Mutagenetix > Incidental Mutation

Incidental Mutation 'RF029:Gabre'

604290

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 #

RF029 (G1)

Quality Score

214.46

Status

Not validated

Chromosome

Chromosomal Location

72255999-72274803 bp(-) (GRCm38)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GGCTC to GGCTCCTGCTC at 72270059 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: 99.2%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	GGTGGCCAG	GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG	6: 131,552,895		probably benign	Het
Abca17	T	TCCCTC	17: 24,287,727		probably benign	Het
Amot	GGAGCAGCAA	G	X: 145,450,988		probably benign	Het
C1s1	CCCATGGCTC	CC	6: 124,541,351		probably null	Het
Cacna1a	CCA	CCAACA	8: 84,638,724		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,561,026		probably benign	Het
Cyb5r4	CAGA	CAGAGACACTGACCAGGGATGTGATAGA	9: 87,040,430		probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACAGACACACTGCACAGGGA	9: 87,040,442		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,485,833		probably benign	Het
Dnmt1	CGGAGCACAGTTCCTACCTCGTT	CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT	9: 20,910,123		probably null	Het
Eed	C	A	7: 89,955,032	A411S	probably benign	Het
Exd2	CCACAGC	CC	12: 80,475,946		probably null	Het
Fam171b	GCAGC	GCAGCATCAGC	2: 83,812,892		probably benign	Het
Fbrsl1	GCGTGTGCTGGT	GCGTGTGCTGGTTCGTGTGCTGGT	5: 110,378,139		probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,994,008		probably null	Het
Gm47955	G	GTTGTGGCTT	1: 82,960,527		probably benign	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,671,393		probably null	Het
Hic1	CGGGGGGGGGG	CGGGGGGG	11: 75,169,442		probably benign	Het
Ifi208	AGATG	AG	1: 173,677,696		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,125,827		probably benign	Het
Krtap28-10	CACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCAC	1: 83,042,270		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 181,697,579		probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTACAGCTCCAGCT	2: 181,697,588		probably benign	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA	2: 119,627,594		probably benign	Het
Nusap1	CTGAGA	CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA	2: 119,627,605		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pnmal1	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,961,444		probably null	Het
Rasa2	CGC	CGCAGC	9: 96,631,467		probably benign	Het
Rbm12	TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC	2: 156,096,095		probably benign	Het
Reep1	CGCCA	CGCCAGCCA	6: 71,707,966		probably null	Het
Tcof1	CAG	CAGAAG	18: 60,835,735		probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,835,745		probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCT	15: 72,801,323		probably benign	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092		probably benign	Het
Znrd1as	CG	CCACCACCACCACCCCCCCCAGG	17: 36,965,071		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
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
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'- GGGACTGGGGCTCTGATTTCA -3'
(R):5'- AGAACCTCAGCCTCAGCCTC -3'

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

Posted On

2019-12-04