Incidental Mutation 'R4895:Abat'
ID 377594
Institutional Source Beutler Lab
Gene Symbol Abat
Ensembl Gene ENSMUSG00000057880
Gene Name 4-aminobutyrate aminotransferase
Synonyms 9630038C02Rik, GABA-T
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 8331293-8439432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8433826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 392 (A392T)
Ref Sequence ENSEMBL: ENSMUSP00000111505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065987] [ENSMUST00000115839]
AlphaFold P61922
Predicted Effect probably benign
Transcript: ENSMUST00000065987
AA Change: A448T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: A448T

DomainStartEndE-ValueType
Pfam:Aminotran_3 65 496 1.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115839
AA Change: A392T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: A392T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null Het
Other mutations in Abat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01635:Abat APN 16 8,431,910 (GRCm39) missense probably benign 0.04
IGL01642:Abat APN 16 8,418,783 (GRCm39) missense possibly damaging 0.81
IGL02024:Abat APN 16 8,429,000 (GRCm39) missense probably damaging 1.00
IGL02071:Abat APN 16 8,400,676 (GRCm39) missense probably damaging 1.00
R2853:Abat UTSW 16 8,418,832 (GRCm39) missense probably damaging 1.00
R4839:Abat UTSW 16 8,401,512 (GRCm39) intron probably benign
R5378:Abat UTSW 16 8,396,141 (GRCm39) missense probably benign 0.00
R5804:Abat UTSW 16 8,396,100 (GRCm39) nonsense probably null
R6012:Abat UTSW 16 8,400,691 (GRCm39) missense probably damaging 1.00
R6113:Abat UTSW 16 8,390,764 (GRCm39) missense probably benign 0.01
R6122:Abat UTSW 16 8,423,414 (GRCm39) missense probably benign 0.01
R6190:Abat UTSW 16 8,423,472 (GRCm39) missense probably damaging 1.00
R6328:Abat UTSW 16 8,420,300 (GRCm39) intron probably benign
R6382:Abat UTSW 16 8,418,850 (GRCm39) missense probably benign 0.11
R6426:Abat UTSW 16 8,420,300 (GRCm39) intron probably benign
R6427:Abat UTSW 16 8,420,300 (GRCm39) intron probably benign
R6428:Abat UTSW 16 8,420,300 (GRCm39) intron probably benign
R6738:Abat UTSW 16 8,420,300 (GRCm39) intron probably benign
R7009:Abat UTSW 16 8,420,231 (GRCm39) missense probably benign 0.05
R7019:Abat UTSW 16 8,436,395 (GRCm39) nonsense probably null
R7310:Abat UTSW 16 8,423,457 (GRCm39) missense probably null 0.01
R7499:Abat UTSW 16 8,421,618 (GRCm39) critical splice donor site probably null
R8122:Abat UTSW 16 8,433,761 (GRCm39) missense probably damaging 1.00
R8138:Abat UTSW 16 8,418,829 (GRCm39) missense probably benign 0.05
R8948:Abat UTSW 16 8,418,805 (GRCm39) missense possibly damaging 0.95
R8962:Abat UTSW 16 8,396,166 (GRCm39) missense probably damaging 0.98
R9323:Abat UTSW 16 8,420,235 (GRCm39) nonsense probably null
R9760:Abat UTSW 16 8,399,794 (GRCm39) critical splice donor site probably null
Z1177:Abat UTSW 16 8,421,617 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGGGGCTGTAGACTGAGACTT -3'
(R):5'- CCCGCAACAAGAGAGTGGAT -3'

Sequencing Primer
(F):5'- GCTGTAGACTGAGACTTGACCAC -3'
(R):5'- AGAAGTCTCTCCTGAGCTAATGG -3'
Posted On 2016-03-17