Mutagenetix > Incidental Mutation

Incidental Mutation 'R6738:Abat'

530336

Institutional Source

Beutler Lab

Gene Symbol

Abat

Ensembl Gene

ENSMUSG00000057880

Gene Name

4-aminobutyrate aminotransferase

Synonyms

9630038C02Rik, GABA-T

MMRRC Submission

044856-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8331293-8439432 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 8420300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116686 (fasta)

Gene Model

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

AlphaFold

P61922

Predicted Effect

probably benign
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

unknown
Transcript: ENSMUST00000115838
AA Change: H200Y

SMART Domains

Protein: ENSMUSP00000111504
Gene: ENSMUSG00000057880
AA Change: H200Y

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

Predicted Effect

probably benign
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 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

unknown
Transcript: ENSMUST00000144444
AA Change: H104Y

SMART Domains

Protein: ENSMUSP00000121881
Gene: ENSMUSG00000057880
AA Change: H104Y

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,684,586 (GRCm39)	Y454H	probably damaging	Het
Ambp	A	T	4: 63,067,711 (GRCm39)	D166E	probably benign	Het
Amigo2	A	G	15: 97,143,345 (GRCm39)	V359A	possibly damaging	Het
Ankrd11	A	T	8: 123,618,660 (GRCm39)	S1710T	probably damaging	Het
Ankrd31	T	C	13: 97,040,635 (GRCm39)	S1713P	possibly damaging	Het
Arhgap45	A	T	10: 79,863,431 (GRCm39)	K758M	probably damaging	Het
Bclaf1	T	C	10: 20,199,515 (GRCm39)	I304T	possibly damaging	Het
C1ra	A	G	6: 124,494,718 (GRCm39)	Y327C	probably damaging	Het
Ccdc73	C	T	2: 104,822,433 (GRCm39)	S794L	probably benign	Het
Cd24a	A	G	10: 43,458,672 (GRCm39)	N48D	possibly damaging	Het
Col11a1	A	G	3: 113,906,116 (GRCm39)		probably benign	Het
Cyp11b2	G	A	15: 74,725,363 (GRCm39)	T252I	possibly damaging	Het
Dlx2	A	G	2: 71,376,406 (GRCm39)	Y111H	probably benign	Het
Dsp	T	C	13: 38,376,186 (GRCm39)	S1324P	possibly damaging	Het
Esyt3	A	T	9: 99,202,346 (GRCm39)	F522I	probably damaging	Het
Fam193b	C	T	13: 55,698,174 (GRCm39)	A45T	probably benign	Het
Flnb	A	G	14: 7,904,536 (GRCm38)	T980A	probably benign	Het
Gabrb2	G	T	11: 42,484,758 (GRCm39)	A272S	possibly damaging	Het
H2al2a	G	T	2: 18,001,429 (GRCm39)	Q86K	possibly damaging	Het
Ikbkb	T	G	8: 23,165,052 (GRCm39)	I243L	probably damaging	Het
Il18r1	A	G	1: 40,537,816 (GRCm39)	E527G	probably benign	Het
Krt35	A	T	11: 99,984,535 (GRCm39)	V320D	probably damaging	Het
Krt76	C	T	15: 101,795,913 (GRCm39)	R419H	probably benign	Het
Lrp2	T	A	2: 69,288,832 (GRCm39)	Y3678F	probably damaging	Het
Mab21l4	G	A	1: 93,087,707 (GRCm39)	L49F	probably benign	Het
Mnat1	T	G	12: 73,319,246 (GRCm39)	S290A	probably benign	Het
Mptx2	T	C	1: 173,102,422 (GRCm39)	E89G	probably benign	Het
Myom1	T	A	17: 71,407,393 (GRCm39)		probably null	Het
Naaladl2	A	G	3: 24,225,806 (GRCm39)	V541A	probably benign	Het
Nbeal2	T	C	9: 110,465,973 (GRCm39)	T851A	possibly damaging	Het
Ncoa4	A	G	14: 31,892,750 (GRCm39)	Y11C	probably benign	Het
Ntn5	T	A	7: 45,343,780 (GRCm39)		probably null	Het
Or10d4c	A	G	9: 39,557,957 (GRCm39)		probably benign	Het
Or1j18	C	T	2: 36,624,444 (GRCm39)	T37I	probably benign	Het
Otop2	A	G	11: 115,220,318 (GRCm39)	Y386C	probably damaging	Het
Ppp2r1a	T	A	17: 21,174,979 (GRCm39)		probably null	Het
Prkd2	C	A	7: 16,599,830 (GRCm39)	N764K	possibly damaging	Het
Ralgapa1	A	G	12: 55,809,512 (GRCm39)	L421S	probably damaging	Het
Ric3	G	A	7: 108,647,269 (GRCm39)	R184*	probably null	Het
Sfswap	A	G	5: 129,618,505 (GRCm39)	K480E	probably damaging	Het
Siah2	A	G	3: 58,598,974 (GRCm39)	V88A	probably benign	Het
Slc22a16	T	C	10: 40,461,298 (GRCm39)	F367L	probably damaging	Het
Slc23a2	T	C	2: 131,920,356 (GRCm39)	D183G	probably benign	Het
Svep1	T	C	4: 58,123,180 (GRCm39)	N712S	possibly damaging	Het
Tex21	A	G	12: 76,286,283 (GRCm39)	V72A	probably benign	Het
Tfap4	A	G	16: 4,367,311 (GRCm39)	Y184H	probably damaging	Het
Timeless	T	C	10: 128,076,504 (GRCm39)	Y138H	probably damaging	Het
Tln2	A	T	9: 67,293,946 (GRCm39)	N227K	possibly damaging	Het
Trip10	C	T	17: 57,563,899 (GRCm39)	P342S	probably benign	Het
Ttc6	A	T	12: 57,735,426 (GRCm39)	E1156V	probably damaging	Het
Ttn	T	C	2: 76,728,472 (GRCm39)		probably benign	Het
Vmn2r109	G	A	17: 20,774,785 (GRCm39)	S190L	possibly damaging	Het
Wdr54	A	G	6: 83,132,109 (GRCm39)	S99P	probably damaging	Het
Ythdf2	A	C	4: 131,932,272 (GRCm39)	I296R	probably benign	Het
Zfp445	A	G	9: 122,691,123 (GRCm39)	V24A	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
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
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'- AAGTACTCATCCTGGACCCC -3'
(R):5'- GTTGAAATGGAACGATTTATGGCAG -3'

Sequencing Primer
(F):5'- ATCCTGGACCCCTCTGCAG -3'
(R):5'- CTGATCAGGACTGCCTAGGTATAC -3'

Posted On

2018-08-01