Incidental Mutation 'R8138:Abat'
ID 632377
Institutional Source Beutler Lab
Gene Symbol Abat
Ensembl Gene ENSMUSG00000057880
Gene Name 4-aminobutyrate aminotransferase
Synonyms 9630038C02Rik, GABA-T
MMRRC Submission 067566-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8138 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 8331293-8439432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8418829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 141 (D141G)
Ref Sequence ENSEMBL: ENSMUSP00000063548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065987] [ENSMUST00000115838] [ENSMUST00000115839] [ENSMUST00000138987]
AlphaFold P61922
Predicted Effect probably benign
Transcript: ENSMUST00000065987
AA Change: D141G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: D141G

DomainStartEndE-ValueType
Pfam:Aminotran_3 65 496 1.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115838
AA Change: D141G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000111504
Gene: ENSMUSG00000057880
AA Change: D141G

DomainStartEndE-ValueType
Pfam:Aminotran_3 76 186 5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115839
AA Change: D141G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: D141G

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: D110G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116686
Gene: ENSMUSG00000057880
AA Change: D110G

DomainStartEndE-ValueType
Pfam:Aminotran_3 53 232 1.9e-32 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000121881
Gene: ENSMUSG00000057880
AA Change: D45G

DomainStartEndE-ValueType
Pfam:Aminotran_3 3 93 1.3e-19 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.5%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,290,751 (GRCm39) T1454A probably damaging Het
Acan C A 7: 78,748,175 (GRCm39) T982N probably benign Het
Adam5 A G 8: 25,271,778 (GRCm39) L543P probably damaging Het
Akap13 T A 7: 75,351,979 (GRCm39) probably null Het
Akirin1 G A 4: 123,637,238 (GRCm39) P116S probably benign Het
Bzw2 T C 12: 36,159,819 (GRCm39) D236G probably benign Het
C1qtnf2 G A 11: 43,376,838 (GRCm39) G70D probably damaging Het
Cd44 A G 2: 102,662,842 (GRCm39) I566T probably benign Het
Cltb C T 13: 54,746,596 (GRCm39) D135N possibly damaging Het
Cpeb2 T C 5: 43,392,352 (GRCm39) V516A Het
Cx3cr1 A T 9: 119,880,649 (GRCm39) M251K possibly damaging Het
Ect2l A T 10: 18,045,153 (GRCm39) S301T probably damaging Het
Fgd6 A G 10: 93,970,005 (GRCm39) K1218R probably null Het
Fsip2 T C 2: 82,806,141 (GRCm39) V820A possibly damaging Het
Gnas A G 2: 174,140,179 (GRCm39) E116G probably benign Het
Greb1l T C 18: 10,533,060 (GRCm39) Y985H probably benign Het
Gtpbp3 T C 8: 71,945,242 (GRCm39) L438P probably damaging Het
Habp4 A G 13: 64,323,884 (GRCm39) D269G possibly damaging Het
Igf2r A T 17: 12,920,125 (GRCm39) S1405T probably benign Het
Il17rc A G 6: 113,459,500 (GRCm39) D482G probably damaging Het
Kmt2d A G 15: 98,741,534 (GRCm39) I4542T unknown Het
Lag3 A G 6: 124,882,455 (GRCm39) V347A probably damaging Het
Lmtk2 C T 5: 144,112,415 (GRCm39) S1045L probably damaging Het
Mblac2 A G 13: 81,859,769 (GRCm39) D41G probably damaging Het
Mfsd6 C T 1: 52,748,671 (GRCm39) V65I probably benign Het
Neb A G 2: 52,065,707 (GRCm39) V6175A possibly damaging Het
Nin A G 12: 70,089,672 (GRCm39) S1248P Het
Nlrp4b A T 7: 10,449,458 (GRCm39) M554L probably benign Het
Or51ab3 T A 7: 103,201,266 (GRCm39) H91Q probably benign Het
Or5an11 G A 19: 12,246,436 (GRCm39) V281M possibly damaging Het
Or5p59 A T 7: 107,702,764 (GRCm39) S83C possibly damaging Het
Or8k53 T C 2: 86,177,930 (GRCm39) Y60C possibly damaging Het
Pik3r4 C A 9: 105,546,234 (GRCm39) S861R possibly damaging Het
Ppp1r16a T C 15: 76,575,921 (GRCm39) V95A probably damaging Het
Prss40 T C 1: 34,597,080 (GRCm39) Q156R probably damaging Het
Rhbdd3 CACCATGGCTGCTACCATGGCTGCT CACCATGGCTGCT 11: 5,054,303 (GRCm39) probably benign Het
Rnf170 T C 8: 26,616,009 (GRCm39) probably null Het
Smlr1 A G 10: 25,411,939 (GRCm39) V16A probably benign Het
Sowahb A G 5: 93,191,342 (GRCm39) L459P probably benign Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Tpo T C 12: 30,124,103 (GRCm39) D899G probably benign Het
Traj7 C T 14: 54,448,982 (GRCm39) P19S Het
Trit1 G A 4: 122,937,582 (GRCm39) W131* probably null Het
Vcpip1 GGGAGGCGGCGGCGGCGGCAGCGGAGGAGGCGGCGGCGGC GGGAGGAGGCGGCGGCGGC 1: 9,818,334 (GRCm39) probably benign Het
Vmn1r4 A G 6: 56,934,391 (GRCm39) *298W probably null Het
Vmn2r124 T A 17: 18,283,610 (GRCm39) W435R probably damaging Het
Zbtb41 C T 1: 139,369,545 (GRCm39) R641C probably damaging Het
Zfp84 T A 7: 29,474,797 (GRCm39) F23Y probably damaging Het
Zfp879 G T 11: 50,724,275 (GRCm39) Y260* probably null Het
Zswim9 A T 7: 12,995,337 (GRCm39) F273Y 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
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
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'- TGAGAACTTCAGCCAGTGC -3'
(R):5'- CTCATGTAGCCAGACAGCTAGAG -3'

Sequencing Primer
(F):5'- TGAGAACTTCAGCCAGTGCATTAAC -3'
(R):5'- TCTGAGGACAGACAGACA -3'
Posted On 2020-06-30