Mutagenetix > Incidental Mutation

Incidental Mutation 'RF058:Gabre'

605342

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 #

RF058 (G1)

Quality Score

214.461

Status

Not validated

Chromosome

Chromosomal Location

72255999-72274803 bp(-) (GRCm38)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

C to CCGGCTG at 72270063 bp (GRCm38)

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: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
3110021N24Rik	GAGCGCGGCC	G	4: 108,780,629	probably benign	Het
5430401F13Rik	AAGGAAAAGGTGGCCAG	AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG	6: 131,552,887	probably benign	Het
5430401F13Rik	CAG	CAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,901	probably benign	Het
Alg9	GGC	GGCTGC	9: 50,775,427	probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 4,995,583	probably benign	Het
Chd4	GC	GCTCCCTC	6: 125,122,131	probably benign	Het
Chga	CAG	CAGAAG	12: 102,561,416	probably benign	Het
Cort	GCCCACTCGT	G	4: 149,125,412	probably benign	Het
Flywch1	GT	GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT	17: 23,762,177	probably null	Het
Gab3	TCT	TCTACT	X: 75,000,002	probably benign	Het
Haus4	CACTTAAAAAAAAAA	CA	14: 54,550,035	probably benign	Het
Il2	AG	AGGGCTTGAAGTGG	3: 37,125,817	probably benign	Het
Il2	CTTGAAGTGG	CTTGAAGTGGGGATTGAAGTGG	3: 37,125,821	probably benign	Het
Kri1	TCCTCCTCC	TC	9: 21,281,066	probably null	Het
Krtap28-10	ACAGCCACCACAGCCACAGCCACCACAGC	ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC	1: 83,042,262	probably benign	Het
Mbd1	CGTCTTCGTCTGCATCTGCATCTGCA	C	18: 74,273,609	probably null	Het
Nefh	CCTC	CCTCGCCTGGGGACTTGGACTC	11: 4,941,021	probably benign	Het
Rtbdn	GCAGCG	GCAGCGACAGCG	8: 84,956,172	probably benign	Het
Setd1a	GTGGTGGT	GTGGTGGTATTGGTGGT	7: 127,785,318	probably benign	Het
Treml1	ACCT	A	17: 48,359,947	probably null	Het
Triobp	CTCCCTGTGCCCAAC	CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC	15: 78,967,044	probably benign	Het
Zfp598	CCCACCACCACAACCACCACCACCACCACCAC	CCCACCACCACCACCACAACCACCACCACCACCACCAC	17: 24,680,761	probably benign	Het

Other mutations in Gabre

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02176:Gabre	APN	X	72274653	nonsense	probably null
FR4304:Gabre	UTSW	X	72270042	small insertion	probably benign
FR4589:Gabre	UTSW	X	72270030	small insertion	probably benign
FR4589:Gabre	UTSW	X	72270042	small insertion	probably benign
FR4976:Gabre	UTSW	X	72270418	small insertion	probably benign
FR4976:Gabre	UTSW	X	72270422	small insertion	probably benign
R7620:Gabre	UTSW	X	72270259	missense	unknown
RF002:Gabre	UTSW	X	72270057	nonsense	probably null
RF005:Gabre	UTSW	X	72270045	nonsense	probably null
RF009:Gabre	UTSW	X	72270712	small deletion	probably benign
RF009:Gabre	UTSW	X	72270713	small insertion	probably benign
RF010:Gabre	UTSW	X	72270060	small insertion	probably benign
RF013:Gabre	UTSW	X	72270416	small insertion	probably benign
RF023:Gabre	UTSW	X	72270054	small insertion	probably benign
RF024:Gabre	UTSW	X	72270177	frame shift	probably null
RF028:Gabre	UTSW	X	72270763	small insertion	probably benign
RF029:Gabre	UTSW	X	72270059	small insertion	probably benign
RF034:Gabre	UTSW	X	72270762	small insertion	probably benign
RF037:Gabre	UTSW	X	72270061	small insertion	probably benign
RF041:Gabre	UTSW	X	72270049	small insertion	probably benign
RF042:Gabre	UTSW	X	72270047	small insertion	probably benign
RF043:Gabre	UTSW	X	72270048	small insertion	probably benign
RF044:Gabre	UTSW	X	72270061	small insertion	probably benign
RF045:Gabre	UTSW	X	72270045	small insertion	probably benign
RF045:Gabre	UTSW	X	72270181	frame shift	probably null
RF047:Gabre	UTSW	X	72270053	small insertion	probably benign
RF047:Gabre	UTSW	X	72270765	nonsense	probably null
RF049:Gabre	UTSW	X	72270277	frame shift	probably null
RF050:Gabre	UTSW	X	72270741	nonsense	probably null
RF051:Gabre	UTSW	X	72270049	small insertion	probably benign
RF052:Gabre	UTSW	X	72270047	small insertion	probably benign
RF054:Gabre	UTSW	X	72270416	small insertion	probably benign
RF055:Gabre	UTSW	X	72270177	frame shift	probably null
RF059:Gabre	UTSW	X	72270764	small insertion	probably benign
RF061:Gabre	UTSW	X	72270048	small insertion	probably benign
RF064:Gabre	UTSW	X	72270063	nonsense	probably null
RF064:Gabre	UTSW	X	72270171	frame shift	probably null
X0018:Gabre	UTSW	X	72270338	missense	unknown

Predicted Primers

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

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

Posted On

2019-12-04