Incidental Mutation 'R8479:A4galt'
ID 657450
Institutional Source Beutler Lab
Gene Symbol A4galt
Ensembl Gene ENSMUSG00000047878
Gene Name alpha 1,4-galactosyltransferase
Synonyms Gb3 synthase
MMRRC Submission 067923-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8479 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 83110923-83135930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83112061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 241 (H241Y)
Ref Sequence ENSEMBL: ENSMUSP00000129719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049530] [ENSMUST00000164614] [ENSMUST00000229687]
AlphaFold Q67BJ4
Predicted Effect probably benign
Transcript: ENSMUST00000049530
AA Change: H241Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057999
Gene: ENSMUSG00000047878
AA Change: H241Y

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 benign
Transcript: ENSMUST00000164614
AA Change: H241Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129719
Gene: ENSMUSG00000047878
AA Change: H241Y

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 probably benign
Transcript: ENSMUST00000229687
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (52/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,581,986 (GRCm39) G29D probably benign Het
Ano2 T C 6: 125,689,123 (GRCm39) S52P possibly damaging Het
Atp11a A T 8: 12,892,932 (GRCm39) E641V possibly damaging Het
Atp6v1d T C 12: 78,896,520 (GRCm39) T116A probably benign Het
Cacna2d2 T C 9: 107,403,596 (GRCm39) probably null Het
Cd109 T A 9: 78,574,628 (GRCm39) Y537* probably null Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Celsr2 T A 3: 108,306,218 (GRCm39) T2029S probably benign Het
Cntnap2 C T 6: 46,736,707 (GRCm39) A711V probably benign Het
Col18a1 T C 10: 76,916,988 (GRCm39) I114V unknown Het
Crhbp A G 13: 95,578,632 (GRCm39) V163A possibly damaging Het
Crmp1 C A 5: 37,441,502 (GRCm39) P414Q possibly damaging Het
Cse1l G A 2: 166,763,893 (GRCm39) E78K possibly damaging Het
Ctnna2 A G 6: 77,735,573 (GRCm39) V35A probably damaging Het
Ddx1 T A 12: 13,270,749 (GRCm39) N654I probably damaging Het
Dido1 A T 2: 180,315,022 (GRCm39) probably null Het
Dmtf1 C T 5: 9,170,428 (GRCm39) V630I probably damaging Het
Ercc6 T C 14: 32,248,363 (GRCm39) S305P probably benign Het
Ercc6l2 T A 13: 63,972,629 (GRCm39) S37T possibly damaging Het
Ess2 T C 16: 17,728,805 (GRCm39) probably null Het
Fnip2 A G 3: 79,419,862 (GRCm39) M138T probably damaging Het
Galnt9 T C 5: 110,692,617 (GRCm39) V17A probably benign Het
Gm7324 T C 14: 43,952,220 (GRCm39) S288P probably benign Het
Gucy2e G A 11: 69,123,789 (GRCm39) A370V probably benign Het
H2-T13 G A 17: 36,395,111 (GRCm39) A2V probably damaging Het
Ift57 T C 16: 49,522,263 (GRCm39) F2L probably damaging Het
Ipo7 G A 7: 109,638,452 (GRCm39) V240I probably benign Het
Lrrc4c A G 2: 97,459,977 (GRCm39) Y201C probably damaging Het
Ly6g2 A G 15: 75,089,626 (GRCm39) T45A probably damaging Het
Mapkap1 A T 2: 34,471,302 (GRCm39) S389C probably damaging Het
Met G T 6: 17,491,746 (GRCm39) probably null Het
Misp T C 10: 79,663,750 (GRCm39) F575L possibly damaging Het
Mtmr11 T C 3: 96,071,051 (GRCm39) L136P probably damaging Het
Muc4 C T 16: 32,574,799 (GRCm39) T1128M possibly damaging Het
Nfyc A T 4: 120,626,089 (GRCm39) V70E probably damaging Het
Nphp4 T C 4: 152,608,747 (GRCm39) S452P probably benign Het
Oasl2 T A 5: 115,035,852 (GRCm39) F43I probably damaging Het
Or10ak11 A G 4: 118,687,212 (GRCm39) C141R probably damaging Het
Or5g25 A G 2: 85,478,447 (GRCm39) S73P probably damaging Het
Pros1 G T 16: 62,728,102 (GRCm39) G269W probably damaging Het
Rif1 A C 2: 52,002,563 (GRCm39) S2006R possibly damaging Het
Ror2 G T 13: 53,271,400 (GRCm39) N306K probably damaging Het
Rragd C T 4: 33,018,734 (GRCm39) A379V probably benign Het
Slc10a2 C T 8: 5,148,443 (GRCm39) probably null Het
Susd3 C T 13: 49,390,952 (GRCm39) G113S probably benign Het
Tbc1d19 T A 5: 54,041,031 (GRCm39) M371K possibly damaging Het
Tnn C A 1: 159,950,397 (GRCm39) R736S probably benign Het
Trio T C 15: 27,901,286 (GRCm39) T323A probably benign Het
Ubqln1 G A 13: 58,339,653 (GRCm39) P324S probably benign Het
Uspl1 T C 5: 149,152,004 (GRCm39) L1068P probably damaging Het
Vmn2r86 A T 10: 130,282,735 (GRCm39) I627N probably damaging Het
Wdr35 C A 12: 9,035,985 (GRCm39) T252K probably benign Het
Zfp62 T C 11: 49,107,319 (GRCm39) I470T probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CGGGGCTGATGTCTTCAAAG -3'
(R):5'- TACCAGTTGCCCGTACTGTCTG -3'

Sequencing Primer
(F):5'- AAAGTATTTCTTCCAGTTCTGCCAGG -3'
(R):5'- TGATGCTTCCAGGATCGCAC -3'
Posted On 2021-01-18