Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Mtrf1'

559074

Institutional Source

Beutler Lab

Gene Symbol

Mtrf1

Ensembl Gene

ENSMUSG00000022022

Gene Name

mitochondrial translational release factor 1

Synonyms

MMRRC Submission

045234-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79397772-79423587 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79423464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 432 (E432G)

Ref Sequence

ENSEMBL: ENSMUSP00000022600 (fasta)

Gene Model

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

AlphaFold

Q8K126

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022600
AA Change: E432G

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: E432G

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

Meta Mutation Damage Score

0.5604

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,714 (GRCm38)	V323A	unknown	Het
AC117241.1	A	G	17: 7,352,688 (GRCm38)	V158A	unknown	Het
Acadm	A	G	3: 153,941,881 (GRCm38)		probably null	Het
Adcy10	T	G	1: 165,543,470 (GRCm38)		probably null	Het
Aldh6a1	C	T	12: 84,441,831 (GRCm38)	A94T	probably benign	Het
Ano2	T	A	6: 125,790,293 (GRCm38)	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,377,655 (GRCm38)	R1828H	probably damaging	Het
Ccdc33	A	T	9: 58,034,173 (GRCm38)		probably null	Het
Cep112	A	C	11: 108,682,844 (GRCm38)	D6A	probably benign	Het
Chd9	T	C	8: 91,006,622 (GRCm38)	F1373S	unknown	Het
Cog5	T	C	12: 31,685,708 (GRCm38)	L158P	probably damaging	Het
Col6a3	G	A	1: 90,803,678 (GRCm38)	Q1618*	probably null	Het
Dlg5	A	G	14: 24,244,856 (GRCm38)	V3A		Het
Dnah7a	T	A	1: 53,620,461 (GRCm38)		probably null	Het
Dpp10	A	T	1: 123,341,151 (GRCm38)	H716Q	probably benign	Het
Epor	A	G	9: 21,963,329 (GRCm38)	F35L	probably benign	Het
Ergic1	A	T	17: 26,654,882 (GRCm38)	Y92F		Het
Fam98a	G	A	17: 75,539,018 (GRCm38)	Q273*	probably null	Het
Fhdc1	G	A	3: 84,448,850 (GRCm38)	T429I	probably damaging	Het
Fmnl2	T	A	2: 53,107,441 (GRCm38)	L468Q	unknown	Het
Fmnl3	C	T	15: 99,321,782 (GRCm38)	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,920,506 (GRCm38)	M271V	probably damaging	Het
Garin4	C	T	1: 191,163,351 (GRCm38)	R365H	probably damaging	Het
Gk5	G	T	9: 96,119,526 (GRCm38)	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,315,615 (GRCm38)	N162K	probably benign	Het
Gm3604	T	C	13: 62,371,875 (GRCm38)	D22G	probably damaging	Het
Gm5565	G	T	5: 146,158,055 (GRCm38)	H294N	probably benign	Het
Hsf2	T	A	10: 57,505,176 (GRCm38)	D287E	possibly damaging	Het
Ift70b	A	T	2: 75,937,949 (GRCm38)	Y153*	probably null	Het
Impdh2	G	A	9: 108,563,208 (GRCm38)	R231H	possibly damaging	Het
Irak3	T	C	10: 120,166,511 (GRCm38)	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,741,458 (GRCm38)		probably null	Het
Lrch3	T	A	16: 32,993,779 (GRCm38)	D551E	probably benign	Het
Manba	A	T	3: 135,567,513 (GRCm38)	N736I	probably benign	Het
Map2	A	G	1: 66,412,653 (GRCm38)	D234G	possibly damaging	Het
Mdk	C	A	2: 91,930,852 (GRCm38)	K121N	unknown	Het
Mfn1	T	A	3: 32,564,220 (GRCm38)	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,866,157 (GRCm38)		probably null	Het
Mnat1	G	T	12: 73,230,678 (GRCm38)	E233*	probably null	Het
Mtmr4	T	C	11: 87,604,605 (GRCm38)		probably null	Het
Muc5b	C	T	7: 141,842,645 (GRCm38)	R165C	unknown	Het
Naip6	T	A	13: 100,316,149 (GRCm38)	I135F	probably benign	Het
Nod2	A	G	8: 88,663,832 (GRCm38)	T256A	probably benign	Het
Notch4	T	A	17: 34,583,499 (GRCm38)	V1298E	probably damaging	Het
Nudc	G	T	4: 133,534,465 (GRCm38)	D169E	possibly damaging	Het
Obscn	A	T	11: 59,035,101 (GRCm38)	I5602N	probably damaging	Het
Or5b114-ps1	G	A	19: 13,375,844 (GRCm38)	G294E	unknown	Het
Osbpl10	G	A	9: 115,067,251 (GRCm38)	D18N	probably damaging	Het
Pigk	G	A	3: 152,722,551 (GRCm38)	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,437,170 (GRCm38)	E26K	probably damaging	Het
Prpf8	A	G	11: 75,490,727 (GRCm38)	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,224,763 (GRCm38)	D159G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990 (GRCm38)	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,759,757 (GRCm38)	H1171R	probably benign	Het
Scn4a	T	A	11: 106,330,308 (GRCm38)	I842F	probably benign	Het
Scnm1	A	T	3: 95,133,854 (GRCm38)	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,524,361 (GRCm38)	I137N	probably benign	Het
Slc30a3	A	C	5: 31,089,670 (GRCm38)	M103R	probably damaging	Het
Slc30a3	T	C	5: 31,086,825 (GRCm38)	Q371R	probably benign	Het
Slco1a1	A	T	6: 141,911,839 (GRCm38)	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,656,930 (GRCm38)	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,998,523 (GRCm38)	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991 (GRCm38)	S3552T	probably benign	Het
Tmem62	A	G	2: 121,004,743 (GRCm38)	I516M	probably benign	Het
Trim61	A	T	8: 65,013,614 (GRCm38)	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520 (GRCm38)	T227P	probably benign	Het
Trpc3	T	C	3: 36,655,109 (GRCm38)	Q406R	probably benign	Het
Ush2a	A	T	1: 188,753,543 (GRCm38)	Y2950F	probably benign	Het
Usp32	C	T	11: 85,040,170 (GRCm38)	G478D	probably benign	Het
Wdfy3	A	G	5: 101,943,892 (GRCm38)	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,893,678 (GRCm38)	V163A	possibly damaging	Het

