Mutagenetix > Incidental Mutation

Incidental Mutation 'R7254:Mtrf1'

564160

Institutional Source

Beutler Lab

Gene Symbol

Mtrf1

Ensembl Gene

ENSMUSG00000022022

Gene Name

mitochondrial translational release factor 1

Synonyms

A830062K05Rik

MMRRC Submission

045315-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R7254 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

79635212-79661027 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GCCTTC to GC at 79660931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022600] [ENSMUST00000061222]

AlphaFold

Q8K126

Predicted Effect

probably null
Transcript: ENSMUST00000022600

SMART Domains

Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022

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

probably benign
Transcript: ENSMUST00000061222

SMART Domains

Protein: ENSMUSP00000060768
Gene: ENSMUSG00000043881

Domain	Start	End	E-Value	Type
Blast:BTB	11	44	2e-11	BLAST
BTB	63	168	1.05e-23	SMART
BACK	173	279	1.41e-19	SMART
low complexity region	317	340	N/A	INTRINSIC
Pfam:Kelch_1	434	481	1.7e-9	PFAM
low complexity region	657	676	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	T	7: 43,147,623 (GRCm39)	D249E	probably damaging	Het
Acacb	A	C	5: 114,347,812 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,025,918 (GRCm39)	V459A	probably damaging	Het
Arid3b	T	C	9: 57,704,037 (GRCm39)	K304E	probably damaging	Het
Ash1l	G	T	3: 88,977,816 (GRCm39)	R2713L	probably damaging	Het
Bmpr1a	A	C	14: 34,136,720 (GRCm39)	D490E	probably benign	Het
Cacna1g	A	T	11: 94,323,393 (GRCm39)	C1270*	probably null	Het
Cep295nl	G	T	11: 118,223,866 (GRCm39)	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,383,043 (GRCm39)	I377V	unknown	Het
Creb1	C	T	1: 64,615,436 (GRCm39)	Q223*	probably null	Het
Ctsc	G	A	7: 87,958,767 (GRCm39)	G349D	probably damaging	Het
Ddx41	G	A	13: 55,681,769 (GRCm39)	R311*	probably null	Het
Dpcd	A	G	19: 45,565,473 (GRCm39)	Q149R	probably benign	Het
Dse	T	A	10: 34,060,144 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,226,205 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,488,488 (GRCm39)	H458Y	probably benign	Het
Gipr	A	T	7: 18,897,538 (GRCm39)	V90E	probably damaging	Het
Gm14412	A	T	2: 177,009,189 (GRCm39)	D22E	probably damaging	Het
Gm21886	A	T	18: 80,132,950 (GRCm39)	C69*	probably null	Het
Gm5114	G	A	7: 39,058,390 (GRCm39)	L410F	probably benign	Het
Gmip	T	A	8: 70,269,118 (GRCm39)		probably null	Het
Gtf2f1	T	C	17: 57,314,101 (GRCm39)	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,059,886 (GRCm39)	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,528,718 (GRCm39)	W107R	probably damaging	Het
Iars1	T	C	13: 49,876,554 (GRCm39)		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ifi213	G	T	1: 173,421,529 (GRCm39)	P120Q	probably damaging	Het
Il6	A	T	5: 30,219,906 (GRCm39)	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,226,908 (GRCm39)	S196G	probably benign	Het
Kcnv1	C	T	15: 44,976,604 (GRCm39)	V228I	probably benign	Het
Lars2	A	G	9: 123,284,028 (GRCm39)	T739A	possibly damaging	Het
Med13	T	C	11: 86,210,661 (GRCm39)	S494G	probably benign	Het
Myh9	T	G	15: 77,650,024 (GRCm39)	Q1646P	probably damaging	Het
Nif3l1	T	A	1: 58,489,625 (GRCm39)	S171R	probably benign	Het
Or13n4	A	G	7: 106,422,777 (GRCm39)	*319Q	probably null	Het
Or1e1c	A	G	11: 73,266,201 (GRCm39)	I212V	probably benign	Het
Or1r1	A	G	11: 73,874,603 (GRCm39)	V277A	probably benign	Het
Or51f23	A	G	7: 102,452,765 (GRCm39)	T27A	probably benign	Het
Or5b113	A	T	19: 13,342,475 (GRCm39)	D161V	probably benign	Het
Or6c5b	T	C	10: 129,245,649 (GRCm39)	V138A	probably benign	Het
Or8c8	T	C	9: 38,164,719 (GRCm39)	M2T	probably benign	Het
Pak5	A	T	2: 135,958,684 (GRCm39)	S135T	possibly damaging	Het
Prr29	A	T	11: 106,265,684 (GRCm39)	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,742,502 (GRCm39)	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,741,978 (GRCm39)	H1310L	probably damaging	Het
Raph1	T	C	1: 60,538,767 (GRCm39)	S393G	unknown	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ror2	A	G	13: 53,272,756 (GRCm39)	I303T	possibly damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn10a	C	T	9: 119,447,921 (GRCm39)	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,821,188 (GRCm39)	C91S	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spata31d1e	T	C	13: 59,889,790 (GRCm39)	I677V	probably benign	Het
Tada1	T	A	1: 166,216,217 (GRCm39)	C139*	probably null	Het
Tbr1	T	A	2: 61,636,386 (GRCm39)	V254E	probably damaging	Het
Timd4	A	T	11: 46,734,016 (GRCm39)	I340F	probably benign	Het
Tubb2a	T	C	13: 34,258,515 (GRCm39)	Y425C	probably damaging	Het
Zfp292	A	T	4: 34,819,476 (GRCm39)	M287K	probably 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
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
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
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'- TTCAGTTCCATTGGGAGACAC -3'
(R):5'- GGAGAGCTGGATTATTTACTGAAACC -3'

Sequencing Primer
(F):5'- AGGCCTAATGTTTACCACATGGG -3'
(R):5'- CTCTGTAGGCACATCTATAC -3'

Posted On

2019-06-26