Incidental Mutation 'IGL02839:A3galt2'
ID361799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A3galt2
Ensembl Gene ENSMUSG00000028794
Gene Namealpha 1,3-galactosyltransferase 2 (isoglobotriaosylceramide synthase)
SynonymsiGb3, LOC215493
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02839
Quality Score
Status
Chromosome4
Chromosomal Location128755364-128769298 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 128760023 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030585] [ENSMUST00000106077]
Predicted Effect probably null
Transcript: ENSMUST00000030585
SMART Domains Protein: ENSMUSP00000030585
Gene: ENSMUSG00000028794

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
SMART Domains Protein: ENSMUSP00000101687
Gene: ENSMUSG00000028794

DomainStartEndE-ValueType
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 T C 6: 90,569,875 F387L possibly damaging Het
Aldh5a1 A G 13: 24,911,620 S505P probably damaging Het
Aox1 A G 1: 58,068,784 T642A probably benign Het
Atg16l2 T C 7: 101,293,397 I364V probably damaging Het
Atp2c2 T C 8: 119,749,120 V584A possibly damaging Het
Axl A T 7: 25,766,791 probably null Het
Camta1 T C 4: 151,144,512 Q621R probably damaging Het
Cdca4 A T 12: 112,821,891 D72E probably damaging Het
Col1a2 T A 6: 4,538,748 Y1223N unknown Het
Drc1 T C 5: 30,350,423 M263T probably benign Het
Eef1akmt1 A T 14: 57,549,781 Y213N probably damaging Het
Fat3 C A 9: 15,919,170 D4343Y probably damaging Het
Gm813 A G 16: 58,615,847 Y38H probably damaging Het
Gucy2d T C 7: 98,443,989 V191A possibly damaging Het
Hdac5 A G 11: 102,204,908 L355P probably damaging Het
Hdgfl3 C T 7: 81,900,412 G58D probably damaging Het
Hnrnpul1 A G 7: 25,733,242 probably null Het
Klf12 A T 14: 99,900,239 C290* probably null Het
Mtmr3 A T 11: 4,487,994 I820N probably benign Het
Myo7a A T 7: 98,091,122 L555Q probably damaging Het
Nrsn1 A G 13: 25,253,544 C134R probably damaging Het
Olfr1094 T A 2: 86,829,368 N205K probably benign Het
Olfr1205 G A 2: 88,831,648 C177Y probably damaging Het
Olfr159 T A 4: 43,770,943 K23* probably null Het
Olfr206 A T 16: 59,345,390 C104S probably benign Het
Olfr59 T A 11: 74,289,370 C241* probably null Het
Olfr681 A C 7: 105,122,356 T300P probably damaging Het
Pik3r6 A G 11: 68,526,412 E60G probably damaging Het
Pkhd1l1 T A 15: 44,529,543 I1758N probably damaging Het
Poc1b A G 10: 99,144,598 probably benign Het
Rnf103 G T 6: 71,509,705 R440L probably benign Het
Siglec1 A G 2: 131,084,932 V237A possibly damaging Het
Skiv2l T C 17: 34,847,798 T165A probably benign Het
Slit3 A G 11: 35,649,047 N762S possibly damaging Het
Trank1 A G 9: 111,364,756 N616S probably damaging Het
Trav14d-3-dv8 C A 14: 53,078,790 Q36K possibly damaging Het
Ttll6 T C 11: 96,158,820 V788A probably damaging Het
Ube4b A T 4: 149,368,399 S357T probably damaging Het
Unc80 A G 1: 66,671,675 H2701R possibly damaging Het
Wdfy3 A G 5: 101,968,920 S85P probably damaging Het
Other mutations in A3galt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:A3galt2 APN 4 128762058 missense probably damaging 1.00
IGL02691:A3galt2 APN 4 128761664 missense probably benign 0.01
IGL02826:A3galt2 APN 4 128761509 splice site probably benign
R0234:A3galt2 UTSW 4 128767148 missense possibly damaging 0.59
R0234:A3galt2 UTSW 4 128767148 missense possibly damaging 0.59
R0970:A3galt2 UTSW 4 128767571 missense probably damaging 1.00
R1807:A3galt2 UTSW 4 128767601 missense probably benign 0.00
R3498:A3galt2 UTSW 4 128755557 missense probably benign
R3799:A3galt2 UTSW 4 128767070 missense probably damaging 1.00
R3891:A3galt2 UTSW 4 128762054 missense probably damaging 1.00
R4810:A3galt2 UTSW 4 128755563 critical splice donor site probably null
R5133:A3galt2 UTSW 4 128762141 missense probably damaging 1.00
R6540:A3galt2 UTSW 4 128766986 missense possibly damaging 0.78
Posted On2015-12-18