Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01844:Mtrf1l'

178154

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 #

IGL01844

Quality Score

Status

Chromosome

Chromosomal Location

5761887-5773910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 5764112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 284 (L284V)

Ref Sequence

ENSEMBL: ENSMUSP00000019908 (fasta)

Gene Model

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

AlphaFold

Q8BJU9

Predicted Effect

probably null
Transcript: ENSMUST00000019908
AA Change: L284V

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000019908
Gene: ENSMUSG00000019774
AA Change: L284V

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	G	17: 84,989,453 (GRCm39)	I85T	probably damaging	Het
Amer2	A	G	14: 60,617,356 (GRCm39)	D391G	possibly damaging	Het
Atp13a3	A	T	16: 30,180,781 (GRCm39)	C83S	probably benign	Het
Bdh2	A	T	3: 134,994,080 (GRCm39)	Q54L	probably benign	Het
Cep128	A	G	12: 90,975,628 (GRCm39)	S1051P	probably benign	Het
Dop1a	A	G	9: 86,396,138 (GRCm39)	T865A	probably damaging	Het
Epha8	C	A	4: 136,658,360 (GRCm39)	*1005L	probably null	Het
Etl4	T	C	2: 20,811,493 (GRCm39)	V1509A	probably benign	Het
Gucy1b1	T	C	3: 81,953,833 (GRCm39)	E161G	possibly damaging	Het
Hepacam	T	A	9: 37,291,912 (GRCm39)	V80E	probably damaging	Het
Ireb2	A	G	9: 54,772,641 (GRCm39)	K24E	probably benign	Het
Itch	T	A	2: 155,014,467 (GRCm39)	D101E	possibly damaging	Het
Itch	T	A	2: 155,014,406 (GRCm39)	F81Y	possibly damaging	Het
Kctd16	A	G	18: 40,390,373 (GRCm39)	I115M	probably damaging	Het
Klf7	C	A	1: 64,117,933 (GRCm39)	Q221H	probably benign	Het
Kptn	A	G	7: 15,857,897 (GRCm39)	T242A	probably benign	Het
Macf1	A	G	4: 123,334,485 (GRCm39)	F4420S	probably benign	Het
Mthfd2	A	G	6: 83,288,792 (GRCm39)		probably null	Het
Neb	C	T	2: 52,060,561 (GRCm39)	V2259I	probably benign	Het
Or4c111	A	T	2: 88,843,814 (GRCm39)	V198E	possibly damaging	Het
Or9i14	A	T	19: 13,792,180 (GRCm39)	M258K	possibly damaging	Het
Padi1	A	T	4: 140,556,746 (GRCm39)	C154S	probably damaging	Het
Paxip1	T	C	5: 27,956,036 (GRCm39)	T903A	probably benign	Het
Phactr2	T	A	10: 13,129,181 (GRCm39)	L292F	probably benign	Het
Pkhd1l1	G	A	15: 44,362,796 (GRCm39)		probably benign	Het
Pnpla7	T	C	2: 24,940,985 (GRCm39)		probably null	Het
Rif1	T	A	2: 52,002,555 (GRCm39)	I2003K	probably benign	Het
Rxfp3	A	T	15: 11,037,132 (GRCm39)	V80E	probably damaging	Het
Sart3	T	A	5: 113,883,709 (GRCm39)	K768*	probably null	Het
Slc35f5	C	T	1: 125,517,612 (GRCm39)	T470I	probably damaging	Het
Smg8	A	T	11: 86,971,102 (GRCm39)	Y890N	probably damaging	Het
Spata31	T	C	13: 65,068,968 (GRCm39)	V372A	possibly damaging	Het
Tbc1d30	A	T	10: 121,103,084 (GRCm39)	D649E	probably benign	Het
Tctn3	G	A	19: 40,600,581 (GRCm39)	T3I	probably damaging	Het
Tns3	G	A	11: 8,387,177 (GRCm39)	P1337S	possibly damaging	Het
Vmn2r15	T	A	5: 109,434,135 (GRCm39)	*856C	probably null	Het
Vmn2r61	A	T	7: 41,909,639 (GRCm39)	I55F	probably benign	Het
Zbtb41	C	T	1: 139,375,065 (GRCm39)	P842S	probably benign	Het
Zc3h13	A	G	14: 75,581,209 (GRCm39)		probably benign	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
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

2014-05-07