Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01642:Abat'

93685

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abat

Ensembl Gene

ENSMUSG00000057880

Gene Name

4-aminobutyrate aminotransferase

Synonyms

9630038C02Rik, GABA-T

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01642

Quality Score

Status

Chromosome

Chromosomal Location

8331293-8439432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8418783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 126 (I126F)

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: I126F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: I126F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115838
AA Change: I126F

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111504
Gene: ENSMUSG00000057880
AA Change: I126F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115839
AA Change: I126F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: I126F

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 benign
Transcript: ENSMUST00000138987
AA Change: I95F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000116686
Gene: ENSMUSG00000057880
AA Change: I95F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144444
AA Change: I30F

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121881
Gene: ENSMUSG00000057880
AA Change: I30F

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

Coding Region Coverage

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	A	G	11: 116,486,514 (GRCm39)	T18A	possibly damaging	Het
Adcy6	G	A	15: 98,492,390 (GRCm39)	A958V	possibly damaging	Het
Ago2	T	C	15: 72,995,239 (GRCm39)	I447V	probably benign	Het
Arid1a	A	G	4: 133,409,155 (GRCm39)	V1784A	unknown	Het
Atp1b1	A	G	1: 164,285,330 (GRCm39)	F33L	probably benign	Het
Bpnt1	G	A	1: 185,086,238 (GRCm39)	V198I	probably benign	Het
Cemip2	T	A	19: 21,801,265 (GRCm39)	I794N	probably damaging	Het
Cfap251	T	C	5: 123,426,761 (GRCm39)	V383A	possibly damaging	Het
Cgas	G	A	9: 78,344,680 (GRCm39)	P247L	probably damaging	Het
Clip3	G	A	7: 29,998,287 (GRCm39)	M244I	probably benign	Het
Clip3	A	T	7: 29,996,494 (GRCm39)		probably benign	Het
Cyp2a22	A	T	7: 26,638,184 (GRCm39)	N107K	possibly damaging	Het
Cyp2c23	A	T	19: 43,993,995 (GRCm39)	L457Q	probably damaging	Het
Dbr1	A	G	9: 99,458,031 (GRCm39)	Y17C	probably damaging	Het
Drc7	G	A	8: 95,785,767 (GRCm39)	V208I	probably benign	Het
Dst	T	A	1: 34,228,470 (GRCm39)	L2021Q	probably damaging	Het
E2f4	C	A	8: 106,027,968 (GRCm39)	P299T	probably damaging	Het
Eef1b2	T	C	1: 63,216,990 (GRCm39)	L53P	probably damaging	Het
Enpp3	T	C	10: 24,674,167 (GRCm39)	T378A	probably damaging	Het
Eps15	A	G	4: 109,223,670 (GRCm39)	N302S	probably benign	Het
Esrrg	G	A	1: 187,943,112 (GRCm39)	V362M	probably benign	Het
Gcc2	T	A	10: 58,116,434 (GRCm39)	N1014K	probably benign	Het
Gm3099	T	A	14: 15,346,476 (GRCm39)	M114K	possibly damaging	Het
Gnptab	C	T	10: 88,271,994 (GRCm39)	T928I	possibly damaging	Het
Gpd2	A	T	2: 57,158,083 (GRCm39)	R31*	probably null	Het
Impdh1	T	C	6: 29,207,165 (GRCm39)	T60A	possibly damaging	Het
Kcnab3	A	G	11: 69,221,256 (GRCm39)	E191G	probably benign	Het
Kcnh5	A	G	12: 75,011,943 (GRCm39)	S659P	probably damaging	Het
Kl	T	C	5: 150,904,334 (GRCm39)	I362T	possibly damaging	Het
Kpna4	A	G	3: 68,993,117 (GRCm39)	V414A	probably damaging	Het
Magi1	G	A	6: 93,663,605 (GRCm39)	P1111S	possibly damaging	Het
Myo18a	A	G	11: 77,755,558 (GRCm39)	D1965G	probably benign	Het
Nadsyn1	G	A	7: 143,351,615 (GRCm39)	P673S	probably damaging	Het
Naip2	A	G	13: 100,297,445 (GRCm39)	S864P	probably damaging	Het
Or10ak16	A	G	4: 118,750,658 (GRCm39)	Y126C	probably damaging	Het
Or2d2b	A	T	7: 106,706,029 (GRCm39)	I13N	possibly damaging	Het
Or2f1	G	T	6: 42,721,486 (GRCm39)	V172L	probably benign	Het
Paics	T	A	5: 77,109,357 (GRCm39)		probably benign	Het
Papss1	G	T	3: 131,288,996 (GRCm39)		probably benign	Het
Pax3	A	G	1: 78,173,300 (GRCm39)		probably null	Het
Pgbd5	T	G	8: 125,110,941 (GRCm39)	Q159P	probably benign	Het
Pkd1	A	G	17: 24,800,266 (GRCm39)	Y3009C	probably damaging	Het
Pla2g4d	T	C	2: 120,111,117 (GRCm39)	T161A	probably damaging	Het
Podxl2	T	A	6: 88,820,529 (GRCm39)	Y521F	probably damaging	Het
Pramel34	A	G	5: 93,784,154 (GRCm39)	Y437H	possibly damaging	Het
Prmt2	C	T	10: 76,058,327 (GRCm39)	G161S	probably damaging	Het
Rft1	C	T	14: 30,398,825 (GRCm39)	T265I	probably damaging	Het
Rims2	T	A	15: 39,321,192 (GRCm39)	L736M	probably damaging	Het
Slf1	C	T	13: 77,198,034 (GRCm39)	A747T	probably benign	Het
Snx2	A	G	18: 53,349,519 (GRCm39)	K427E	probably damaging	Het
Tmem131l	A	T	3: 83,845,357 (GRCm39)	D424E	possibly damaging	Het
Tnxb	A	G	17: 34,937,488 (GRCm39)	T3826A	probably damaging	Het
Tpp2	T	C	1: 43,993,813 (GRCm39)	Y233H	probably damaging	Het
Ubl4b	C	A	3: 107,462,147 (GRCm39)	E38*	probably null	Het
Usp5	A	T	6: 124,797,416 (GRCm39)	I486N	probably damaging	Het
Vmn1r193	A	C	13: 22,403,794 (GRCm39)	L66R	probably damaging	Het
Vps13b	T	C	15: 35,792,218 (GRCm39)	I2162T	probably benign	Het
Wipf2	T	C	11: 98,781,650 (GRCm39)	V63A	probably benign	Het
Zfp735	G	T	11: 73,601,305 (GRCm39)	C83F	possibly damaging	Het
Zfyve26	T	C	12: 79,308,348 (GRCm39)		probably null	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
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
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

Posted On

2013-12-09