Mutagenetix > Incidental Mutation

Incidental Mutation 'RF064:Gabre'

605495

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 #

RF064 (G1)

Quality Score

183.575

Status

Not validated

Chromosome

Chromosomal Location

71300532-71318433 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAGGCT to C at 71313777 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 null
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: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	T	2: 25,337,409 (GRCm39)	E2421D	probably damaging	Het
Acap3	GGCTGCTG	GGCTGCTGCATCCTGCGCTGCTG	4: 155,989,557 (GRCm39)		probably benign	Het
Blm	CCTCCTCCTCC	CCTCCTCCTCCTACTCCTCCTCC	7: 80,162,671 (GRCm39)		probably null	Het
Ccdc170	CAC	CACAAC	10: 4,511,025 (GRCm39)		probably benign	Het
Cgref1	ATTT	ATTTTTT	5: 31,091,118 (GRCm39)		probably benign	Het
Efhd2	GCCGCC	GCCGCCACCGCC	4: 141,602,066 (GRCm39)		probably benign	Het
Fbrsl1	GTGCTGGTGCGT	GTGCTGGTGCGTCTGCTGGTGCGT	5: 110,525,997 (GRCm39)		probably benign	Het
Gucy2d	GG	GGCGGTCCTGG	7: 98,108,250 (GRCm39)		probably benign	Het
Il2	AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTG	3: 37,179,913 (GRCm39)		probably benign	Het
Klra2	AAAGAAATCCA	AAAGAAATCCAAAGAAATCCA	6: 131,198,802 (GRCm39)		probably null	Het
Krtap28-10	CCACAG	CCACAGGCACAG	1: 83,019,852 (GRCm39)		probably benign	Het
Phc1	CTTGCTG	CTTGCTGTTGCTG	6: 122,300,539 (GRCm39)		probably benign	Het
Polr1has	CCACCACCACC	CCACCACCACCCCCACCACCCACACCACCACC	17: 37,275,942 (GRCm39)		probably benign	Het
Spmap2l	GTCCCGCAAGGCCAG	GTCCCGCAAGGCCAGCGATCCTCCCCACTCCCGCAAGGCCAG	5: 77,164,262 (GRCm39)		probably benign	Het
Stard8	GA	GAGTA	X: 98,110,133 (GRCm39)		probably null	Het
Sympk	CCCCACCCCTAGC	CC	7: 18,768,320 (GRCm39)		probably null	Het
Tcof1	GAGATCCCCTTGGC	GAGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAAAGATCCCCTTGGC	18: 60,966,643 (GRCm39)		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGC	18: 60,966,646 (GRCm39)		probably benign	Het
Trim33	CCCCGGCCC	CCCC	3: 103,187,511 (GRCm39)		probably null	Het
Zfp598	CCACCA	CCACCAACACCA	17: 24,899,757 (GRCm39)		probably benign	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
RF052:Gabre	UTSW	X	71,313,653 (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	71,313,669 (GRCm39)	nonsense	probably null
X0018:Gabre	UTSW	X	71,313,944 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGGACTGGGGCTCTGATTTCA -3'
(R):5'- CCTCAGCCTCAGCCTCTGG -3'

Sequencing Primer
(F):5'- ACTGGGGCTCTGATTTCATCTCTG -3'
(R):5'- ACCTGAGCCTCAGCCTGATC -3'

Posted On

2019-12-04