Mutagenetix > Incidental Mutation

Incidental Mutation 'R8962:Abat'

682435

Institutional Source

Beutler Lab

Gene Symbol

Abat

Ensembl Gene

ENSMUSG00000057880

Gene Name

4-aminobutyrate aminotransferase

Synonyms

GABA-T, 9630038C02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8513429-8621568 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8578302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 48 (T48A)

Ref Sequence

ENSEMBL: ENSMUSP00000111504 (fasta)

Gene Model

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

AlphaFold

P61922

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065987
AA Change: T48A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: T48A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115838
AA Change: T48A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111504
Gene: ENSMUSG00000057880
AA Change: T48A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115839
AA Change: T48A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: T48A

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

possibly damaging
Transcript: ENSMUST00000138987
AA Change: T41A

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116686
Gene: ENSMUSG00000057880
AA Change: T41A

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

Meta Mutation Damage Score

0.2513

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

99% (86/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,308,875	M120L	probably benign	Het
6430573F11Rik	A	G	8: 36,505,575	K60E	probably damaging	Het
Abca8a	A	T	11: 110,078,808	I314N	probably damaging	Het
Abr	A	T	11: 76,461,329	V108D	probably damaging	Het
Adamts17	T	G	7: 67,075,309	L162V	probably damaging	Het
Adamts6	A	T	13: 104,297,391	K109N	probably damaging	Het
Ago3	A	G	4: 126,347,802	F68S	probably damaging	Het
Aifm3	T	C	16: 17,506,336		probably null	Het
Ankrd26	T	C	6: 118,535,143	E506G	probably benign	Het
Apaf1	A	G	10: 91,067,204	L185P	probably damaging	Het
Atp8b3	G	T	10: 80,520,062	T1272K	probably benign	Het
Cars2	A	G	8: 11,537,304	V193A	probably benign	Het
Ccr8	A	T	9: 120,094,547	I243F	possibly damaging	Het
Col12a1	A	G	9: 79,631,619	V2465A	probably damaging	Het
Ctbp1	T	C	5: 33,259,272	N127S	probably benign	Het
Ddx10	A	G	9: 53,238,077	S117P	probably damaging	Het
Dgkb	T	C	12: 38,139,495		probably null	Het
Dnah11	T	A	12: 117,952,538	D3520V	probably damaging	Het
Dnah11	C	T	12: 117,954,895	D1530N	probably damaging	Het
Dock5	T	C	14: 67,757,191	T1807A	probably benign	Het
Drd3	C	T	16: 43,821,479	T386I	probably damaging	Het
Dsg1b	A	G	18: 20,409,259	N941S	probably damaging	Het
Enpp3	T	C	10: 24,820,615	T141A	probably benign	Het
Esyt1	A	T	10: 128,520,697	C360S	possibly damaging	Het
Ethe1	T	A	7: 24,606,257	V143D	probably damaging	Het
Fam170b	A	G	14: 32,835,379	D57G	probably benign	Het
Fam53c	T	C	18: 34,768,176	S49P	probably damaging	Het
Fbp1	G	A	13: 62,875,253	L77F	probably benign	Het
Gm10471	T	G	5: 26,085,747	E142A	probably benign	Het
Gm17093	A	G	14: 44,520,692	E110G		Het
Gm21976	G	T	13: 98,287,313		silent	Het
Golgb1	T	C	16: 36,913,616	I1075T	probably damaging	Het
Grip2	T	C	6: 91,777,410	D628G	probably damaging	Het
Gtpbp1	G	T	15: 79,717,728	L557F	probably benign	Het
Ighv12-3	A	T	12: 114,366,584	F97Y	probably benign	Het
Itga8	T	C	2: 12,191,234	H635R	possibly damaging	Het
Itgb7	A	G	15: 102,218,602	L466S	probably damaging	Het
Klc2	T	C	19: 5,111,836	D277G	probably benign	Het
Ktn1	A	G	14: 47,663,791	E2G	probably damaging	Het
Lcmt1	T	A	7: 123,401,446	Y68N	probably damaging	Het
March10	G	T	11: 105,389,989	S490*	probably null	Het
Mterf1b	A	T	5: 4,196,437	Y26F	probably benign	Het
Myo18b	T	A	5: 112,858,480	I855F	probably benign	Het
Nek4	G	A	14: 30,953,958	M83I	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	T	C	5: 117,879,340	V256A	probably benign	Het
Nr1h2	T	C	7: 44,552,039	T50A	probably benign	Het
Olfr296-ps1	T	A	7: 86,562,109	*126K	probably null	Het
Olfr732	A	C	14: 50,281,359	M298R	possibly damaging	Het
Ovol2	G	C	2: 144,305,914	R172G	probably damaging	Het
Parp14	A	G	16: 35,856,817	I927T	probably damaging	Het
Pcdhga7	T	A	18: 37,715,826	H295Q	probably benign	Het
Pkhd1l1	C	T	15: 44,536,895	T2145I	probably damaging	Het
Plekhs1	C	T	19: 56,473,248	T139I	possibly damaging	Het
Rab11fip3	T	A	17: 26,012,033	D746V	probably damaging	Het
Rnf214	A	C	9: 45,898,430		probably null	Het
Rtn4ip1	A	T	10: 43,946,419		probably null	Het
S1pr1	T	C	3: 115,711,920	R342G		Het
Serpina1f	T	C	12: 103,689,872	S366G	probably benign	Het
Sestd1	A	T	2: 77,212,364	M282K	probably benign	Het
Siglecf	T	G	7: 43,351,716	V36G	probably damaging	Het
Slc1a1	T	C	19: 28,909,469	V410A	probably damaging	Het
Slc38a4	C	A	15: 97,019,803	D14Y	probably benign	Het
Slk	C	T	19: 47,622,309	T806M	probably damaging	Het
Slurp2	C	A	15: 74,743,400	V48F	possibly damaging	Het
Socs1	A	G	16: 10,784,778	S32P	possibly damaging	Het
Son	T	C	16: 91,658,169	V1268A	possibly damaging	Het
Sp7	C	A	15: 102,366,445		probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Tet2	T	C	3: 133,488,043	N210S	probably benign	Het
Tkfc	T	C	19: 10,593,336	D492G	probably damaging	Het
Tmc7	G	A	7: 118,561,005	P203L	probably benign	Het
Tshz2	C	A	2: 169,884,604	F373L	probably damaging	Het
Ttc29	T	A	8: 78,315,707	L307Q	probably damaging	Het
Tubd1	G	A	11: 86,548,833	M1I	probably null	Het
Vmn1r62	T	A	7: 5,675,602	M94K	probably damaging	Het
Vmn2r125	T	C	4: 156,350,891	I188T	possibly damaging	Het
Vmn2r5	T	C	3: 64,491,143	D805G	probably damaging	Het
Vmn2r6	A	T	3: 64,556,155	D419E	probably damaging	Het
Vps39	A	T	2: 120,344,206	Y98*	probably null	Het
Wisp2	C	T	2: 163,825,240	R54*	probably null	Het
Zdbf2	G	A	1: 63,308,003	G1847D	probably benign	Het
Zdhhc6	T	C	19: 55,298,807	E407G	probably benign	Het
Zfp407	A	G	18: 84,558,932	I1352T	probably damaging	Het
Zfp607a	A	G	7: 27,879,361	K619E	possibly damaging	Het
Zfp811	A	T	17: 32,798,648	N139K	probably benign	Het

