Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03342:Mtrf1'

417272

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 #

IGL03342

Quality Score

Status

Chromosome

Chromosomal Location

79635212-79661027 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79653420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 365 (D365G)

Ref Sequence

ENSEMBL: ENSMUSP00000022600 (fasta)

Gene Model

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

AlphaFold

Q8K126

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022600
AA Change: D365G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: D365G

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,178,517 (GRCm39)	T1152M	possibly damaging	Het
Abcg2	G	T	6: 58,642,120 (GRCm39)	R136I	probably damaging	Het
Acap2	A	G	16: 30,924,310 (GRCm39)	V641A	probably damaging	Het
Afg3l2	A	T	18: 67,540,390 (GRCm39)	D706E	probably benign	Het
Bbs1	A	T	19: 4,947,621 (GRCm39)	L311Q	probably damaging	Het
Cacna1e	A	G	1: 154,342,690 (GRCm39)		probably null	Het
Car2	A	T	3: 14,960,629 (GRCm39)	D129V	probably benign	Het
Catsper2	T	C	2: 121,237,217 (GRCm39)	I228V	probably damaging	Het
Cdhr3	C	A	12: 33,101,054 (GRCm39)	R452M	probably benign	Het
Chrm1	A	T	19: 8,656,672 (GRCm39)	Q459L	probably benign	Het
Cnbd1	C	T	4: 19,098,264 (GRCm39)		probably benign	Het
Coa7	A	G	4: 108,189,426 (GRCm39)	D42G	probably damaging	Het
Ctsz	T	C	2: 174,270,933 (GRCm39)	Y187C	possibly damaging	Het
Cxcr6	C	T	9: 123,639,472 (GRCm39)	Q165*	probably null	Het
Cyp3a11	G	A	5: 145,791,927 (GRCm39)	P489S	probably damaging	Het
Cyp4f15	A	T	17: 32,916,910 (GRCm39)	I276F	probably damaging	Het
Dsg1b	T	A	18: 20,542,517 (GRCm39)	M1008K	probably benign	Het
Dsg4	T	A	18: 20,584,880 (GRCm39)	I198N	probably damaging	Het
Dtymk	C	A	1: 93,722,541 (GRCm39)	E87D	probably benign	Het
Dysf	T	A	6: 84,167,854 (GRCm39)	D1749E	probably benign	Het
Dzip3	G	T	16: 48,749,986 (GRCm39)	Q1050K	probably damaging	Het
Echs1	C	T	7: 139,690,026 (GRCm39)		probably benign	Het
Enc1	T	A	13: 97,382,978 (GRCm39)	I496N	possibly damaging	Het
Epc2	A	T	2: 49,426,658 (GRCm39)	Y139F	probably benign	Het
Exo1	A	T	1: 175,719,693 (GRCm39)	N246I	probably benign	Het
Flg2	A	G	3: 93,108,542 (GRCm39)	K190R	probably damaging	Het
Gm5424	A	T	10: 61,907,971 (GRCm39)		noncoding transcript	Het
Gpbp1l1	A	C	4: 116,431,740 (GRCm39)	T133P	probably benign	Het
Gpr155	A	G	2: 73,180,022 (GRCm39)	F146S	probably damaging	Het
Grm1	T	A	10: 10,955,715 (GRCm39)	I190L	probably benign	Het
Hif3a	C	T	7: 16,775,047 (GRCm39)	R515H	possibly damaging	Het
Itprid2	G	A	2: 79,490,796 (GRCm39)	M971I	probably damaging	Het
Kdm5b	G	A	1: 134,530,314 (GRCm39)	D442N	probably benign	Het
Manba	A	T	3: 135,223,748 (GRCm39)	I212F	possibly damaging	Het
Map3k13	A	G	16: 21,710,981 (GRCm39)	E88G	possibly damaging	Het
Mapk7	A	G	11: 61,382,216 (GRCm39)	L163P	probably damaging	Het
Med1	A	T	11: 98,080,006 (GRCm39)		probably null	Het
Myadm	C	T	7: 3,345,403 (GRCm39)	T55I	possibly damaging	Het
Nlgn1	A	T	3: 26,187,411 (GRCm39)	I158N	probably damaging	Het
Nlrc4	A	G	17: 74,752,313 (GRCm39)	L690P	probably damaging	Het
Nlrp1a	A	T	11: 71,013,617 (GRCm39)	D544E	probably benign	Het
Nlrp2	A	T	7: 5,320,482 (GRCm39)	L20Q	probably damaging	Het
Or1e30	T	A	11: 73,678,309 (GRCm39)	S182T	probably benign	Het
Or8k21	A	T	2: 86,145,579 (GRCm39)	I17N	possibly damaging	Het
Or9i16	A	G	19: 13,864,801 (GRCm39)	Y258H	probably damaging	Het
Padi3	G	A	4: 140,537,909 (GRCm39)	Q4*	probably null	Het
Pfkl	A	T	10: 77,841,309 (GRCm39)	I13K	possibly damaging	Het
Pinx1	A	G	14: 64,157,018 (GRCm39)	D315G	probably benign	Het
Prickle3	A	G	X: 7,529,735 (GRCm39)	D47G	probably benign	Het
Psmd10	A	T	X: 139,857,403 (GRCm39)	V5E	probably damaging	Het
Rasgrf2	C	A	13: 92,136,098 (GRCm39)	V605F	probably damaging	Het
Smarca1	G	T	X: 46,981,146 (GRCm39)	A84D	probably damaging	Het
Sp2	A	G	11: 96,852,588 (GRCm39)	V112A	probably damaging	Het
Srgap3	G	A	6: 112,752,648 (GRCm39)	R279C	probably damaging	Het
Trav21-dv12	T	C	14: 54,113,501 (GRCm39)	L10P	unknown	Het
Vmn1r236	A	T	17: 21,507,236 (GRCm39)	H118L	probably benign	Het
Vmn2r120	A	G	17: 57,816,372 (GRCm39)	M661T	probably benign	Het
Vmn2r17	A	T	5: 109,575,782 (GRCm39)	I218F	probably damaging	Het
Vmn2r41	G	T	7: 8,141,682 (GRCm39)	A594D	probably damaging	Het
Zc2hc1a	A	G	3: 7,589,283 (GRCm39)	E103G	possibly damaging	Het
Zfp62	G	T	11: 49,106,298 (GRCm39)	G130*	probably null	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
IGL02290:Mtrf1	APN	14	79,639,251 (GRCm39)	nonsense	probably null
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
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

2016-08-02