Incidental Mutation 'IGL01827:A4galt'
ID 154695
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01827
Quality Score
Status
Chromosome 15
Chromosomal Location 83110923-83135930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83112135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 216 (I216N)
Ref Sequence ENSEMBL: ENSMUSP00000129719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049530] [ENSMUST00000164614] [ENSMUST00000229687]
AlphaFold Q67BJ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000049530
AA Change: I216N

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000057999
Gene: ENSMUSG00000047878
AA Change: I216N

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 possibly damaging
Transcript: ENSMUST00000164614
AA Change: I216N

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129719
Gene: ENSMUSG00000047878
AA Change: I216N

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
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
Catsperb A C 12: 101,557,799 (GRCm39) Y790S probably benign Het
Cfap161 T C 7: 83,442,648 (GRCm39) Q55R possibly damaging Het
Col6a3 T C 1: 90,730,041 (GRCm39) D1148G probably damaging Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Hrh3 T C 2: 179,745,739 (GRCm39) N69S possibly damaging Het
Lipn A T 19: 34,046,880 (GRCm39) I61F probably damaging Het
Lrwd1 C A 5: 136,160,372 (GRCm39) E321* probably null Het
Ltk C T 2: 119,583,219 (GRCm39) V343M probably damaging Het
Mafb C T 2: 160,208,398 (GRCm39) V67M probably damaging Het
Nip7 A T 8: 107,783,723 (GRCm39) probably null Het
Polrmt T C 10: 79,573,954 (GRCm39) T964A probably damaging Het
Pygm A G 19: 6,440,407 (GRCm39) T484A probably damaging Het
Snx9 G A 17: 5,937,287 (GRCm39) D10N probably benign Het
Tek A C 4: 94,627,882 (GRCm39) D2A probably benign Het
Ttn T C 2: 76,624,828 (GRCm39) D15250G probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Vmn2r74 T A 7: 85,606,800 (GRCm39) H182L probably benign Het
Zgrf1 T C 3: 127,409,930 (GRCm39) V1739A probably benign Het
Other mutations in A4galt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:A4galt APN 15 83,112,526 (GRCm39) missense probably damaging 0.99
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
R4331:A4galt UTSW 15 83,111,880 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-02-04