Incidental Mutation 'R6190:Abat'
ID 502512
Institutional Source Beutler Lab
Gene Symbol Abat
Ensembl Gene ENSMUSG00000057880
Gene Name 4-aminobutyrate aminotransferase
Synonyms 9630038C02Rik, GABA-T
MMRRC Submission 044330-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6190 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 8331293-8439432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8423472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 224 (L224Q)
Ref Sequence ENSEMBL: ENSMUSP00000116686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065987] [ENSMUST00000115838] [ENSMUST00000115839] [ENSMUST00000138987]
AlphaFold P61922
Predicted Effect probably damaging
Transcript: ENSMUST00000065987
AA Change: L255Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: L255Q

DomainStartEndE-ValueType
Pfam:Aminotran_3 65 496 1.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115838
SMART Domains Protein: ENSMUSP00000111504
Gene: ENSMUSG00000057880

DomainStartEndE-ValueType
Pfam:Aminotran_3 76 186 5e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115839
AA Change: L255Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: L255Q

DomainStartEndE-ValueType
Pfam:Aminotran_3 76 323 3.2e-64 PFAM
Pfam:Aminotran_3 317 390 1.8e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138987
AA Change: L224Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116686
Gene: ENSMUSG00000057880
AA Change: L224Q

DomainStartEndE-ValueType
Pfam:Aminotran_3 53 232 1.9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144444
SMART Domains Protein: ENSMUSP00000121881
Gene: ENSMUSG00000057880

