Mutagenetix > Incidental Mutation

Incidental Mutation 'RF043:Gabre'

604941

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 #

RF043 (G1)

Quality Score

214.459

Status

Not validated

Chromosome

Chromosomal Location

72255999-72274803 bp(-) (GRCm38)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GCTCCG to GCTCCGACTCCG at 72270048 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: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,272,561		probably benign	Het
Ankhd1	CGGCGG	CGGCGGTGGCGG	18: 36,560,917		probably benign	Het
Btnl10	CAAA	CAAAAAA	11: 58,923,926		probably benign	Het
Cpne1	TCCAC	TC	2: 156,073,510		probably benign	Het
Cyb5r4	ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,411		probably benign	Het
Cyb5r4	AGACACACTGCCCAGGGA	AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA	9: 87,040,431		probably benign	Het
Dbr1	GAGGAG	GAGGAGCAGGAG	9: 99,583,697		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,485,833		probably benign	Het
Emid1	G	T	11: 5,144,322	P63Q	probably damaging	Het
Gar1	AACTGCC	A	3: 129,830,688		probably benign	Het
Gm10181	GAGAGAGAGAGAGA	G	9: 25,089,459		probably null	Het
Hic1	GGGA	G	11: 75,169,455		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,125,842		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT	9: 106,570,613		probably benign	Het
Krtap4-2	AGGGGCGGCAGC	A	11: 99,634,721		probably null	Het
Lmx1b	CATCTTGATGCCGTCCAA	CA	2: 33,640,509		probably null	Het
Lrch1	TGGTGGTG	T	14: 74,947,575		probably null	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA	11: 58,390,243		probably benign	Het
Mamld1	AGC	AGCTGC	X: 71,118,835		probably benign	Het
Mrgprx1	GAAC	GAACAAC	7: 48,021,509		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,941,016		probably benign	Het
Nusap1	AGTGAGGAGCAAGCTGAGA	AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA	2: 119,627,592		probably benign	Het
P4ha2	GGTGTTG	GG	11: 54,110,250		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Het
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Het
Ptms	TCCTCCTC	TCCTCCTCCTC	6: 124,914,448		probably benign	Het
Rassf6	AATGGGGATTC	AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC	5: 90,608,932		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939		probably benign	Het
Rgs22	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAA	15: 36,010,836		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCGCTC	12: 26,314,014		probably benign	Het
Rpgrip1	GAG	GAGAAG	14: 52,149,395		probably benign	Het
Sgpp1	ACACAC	A	12: 75,722,625		probably null	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC	15: 76,614,870		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846		probably benign	Het
Stard8	GGA	GGATGA	X: 99,066,520		probably benign	Het
Stard8	GA	GAGCA	X: 99,066,527		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC	18: 60,833,572		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,616,036		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Tmed6	AGC	AGCTCGC	8: 107,061,596		probably null	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,305		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,825,731		probably null	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
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
RF058:Gabre	UTSW	X	72270063	small insertion	probably benign
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'- GGACTGGGGCTCTGATTTCAT -3'
(R):5'- AACCTCAGCCTCAGCCTCTG -3'

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

Posted On

2019-12-04