Mutagenetix > Incidental Mutation

Incidental Mutation 'R6122:Abat'

485795

Institutional Source

Beutler Lab

Gene Symbol

Abat

Ensembl Gene

ENSMUSG00000057880

Gene Name

4-aminobutyrate aminotransferase

Synonyms

9630038C02Rik, GABA-T

MMRRC Submission

044269-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8331293-8439432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8423414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 236 (I236V)

Ref Sequence

ENSEMBL: ENSMUSP00000111505 (fasta)

Gene Model

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

AlphaFold

P61922

Predicted Effect

probably benign
Transcript: ENSMUST00000065987
AA Change: I236V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000063548
Gene: ENSMUSG00000057880
AA Change: I236V

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 benign
Transcript: ENSMUST00000115839
AA Change: I236V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111505
Gene: ENSMUSG00000057880
AA Change: I236V

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: I205V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116686
Gene: ENSMUSG00000057880
AA Change: I205V

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

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,750 (GRCm39)	*301W	probably null	Het
Abca8a	T	C	11: 109,961,249 (GRCm39)	T558A	probably benign	Het
Ace3	A	C	11: 105,885,764 (GRCm39)	M57L	probably benign	Het
Adgrg1	T	C	8: 95,729,129 (GRCm39)	S18P	probably benign	Het
Ahi1	A	G	10: 20,934,064 (GRCm39)	D60G	probably benign	Het
Ap4e1	T	A	2: 126,870,080 (GRCm39)		probably null	Het
Arnt2	C	A	7: 84,010,773 (GRCm39)	K34N	probably damaging	Het
Ascc3	T	A	10: 50,494,021 (GRCm39)	M152K	probably benign	Het
AW551984	A	T	9: 39,505,051 (GRCm39)	F480L	probably benign	Het
Blvrb	G	A	7: 27,158,773 (GRCm39)	A58T	possibly damaging	Het
Bpifa1	C	T	2: 153,985,892 (GRCm39)	T69I	probably benign	Het
Cacna1g	T	A	11: 94,320,997 (GRCm39)	M1366L	probably benign	Het
Ccdc82	A	G	9: 13,266,880 (GRCm39)	I361V	probably benign	Het
Clca4b	T	A	3: 144,631,927 (GRCm39)	I193F	possibly damaging	Het
Crb1	A	T	1: 139,176,686 (GRCm39)	Y371*	probably null	Het
Cul9	T	C	17: 46,832,854 (GRCm39)	D1363G	possibly damaging	Het
Cyp2j8	C	T	4: 96,332,877 (GRCm39)	A490T	probably benign	Het
D430041D05Rik	A	T	2: 104,086,637 (GRCm39)	S780T	probably benign	Het
Fzd5	G	T	1: 64,774,815 (GRCm39)	C315*	probably null	Het
Gabrr1	T	C	4: 33,161,695 (GRCm39)	S340P	probably damaging	Het
Galnt7	T	C	8: 57,979,200 (GRCm39)	D641G	probably damaging	Het
Gm7133	A	G	1: 97,110,948 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,120,602 (GRCm39)	L774P	possibly damaging	Het
Itch	T	A	2: 155,015,985 (GRCm39)	S157T	probably benign	Het
Itgam	A	C	7: 127,684,824 (GRCm39)	D398A	probably damaging	Het
Kalrn	G	T	16: 33,805,561 (GRCm39)	L2659M	possibly damaging	Het
Kcnj14	C	A	7: 45,468,875 (GRCm39)	R210L	possibly damaging	Het
Kmt2d	T	C	15: 98,758,573 (GRCm39)		probably benign	Het
Krt1c	G	C	15: 101,724,349 (GRCm39)	T305S	probably damaging	Het
Mcm3ap	A	G	10: 76,342,441 (GRCm39)	N1645D	probably damaging	Het
Naf1	T	A	8: 67,336,096 (GRCm39)	I341K	probably damaging	Het
Nbea	G	T	3: 55,937,317 (GRCm39)	H765N	probably damaging	Het
Ncapd3	A	G	9: 26,975,278 (GRCm39)	I776V	probably benign	Het
Neo1	A	T	9: 58,824,291 (GRCm39)	D712E	probably benign	Het
Neu1	G	A	17: 35,153,730 (GRCm39)	V385I	probably benign	Het
Or14j3	C	A	17: 37,900,817 (GRCm39)	R142S	probably benign	Het
Or51a6	C	A	7: 102,604,011 (GRCm39)	G273C	probably damaging	Het
Or51a6	A	G	7: 102,604,737 (GRCm39)	Y24H	probably benign	Het
Pgghg	A	C	7: 140,523,308 (GRCm39)	T196P	possibly damaging	Het
Pira2	A	T	7: 3,845,445 (GRCm39)	V313E	probably damaging	Het
Pkd1l2	T	C	8: 117,809,107 (GRCm39)	R28G	probably benign	Het
Pkhd1l1	T	C	15: 44,421,336 (GRCm39)	S3035P	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,509 (GRCm39)	N21K	probably damaging	Het
Prune1	T	C	3: 95,169,554 (GRCm39)	D216G	probably benign	Het
Ptpn23	G	T	9: 110,216,893 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,301,351 (GRCm39)	M668K	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpsa	G	T	9: 119,960,102 (GRCm39)	V222L	probably benign	Het
Septin2	A	G	1: 93,425,098 (GRCm39)	T45A	probably damaging	Het
Slc12a8	A	T	16: 33,445,384 (GRCm39)	D260V	probably damaging	Het
Srrm2	G	T	17: 24,039,330 (GRCm39)	M2087I	possibly damaging	Het
Tg	T	C	15: 66,700,306 (GRCm39)	L88P	probably damaging	Het
Tns1	A	G	1: 73,991,578 (GRCm39)		probably null	Het
Topbp1	A	T	9: 103,224,160 (GRCm39)	D1429V	probably benign	Het
Tprg1	A	G	16: 25,241,151 (GRCm39)		probably null	Het
Trit1	T	C	4: 122,933,261 (GRCm39)	I66T	possibly damaging	Het
Usf3	A	T	16: 44,037,670 (GRCm39)	I717L	probably 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
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'- TGACAGAGCAAGGATTTGAACC -3'
(R):5'- TCTGGGCTCAAACTCAGGATAC -3'

Sequencing Primer
(F):5'- GCAAGGATTTGAACCATTGTCTCTC -3'
(R):5'- GGACCCTAGTTACCTCTTCT -3'

Posted On

2017-08-16