Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01018:Mtrf1l'

53833

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtrf1l

Ensembl Gene

ENSMUSG00000019774

Gene Name

mitochondrial translational release factor 1-like

Synonyms

9130004K12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01018

Quality Score

Status

Chromosome

Chromosomal Location

5761887-5773910 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 5764180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019908 (fasta)

Gene Model

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

AlphaFold

Q8BJU9

Predicted Effect

probably benign
Transcript: ENSMUST00000019908

SMART Domains

Protein: ENSMUSP00000019908
Gene: ENSMUSG00000019774

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: ENSMUST00000145718

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 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	G	T	6: 133,271,460 (GRCm39)	R168I	probably benign	Het
5530400C23Rik	A	T	6: 133,271,461 (GRCm39)	R168S	probably benign	Het
Armt1	T	A	10: 4,400,732 (GRCm39)	S160T	probably benign	Het
Armt1	C	T	10: 4,404,237 (GRCm39)		probably benign	Het
Ccdc170	T	C	10: 4,462,788 (GRCm39)	W35R	probably benign	Het
Ccdc170	T	C	10: 4,464,114 (GRCm39)	V31A	probably benign	Het
Ccdc170	G	T	10: 4,464,155 (GRCm39)	A99S	probably benign	Het
Glp2r	C	A	11: 67,600,470 (GRCm39)	V460F	probably benign	Het
Gm21411	C	T	4: 146,977,067 (GRCm39)	S69N	possibly damaging	Het
Gm21411	T	C	4: 146,977,034 (GRCm39)	Q80R	probably benign	Het
Gm21738	G	A	14: 19,418,856 (GRCm38)	P24L	probably benign	Het
H2-M10.6	C	T	17: 37,123,112 (GRCm39)	A15V	probably benign	Het
H60c	T	C	10: 3,209,766 (GRCm39)	M174V	probably benign	Het
H60c	A	C	10: 3,210,343 (GRCm39)	F69V	probably benign	Het
Ipcef1	G	A	10: 6,840,551 (GRCm39)	A382V	probably benign	Het
Ipcef1	C	T	10: 6,869,968 (GRCm39)	R144Q	probably damaging	Het
Mapk8ip3	T	G	17: 25,118,693 (GRCm39)		probably benign	Het
Mthfd1l	T	C	10: 3,928,708 (GRCm39)	V100A	probably benign	Het
Mthfd1l	T	C	10: 3,957,800 (GRCm39)	V279A	probably benign	Het
Mthfd1l	T	C	10: 3,982,345 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,957,613 (GRCm39)	E1450G	probably damaging	Het
Obscn	C	T	11: 59,018,895 (GRCm39)	V973M	probably damaging	Het
Oprm1	T	C	10: 6,987,170 (GRCm39)		probably benign	Het
Or6p1	G	A	1: 174,258,908 (GRCm39)	V305I	probably benign	Het
Pou5f2	A	G	13: 78,174,057 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,252,113 (GRCm39)	H891Y	probably benign	Het
Ralgapa2	T	G	2: 146,252,112 (GRCm39)	H806P	probably benign	Het
Rmnd1	A	G	10: 4,377,392 (GRCm39)	W96R	probably benign	Het
Rmnd1	A	T	10: 4,377,290 (GRCm39)	S130T	probably benign	Het
Spata31e2	T	C	1: 26,721,991 (GRCm39)	E1063G	probably damaging	Het
Speer4a3	G	T	5: 26,155,721 (GRCm39)	H208N	probably benign	Het
Trappc12	A	C	12: 28,741,853 (GRCm39)		probably benign	Het
Ulbp3	G	A	10: 3,075,031 (GRCm39)		noncoding transcript	Het
Ulbp3	C	T	10: 3,075,193 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,070,231 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,070,209 (GRCm39)		noncoding transcript	Het
Vip	A	G	10: 5,592,480 (GRCm39)	D40G	probably benign	Het
Vmn2r125	T	C	4: 156,702,907 (GRCm39)		probably benign	Het
Vmn2r125	A	G	4: 156,703,140 (GRCm39)	N173D	probably damaging	Het
Vmn2r125	C	A	4: 156,703,194 (GRCm39)	Q191K	probably benign	Het
Vmn2r125	A	C	4: 156,703,195 (GRCm39)	Q191P	probably benign	Het
Vmn2r125	A	T	4: 156,703,332 (GRCm39)	T237S	probably benign	Het
Vmn2r125	T	A	4: 156,703,521 (GRCm39)	L300M	probably benign	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Vmn2r129	C	A	4: 156,690,730 (GRCm39)		noncoding transcript	Het
Vmn2r129	A	T	4: 156,690,441 (GRCm39)		noncoding transcript	Het
Vmn2r129	G	A	4: 156,686,900 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,687,885 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,686,558 (GRCm39)		noncoding transcript	Het
Vmn2r40	G	A	7: 8,911,175 (GRCm39)	S706F	probably damaging	Het
Zfp14	T	A	7: 29,737,526 (GRCm39)	R486S	probably damaging	Het

Other mutations in Mtrf1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6345:Mtrf1l	UTSW	10	5,767,468 (GRCm39)	missense	possibly damaging	0.96
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

Posted On

2013-06-28