Mutagenetix > Incidental Mutation

Incidental Mutation 'R0669:Mtrf1'

62159

Institutional Source

Beutler Lab

Gene Symbol

Mtrf1

Ensembl Gene

ENSMUSG00000022022

Gene Name

mitochondrial translational release factor 1

Synonyms

A830062K05Rik

MMRRC Submission

038854-MU

Accession Numbers

Essential gene?

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

Stock #

R0669 (G1)

Quality Score

110

Status

Validated

Chromosome

Chromosomal Location

79635212-79661027 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 79656708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 403 (Y403*)

Ref Sequence

ENSEMBL: ENSMUSP00000022600 (fasta)

Gene Model

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

AlphaFold

Q8K126

Predicted Effect

probably null
Transcript: ENSMUST00000022600
AA Change: Y403*

SMART Domains

Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: Y403*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

99% (80/81)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,089,671 (GRCm39)	H71L	possibly damaging	Het
Abcb11	C	A	2: 69,159,662 (GRCm39)	V10L	probably benign	Het
Abcb9	T	C	5: 124,200,950 (GRCm39)	T689A	probably damaging	Het
Adam22	A	G	5: 8,193,036 (GRCm39)		probably benign	Het
Adamts5	A	G	16: 85,696,614 (GRCm39)	I181T	probably benign	Het
Adamts9	A	T	6: 92,857,938 (GRCm39)	V231D	probably damaging	Het
Angptl6	C	T	9: 20,787,823 (GRCm39)	V197M	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,772 (GRCm39)	V99A	probably benign	Het
Cacna2d3	A	G	14: 29,189,906 (GRCm39)	V110A	probably benign	Het
Ccdc32	A	G	2: 118,849,648 (GRCm39)		probably benign	Het
Cela3b	T	C	4: 137,155,841 (GRCm39)	H22R	probably benign	Het
Cep44	T	C	8: 56,994,008 (GRCm39)	T190A	possibly damaging	Het
Chsy1	T	C	7: 65,821,435 (GRCm39)	C557R	probably damaging	Het
Cntd1	A	G	11: 101,178,324 (GRCm39)	T308A	probably damaging	Het
Cutal	T	C	2: 34,775,878 (GRCm39)		probably benign	Het
Dipk1b	A	G	2: 26,524,878 (GRCm39)	T93A	probably benign	Het
Dna2	A	G	10: 62,792,768 (GRCm39)	D261G	probably damaging	Het
Dnhd1	T	A	7: 105,342,911 (GRCm39)	S1418R	probably benign	Het
Dnpep	A	G	1: 75,288,422 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,875,716 (GRCm39)	Y1075N	probably benign	Het
Eif2s1	C	T	12: 78,928,012 (GRCm39)		probably benign	Het
Ess2	T	C	16: 17,725,419 (GRCm39)	Y221C	probably damaging	Het
Fer1l6	T	C	15: 58,425,573 (GRCm39)		probably null	Het
Gm5592	T	C	7: 40,805,254 (GRCm39)		probably benign	Het
Ipp	A	G	4: 116,395,073 (GRCm39)	Y536C	probably damaging	Het
Krt72	T	C	15: 101,686,740 (GRCm39)	E402G	probably damaging	Het
Lamb3	T	C	1: 193,014,638 (GRCm39)	L599P	probably damaging	Het
Lingo2	T	A	4: 35,709,120 (GRCm39)	T287S	probably benign	Het
Lipo3	T	A	19: 33,537,025 (GRCm39)	T232S	probably benign	Het
