Incidental Mutation 'IGL03132:Gm2a'
ID410366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm2a
Ensembl Gene ENSMUSG00000000594
Gene NameGM2 ganglioside activator protein
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03132
Quality Score
Status
Chromosome11
Chromosomal Location55098115-55113029 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 55103648 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 48 (I48N)
Ref Sequence ENSEMBL: ENSMUSP00000000608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000608]
PDB Structure Crystal Structure of mouse GM2- activator Protein [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000000608
AA Change: I48N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000608
Gene: ENSMUSG00000000594
AA Change: I48N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:E1_DerP2_DerF2 33 190 5.6e-37 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal accumulation of glycolipid and ganglioside in various brain regions with impaired balance, coordination, and learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 G A 6: 88,838,959 R177C probably benign Het
Adam21 C A 12: 81,560,374 G205* probably null Het
Baz2b T A 2: 59,907,753 probably benign Het
Col6a3 C T 1: 90,803,893 G939D probably damaging Het
Csf1r A G 18: 61,128,099 E749G probably benign Het
Dnm3 C T 1: 162,011,105 probably null Het
Dsg3 A G 18: 20,524,596 D241G probably damaging Het
Dst T C 1: 34,256,641 S6015P probably benign Het
Dvl2 T C 11: 70,005,688 S183P probably benign Het
Exoc6b T C 6: 84,791,264 N699S possibly damaging Het
Fat2 T C 11: 55,253,920 R4043G probably benign Het
Gbp9 T A 5: 105,084,953 T278S possibly damaging Het
Gorasp2 T C 2: 70,684,035 V232A probably benign Het
Gpa33 G A 1: 166,152,649 D94N probably benign Het
Il1rap A T 16: 26,680,119 S123C probably damaging Het
Kctd17 T C 15: 78,435,687 S102P probably damaging Het
Lamb1 A G 12: 31,300,334 probably null Het
Mfsd1 T A 3: 67,587,940 I131K possibly damaging Het
Pkhd1l1 G A 15: 44,574,617 C3576Y probably damaging Het
Pla2g4a A T 1: 149,902,284 probably benign Het
Ptpn11 T A 5: 121,134,815 D575V possibly damaging Het
Reck A T 4: 43,938,898 R755* probably null Het
Scgb2b21 A G 7: 33,519,874 V35A possibly damaging Het
Srpr G A 9: 35,214,278 probably null Het
Stk11ip T C 1: 75,536,089 S1025P probably benign Het
Tmprss9 G A 10: 80,894,865 V742M probably damaging Het
Trh T C 6: 92,243,774 T36A probably benign Het
Trim35 A G 14: 66,309,146 E454G probably damaging Het
Vmn2r99 C T 17: 19,378,223 Q170* probably null Het
Other mutations in Gm2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0550:Gm2a UTSW 11 55103665 nonsense probably null
R6829:Gm2a UTSW 11 55103750 critical splice donor site probably null
Posted On2016-08-02