Mutagenetix > Incidental Mutation

Incidental Mutation 'RF052:Gabre'

605173

Institutional Source

Beutler Lab

Gene Symbol

Gabre

Ensembl Gene

ENSMUSG00000031340

Gene Name

gamma-aminobutyric acid (GABA) A receptor, subunit epsilon

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

RF052 (G1)

Quality Score

197.466

Status

Not validated

Chromosome

Chromosomal Location

71300532-71318433 bp(-) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GGCTCC to GGCTCCTGCTCC at 71313653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064780]

AlphaFold

A2AMW3

Predicted Effect

probably benign
Transcript: ENSMUST00000064780

SMART Domains

Protein: ENSMUSP00000066543
Gene: ENSMUSG00000031340

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	40	55	N/A	INTRINSIC
low complexity region	83	169	N/A	INTRINSIC
low complexity region	173	219	N/A	INTRINSIC
low complexity region	234	441	N/A	INTRINSIC
Pfam:Neur_chan_LBD	482	688	1.4e-47	PFAM
Pfam:Neur_chan_memb	695	856	2.1e-23	PFAM
transmembrane domain	892	914	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	CCGCCCACG	CCGCCCACGCCCACG	16: 56,447,948 (GRCm39)		probably benign	Het
Chd4	CC	CCACTGGC	6: 125,099,108 (GRCm39)		probably benign	Het
Chga	CAG	CAGAAG	12: 102,527,675 (GRCm39)		probably benign	Het
Cnpy3	CTC	CTCATC	17: 47,047,674 (GRCm39)		probably benign	Het
Cyb5r4	GGATGTGACAGACACACTGCCCAG	GGATGTGACAGACACACTGCCCAGTGATGTGACAGACACACTGCCCAG	9: 86,922,475 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,589 (GRCm39)		probably benign	Het
Gm5591	CACAGGCAGA	CA	7: 38,221,999 (GRCm39)		probably null	Het
Irag2	A	ACCCC	6: 145,106,257 (GRCm39)		probably benign	Het
Lkaaear1	C	T	2: 181,339,226 (GRCm39)	D75N	probably damaging	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,776 (GRCm39)		probably benign	Het
Nusap1	ACGTTAGCAGTGAGGAGCAAGCTGAGA	ACGTTAGCAGTGAGGAGCAAGCTGAGATACGCGTTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,065 (GRCm39)		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,577,475 (GRCm39)		probably benign	Het
Rassf6	CATGGTCCTGTAGAGCAATGGGGATTC	CATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTAATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,775 (GRCm39)		probably benign	Het
Rassf6	CTGTAGAGCAATGGGGATTC	CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC	5: 90,756,782 (GRCm39)		probably benign	Het
Setd1a	G	GTGGTGGTGT	7: 127,384,529 (GRCm39)		probably benign	Het
Supt20	AGCAGC	AGCAGCCGCAGC	3: 54,635,086 (GRCm39)		probably benign	Het
Tnfaip8	ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,900 (GRCm39)		probably null	Het

Other mutations in Gabre

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02176:Gabre	APN	X	71,318,259 (GRCm39)	nonsense	probably null
FR4304:Gabre	UTSW	X	71,313,648 (GRCm39)	small insertion	probably benign
FR4589:Gabre	UTSW	X	71,313,648 (GRCm39)	small insertion	probably benign
FR4589:Gabre	UTSW	X	71,313,636 (GRCm39)	small insertion	probably benign
FR4976:Gabre	UTSW	X	71,314,028 (GRCm39)	small insertion	probably benign
FR4976:Gabre	UTSW	X	71,314,024 (GRCm39)	small insertion	probably benign
R7620:Gabre	UTSW	X	71,313,865 (GRCm39)	missense	unknown
RF002:Gabre	UTSW	X	71,313,663 (GRCm39)	nonsense	probably null
RF005:Gabre	UTSW	X	71,313,651 (GRCm39)	nonsense	probably null
RF009:Gabre	UTSW	X	71,314,319 (GRCm39)	small insertion	probably benign
RF009:Gabre	UTSW	X	71,314,318 (GRCm39)	small deletion	probably benign
RF010:Gabre	UTSW	X	71,313,666 (GRCm39)	small insertion	probably benign
RF013:Gabre	UTSW	X	71,314,022 (GRCm39)	small insertion	probably benign
RF023:Gabre	UTSW	X	71,313,660 (GRCm39)	small insertion	probably benign
RF024:Gabre	UTSW	X	71,313,783 (GRCm39)	frame shift	probably null
RF028:Gabre	UTSW	X	71,314,369 (GRCm39)	small insertion	probably benign
RF029:Gabre	UTSW	X	71,313,665 (GRCm39)	small insertion	probably benign
RF034:Gabre	UTSW	X	71,314,368 (GRCm39)	small insertion	probably benign
RF037:Gabre	UTSW	X	71,313,667 (GRCm39)	small insertion	probably benign
RF041:Gabre	UTSW	X	71,313,655 (GRCm39)	small insertion	probably benign
RF042:Gabre	UTSW	X	71,313,653 (GRCm39)	small insertion	probably benign
RF043:Gabre	UTSW	X	71,313,654 (GRCm39)	small insertion	probably benign
RF044:Gabre	UTSW	X	71,313,667 (GRCm39)	small insertion	probably benign
RF045:Gabre	UTSW	X	71,313,787 (GRCm39)	frame shift	probably null
RF045:Gabre	UTSW	X	71,313,651 (GRCm39)	small insertion	probably benign
RF047:Gabre	UTSW	X	71,314,371 (GRCm39)	nonsense	probably null
RF047:Gabre	UTSW	X	71,313,659 (GRCm39)	small insertion	probably benign
RF049:Gabre	UTSW	X	71,313,883 (GRCm39)	frame shift	probably null
RF050:Gabre	UTSW	X	71,314,347 (GRCm39)	nonsense	probably null
RF051:Gabre	UTSW	X	71,313,655 (GRCm39)	small insertion	probably benign
RF054:Gabre	UTSW	X	71,314,022 (GRCm39)	small insertion	probably benign
RF055:Gabre	UTSW	X	71,313,783 (GRCm39)	frame shift	probably null
RF058:Gabre	UTSW	X	71,313,669 (GRCm39)	small insertion	probably benign
RF059:Gabre	UTSW	X	71,314,370 (GRCm39)	small insertion	probably benign
RF061:Gabre	UTSW	X	71,313,654 (GRCm39)	small insertion	probably benign
RF064:Gabre	UTSW	X	71,313,777 (GRCm39)	frame shift	probably null
RF064:Gabre	UTSW	X	71,313,669 (GRCm39)	nonsense	probably null
X0018:Gabre	UTSW	X	71,313,944 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGGACTGGGGCTCTGATTTC -3'
(R):5'- CTCAGCCTCAGCCTCTGG -3'

Sequencing Primer
(F):5'- GACTGGGGCTCTGATTTCATCTC -3'
(R):5'- TCAGCCTGAGCCACAGC -3'

Posted On

2019-12-04