Other mutations in Mtrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Mtrf1	APN	14	79,423,425 (GRCm38)	missense	probably benign	0.10
IGL01478:Mtrf1	APN	14	79,402,920 (GRCm38)	splice site	probably benign
IGL01866:Mtrf1	APN	14	79,401,508 (GRCm38)	missense	probably benign
IGL02290:Mtrf1	APN	14	79,401,811 (GRCm38)	nonsense	probably null
IGL02929:Mtrf1	APN	14	79,402,833 (GRCm38)	missense	probably benign	0.00
IGL03342:Mtrf1	APN	14	79,415,872 (GRCm38)	splice site	probably null
IGL03342:Mtrf1	APN	14	79,415,871 (GRCm38)	splice site	probably benign
IGL03342:Mtrf1	APN	14	79,415,980 (GRCm38)	missense	possibly damaging	0.80
R0212:Mtrf1	UTSW	14	79,419,279 (GRCm38)	missense	probably benign	0.02
R0560:Mtrf1	UTSW	14	79,406,850 (GRCm38)	missense	probably damaging	1.00
R0604:Mtrf1	UTSW	14	79,415,887 (GRCm38)	missense	possibly damaging	0.92
R0669:Mtrf1	UTSW	14	79,419,268 (GRCm38)	nonsense	probably null
R0981:Mtrf1	UTSW	14	79,401,590 (GRCm38)	missense	probably benign	0.04
R1837:Mtrf1	UTSW	14	79,401,833 (GRCm38)	missense	possibly damaging	0.89
R1969:Mtrf1	UTSW	14	79,401,671 (GRCm38)	missense	probably damaging	1.00
R3883:Mtrf1	UTSW	14	79,419,267 (GRCm38)	missense	probably damaging	1.00
R4739:Mtrf1	UTSW	14	79,413,080 (GRCm38)	missense	probably damaging	1.00
R4748:Mtrf1	UTSW	14	79,411,650 (GRCm38)	missense	probably damaging	1.00
R4780:Mtrf1	UTSW	14	79,401,688 (GRCm38)	missense	probably benign	0.02
R4965:Mtrf1	UTSW	14	79,406,587 (GRCm38)	missense	probably benign
R5616:Mtrf1	UTSW	14	79,401,445 (GRCm38)	missense	possibly damaging	0.68
R6530:Mtrf1	UTSW	14	79,402,891 (GRCm38)	missense	possibly damaging	0.89
R6776:Mtrf1	UTSW	14	79,413,081 (GRCm38)	missense	probably damaging	1.00
R7095:Mtrf1	UTSW	14	79,423,491 (GRCm38)	frame shift	probably null
R7254:Mtrf1	UTSW	14	79,423,491 (GRCm38)	frame shift	probably null
R7871:Mtrf1	UTSW	14	79,406,938 (GRCm38)	missense	probably benign	0.19
R8249:Mtrf1	UTSW	14	79,401,479 (GRCm38)	missense	probably benign	0.23
R9593:Mtrf1	UTSW	14	79,419,224 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTCAGTTCCATTGGGAGACAC -3'
(R):5'- GGAGAGCTGGATTATTTACTGAAACC -3'

Sequencing Primer
(F):5'- AGTTCCATTGGGAGACACACCTTC -3'
(R):5'- ACTCTATGCAAGAAATGTGAGTTTC -3'

Posted On

2019-06-26