Other mutations in Abat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01635:Abat	APN	16	8614046	missense	probably benign	0.04
IGL01642:Abat	APN	16	8600919	missense	possibly damaging	0.81
IGL02024:Abat	APN	16	8611136	missense	probably damaging	1.00
IGL02071:Abat	APN	16	8582812	missense	probably damaging	1.00
R2853:Abat	UTSW	16	8600968	missense	probably damaging	1.00
R4839:Abat	UTSW	16	8583648	intron	probably benign
R4895:Abat	UTSW	16	8615962	missense	probably benign	0.00
R5378:Abat	UTSW	16	8578277	missense	probably benign	0.00
R5804:Abat	UTSW	16	8578236	nonsense	probably null
R6012:Abat	UTSW	16	8582827	missense	probably damaging	1.00
R6113:Abat	UTSW	16	8572900	missense	probably benign	0.01
R6122:Abat	UTSW	16	8605550	missense	probably benign	0.01
R6190:Abat	UTSW	16	8605608	missense	probably damaging	1.00
R6328:Abat	UTSW	16	8602436	intron	probably benign
R6382:Abat	UTSW	16	8600986	missense	probably benign	0.11
R6426:Abat	UTSW	16	8602436	intron	probably benign
R6427:Abat	UTSW	16	8602436	intron	probably benign
R6428:Abat	UTSW	16	8602436	intron	probably benign
R6738:Abat	UTSW	16	8602436	intron	probably benign
R7009:Abat	UTSW	16	8602367	missense	probably benign	0.05
R7019:Abat	UTSW	16	8618531	nonsense	probably null
R7310:Abat	UTSW	16	8605593	missense	probably null	0.01
R7499:Abat	UTSW	16	8603754	critical splice donor site	probably null
R8122:Abat	UTSW	16	8615897	missense	probably damaging	1.00
R8138:Abat	UTSW	16	8600965	missense	probably benign	0.05
R8948:Abat	UTSW	16	8600941	missense	possibly damaging	0.95
R9323:Abat	UTSW	16	8602371	nonsense	probably null
R9760:Abat	UTSW	16	8581930	critical splice donor site	probably null
Z1177:Abat	UTSW	16	8603753	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTCTGGGACCACCTGTTAAG -3'
(R):5'- AATGCATGCACAATCTGGCTG -3'

Sequencing Primer
(F):5'- CTGTTAAGGACTGAGGGCAC -3'
(R):5'- GCTGTTAGGCAATGTCCTCATGAC -3'

Posted On

2021-08-31