Incidental Mutation 'IGL01635:Abat'
ID92964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abat
Ensembl Gene ENSMUSG00000057880
Gene Name4-aminobutyrate aminotransferase
SynonymsGABA-T, 9630038C02Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01635
Quality Score
Status
Chromosome16
Chromosomal Location8513429-8621568 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8614046 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 396 (I396V)
Ref Sequence ENSEMBL: ENSMUSP00000063548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065987] [ENSMUST00000115839]
Predicted Effect probably benign
Transcript: ENSMUST00000065987
AA Change: I396V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: I396V

DomainStartEndE-ValueType
Pfam:Aminotran_3 65 496 1.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115839
AA Change: I340V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: I340V

DomainStartEndE-ValueType
Pfam:Aminotran_3 76 323 3.2e-64 PFAM
Pfam:Aminotran_3 317 390 1.8e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128459
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The encoded gene product is responsible for catabolism of gamma-aminobutyric acid (GABA), a mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. Deficiency of this encoded protein includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik T C 19: 23,559,015 Y176C probably damaging Het
Bag2 T A 1: 33,746,932 N103I possibly damaging Het
Chd1 T C 17: 17,378,596 S107P probably damaging Het
Chd3 A T 11: 69,361,250 probably benign Het
Cytip T C 2: 58,148,231 E106G probably damaging Het
Dcp1b T A 6: 119,206,537 I195N probably damaging Het
Ddhd1 C A 14: 45,629,580 V322F probably null Het
Esrrg A T 1: 188,198,600 D296V probably damaging Het
F5 A G 1: 164,207,858 K1867R probably benign Het
Gm10717 C A 9: 3,025,506 F30L possibly damaging Het
Gm10717 C A 9: 3,025,511 A32D probably damaging Het
Gm3550 A T 18: 34,737,742 M110L probably benign Het
Gstt1 G T 10: 75,794,117 T54K probably damaging Het
Ighmbp2 C T 19: 3,267,265 V536I possibly damaging Het
Mphosph8 A T 14: 56,672,546 R119W probably damaging Het
Negr1 A G 3: 156,562,292 D33G probably benign Het
Olfr168 A G 16: 19,530,095 V275A probably benign Het
Olfr77 A T 9: 19,920,484 I92L probably damaging Het
Plbd2 T C 5: 120,499,049 D116G probably damaging Het
Pold1 A T 7: 44,535,977 V733E probably damaging Het
Prorsd1 T A 11: 29,513,467 K98N probably benign Het
Rasal2 G T 1: 157,163,824 L611I probably damaging Het
Rffl G A 11: 82,812,552 R147C probably benign Het
Sdad1 A G 5: 92,297,160 M315T probably damaging Het
Shprh T A 10: 11,170,019 Y861* probably null Het
Six4 G A 12: 73,109,197 A324V probably benign Het
Stab2 T C 10: 86,981,128 D135G probably benign Het
Tada3 T C 6: 113,376,012 H12R probably benign Het
Zap70 A G 1: 36,771,157 D116G probably damaging Het
Other mutations in Abat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Abat APN 16 8600919 missense possibly damaging 0.81
IGL02024:Abat APN 16 8611136 missense probably damaging 1.00
IGL02071:Abat APN 16 8582812 missense probably damaging 1.00
R2853:Abat UTSW 16 8600968 missense probably damaging 1.00
R4839:Abat UTSW 16 8583648 intron probably benign
R4895:Abat UTSW 16 8615962 missense probably benign 0.00
R5378:Abat UTSW 16 8578277 missense probably benign 0.00
R5804:Abat UTSW 16 8578236 nonsense probably null
R6012:Abat UTSW 16 8582827 missense probably damaging 1.00
R6113:Abat UTSW 16 8572900 missense probably benign 0.01
R6122:Abat UTSW 16 8605550 missense probably benign 0.01
R6190:Abat UTSW 16 8605608 missense probably damaging 1.00
R6328:Abat UTSW 16 8602436 intron probably benign
R6382:Abat UTSW 16 8600986 missense probably benign 0.11
R6426:Abat UTSW 16 8602436 intron probably benign
R6427:Abat UTSW 16 8602436 intron probably benign
R6428:Abat UTSW 16 8602436 intron probably benign
R6738:Abat UTSW 16 8602436 intron probably benign
R7009:Abat UTSW 16 8602367 missense probably benign 0.05
R7019:Abat UTSW 16 8618531 nonsense probably null
R7310:Abat UTSW 16 8605593 missense probably null 0.01
R7499:Abat UTSW 16 8603754 critical splice donor site probably null
R8122:Abat UTSW 16 8615897 missense probably damaging 1.00
R8138:Abat UTSW 16 8600965 missense probably benign 0.05
Z1177:Abat UTSW 16 8603753 critical splice donor site probably null
Posted On2013-12-09