Incidental Mutation 'R4712:A4galt'
ID 353329
Institutional Source Beutler Lab
Gene Symbol A4galt
Ensembl Gene ENSMUSG00000047878
Gene Name alpha 1,4-galactosyltransferase
Synonyms Gb3 synthase
MMRRC Submission 041981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4712 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 83110923-83135930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 83111810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 324 (N324K)
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: N324K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057999
Gene: ENSMUSG00000047878
AA Change: N324K

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: N324K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129719
Gene: ENSMUSG00000047878
AA Change: N324K

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
Meta Mutation Damage Score 0.8321 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl1 A G 3: 107,574,547 (GRCm39) probably benign Het
Atrnl1 T A 19: 57,641,382 (GRCm39) N343K probably benign Het
Batf2 C A 19: 6,221,357 (GRCm39) Q56K probably benign Het
Cfh A T 1: 140,036,274 (GRCm39) V691D probably damaging Het
Chst10 T C 1: 38,904,922 (GRCm39) Y257C probably damaging Het
Dlg5 A T 14: 24,228,051 (GRCm39) L290Q possibly damaging Het
Dnah2 T A 11: 69,407,416 (GRCm39) T456S possibly damaging Het
Dnah6 T C 6: 73,001,995 (GRCm39) probably null Het
Efhb T C 17: 53,758,697 (GRCm39) K313R probably damaging Het
Eprs1 T A 1: 185,160,305 (GRCm39) N1500K probably benign Het
Fbn1 T C 2: 125,183,236 (GRCm39) T1748A probably benign Het
Gfra2 T A 14: 71,163,377 (GRCm39) L87H probably damaging Het
Gfral T A 9: 76,100,727 (GRCm39) Y237F possibly damaging Het
Gpr137b T C 13: 13,533,974 (GRCm39) N361D probably benign Het
Gsdmc G T 15: 63,651,386 (GRCm39) T272N probably benign Het
Hspe1 T A 1: 55,128,269 (GRCm39) S21R probably benign Het
Kctd16 G T 18: 40,390,233 (GRCm39) probably benign Het
Kif21a A T 15: 90,868,958 (GRCm39) I483N probably damaging Het
Kif4-ps T C 12: 101,112,534 (GRCm39) noncoding transcript Het
Lpp T C 16: 24,580,407 (GRCm39) V166A possibly damaging Het
Lrp2 A C 2: 69,336,895 (GRCm39) D1292E probably damaging Het
Manba T C 3: 135,250,575 (GRCm39) Y401H probably damaging Het
Msh2 T G 17: 87,985,813 (GRCm39) probably benign Het
Myef2 A T 2: 124,930,757 (GRCm39) probably benign Het
Ncor1 T A 11: 62,235,660 (GRCm39) Q598L probably damaging Het
Obox3 A G 7: 15,360,764 (GRCm39) V125A probably benign Het
Or1n1 A T 2: 36,750,381 (GRCm39) probably null Het
Or2b4 T A 17: 38,116,591 (GRCm39) L185* probably null Het
Or9k7 G A 10: 130,046,291 (GRCm39) T236I possibly damaging Het
Pcdh9 C A 14: 94,126,067 (GRCm39) L34F probably damaging Het
Pcdha3 A T 18: 37,079,560 (GRCm39) I101F probably damaging Het
Pced1b A G 15: 97,282,675 (GRCm39) E238G probably benign Het
Pla2r1 A T 2: 60,258,994 (GRCm39) N1131K probably damaging Het
Prmt1 A T 7: 44,631,060 (GRCm39) S99R probably damaging Het
Qng1 G A 13: 58,529,617 (GRCm39) R332C probably benign Het
Rbp3 T C 14: 33,682,615 (GRCm39) S1116P probably damaging Het
Rhobtb2 T C 14: 70,037,160 (GRCm39) D88G probably damaging Het
Rngtt A G 4: 33,379,394 (GRCm39) E432G probably benign Het
Sh3rf1 A G 8: 61,814,793 (GRCm39) T451A probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Siva1 T A 12: 112,613,336 (GRCm39) D61E probably benign Het
Skor1 A C 9: 63,046,855 (GRCm39) probably null Het
Slc20a1 A G 2: 129,041,611 (GRCm39) probably benign Het
Slc2a7 A G 4: 150,252,926 (GRCm39) E522G probably benign Het
Tmprss7 A T 16: 45,511,123 (GRCm39) I85N probably damaging Het
Tpx2 T A 2: 152,726,958 (GRCm39) D408E probably damaging Het
Ulk4 A T 9: 121,073,436 (GRCm39) I551N probably benign Het
Zfat A T 15: 67,982,324 (GRCm39) probably null Het
Zfp101 C A 17: 33,613,457 (GRCm39) probably null 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
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'- GCTTGGTCTCCTCTAAAGTCAAC -3'
(R):5'- GGTGTTCCATCCAAAGCCTG -3'

Sequencing Primer
(F):5'- TTGGTCTCCTCTAAAGTCAACAGCAG -3'
(R):5'- CCTGGAAAAGAGCCATGCTTGC -3'
Posted On 2015-10-21