Mutagenetix > Incidental Mutation

Incidental Mutation 'R6345:Mtrf1l'

514111

Institutional Source

Beutler Lab

Gene Symbol

Mtrf1l

Ensembl Gene

ENSMUSG00000019774

Gene Name

mitochondrial translational release factor 1-like

Synonyms

9130004K12Rik

MMRRC Submission

044499-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5761887-5773910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5767468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 216 (I216N)

Ref Sequence

ENSEMBL: ENSMUSP00000019908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019908]

AlphaFold

Q8BJU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019908
AA Change: I216N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019908
Gene: ENSMUSG00000019774
AA Change: I216N

Domain	Start	End	E-Value	Type
PCRF	75	189	2.26e-36	SMART
Pfam:RF-1	221	331	1.5e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145718

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,913 (GRCm39)	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399 (GRCm39)	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,771,354 (GRCm39)	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266 (GRCm39)	R437G	probably damaging	Het
Atp9a	C	T	2: 168,518,093 (GRCm39)	S264N	probably damaging	Het
AY358078	A	C	14: 52,063,749 (GRCm39)	Y465S	probably damaging	Het
Bin3	G	A	14: 70,374,676 (GRCm39)	R235Q	probably benign	Het
Bsn	G	A	9: 107,984,554 (GRCm39)	P3167S	unknown	Het
Camk2g	G	A	14: 20,787,443 (GRCm39)	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,643,914 (GRCm39)		probably null	Het
Ccnjl	A	T	11: 43,476,165 (GRCm39)	T263S	probably benign	Het
Col17a1	G	T	19: 47,641,818 (GRCm39)	P944T	possibly damaging	Het
Cyp2c39	A	T	19: 39,501,615 (GRCm39)		probably null	Het
Cyp2c39	G	T	19: 39,501,616 (GRCm39)		probably null	Het
Cyp4a32	T	C	4: 115,459,560 (GRCm39)	V98A	possibly damaging	Het
Dnah9	A	G	11: 65,928,519 (GRCm39)	V2050A	probably damaging	Het
F5	A	G	1: 164,019,520 (GRCm39)	N665S	probably benign	Het
Fbxl6	A	T	15: 76,420,054 (GRCm39)	C520S	probably damaging	Het
Fscn2	C	A	11: 120,252,853 (GRCm39)	H107N	probably damaging	Het
Gfm2	C	T	13: 97,299,461 (GRCm39)	T367M	probably damaging	Het
Gle1	C	G	2: 29,826,127 (GRCm39)	P69A	probably benign	Het
Gpr156	A	T	16: 37,807,881 (GRCm39)	D176V	probably damaging	Het
Grip2	A	G	6: 91,742,369 (GRCm39)	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,989,504 (GRCm39)	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,571,570 (GRCm39)	R296*	probably null	Het
Ighv1-39	C	T	12: 114,878,479 (GRCm39)	V31M	possibly damaging	Het
Itgav	A	G	2: 83,632,380 (GRCm39)	E956G	probably damaging	Het
Katnip	C	A	7: 125,352,159 (GRCm39)	D26E	probably damaging	Het
Lsm8	A	G	6: 18,853,644 (GRCm39)	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,754,398 (GRCm39)	H390P	possibly damaging	Het
Muc16	G	A	9: 18,566,222 (GRCm39)	T2099I	unknown	Het
Myh7	T	C	14: 55,221,149 (GRCm39)	R925G	probably damaging	Het
Myo1h	T	A	5: 114,489,769 (GRCm39)	I658N	probably damaging	Het
Myo5a	A	T	9: 75,097,195 (GRCm39)	D81V	possibly damaging	Het
Nell1	G	A	7: 49,625,171 (GRCm39)	C12Y	possibly damaging	Het
Obscn	T	C	11: 58,944,522 (GRCm39)	Y4724C	probably damaging	Het
Or8k53	A	G	2: 86,177,892 (GRCm39)	Y73H	probably damaging	Het
Pah	G	A	10: 87,412,049 (GRCm39)	D315N	probably damaging	Het
Per2	A	G	1: 91,376,444 (GRCm39)	V143A	probably damaging	Het
Plcxd1	T	C	5: 110,248,165 (GRCm39)	V38A	probably benign	Het
Pld1	A	G	3: 28,184,896 (GRCm39)		probably benign	Het
Plekhh2	A	G	17: 84,883,215 (GRCm39)	N761S	probably benign	Het
Polh	T	C	17: 46,493,664 (GRCm39)	I318V	probably benign	Het
Prex1	T	C	2: 166,414,880 (GRCm39)	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,333,481 (GRCm39)	S1440T	probably benign	Het
Rbm19	G	T	5: 120,265,105 (GRCm39)	W382L	possibly damaging	Het
Rchy1	T	C	5: 92,105,801 (GRCm39)	D49G	probably benign	Het
Ric1	A	G	19: 29,581,485 (GRCm39)	D1402G	probably benign	Het
S1pr3	G	T	13: 51,573,067 (GRCm39)	A83S	probably damaging	Het
S1pr3	C	A	13: 51,573,068 (GRCm39)	A83D	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,333,978 (GRCm39)	R355G	probably damaging	Het
Slx4	G	C	16: 3,808,714 (GRCm39)	Q409E	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,084,322 (GRCm39)	D682Y	probably damaging	Het
Spen	C	T	4: 141,198,944 (GRCm39)	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,535,516 (GRCm39)	E69G	probably damaging	Het
Tasp1	C	A	2: 139,793,457 (GRCm39)	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,001,042 (GRCm39)	F787L	probably damaging	Het
Vmn1r228	A	G	17: 20,997,144 (GRCm39)	S125P	probably damaging	Het
Wdhd1	A	G	14: 47,489,379 (GRCm39)	M718T	probably damaging	Het

