Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02290:Mtrf1'

290057

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtrf1

Ensembl Gene

ENSMUSG00000022022

Gene Name

mitochondrial translational release factor 1

Synonyms

A830062K05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL02290

Quality Score

Status

Chromosome

Chromosomal Location

79635212-79661027 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 79639251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 128 (E128*)

Ref Sequence

ENSEMBL: ENSMUSP00000022600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022600]

AlphaFold

Q8K126

Predicted Effect

probably null
Transcript: ENSMUST00000022600
AA Change: E128*

SMART Domains

Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: E128*

Domain	Start	End	E-Value	Type
low complexity region	104	119	N/A	INTRINSIC
low complexity region	122	133	N/A	INTRINSIC
PCRF	139	255	5.96e-27	SMART
Pfam:RF-1	290	400	2.6e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227610

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	G	A	13: 61,001,344 (GRCm39)	P128S	probably damaging	Het
Abca9	A	G	11: 110,026,177 (GRCm39)	V961A	probably damaging	Het
Atp2a1	A	G	7: 126,051,821 (GRCm39)		probably benign	Het
Col25a1	T	A	3: 130,313,460 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,144,163 (GRCm39)	D617G	probably damaging	Het
Cpz	T	C	5: 35,668,486 (GRCm39)	T375A	probably benign	Het
Faxc	T	A	4: 21,993,390 (GRCm39)	S345T	possibly damaging	Het
Ganc	C	T	2: 120,278,904 (GRCm39)	T707I	possibly damaging	Het
Hars2	T	C	18: 36,918,679 (GRCm39)	V55A	possibly damaging	Het
Lama4	A	T	10: 38,893,360 (GRCm39)	I156F	probably benign	Het
Ndc1	T	C	4: 107,252,192 (GRCm39)		probably benign	Het
Ntrk1	A	C	3: 87,689,078 (GRCm39)	N537K	probably benign	Het
Or1e17	A	G	11: 73,831,695 (GRCm39)	I208V	probably benign	Het
Or4p23	T	C	2: 88,576,729 (GRCm39)	T168A	probably benign	Het
Scn11a	A	G	9: 119,603,508 (GRCm39)	I1053T	probably damaging	Het
Slc27a4	T	A	2: 29,705,741 (GRCm39)	L643Q	probably damaging	Het
Tsnaxip1	C	A	8: 106,560,119 (GRCm39)	P24T	probably benign	Het
Vmn1r78	A	G	7: 11,887,082 (GRCm39)	E231G	probably damaging	Het
Vmn2r124	T	G	17: 18,293,597 (GRCm39)	H561Q	probably benign	Het
Zbtb12	G	A	17: 35,114,448 (GRCm39)	A78T	probably damaging	Het
Zp3r	C	T	1: 130,547,102 (GRCm39)	V25I	possibly damaging	Het

Other mutations in Mtrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Mtrf1	APN	14	79,660,865 (GRCm39)	missense	probably benign	0.10
IGL01478:Mtrf1	APN	14	79,640,360 (GRCm39)	splice site	probably benign
IGL01866:Mtrf1	APN	14	79,638,948 (GRCm39)	missense	probably benign
IGL02929:Mtrf1	APN	14	79,640,273 (GRCm39)	missense	probably benign	0.00
IGL03342:Mtrf1	APN	14	79,653,312 (GRCm39)	splice site	probably null
IGL03342:Mtrf1	APN	14	79,653,311 (GRCm39)	splice site	probably benign
IGL03342:Mtrf1	APN	14	79,653,420 (GRCm39)	missense	possibly damaging	0.80
R0212:Mtrf1	UTSW	14	79,656,719 (GRCm39)	missense	probably benign	0.02
R0560:Mtrf1	UTSW	14	79,644,290 (GRCm39)	missense	probably damaging	1.00
R0604:Mtrf1	UTSW	14	79,653,327 (GRCm39)	missense	possibly damaging	0.92
R0669:Mtrf1	UTSW	14	79,656,708 (GRCm39)	nonsense	probably null
R0981:Mtrf1	UTSW	14	79,639,030 (GRCm39)	missense	probably benign	0.04
R1837:Mtrf1	UTSW	14	79,639,273 (GRCm39)	missense	possibly damaging	0.89
R1969:Mtrf1	UTSW	14	79,639,111 (GRCm39)	missense	probably damaging	1.00
R3883:Mtrf1	UTSW	14	79,656,707 (GRCm39)	missense	probably damaging	1.00
R4739:Mtrf1	UTSW	14	79,650,520 (GRCm39)	missense	probably damaging	1.00
R4748:Mtrf1	UTSW	14	79,649,090 (GRCm39)	missense	probably damaging	1.00
R4780:Mtrf1	UTSW	14	79,639,128 (GRCm39)	missense	probably benign	0.02
R4965:Mtrf1	UTSW	14	79,644,027 (GRCm39)	missense	probably benign
R5616:Mtrf1	UTSW	14	79,638,885 (GRCm39)	missense	possibly damaging	0.68
R6530:Mtrf1	UTSW	14	79,640,331 (GRCm39)	missense	possibly damaging	0.89
R6776:Mtrf1	UTSW	14	79,650,521 (GRCm39)	missense	probably damaging	1.00
R7095:Mtrf1	UTSW	14	79,660,931 (GRCm39)	frame shift	probably null
R7182:Mtrf1	UTSW	14	79,660,904 (GRCm39)	missense	possibly damaging	0.60
R7254:Mtrf1	UTSW	14	79,660,931 (GRCm39)	frame shift	probably null
R7871:Mtrf1	UTSW	14	79,644,378 (GRCm39)	missense	probably benign	0.19
R8249:Mtrf1	UTSW	14	79,638,919 (GRCm39)	missense	probably benign	0.23
R9593:Mtrf1	UTSW	14	79,656,664 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16