Mutagenetix > Incidental Mutation

Incidental Mutation 'RF005:Gabre'

602799

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 #

RF005 (G1)

Quality Score

214.594

Status

Not validated

Chromosome

Chromosomal Location

71300532-71318433 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

CCGGCT to CCGGCTACGGCT at 71313651 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: 99.4%
20x: 98.6%

Validation Efficiency

94% (65/69)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,847 (GRCm39)		probably benign	Het
A030005L19Rik	CTGCTG	CTGCTGTGGATGCTG	1: 82,891,306 (GRCm39)		probably benign	Het
Abca1	G	T	4: 53,049,125 (GRCm39)	T1651N	probably damaging	Het
Adamtsl3	A	G	7: 82,261,603 (GRCm39)	T40A		Het
Adgra3	A	T	5: 50,170,729 (GRCm39)		probably null	Het
Apcs	A	T	1: 172,721,809 (GRCm39)	M179K	probably damaging	Het
Baiap2	G	A	11: 119,887,355 (GRCm39)	E217K	possibly damaging	Het
Bltp3a	A	T	17: 28,104,505 (GRCm39)	D517V	probably damaging	Het
Ccdc69	A	G	11: 54,951,349 (GRCm39)	L24P	probably damaging	Het
Cdh16	T	G	8: 105,343,684 (GRCm39)	N604T	probably damaging	Het
Cfb	C	T	17: 35,077,022 (GRCm39)	V538I	possibly damaging	Het
Col6a3	A	G	1: 90,738,984 (GRCm39)	S1022P	probably benign	Het
Cpeb1	A	G	7: 81,011,554 (GRCm39)	L129S	possibly damaging	Het
Crybg1	A	G	10: 43,880,741 (GRCm39)	V149A	probably benign	Het
Cyp4f16	C	A	17: 32,764,169 (GRCm39)		probably null	Het
Dlg5	G	A	14: 24,208,561 (GRCm39)	Q882*	probably null	Het
Fsip2	T	A	2: 82,822,876 (GRCm39)	I6203K	probably benign	Het
Gprc5d	A	T	6: 135,093,517 (GRCm39)	L130Q	probably damaging	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Hmcn1	T	A	1: 150,510,897 (GRCm39)	K3609*	probably null	Het
Hsdl2	GCTGCAG	GCTGCAGCAGCAGCCACATCTGCAG	4: 59,610,652 (GRCm39)		probably benign	Het
Kl	A	C	5: 150,876,885 (GRCm39)	Y235S	probably benign	Het
Map6d1	G	A	16: 20,059,750 (GRCm39)	T105I	probably benign	Het
Mast4	GGTGGTGGTGG	GGTGGTGGTGGTGGTGG	13: 102,872,815 (GRCm39)		probably benign	Het
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,406,644 (GRCm39)		probably benign	Het
Mms22l	A	G	4: 24,517,207 (GRCm39)	I363V	probably benign	Het
Myo7a	T	C	7: 97,742,824 (GRCm39)	I391V	probably benign	Het
Nab2	A	T	10: 127,500,233 (GRCm39)	D286E	probably benign	Het
Nrxn1	G	A	17: 90,670,304 (GRCm39)	R1144C	probably damaging	Het
Or51q1	A	G	7: 103,628,768 (GRCm39)	D123G	probably damaging	Het
Or52j3	T	C	7: 102,835,898 (GRCm39)	I30T	possibly damaging	Het
Or5al5	T	C	2: 85,961,414 (GRCm39)	M198V	probably benign	Het
Pan2	G	A	10: 128,151,404 (GRCm39)	E842K	probably benign	Het
Pate11	T	C	9: 36,386,970 (GRCm39)	S13P	possibly damaging	Het
Polr1has	CACCACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCACCAC	17: 37,275,940 (GRCm39)		probably benign	Het
Prex2	A	C	1: 11,255,390 (GRCm39)	D1145A	possibly damaging	Het
Prop1	A	C	11: 50,841,957 (GRCm39)	Y150D	possibly damaging	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,577,464 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,378,735 (GRCm39)	I353M	probably damaging	Het
Rapgef1	C	A	2: 29,597,207 (GRCm39)		probably null	Het
Rgl1	G	A	1: 152,397,114 (GRCm39)	S684L	probably benign	Het
Sbf2	T	A	7: 109,916,215 (GRCm39)	D1552V	probably damaging	Het
Scpppq1	A	C	5: 104,222,725 (GRCm39)		probably null	Het
Serpinh1	C	T	7: 98,995,410 (GRCm39)	V391M	probably damaging	Het
Slc35e4	A	T	11: 3,857,960 (GRCm39)	L215Q	possibly damaging	Het
Tbl3	TCTT	TCTTCTT	17: 24,921,515 (GRCm39)		probably benign	Het
Tex15	T	A	8: 34,066,705 (GRCm39)	M2045K	probably benign	Het
Tmprss15	T	C	16: 78,750,689 (GRCm39)	*1070W	probably null	Het
Trav15-2-dv6-2	GAA	GAACAA	14: 53,887,211 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGAG	GGAGGAG	14: 53,887,208 (GRCm39)		probably benign	Het
Trim33	GCCCCGGCCCCCG	GCCCCG	3: 103,187,528 (GRCm39)		probably null	Het
Triobp	GACAA	GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA	15: 78,851,261 (GRCm39)		probably benign	Het
Tub	C	A	7: 108,621,846 (GRCm39)	Q95K	probably benign	Het
Usp9y	T	A	Y: 1,435,046 (GRCm39)	Q261L	probably benign	Het
Utp20	A	T	10: 88,661,319 (GRCm39)	D29E	probably damaging	Het
Vill	G	A	9: 118,889,507 (GRCm39)	V148M	probably damaging	Het
Vmn2r120	C	T	17: 57,828,991 (GRCm39)	E535K	possibly damaging	Het
Zfp451	A	T	1: 33,815,873 (GRCm39)	Y692*	probably null	Het
Zfp599	A	C	9: 22,165,180 (GRCm39)	V65G	probably benign	Het
Zfp808	T	C	13: 62,319,113 (GRCm39)	V114A	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
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	71,313,777 (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'- GGACTGGGGCTCTGATTTCAT -3'
(R):5'- AACCTCAGCCTCAGCCTCTG -3'

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

Posted On

2019-12-04