Mutagenetix > Incidental Mutation

Incidental Mutation 'R0740:Get1'

474101

Institutional Source

Beutler Lab

Gene Symbol

Get1

Ensembl Gene

ENSMUSG00000023147

Gene Name

guided entry of tail-anchored proteins factor 1

Synonyms

Chd5, C030018G21Rik, Wrb, 5530402J05Rik

MMRRC Submission

038921-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0740 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95946607-95959052 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to C at 95946798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023913] [ENSMUST00000135448]

AlphaFold

Q8K0D7

Predicted Effect

probably benign
Transcript: ENSMUST00000023913

SMART Domains

Protein: ENSMUSP00000023913
Gene: ENSMUSG00000023147

Domain	Start	End	E-Value	Type
Pfam:CHD5	12	163	1.4e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129569

Predicted Effect

unknown
Transcript: ENSMUST00000135448
AA Change: R41P

SMART Domains

Protein: ENSMUSP00000122059
Gene: ENSMUSG00000023147
AA Change: R41P

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
low complexity region	39	51	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140476

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.2%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc3	G	T	11: 101,223,158 (GRCm39)	V465L	probably benign	Het
C2cd5	T	A	6: 142,981,989 (GRCm39)	N625I	probably damaging	Het
Ccdc60	T	A	5: 116,328,135 (GRCm39)	R110W	probably damaging	Het
Cfap43	A	G	19: 47,824,243 (GRCm39)	F43L	possibly damaging	Het
Crabp2	A	G	3: 87,859,443 (GRCm39)	K31R	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Nlrp3	T	C	11: 59,439,082 (GRCm39)	F220L	probably benign	Het
Pik3c2g	T	C	6: 139,610,791 (GRCm39)		probably null	Het
Rragc	A	G	4: 123,818,556 (GRCm39)	K257R	probably damaging	Het
Scml4	T	C	10: 42,806,559 (GRCm39)	F149S	probably damaging	Het
Tdrd1	A	G	19: 56,827,531 (GRCm39)	K178R	probably damaging	Het
Trappc11	A	T	8: 47,977,623 (GRCm39)	V224D	probably damaging	Het
Zfp964	G	T	8: 70,115,828 (GRCm39)	D143Y	probably damaging	Het

Other mutations in Get1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0413:Get1	UTSW	16	95,954,217 (GRCm39)	missense	probably benign	0.03
R4028:Get1	UTSW	16	95,946,784 (GRCm39)	splice site	probably null
R4170:Get1	UTSW	16	95,954,176 (GRCm39)	missense	probably benign
R4508:Get1	UTSW	16	95,946,899 (GRCm39)	intron	probably benign
R6021:Get1	UTSW	16	95,946,878 (GRCm39)	intron	probably benign
R7191:Get1	UTSW	16	95,953,145 (GRCm39)	missense	possibly damaging	0.90
R7886:Get1	UTSW	16	95,946,768 (GRCm39)	missense	possibly damaging	0.73
R9095:Get1	UTSW	16	95,954,244 (GRCm39)	splice site	probably benign
R9161:Get1	UTSW	16	95,953,139 (GRCm39)	missense	probably damaging	0.99
R9188:Get1	UTSW	16	95,955,363 (GRCm39)	missense	probably benign	0.00
R9244:Get1	UTSW	16	95,955,383 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2017-04-14