DomainStartEndE-ValueType
Pfam:Aminotran_3 3 93 1.3e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,211,529 (GRCm39) M478T probably benign Het
Acot10 T C 15: 20,665,871 (GRCm39) D290G possibly damaging Het
Actr3b A G 5: 26,036,688 (GRCm39) Q167R probably benign Het
Actr8 C T 14: 29,713,674 (GRCm39) R565* probably null Het
Adcy7 C T 8: 89,052,358 (GRCm39) probably null Het
Adgrb3 C T 1: 25,459,728 (GRCm39) V576I probably benign Het
Adgrv1 T A 13: 81,607,882 (GRCm39) probably null Het
Adgrv1 A T 13: 81,672,898 (GRCm39) probably null Het
Ak2 A G 4: 128,892,976 (GRCm39) D45G probably damaging Het
Ak9 C G 10: 41,298,403 (GRCm39) Q1489E unknown Het
Ak9 A T 10: 41,298,404 (GRCm39) Q1489L unknown Het
Akap12 C A 10: 4,306,268 (GRCm39) S1026Y possibly damaging Het
Ankhd1 T G 18: 36,744,862 (GRCm39) S601A possibly damaging Het
Apba2 A T 7: 64,389,628 (GRCm39) E508V probably damaging Het
Arhgap18 A G 10: 26,722,031 (GRCm39) M1V probably null Het
Arhgef10l G A 4: 140,270,073 (GRCm39) T865M possibly damaging Het
Bdh1 T A 16: 31,268,715 (GRCm39) V150D probably damaging Het
Becn1 A G 11: 101,186,200 (GRCm39) C135R probably damaging Het
C2cd4d A G 3: 94,271,226 (GRCm39) D164G probably benign Het
Cacna1e C A 1: 154,362,316 (GRCm39) V424F possibly damaging Het
Capn7 C A 14: 31,085,560 (GRCm39) T511K probably benign Het
Cdc5l G A 17: 45,718,943 (GRCm39) P558S probably benign Het
Cep170 T A 1: 176,609,975 (GRCm39) H112L probably damaging Het
Cfap61 C T 2: 145,789,053 (GRCm39) T19M probably benign Het
Clca3a1 A G 3: 144,463,821 (GRCm39) V152A probably benign Het
Cnot10 G T 9: 114,461,791 (GRCm39) T24K probably damaging Het
Cntnap5b T A 1: 100,306,800 (GRCm39) I839N possibly damaging Het
Cyp4f13 A T 17: 33,148,847 (GRCm39) D299E probably damaging Het
Dclk1 A G 3: 55,395,232 (GRCm39) E128G probably damaging Het
Dennd1b T C 1: 139,061,413 (GRCm39) I365T probably damaging Het
Dgcr8 T C 16: 18,102,274 (GRCm39) T3A probably damaging Het
Dld A C 12: 31,394,847 (GRCm39) I58S probably damaging Het
Dlg5 T A 14: 24,240,506 (GRCm39) R248S probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Faf1 C T 4: 109,719,012 (GRCm39) L373F probably damaging Het
Fam171b C T 2: 83,707,042 (GRCm39) T304I probably benign Het
Fcgrt A T 7: 44,751,622 (GRCm39) probably null Het
Gimap9 T C 6: 48,655,285 (GRCm39) W291R probably damaging Het
Gm4847 G A 1: 166,457,892 (GRCm39) A487V probably damaging Het
Gria4 T A 9: 4,420,199 (GRCm39) I888F probably benign Het
Hapln2 T A 3: 87,930,600 (GRCm39) I224F probably damaging Het
Herc1 T G 9: 66,283,663 (GRCm39) L332R possibly damaging Het
Hmgxb4 T C 8: 75,749,927 (GRCm39) V481A probably benign Het
Htr1d T C 4: 136,170,109 (GRCm39) S113P probably damaging Het
Ift81 T C 5: 122,689,163 (GRCm39) Q651R probably benign Het
Il17ra T C 6: 120,452,234 (GRCm39) S199P probably damaging Het
Itih2 T C 2: 10,103,318 (GRCm39) N723S probably benign Het
Jak1 A T 4: 101,032,325 (GRCm39) V427E probably damaging Het
Krt23 C T 11: 99,376,584 (GRCm39) D191N probably damaging Het
Lingo1 T A 9: 56,526,934 (GRCm39) I552F possibly damaging Het
Llgl2 G A 11: 115,737,812 (GRCm39) R199Q probably benign Het
Lrrc37a G T 11: 103,392,042 (GRCm39) Q1128K possibly damaging Het
Lrrc74a T C 12: 86,783,263 (GRCm39) V36A probably benign Het
M1ap T A 6: 82,980,877 (GRCm39) D254E possibly damaging Het
Mal2 C T 15: 54,434,794 (GRCm39) probably benign Het
Mbnl2 A G 14: 120,622,833 (GRCm39) T124A probably benign Het
Nfatc1 A G 18: 80,755,885 (GRCm39) S33P probably benign Het
Nfkbid A G 7: 30,125,162 (GRCm39) N253S probably damaging Het
Ngfr T A 11: 95,465,267 (GRCm39) I194F probably benign Het
Nhsl1 A G 10: 18,345,789 (GRCm39) probably benign Het
Nol9 T A 4: 152,125,691 (GRCm39) I214N possibly damaging Het
Or1o3 A G 17: 37,573,635 (GRCm39) S307P probably benign Het
Or5p56 T C 7: 107,590,307 (GRCm39) L245P probably damaging Het
Or8k3 T A 2: 86,058,578 (GRCm39) T246S possibly damaging Het
Pax3 C T 1: 78,169,186 (GRCm39) S160N possibly damaging Het
Pde3b A G 7: 114,122,267 (GRCm39) probably null Het
Pde5a A C 3: 122,522,956 (GRCm39) E21A probably benign Het
Plcxd1 A G 5: 110,250,469 (GRCm39) E270G probably damaging Het
Plxna1 T A 6: 89,333,586 (GRCm39) K348* probably null Het
Pramel34 A T 5: 93,785,937 (GRCm39) N114K probably benign Het
Prb1b T A 6: 132,289,692 (GRCm39) H44L unknown Het
Psg21 G T 7: 18,388,926 (GRCm39) D55E possibly damaging Het
Rasa1 C A 13: 85,381,814 (GRCm39) A493S probably benign Het
Raver2 A G 4: 100,990,814 (GRCm39) I396V probably benign Het
Rpa2 A G 4: 132,502,331 (GRCm39) K138E probably benign Het
Rsad1 T C 11: 94,439,062 (GRCm39) N133D probably damaging Het
Rusc1 T C 3: 88,999,188 (GRCm39) D198G probably benign Het
Samsn1 A T 16: 75,667,803 (GRCm39) Y258N probably damaging Het
Scap A G 9: 110,203,135 (GRCm39) N270D probably benign Het
Shisal2a A T 4: 108,225,052 (GRCm39) I170N probably damaging Het
Smpd4 T C 16: 17,449,877 (GRCm39) Y200H probably damaging Het
Steap2 A G 5: 5,725,881 (GRCm39) V381A probably damaging Het
Syk C T 13: 52,765,089 (GRCm39) T72I probably damaging Het
Tbc1d14 T C 5: 36,729,228 (GRCm39) D66G possibly damaging Het
Tcp11 A G 17: 28,290,691 (GRCm39) Y223H probably benign Het
Timm9 A G 12: 71,173,124 (GRCm39) S8P probably benign Het
Tmpo T C 10: 91,000,069 (GRCm39) probably null Het
Vezf1 T C 11: 87,967,012 (GRCm39) M81T probably benign Het
Vipr1 T A 9: 121,493,719 (GRCm39) W257R probably damaging Het
Vmn1r237 G A 17: 21,534,556 (GRCm39) G93D probably damaging Het
Vmn2r6 A G 3: 64,445,424 (GRCm39) V678A probably benign Het
Vmn2r85 T C 10: 130,261,330 (GRCm39) T336A possibly damaging Het
Xpnpep3 C A 15: 81,322,300 (GRCm39) D296E probably benign Het
Zfp35 C A 18: 24,137,118 (GRCm39) H487Q probably benign Het
Zfp606 A T 7: 12,227,928 (GRCm39) Y625F probably damaging Het
Zfp677 A G 17: 21,617,530 (GRCm39) T196A possibly damaging Het
Zmym1 T C 4: 126,941,677 (GRCm39) I904V 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
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'- CTACATGCACAGGGCTGAAAA -3'
(R):5'- AAAACCAATGCCTCTTGTCTCT -3'

Sequencing Primer
(F):5'- TGCACAGGGCTGAAAAACTCAC -3'
(R):5'- CCCTTACAGGTCTTCATGTCC -3'
Posted On 2018-02-27