Mutagenetix > Incidental Mutation

Incidental Mutation 'RF041:Gabre'

604852

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 #

RF041 (G1)

Quality Score

137.525

Status

Not validated

Chromosome

Chromosomal Location

71300532-71318433 bp(-) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

CTCCGG to CTCCGGATCCGG at 71313655 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 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	TGAGGA	TGA	12: 72,928,050 (GRCm39)		probably benign	Het
5430401F13Rik	CCAGCAAAAACAGAAAGGAAAAGG	CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG	6: 131,529,836 (GRCm39)		probably benign	Het
5430401F13Rik	AGGTGGCCAG	AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,857 (GRCm39)		probably benign	Het
5430401F13Rik	AAAGGTGGC	AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC	6: 131,529,855 (GRCm39)		probably benign	Het
Abcf1	CTCTTC	CTC	17: 36,274,093 (GRCm39)		probably benign	Het
Acap3	GGCTGC	GGCTGCGGCATCCTGTGCTGC	4: 155,989,557 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,257 (GRCm39)		probably benign	Het
Arid1b	CGG	CGGTGG	17: 5,045,870 (GRCm39)		probably benign	Het
AY761185	CACTGTGGG	C	8: 21,433,928 (GRCm39)		probably null	Het
Btnl1	C	T	17: 34,600,342 (GRCm39)	T246M	probably benign	Het
Cdc40	C	T	10: 40,719,119 (GRCm39)	D337N	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cul9	CCT	CCTACT	17: 46,811,780 (GRCm39)		probably null	Het
Defb22	GCTGGCCTTTGC	GCTGGCCTTTGCCGCAGACCTGGCCTTTGC	2: 152,327,743 (GRCm39)		probably benign	Het
Dmkn	GGGGTGGAAG	GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG	7: 30,466,598 (GRCm39)		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT	17: 23,981,135 (GRCm39)		probably null	Het
Flywch1	GT	GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT	17: 23,981,151 (GRCm39)		probably null	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,489,122 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Il2	GG	GGGCTTGAAGTGCG	3: 37,179,991 (GRCm39)		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT	9: 106,447,812 (GRCm39)		probably null	Het
Kif12	GGC	GGCCTCCACCCGGCGTGC	4: 63,089,662 (GRCm39)		probably benign	Het
Kmt2c	TG	TGTTGCAG	5: 25,520,773 (GRCm39)		probably benign	Het
Lce1m	CTGCTGCTGCC	CTGCTGCTGCCCTTGCTGCTGCC	3: 92,925,448 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,432 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,435 (GRCm39)		probably benign	Het
Med12l	AGC	AGCTGC	3: 59,183,406 (GRCm39)		probably benign	Het
Med12l	GC	GCACC	3: 59,183,416 (GRCm39)		probably benign	Het
Nefh	CCTCACCTGGGG	CCTCACCTGGGGCCTTGGGCTCACCTGGGG	11: 4,891,039 (GRCm39)		probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)		probably null	Het
Ngfr	CAGG	C	11: 95,478,337 (GRCm39)		probably benign	Het
Nusap1	GAGA	GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA	2: 119,458,088 (GRCm39)		probably null	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,458,060 (GRCm39)		probably benign	Het
Nusap1	GTGAGGAGCAAGCTGA	GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA	2: 119,458,074 (GRCm39)		probably benign	Het
Phc1	TG	TGCTGCGG	6: 122,300,559 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,695,369 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Setd1a	GGTGGTGGT	GGTGGTGGTCGTGGTGGT	7: 127,384,504 (GRCm39)		probably benign	Het
Sfr1	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	19: 47,721,307 (GRCm39)		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC	15: 76,499,066 (GRCm39)		probably benign	Het
Smarca2	AGC	AGCCCCTGC	19: 26,608,421 (GRCm39)		probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC	18: 60,966,644 (GRCm39)		probably benign	Het
Tcof1	CCCCTTG	CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG	18: 60,966,648 (GRCm39)		probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,025 (GRCm39)		probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)		probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,197,771 (GRCm39)		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	4: 43,177,338 (GRCm39)		probably benign	Het
Usp19	GTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGT	9: 108,371,187 (GRCm39)		unknown	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
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'- CCTCAGCCTCAGCCTCTGG -3'

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

Posted On

2019-12-04