: 116,493,122 (GRCm39) Y375H probably damaging Het
Scpep1 G A 11: 88,826,729 (GRCm39) Q236* probably null Het
Ssc5d G A 7: 4,945,725 (GRCm39) G919D probably benign Het
Vmn1r60 A T 7: 5,547,364 (GRCm39) C245* probably null Het
Vmn2r103 T A 17: 20,014,495 (GRCm39) M429K probably benign Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Other mutations in A4galt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:A4galt APN 15 83,112,526 (GRCm39) missense probably damaging 0.99
IGL01827:A4galt APN 15 83,112,135 (GRCm39) missense possibly damaging 0.52
IGL02745:A4galt APN 15 83,112,282 (GRCm39) missense probably benign
IGL03201:A4galt APN 15 83,112,468 (GRCm39) missense probably damaging 1.00
R0001:A4galt UTSW 15 83,112,490 (GRCm39) missense probably benign 0.27
R0440:A4galt UTSW 15 83,112,694 (GRCm39) missense probably damaging 0.98
R2763:A4galt UTSW 15 83,111,871 (GRCm39) missense probably benign 0.03
R4712:A4galt UTSW 15 83,111,810 (GRCm39) missense probably damaging 1.00
R4941:A4galt UTSW 15 83,112,529 (GRCm39) missense probably damaging 1.00
R6003:A4galt UTSW 15 83,112,312 (GRCm39) missense probably benign 0.05
R6247:A4galt UTSW 15 83,112,020 (GRCm39) missense probably damaging 0.99
R6607:A4galt UTSW 15 83,112,507 (GRCm39) missense possibly damaging 0.81
R7908:A4galt UTSW 15 83,112,577 (GRCm39) missense probably benign
R8479:A4galt UTSW 15 83,112,061 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATATGACTGCAGCCTGAAGG -3'
(R):5'- CTTGGCACTGTGTCTACATGAC -3'

Sequencing Primer
(F):5'- GAAGGGCTGTCACAAGTACATCTTC -3'
(R):5'- TGACTTCGTGGCCAACTACAATG -3'
Posted On 2015-06-24