Incidental Mutation 'IGL02745:A4galt'
ID 306117
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 # IGL02745
Quality Score
Status
Chromosome 15
Chromosomal Location 83110923-83135930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83112282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 167 (E167G)
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: E167G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057999
Gene: ENSMUSG00000047878
AA Change: E167G

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: E167G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129719
Gene: ENSMUSG00000047878
AA Change: E167G

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 A G 19: 20,614,028 (GRCm39) probably benign Het
Ankrd44 T C 1: 54,805,950 (GRCm39) H152R probably damaging Het
Bpifb4 T A 2: 153,789,141 (GRCm39) L316Q probably damaging Het
C2cd5 A T 6: 142,987,256 (GRCm39) L155I probably benign Het
Chrdl2 T A 7: 99,670,170 (GRCm39) C98S probably damaging Het
Clnk A G 5: 38,893,662 (GRCm39) S232P probably benign Het
Csf3 A G 11: 98,593,303 (GRCm39) D140G probably damaging Het
Dnah7b T A 1: 46,234,189 (GRCm39) probably benign Het
Fetub T C 16: 22,756,676 (GRCm39) V259A probably damaging Het
Gga2 G T 7: 121,607,592 (GRCm39) R108S probably damaging Het
Hip1r C A 5: 124,129,002 (GRCm39) probably null Het
Hsd17b3 A G 13: 64,234,990 (GRCm39) F62L probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Man1a C T 10: 53,853,206 (GRCm39) R304Q probably damaging Het
Med17 A G 9: 15,176,642 (GRCm39) probably benign Het
Mrgprb4 T C 7: 47,848,106 (GRCm39) Y274C probably damaging Het
Myh8 C T 11: 67,188,327 (GRCm39) T996I possibly damaging Het
Niban3 G T 8: 72,057,682 (GRCm39) probably null Het
Nlrp4e T A 7: 23,020,716 (GRCm39) L401Q probably damaging Het
Oas1h G A 5: 120,999,542 (GRCm39) R9Q probably benign Het
Or4c111 A G 2: 88,844,232 (GRCm39) Y59H probably damaging Het
Or4d10b C T 19: 12,036,565 (GRCm39) V184I probably benign Het
Or8g51 T C 9: 38,609,494 (GRCm39) H56R probably damaging Het
Otor A G 2: 142,923,076 (GRCm39) D122G possibly damaging Het
Pcdh18 T A 3: 49,710,340 (GRCm39) Q325L probably damaging Het
Ppfibp1 T C 6: 146,923,852 (GRCm39) probably benign Het
Pramel16 A T 4: 143,677,294 (GRCm39) L95Q probably damaging Het
Prlr T A 15: 10,328,680 (GRCm39) I385N possibly damaging Het
Rap1gds1 A G 3: 138,662,002 (GRCm39) V418A probably damaging Het
Rdh1 A T 10: 127,601,288 (GRCm39) T279S probably benign Het
Slc17a3 C A 13: 24,026,469 (GRCm39) Q13K probably benign Het
Slc22a20 T C 19: 6,022,901 (GRCm39) N414S probably damaging Het
Slc4a1 C A 11: 102,247,093 (GRCm39) C498F probably damaging Het
Sp8 G A 12: 118,813,326 (GRCm39) G394S probably damaging Het
Ssh2 C T 11: 77,346,233 (GRCm39) T1406I probably damaging Het
Stra6 T A 9: 58,059,321 (GRCm39) D561E probably damaging Het
Stxbp5l G A 16: 37,007,016 (GRCm39) Q726* probably null Het
Synpo2 G A 3: 122,907,261 (GRCm39) T685I probably damaging Het
Tasor2 A T 13: 3,635,140 (GRCm39) S556T probably benign Het
Ttc27 A G 17: 75,046,728 (GRCm39) D263G probably benign Het
Ttn G A 2: 76,594,332 (GRCm39) P18793S possibly damaging Het
Vmn2r109 A G 17: 20,761,512 (GRCm39) V615A probably damaging Het
Vmn2r76 T G 7: 85,879,495 (GRCm39) K268N probably benign Het
Zeb2 A G 2: 44,884,487 (GRCm39) probably benign Het
Zfp286 C A 11: 62,671,700 (GRCm39) K124N 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
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 2015-04-16