Incidental Mutation 'R6540:A3galt2'
ID 520672
Institutional Source Beutler Lab
Gene Symbol A3galt2
Ensembl Gene ENSMUSG00000028794
Gene Name alpha 1,3-galactosyltransferase 2
Synonyms iGb3, LOC215493
MMRRC Submission 044666-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6540 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 128653051-128663091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128660779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 143 (Y143H)
Ref Sequence ENSEMBL: ENSMUSP00000030585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030585] [ENSMUST00000106077]
AlphaFold Q3V1N9
Predicted Effect possibly damaging
Transcript: ENSMUST00000030585
AA Change: Y143H

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030585
Gene: ENSMUSG00000028794
AA Change: Y143H

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
Pfam:Glyco_transf_6 80 370 4.8e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106077
AA Change: Y112H

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101687
Gene: ENSMUSG00000028794
AA Change: Y112H

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Glyco_transf_6 49 339 1.4e-114 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adamts2 T C 11: 50,679,567 (GRCm39) V849A possibly damaging Het
Ash1l A T 3: 88,892,368 (GRCm39) T1416S probably damaging Het
Cdc5l A G 17: 45,737,570 (GRCm39) W63R probably damaging Het
Cep95 T A 11: 106,692,328 (GRCm39) D169E probably damaging Het
Col14a1 A C 15: 55,235,977 (GRCm39) N297T unknown Het
Cp T C 3: 20,018,693 (GRCm39) probably null Het
Fbxl19 G T 7: 127,347,525 (GRCm39) probably benign Het
Flnc T C 6: 29,446,376 (GRCm39) V931A possibly damaging Het
Foxj2 A G 6: 122,810,202 (GRCm39) H187R probably benign Het
Hectd4 G A 5: 121,441,634 (GRCm39) V1199I probably benign Het
Ighv7-4 A G 12: 114,186,470 (GRCm39) Y101H possibly damaging Het
Igkv10-94 T A 6: 68,681,507 (GRCm39) Y111F probably benign Het
Lin28a C T 4: 133,745,372 (GRCm39) V74M possibly damaging Het
Lrrc49 T C 9: 60,592,335 (GRCm39) N53S possibly damaging Het
Mroh9 T G 1: 162,866,541 (GRCm39) T701P possibly damaging Het
Ndst4 A T 3: 125,515,801 (GRCm39) K309* probably null Het
Nlrp9a T C 7: 26,256,817 (GRCm39) V145A possibly damaging Het
Or2l5 T C 16: 19,333,571 (GRCm39) I272V probably benign Het
Ovgp1 A T 3: 105,893,897 (GRCm39) K557* probably null Het
Pde4b T C 4: 102,459,073 (GRCm39) L546P probably damaging Het
Pkd1 G A 17: 24,794,951 (GRCm39) V2213M probably damaging Het
Plekhh1 A G 12: 79,111,263 (GRCm39) I542V probably benign Het
Ppan A G 9: 20,802,506 (GRCm39) probably null Het
Prdm15 A T 16: 97,637,005 (GRCm39) V104E probably benign Het
Semp2l2a A C 8: 13,887,573 (GRCm39) S173A probably benign Het
Sik3 A G 9: 46,123,351 (GRCm39) H1050R probably benign Het
Slc35d3 A G 10: 19,725,086 (GRCm39) F257L possibly damaging Het
Tfip11 A G 5: 112,482,263 (GRCm39) probably null Het
Tmem132d A G 5: 128,345,596 (GRCm39) S309P possibly damaging Het
Tmem87a T C 2: 120,234,400 (GRCm39) I48V probably benign Het
V1rd19 T A 7: 23,703,056 (GRCm39) L174* probably null Het
Zfp729a A G 13: 67,767,767 (GRCm39) C821R possibly damaging Het
Zfp970 C A 2: 177,167,388 (GRCm39) H321N probably damaging Het
Zzef1 T C 11: 72,804,055 (GRCm39) L2599P probably damaging Het
Other mutations in A3galt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:A3galt2 APN 4 128,655,851 (GRCm39) missense probably damaging 1.00
IGL02691:A3galt2 APN 4 128,655,457 (GRCm39) missense probably benign 0.01
IGL02826:A3galt2 APN 4 128,655,302 (GRCm39) splice site probably benign
IGL02839:A3galt2 APN 4 128,653,816 (GRCm39) critical splice donor site probably null
R0234:A3galt2 UTSW 4 128,660,941 (GRCm39) missense possibly damaging 0.59
R0234:A3galt2 UTSW 4 128,660,941 (GRCm39) missense possibly damaging 0.59
R0970:A3galt2 UTSW 4 128,661,364 (GRCm39) missense probably damaging 1.00
R1807:A3galt2 UTSW 4 128,661,394 (GRCm39) missense probably benign 0.00
R3498:A3galt2 UTSW 4 128,649,350 (GRCm39) missense probably benign
R3799:A3galt2 UTSW 4 128,660,863 (GRCm39) missense probably damaging 1.00
R3891:A3galt2 UTSW 4 128,655,847 (GRCm39) missense probably damaging 1.00
R4810:A3galt2 UTSW 4 128,649,356 (GRCm39) critical splice donor site probably null
R5133:A3galt2 UTSW 4 128,655,934 (GRCm39) missense probably damaging 1.00
R8323:A3galt2 UTSW 4 128,649,351 (GRCm39) missense probably benign
R8989:A3galt2 UTSW 4 128,655,231 (GRCm39) missense probably damaging 1.00
R9384:A3galt2 UTSW 4 128,655,851 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATATTCAAGGGAAACAGGGC -3'
(R):5'- CACAAAGTCAGCTTCTTGGCC -3'

Sequencing Primer
(F):5'- GCAGAGCAATGCATCCAGGC -3'
(R):5'- ATGCGTGCCATGGACAC -3'
Posted On 2018-06-06