Mutagenetix > Incidental Mutation

Incidental Mutation 'R7499:Abat'

581401

Institutional Source

Beutler Lab

Gene Symbol

Abat

Ensembl Gene

ENSMUSG00000057880

Gene Name

4-aminobutyrate aminotransferase

Synonyms

9630038C02Rik, GABA-T

MMRRC Submission

045572-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7499 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8331293-8439432 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 8421618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000063548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065987] [ENSMUST00000115838] [ENSMUST00000115839] [ENSMUST00000138987]

AlphaFold

P61922

Predicted Effect

probably null
Transcript: ENSMUST00000065987

SMART Domains

Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	65	496	1.7e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115838

SMART Domains

Protein: ENSMUSP00000111504
Gene: ENSMUSG00000057880

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	76	186	5e-30	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000115839

SMART Domains

Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	76	323	3.2e-64	PFAM
Pfam:Aminotran_3	317	390	1.8e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000138987

SMART Domains

Protein: ENSMUSP00000116686
Gene: ENSMUSG00000057880

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	53	232	1.9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144444

SMART Domains

Protein: ENSMUSP00000121881
Gene: ENSMUSG00000057880

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	3	93	1.3e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,907,186 (GRCm39)	D180V	possibly damaging	Het
Ankfn1	G	A	11: 89,282,576 (GRCm39)	T357I	probably benign	Het
Armc3	C	T	2: 19,290,790 (GRCm39)	T423I	probably benign	Het
Asb6	T	C	2: 30,714,472 (GRCm39)	T213A	possibly damaging	Het
Atp11a	T	C	8: 12,882,575 (GRCm39)	C488R	probably benign	Het
Bag6	G	A	17: 35,363,368 (GRCm39)	R736H	probably benign	Het
Bche	G	A	3: 73,609,231 (GRCm39)	P65L	probably damaging	Het
Cela3a	T	A	4: 137,132,950 (GRCm39)	I101F	probably damaging	Het
Cep170	A	T	1: 176,602,028 (GRCm39)	D359E	probably damaging	Het
Chfr	T	C	5: 110,299,549 (GRCm39)	V314A	probably benign	Het
Clpb	T	C	7: 101,371,935 (GRCm39)	F224L	possibly damaging	Het
Coro2a	T	C	4: 46,539,188 (GRCm39)	K527R	probably benign	Het
Cpa5	A	G	6: 30,630,856 (GRCm39)	T373A	possibly damaging	Het
Ctsd	A	T	7: 141,937,149 (GRCm39)		probably null	Het
Dlx5	G	A	6: 6,878,340 (GRCm39)	S230F	possibly damaging	Het
Dlx5	A	C	6: 6,878,341 (GRCm39)	S230A	probably benign	Het
Dmc1	G	T	15: 79,486,621 (GRCm39)	S11*	probably null	Het
Dnah1	G	A	14: 31,037,079 (GRCm39)	Q256*	probably null	Het
Dnah3	A	G	7: 119,660,135 (GRCm39)	F846L	probably damaging	Het
Dnah5	A	T	15: 28,302,596 (GRCm39)	I1618F	probably damaging	Het
Emsy	A	G	7: 98,279,538 (GRCm39)	V267A	possibly damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,924,007 (GRCm39)	I317M	probably damaging	Het
G6pc1	C	A	11: 101,267,520 (GRCm39)	Y323*	probably null	Het
Gm5114	A	G	7: 39,058,489 (GRCm39)	C377R	possibly damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Hmbox1	A	G	14: 65,134,126 (GRCm39)	V158A	possibly damaging	Het
Hmg20a	A	G	9: 56,396,227 (GRCm39)	R340G	unknown	Het
Ifi206	T	A	1: 173,309,607 (GRCm39)	I130F		Het
Ifnb1	T	C	4: 88,440,911 (GRCm39)	N34S	probably benign	Het
Il16	T	C	7: 83,323,702 (GRCm39)	K283E	probably damaging	Het
Maf	T	C	8: 116,419,920 (GRCm39)	D374G	probably benign	Het
Mettl14	A	G	3: 123,168,503 (GRCm39)	I179T	probably benign	Het
Mpped1	G	A	15: 83,684,251 (GRCm39)	R91H	probably damaging	Het
Nop2	C	A	6: 125,121,171 (GRCm39)	P651Q	possibly damaging	Het
Or5p62	A	G	7: 107,771,007 (GRCm39)	*315Q	probably null	Het
Phkg1	G	A	5: 129,902,109 (GRCm39)	Q89*	probably null	Het
Phykpl	T	A	11: 51,482,285 (GRCm39)	V133E	probably damaging	Het
Polr3gl	A	T	3: 96,487,137 (GRCm39)	Y183N	probably benign	Het
Rab13	A	G	3: 90,132,840 (GRCm39)	T187A	probably benign	Het
Ripor2	A	G	13: 24,877,755 (GRCm39)	M252V	probably damaging	Het
Sec61a2	T	C	2: 5,882,725 (GRCm39)	N186S	probably benign	Het
Serpinb5	T	C	1: 106,800,119 (GRCm39)		probably null	Het
Serpine3	G	A	14: 62,902,476 (GRCm39)	W29*	probably null	Het
Sh2b3	T	C	5: 121,956,536 (GRCm39)	R382G	probably damaging	Het
Slc66a1	T	A	4: 139,033,823 (GRCm39)	D32V	probably damaging	Het
Slc7a5	A	G	8: 122,610,461 (GRCm39)	L451P	probably damaging	Het
Slco1a5	T	C	6: 142,208,257 (GRCm39)		probably null	Het
Tep1	G	A	14: 51,091,047 (GRCm39)	A695V	probably damaging	Het
Tnik	T	C	3: 28,684,743 (GRCm39)	V857A	possibly damaging	Het
Trdn	A	T	10: 33,072,097 (GRCm39)	M255L	probably benign	Het
Tsc22d4	G	A	5: 137,745,985 (GRCm39)	S203N	probably benign	Het
Tsfm	T	C	10: 126,858,417 (GRCm39)	E316G	possibly damaging	Het
Tvp23b	T	C	11: 62,770,289 (GRCm39)		probably benign	Het
Vgf	C	A	5: 137,061,099 (GRCm39)	D420E	probably damaging	Het
Zan	G	A	5: 137,462,618 (GRCm39)	P854S	probably benign	Het
Zfp831	T	C	2: 174,485,816 (GRCm39)	S164P	possibly damaging	Het

Other mutations in Abat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGGTGCTTAGTTCCAAGCTC -3'
(R):5'- TCAGAGGGCAATGCTGAAC -3'

Sequencing Primer
(F):5'- GGTGCTTAGTTCCAAGCTCAATAATC -3'
(R):5'- GAATGACTGATACCTCTGTTCTTAC -3'

Posted On

2019-10-17