Mutagenetix > Incidental Mutation

Incidental Mutation 'R6113:Abat'

484979

Institutional Source

Beutler Lab

Gene Symbol

Abat

Ensembl Gene

ENSMUSG00000057880

Gene Name

4-aminobutyrate aminotransferase

Synonyms

9630038C02Rik, GABA-T

MMRRC Submission

044262-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8331293-8439432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8390764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 7 (T7N)

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: T7N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: T7N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115838
AA Change: T7N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000111504
Gene: ENSMUSG00000057880
AA Change: T7N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115839
AA Change: T7N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: T7N

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

SMART Domains

Protein: ENSMUSP00000116686
Gene: ENSMUSG00000057880

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140795

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	G	T	10: 83,343,998 (GRCm39)	C359*	probably null	Het
Atpsckmt	T	C	15: 31,608,308 (GRCm39)	Y120H	probably damaging	Het
Bpifb6	G	A	2: 153,752,651 (GRCm39)	E384K	probably benign	Het
Chtf18	G	A	17: 25,941,841 (GRCm39)	R544C	probably damaging	Het
Cilp2	T	C	8: 70,335,009 (GRCm39)	D663G	probably benign	Het
Cplx3	T	A	9: 57,509,723 (GRCm39)	I92F	probably damaging	Het
Cr1l	T	C	1: 194,813,719 (GRCm39)		probably benign	Het
Cyp1a1	T	A	9: 57,609,174 (GRCm39)	F323I	probably damaging	Het
Dclk1	T	C	3: 55,397,240 (GRCm39)	Y186H	probably benign	Het
Dclre1c	T	C	2: 3,453,900 (GRCm39)	L261P	probably damaging	Het
Dcst2	T	C	3: 89,275,192 (GRCm39)	S312P	possibly damaging	Het
Dnah17	A	G	11: 118,017,101 (GRCm39)	L213P	probably damaging	Het
Dnd1	T	A	18: 36,898,448 (GRCm39)	Y102F	probably damaging	Het
Dnm1l	T	C	16: 16,158,867 (GRCm39)	N121S	probably benign	Het
Dsp	T	A	13: 38,376,023 (GRCm39)	N1269K	probably damaging	Het
Dync1h1	T	C	12: 110,586,848 (GRCm39)	V943A	probably benign	Het
Eml5	T	A	12: 98,790,933 (GRCm39)	K1322*	probably null	Het
Fgf23	A	G	6: 127,055,117 (GRCm39)	T76A	probably benign	Het
Fgf6	T	C	6: 126,992,900 (GRCm39)		probably null	Het
Fkbp15	G	A	4: 62,258,884 (GRCm39)	T124I	probably benign	Het
Gm12185	A	T	11: 48,806,167 (GRCm39)	H341Q	possibly damaging	Het
Gm20647	A	G	5: 72,487,143 (GRCm39)		probably benign	Het
Lrp2	G	C	2: 69,313,901 (GRCm39)	R2277G	possibly damaging	Het
Lrrc69	T	C	4: 14,708,673 (GRCm39)	T224A	probably benign	Het
Ly75	T	G	2: 60,199,217 (GRCm39)	I175L	probably benign	Het
Morc2b	G	T	17: 33,357,042 (GRCm39)	Y243*	probably null	Het
Myo18b	C	G	5: 113,014,251 (GRCm39)	D764H	probably damaging	Het
Naip6	T	C	13: 100,435,794 (GRCm39)	S910G	possibly damaging	Het
Nbeal1	T	A	1: 60,261,422 (GRCm39)	I21N	possibly damaging	Het
P3h2	A	T	16: 25,799,903 (GRCm39)	I430K	probably benign	Het
Pcdh9	A	G	14: 94,124,544 (GRCm39)	V542A	probably damaging	Het
Pkp3	T	A	7: 140,662,569 (GRCm39)	N60K	probably damaging	Het
Pold1	C	A	7: 44,187,124 (GRCm39)	G686C	probably damaging	Het
Prdm6	T	A	18: 53,606,673 (GRCm39)	L58Q	probably damaging	Het
Rab13	C	A	3: 90,132,173 (GRCm39)	R86S	probably benign	Het
Rad21l	A	C	2: 151,499,398 (GRCm39)	L265V	probably damaging	Het
Rec8	G	A	14: 55,859,935 (GRCm39)	A228T	probably damaging	Het
Rgs12	C	A	5: 35,177,667 (GRCm39)	R76S	probably damaging	Het
Sfmbt1	A	G	14: 30,537,141 (GRCm39)	N670D	possibly damaging	Het
Slc17a7	A	G	7: 44,824,175 (GRCm39)	T464A	possibly damaging	Het
Srcap	C	A	7: 127,159,453 (GRCm39)		probably benign	Het
Srgap2	A	T	1: 131,283,243 (GRCm39)		probably null	Het
Tenm1	C	T	X: 41,916,072 (GRCm39)	G404E	probably damaging	Het
Thpo	C	A	16: 20,547,597 (GRCm39)		probably benign	Het
Tle4	A	T	19: 14,572,952 (GRCm39)		probably null	Het
Tnfrsf14	T	C	4: 155,008,949 (GRCm39)	Q74R	possibly damaging	Het
Trav15-2-dv6-2	T	G	14: 53,887,182 (GRCm39)	V34G	probably benign	Het
Trbv13-1	C	T	6: 41,093,313 (GRCm39)	A82V	probably benign	Het
Trib1	C	T	15: 59,523,487 (GRCm39)	R174*	probably null	Het
Trpv3	G	A	11: 73,176,844 (GRCm39)	V408I	probably benign	Het
Tyk2	A	T	9: 21,019,218 (GRCm39)	V1068E	probably damaging	Het
Usp35	A	G	7: 96,973,533 (GRCm39)	S230P	probably damaging	Het
Utp25	T	C	1: 192,811,810 (GRCm39)	I46V	probably null	Het
Vav1	T	A	17: 57,608,884 (GRCm39)	D349E	probably benign	Het
Vcan	T	A	13: 89,805,655 (GRCm39)	R114*	probably null	Het
Vmn1r25	T	C	6: 57,955,557 (GRCm39)	E244G	probably benign	Het
Vmn2r5	T	C	3: 64,398,820 (GRCm39)	T720A	probably benign	Het
Wdr72	T	A	9: 74,059,923 (GRCm39)	D444E	probably benign	Het
Zfhx3	T	A	8: 109,674,053 (GRCm39)	M1701K	probably benign	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
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'- ATGTCGCAAGGGAAGTTGTATCC -3'
(R):5'- TGCTACATGAGAGGTGTCCATC -3'

Sequencing Primer
(F):5'- GGAAGTTGTATCCTAAGAGTCTTCC -3'
(R):5'- GTAGCCATGGTGATAGCCTC -3'

Posted On

2017-08-16