Incidental Mutation 'R5378:Abat'
ID 425717
Institutional Source Beutler Lab
Gene Symbol Abat
Ensembl Gene ENSMUSG00000057880
Gene Name 4-aminobutyrate aminotransferase
Synonyms 9630038C02Rik, GABA-T
MMRRC Submission 042953-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5378 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 8331293-8439432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8396141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 39 (F39L)
Ref Sequence ENSEMBL: ENSMUSP00000111504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065987] [ENSMUST00000115838] [ENSMUST00000115839] [ENSMUST00000138987]
AlphaFold P61922
Predicted Effect probably benign
Transcript: ENSMUST00000065987
AA Change: F39L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: F39L

DomainStartEndE-ValueType
Pfam:Aminotran_3 65 496 1.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115838
AA Change: F39L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000111504
Gene: ENSMUSG00000057880
AA Change: F39L

DomainStartEndE-ValueType
Pfam:Aminotran_3 76 186 5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115839
AA Change: F39L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: F39L

DomainStartEndE-ValueType
Pfam:Aminotran_3 76 323 3.2e-64 PFAM
Pfam:Aminotran_3 317 390 1.8e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138987
AA Change: F32L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116686
Gene: ENSMUSG00000057880
AA Change: F32L

DomainStartEndE-ValueType
Pfam:Aminotran_3 53 232 1.9e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140795
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T G 2: 25,336,080 (GRCm39) L2150R probably damaging Het
Apob T A 12: 8,061,865 (GRCm39) V3449D probably damaging Het
Arfgef2 T A 2: 166,715,548 (GRCm39) V1331D probably damaging Het
Bora A G 14: 99,305,929 (GRCm39) N433D probably damaging Het
Cand2 G A 6: 115,778,912 (GRCm39) A1159T probably benign Het
Ccser1 C T 6: 61,288,650 (GRCm39) A271V probably benign Het
Ccser2 G A 14: 36,601,391 (GRCm39) T331I possibly damaging Het
Cemip A G 7: 83,607,733 (GRCm39) S758P probably damaging Het
Cenpf C T 1: 189,385,663 (GRCm39) V2206I possibly damaging Het
Chrnb1 A T 11: 69,676,007 (GRCm39) S412T probably benign Het
Cks1b A C 3: 89,323,608 (GRCm39) W54G probably damaging Het
Col5a3 C T 9: 20,708,872 (GRCm39) V630M unknown Het
Dnajb14 A G 3: 137,591,139 (GRCm39) D30G probably benign Het
Dpp8 T C 9: 64,985,296 (GRCm39) Y785H probably damaging Het
Dsel T A 1: 111,790,551 (GRCm39) probably benign Het
Dzip1 C T 14: 119,148,805 (GRCm39) M291I probably damaging Het
Esp8 G A 17: 40,841,033 (GRCm39) C98Y unknown Het
F11 C A 8: 45,705,180 (GRCm39) M120I probably benign Het
Fsip2 T C 2: 82,820,185 (GRCm39) F5306S possibly damaging Het
Gm4841 T C 18: 60,404,113 (GRCm39) probably null Het
Gpr180 T A 14: 118,377,251 (GRCm39) L84Q probably benign Het
Grwd1 A T 7: 45,479,505 (GRCm39) D123E probably benign Het
Hsfy2 T C 1: 56,675,827 (GRCm39) R237G probably benign Het
Htr5a A G 5: 28,055,993 (GRCm39) Y328C probably damaging Het
Klrb1f G A 6: 129,030,794 (GRCm39) A127T probably damaging Het
Mcpt4 A T 14: 56,299,750 (GRCm39) probably null Het
Muc5b T C 7: 141,415,940 (GRCm39) V2962A unknown Het
Or52s19 T A 7: 103,007,652 (GRCm39) I250F probably damaging Het
Or5t15 A T 2: 86,681,807 (GRCm39) N78K probably benign Het
Otog A T 7: 45,904,428 (GRCm39) T518S probably damaging Het
Phgdh A T 3: 98,228,639 (GRCm39) probably null Het
Pip5kl1 A T 2: 32,469,106 (GRCm39) T213S probably benign Het
Plekhg2 G A 7: 28,062,094 (GRCm39) R594W probably damaging Het
Prg4 T A 1: 150,330,977 (GRCm39) probably benign Het
Prpf40a T A 2: 53,035,888 (GRCm39) D621V probably damaging Het
Ptgr3 G A 18: 84,112,803 (GRCm39) A160T probably damaging Het
Ptprz1 A T 6: 23,007,401 (GRCm39) I1655F probably damaging Het
Rbm28 T C 6: 29,128,558 (GRCm39) K55E probably damaging Het
Rbm43 A T 2: 51,815,633 (GRCm39) V196E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serinc4 T A 2: 121,282,861 (GRCm39) M434L possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc35f1 A T 10: 52,567,157 (GRCm39) H22L possibly damaging Het
Smg6 A G 11: 74,932,820 (GRCm39) D98G possibly damaging Het
Strbp A G 2: 37,489,186 (GRCm39) Y527H probably damaging Het
Strbp A G 2: 37,490,818 (GRCm39) V479A probably benign Het
Tdg G T 10: 82,477,305 (GRCm39) V119L probably benign Het
Trav10d G A 14: 53,048,825 (GRCm39) R72H probably benign Het
Trgc2 T C 13: 19,489,297 (GRCm39) Y145C unknown Het
Trim25 T C 11: 88,900,093 (GRCm39) L280P probably damaging Het
Tsc22d4 A G 5: 137,760,726 (GRCm39) D49G probably damaging Het
Ttn T C 2: 76,720,534 (GRCm39) probably benign Het
Tyr T A 7: 87,121,703 (GRCm39) H363L probably damaging Het
Ubr5 A G 15: 37,989,822 (GRCm39) S2020P probably damaging Het
Usp9y T C Y: 1,315,928 (GRCm39) D2069G probably damaging Het
Vmn1r170 T C 7: 23,305,963 (GRCm39) W122R probably benign Het
Wdr7 G A 18: 63,958,310 (GRCm39) probably null Het
Ylpm1 T A 12: 85,077,029 (GRCm39) H793Q probably damaging Het
Zfp266 G A 9: 20,410,659 (GRCm39) T506I probably damaging Het
Zfp518a T C 19: 40,904,300 (GRCm39) S1410P probably damaging 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
R4895:Abat UTSW 16 8,433,826 (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'- ACAGTGTACTAAGGTGAACTTGTC -3'
(R):5'- CCTGCTGTTAGGCAATGTCC -3'

Sequencing Primer
(F):5'- TGTACTAAGGTGAACTTGTCAGACAG -3'
(R):5'- GCTGTTAGGCAATGTCCTCATGAC -3'
Posted On 2016-08-04