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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL03342

Quality Score

Status

Chromosome

Chromosomal Location

79397772-79423587 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79415980 bp (GRCm38)

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: 110,287,691	T1152M	possibly damaging	Het
Abcg2	G	T	6: 58,665,135	R136I	probably damaging	Het
Acap2	A	G	16: 31,105,492	V641A	probably damaging	Het
Afg3l2	A	T	18: 67,407,320	D706E	probably benign	Het
Bbs1	A	T	19: 4,897,593	L311Q	probably damaging	Het
Cacna1e	A	G	1: 154,466,944		probably null	Het
Car2	A	T	3: 14,895,569	D129V	probably benign	Het
Catsper2	T	C	2: 121,406,736	I228V	probably damaging	Het
Cdhr3	C	A	12: 33,051,055	R452M	probably benign	Het
Chrm1	A	T	19: 8,679,308	Q459L	probably benign	Het
Cnbd1	C	T	4: 19,098,264		probably benign	Het
Coa7	A	G	4: 108,332,229	D42G	probably damaging	Het
Ctsz	T	C	2: 174,429,140	Y187C	possibly damaging	Het
Cxcr6	C	T	9: 123,810,407	Q165*	probably null	Het
Cyp3a11	G	A	5: 145,855,117	P489S	probably damaging	Het
Cyp4f15	A	T	17: 32,697,936	I276F	probably damaging	Het
Dsg1b	T	A	18: 20,409,460	M1008K	probably benign	Het
Dsg4	T	A	18: 20,451,823	I198N	probably damaging	Het
Dtymk	C	A	1: 93,794,819	E87D	probably benign	Het
Dysf	T	A	6: 84,190,872	D1749E	probably benign	Het
Dzip3	G	T	16: 48,929,623	Q1050K	probably damaging	Het
Echs1	C	T	7: 140,110,113		probably benign	Het
Enc1	T	A	13: 97,246,470	I496N	possibly damaging	Het
Epc2	A	T	2: 49,536,646	Y139F	probably benign	Het
Exo1	A	T	1: 175,892,127	N246I	probably benign	Het
Flg2	A	G	3: 93,201,235	K190R	probably damaging	Het
Gm5424	A	T	10: 62,072,192		noncoding transcript	Het
Gpbp1l1	A	C	4: 116,574,543	T133P	probably benign	Het
Gpr155	A	G	2: 73,349,678	F146S	probably damaging	Het
Grm1	T	A	10: 11,079,971	I190L	probably benign	Het
Hif3a	C	T	7: 17,041,122	R515H	possibly damaging	Het
Kdm5b	G	A	1: 134,602,576	D442N	probably benign	Het
Manba	A	T	3: 135,517,987	I212F	possibly damaging	Het
Map3k13	A	G	16: 21,892,231	E88G	possibly damaging	Het
Mapk7	A	G	11: 61,491,390	L163P	probably damaging	Het
Med1	A	T	11: 98,189,180		probably null	Het
Myadm	C	T	7: 3,296,887	T55I	possibly damaging	Het
Nlgn1	A	T	3: 26,133,262	I158N	probably damaging	Het
Nlrc4	A	G	17: 74,445,318	L690P	probably damaging	Het
Nlrp1a	A	T	11: 71,122,791	D544E	probably benign	Het
Nlrp2	A	T	7: 5,317,483	L20Q	probably damaging	Het
Olfr1053	A	T	2: 86,315,235	I17N	possibly damaging	Het
Olfr1504	A	G	19: 13,887,437	Y258H	probably damaging	Het
Olfr390	T	A	11: 73,787,483	S182T	probably benign	Het
Padi3	G	A	4: 140,810,598	Q4*	probably null	Het
Pfkl	A	T	10: 78,005,475	I13K	possibly damaging	Het
Pinx1	A	G	14: 63,919,569	D315G	probably benign	Het
Prickle3	A	G	X: 7,663,496	D47G	probably benign	Het
Psmd10	A	T	X: 140,956,654	V5E	probably damaging	Het
Rasgrf2	C	A	13: 91,987,979	V605F	probably damaging	Het
Smarca1	G	T	X: 47,892,269	A84D	probably damaging	Het
Sp2	A	G	11: 96,961,762	V112A	probably damaging	Het
Srgap3	G	A	6: 112,775,687	R279C	probably damaging	Het
Ssfa2	G	A	2: 79,660,452	M971I	probably damaging	Het
Trav21-dv12	T	C	14: 53,876,044	L10P	unknown	Het
Vmn1r236	A	T	17: 21,286,974	H118L	probably benign	Het
Vmn2r120	A	G	17: 57,509,372	M661T	probably benign	Het
Vmn2r17	A	T	5: 109,427,916	I218F	probably damaging	Het
Vmn2r41	G	T	7: 8,138,683	A594D	probably damaging	Het
Zc2hc1a	A	G	3: 7,524,223	E103G	possibly damaging	Het
Zfp62	G	T	11: 49,215,471	G130*	probably null	Het

Other mutations in Mtrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Mtrf1	APN	14	79423425	missense	probably benign	0.10
IGL01478:Mtrf1	APN	14	79402920	splice site	probably benign
IGL01866:Mtrf1	APN	14	79401508	missense	probably benign
IGL02290:Mtrf1	APN	14	79401811	nonsense	probably null
IGL02929:Mtrf1	APN	14	79402833	missense	probably benign	0.00
IGL03342:Mtrf1	APN	14	79415871	splice site	probably benign
IGL03342:Mtrf1	APN	14	79415872	splice site	probably null
R0212:Mtrf1	UTSW	14	79419279	missense	probably benign	0.02
R0560:Mtrf1	UTSW	14	79406850	missense	probably damaging	1.00
R0604:Mtrf1	UTSW	14	79415887	missense	possibly damaging	0.92
R0669:Mtrf1	UTSW	14	79419268	nonsense	probably null
R0981:Mtrf1	UTSW	14	79401590	missense	probably benign	0.04
R1837:Mtrf1	UTSW	14	79401833	missense	possibly damaging	0.89
R1969:Mtrf1	UTSW	14	79401671	missense	probably damaging	1.00
R3883:Mtrf1	UTSW	14	79419267	missense	probably damaging	1.00
R4739:Mtrf1	UTSW	14	79413080	missense	probably damaging	1.00
R4748:Mtrf1	UTSW	14	79411650	missense	probably damaging	1.00
R4780:Mtrf1	UTSW	14	79401688	missense	probably benign	0.02
R4965:Mtrf1	UTSW	14	79406587	missense	probably benign
R5616:Mtrf1	UTSW	14	79401445	missense	possibly damaging	0.68
R6530:Mtrf1	UTSW	14	79402891	missense	possibly damaging	0.89
R6776:Mtrf1	UTSW	14	79413081	missense	probably damaging	1.00
R7095:Mtrf1	UTSW	14	79423491	frame shift	probably null
R7182:Mtrf1	UTSW	14	79423464	missense	possibly damaging	0.60
R7254:Mtrf1	UTSW	14	79423491	frame shift	probably null
R7871:Mtrf1	UTSW	14	79406938	missense	probably benign	0.19
R8249:Mtrf1	UTSW	14	79401479	missense	probably benign	0.23
R9593:Mtrf1	UTSW	14	79419224	missense	probably damaging	0.99

Posted On

2016-08-02