Lrrc63	G	A	14: 75,363,550 (GRCm39)	H194Y	probably benign	Het
Map3k13	A	G	16: 21,725,274 (GRCm39)	T416A	probably benign	Het
Mcm3	A	T	1: 20,875,153 (GRCm39)		probably null	Het
Mms22l	T	C	4: 24,517,223 (GRCm39)	V258A	probably benign	Het
Mrpl46	A	T	7: 78,432,631 (GRCm39)	L49*	probably null	Het
Mrs2	T	C	13: 25,177,742 (GRCm39)	T369A	possibly damaging	Het
Muc20	G	A	16: 32,614,850 (GRCm39)	P176S	unknown	Het
Mup21	C	T	4: 62,068,964 (GRCm39)	C9Y	unknown	Het
Mup-ps21	A	T	4: 61,949,007 (GRCm39)		noncoding transcript	Het
Mybph	T	G	1: 134,125,081 (GRCm39)		probably null	Het
Mypn	A	G	10: 62,970,702 (GRCm39)		probably benign	Het
Nav2	T	C	7: 49,058,431 (GRCm39)	S124P	probably damaging	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Numa1	A	C	7: 101,648,884 (GRCm39)	I872L	probably benign	Het
Or14c40	A	G	7: 86,313,544 (GRCm39)	I225V	possibly damaging	Het
Or2a7	C	T	6: 43,150,938 (GRCm39)	T6I	probably benign	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4c11	A	T	2: 88,695,272 (GRCm39)	M108L	probably benign	Het
Or5p52	T	A	7: 107,502,446 (GRCm39)	I174K	probably damaging	Het
Pcdhb9	A	T	18: 37,535,308 (GRCm39)	N434I	probably damaging	Het
Pigq	A	T	17: 26,155,736 (GRCm39)		probably null	Het
Plxna2	T	G	1: 194,471,145 (GRCm39)	V972G	probably damaging	Het
Psma3	G	A	12: 71,035,269 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,703,975 (GRCm39)	T1336A	probably benign	Het
Rdh7	T	C	10: 127,720,598 (GRCm39)	D258G	probably benign	Het
Serpinb6c	A	G	13: 34,083,252 (GRCm39)	I54T	probably damaging	Het
Sh2d7	A	T	9: 54,448,633 (GRCm39)	Y218F	probably benign	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Slc12a8	A	T	16: 33,371,274 (GRCm39)	I137F	possibly damaging	Het
Smarca2	T	C	19: 26,683,600 (GRCm39)	V1153A	possibly damaging	Het
Smc6	A	T	12: 11,339,165 (GRCm39)	I334L	probably benign	Het
Sorcs1	A	G	19: 50,230,380 (GRCm39)		probably benign	Het
Taar8c	A	G	10: 23,977,401 (GRCm39)	L137P	probably damaging	Het
Tcam1	A	T	11: 106,176,252 (GRCm39)	D326V	possibly damaging	Het
Telo2	A	T	17: 25,324,797 (GRCm39)	V461D	probably benign	Het
Tmprss7	A	T	16: 45,498,325 (GRCm39)	C351*	probably null	Het
Trim66	T	A	7: 109,054,199 (GRCm39)		probably benign	Het
Ube2d1	G	T	10: 71,097,940 (GRCm39)	H32N	probably benign	Het
Ubp1	T	C	9: 113,793,736 (GRCm39)		probably benign	Het
Vma21	C	T	X: 70,863,763 (GRCm39)	T81M	probably damaging	Het
Vmn1r113	T	C	7: 20,521,345 (GRCm39)	S46P	probably benign	Het
Wars1	T	C	12: 108,831,944 (GRCm39)	S374G	probably benign	Het
Wbp1	T	C	6: 83,096,326 (GRCm39)	D277G	possibly damaging	Het
Zfp939	C	A	7: 39,123,209 (GRCm39)		noncoding transcript	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCACAGATCTACTCTCAAGGGGTGTT -3'
(R):5'- GGCTAAGAGCAGCTTCTACCTGACT -3'

Sequencing Primer
(F):5'- AGATATTTAATCCCCTCAAGCAGG -3'
(R):5'- gtcttgtgtgtgtgtgtgtc -3'

Posted On

2013-07-30