Other mutations in Mtrf1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Mtrf1l	APN	10	5,764,180 (GRCm39)	splice site	probably benign
IGL01292:Mtrf1l	APN	10	5,764,090 (GRCm39)	missense	probably benign	0.00
IGL01844:Mtrf1l	APN	10	5,764,112 (GRCm39)	missense	probably null	0.76
R0050:Mtrf1l	UTSW	10	5,765,553 (GRCm39)	splice site	silent
R0051:Mtrf1l	UTSW	10	5,763,384 (GRCm39)	missense	probably damaging	1.00
R0051:Mtrf1l	UTSW	10	5,763,382 (GRCm39)	missense	probably damaging	1.00
R0866:Mtrf1l	UTSW	10	5,763,376 (GRCm39)	missense	probably damaging	1.00
R1636:Mtrf1l	UTSW	10	5,763,265 (GRCm39)	missense	probably damaging	0.98
R2897:Mtrf1l	UTSW	10	5,767,565 (GRCm39)	missense	probably benign	0.16
R4020:Mtrf1l	UTSW	10	5,767,454 (GRCm39)	missense	probably benign	0.01
R4618:Mtrf1l	UTSW	10	5,767,586 (GRCm39)	missense	probably benign	0.37
R4843:Mtrf1l	UTSW	10	5,773,696 (GRCm39)	missense	possibly damaging	0.56
R6034:Mtrf1l	UTSW	10	5,773,834 (GRCm39)	unclassified	probably benign
R6034:Mtrf1l	UTSW	10	5,773,834 (GRCm39)	unclassified	probably benign
R6261:Mtrf1l	UTSW	10	5,765,550 (GRCm39)	critical splice donor site	probably null
R6991:Mtrf1l	UTSW	10	5,763,384 (GRCm39)	missense	probably damaging	1.00
R7669:Mtrf1l	UTSW	10	5,765,620 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAGACTTACAATGTCCATTTCATG -3'
(R):5'- TGGTCAATTGTTTCTGCACGAC -3'

Sequencing Primer
(F):5'- CCAGTGTATATCTAGACAGTCGAG -3'
(R):5'- TTAGACATGCGTCAGCCA -3'

Posted On

2018-04-27