Incidental Mutation 'IGL02826:A3galt2'
ID 361233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A3galt2
Ensembl Gene ENSMUSG00000028794
Gene Name alpha 1,3-galactosyltransferase 2 (isoglobotriaosylceramide synthase)
Synonyms iGb3, LOC215493
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02826
Quality Score
Chromosome 4
Chromosomal Location 128755364-128769298 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 128761509 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030585] [ENSMUST00000106077]
AlphaFold Q3V1N9
Predicted Effect probably benign
Transcript: ENSMUST00000030585
SMART Domains Protein: ENSMUSP00000030585
Gene: ENSMUSG00000028794

transmembrane domain 43 65 N/A INTRINSIC
Pfam:Glyco_transf_6 80 370 4.8e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106077
SMART Domains Protein: ENSMUSP00000101687
Gene: ENSMUSG00000028794

transmembrane domain 12 34 N/A INTRINSIC
Pfam:Glyco_transf_6 49 339 1.4e-114 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable alterations in the development and function of invariant natural killer T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik A C 16: 90,926,062 (GRCm38) D261E probably benign Het
1810041L15Rik A G 15: 84,420,129 (GRCm38) probably benign Het
4930404N11Rik A G 10: 81,364,736 (GRCm38) probably benign Het
Alk C T 17: 71,869,536 (GRCm38) G1591D probably damaging Het
Angptl2 T C 2: 33,228,315 (GRCm38) S34P probably benign Het
Atp2a2 A G 5: 122,489,291 (GRCm38) V137A probably benign Het
Atp8b5 A G 4: 43,366,770 (GRCm38) M845V probably damaging Het
Camk1d A G 2: 5,565,760 (GRCm38) V30A possibly damaging Het
Ceacam19 G A 7: 19,882,610 (GRCm38) T193I probably benign Het
Chst15 T A 7: 132,266,746 (GRCm38) D315V probably damaging Het
Cux1 G T 5: 136,308,003 (GRCm38) P885Q probably damaging Het
Cyth1 C T 11: 118,185,481 (GRCm38) E88K possibly damaging Het
Dido1 A G 2: 180,683,958 (GRCm38) V479A probably benign Het
Dlc1 G T 8: 36,570,275 (GRCm38) probably benign Het
H2-Ab1 G A 17: 34,264,911 (GRCm38) R82Q probably damaging Het
Hps6 T A 19: 46,006,041 (GRCm38) *806K probably null Het
Ilf3 T C 9: 21,398,044 (GRCm38) S486P probably benign Het
Kdm1b C A 13: 47,080,467 (GRCm38) T759K probably damaging Het
Kirrel C A 3: 87,088,485 (GRCm38) V381F probably damaging Het
Kmt2b A T 7: 30,577,144 (GRCm38) V1701E probably damaging Het
Lrmda T C 14: 22,828,737 (GRCm38) Y100H probably damaging Het
Mastl T C 2: 23,145,409 (GRCm38) I169V probably damaging Het
Mroh2b A G 15: 4,962,148 (GRCm38) E1576G probably damaging Het
Nek3 A T 8: 22,160,368 (GRCm38) probably null Het
Nipal3 G T 4: 135,468,550 (GRCm38) Y247* probably null Het
Nt5e A C 9: 88,355,705 (GRCm38) K229N probably damaging Het
Olfr237-ps1 A G 6: 43,153,577 (GRCm38) I91V possibly damaging Het
Olfr974 G T 9: 39,942,958 (GRCm38) G233C probably damaging Het
Opa1 A G 16: 29,610,887 (GRCm38) M290V probably null Het
Parp2 T A 14: 50,815,415 (GRCm38) I155K probably benign Het
Pde4dip G T 3: 97,767,087 (GRCm38) A171E probably damaging Het
Prom2 C T 2: 127,531,116 (GRCm38) E678K probably benign Het
Rab12 A G 17: 66,498,116 (GRCm38) probably benign Het
Rgs8 A T 1: 153,670,799 (GRCm38) T13S probably damaging Het
Setd3 A G 12: 108,112,124 (GRCm38) probably benign Het
Slx4ip G A 2: 137,004,973 (GRCm38) V53I probably damaging Het
Stil A G 4: 115,024,098 (GRCm38) D613G probably benign Het
Tjp3 T A 10: 81,273,689 (GRCm38) S858C probably damaging Het
Tmem215 A G 4: 40,474,632 (GRCm38) *236W probably null Het
Ttbk1 A G 17: 46,470,660 (GRCm38) V389A probably benign Het
Wdfy4 A G 14: 32,971,750 (GRCm38) F2706S possibly damaging Het
Xpo4 C A 14: 57,629,420 (GRCm38) V222L possibly damaging Het
Zfc3h1 A G 10: 115,400,904 (GRCm38) S428G probably benign Het
Zfp286 T C 11: 62,787,960 (GRCm38) Q47R probably damaging Het
Zfp318 A G 17: 46,398,754 (GRCm38) K468E probably damaging Het
Other mutations in A3galt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:A3galt2 APN 4 128,762,058 (GRCm38) missense probably damaging 1.00
IGL02691:A3galt2 APN 4 128,761,664 (GRCm38) missense probably benign 0.01
IGL02839:A3galt2 APN 4 128,760,023 (GRCm38) critical splice donor site probably null
R0234:A3galt2 UTSW 4 128,767,148 (GRCm38) missense possibly damaging 0.59
R0234:A3galt2 UTSW 4 128,767,148 (GRCm38) missense possibly damaging 0.59
R0970:A3galt2 UTSW 4 128,767,571 (GRCm38) missense probably damaging 1.00
R1807:A3galt2 UTSW 4 128,767,601 (GRCm38) missense probably benign 0.00
R3498:A3galt2 UTSW 4 128,755,557 (GRCm38) missense probably benign
R3799:A3galt2 UTSW 4 128,767,070 (GRCm38) missense probably damaging 1.00
R3891:A3galt2 UTSW 4 128,762,054 (GRCm38) missense probably damaging 1.00
R4810:A3galt2 UTSW 4 128,755,563 (GRCm38) critical splice donor site probably null
R5133:A3galt2 UTSW 4 128,762,141 (GRCm38) missense probably damaging 1.00
R6540:A3galt2 UTSW 4 128,766,986 (GRCm38) missense possibly damaging 0.78
R8323:A3galt2 UTSW 4 128,755,558 (GRCm38) missense probably benign
R8989:A3galt2 UTSW 4 128,761,438 (GRCm38) missense probably damaging 1.00
R9384:A3galt2 UTSW 4 128,762,058 (GRCm38) missense probably damaging 1.00
Posted On 2015-12-18