Mutagenetix > Incidental Mutation

Incidental Mutation 'R0050:Mtrf1l'

15976

Institutional Source

Beutler Lab

Gene Symbol

Mtrf1l

Ensembl Gene

ENSMUSG00000019774

Gene Name

mitochondrial translational release factor 1-like

Synonyms

9130004K12Rik

MMRRC Submission

038344-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0050 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

5761887-5773910 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 5765553 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

silent
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: ENSMUST00000145687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145718

Coding Region Coverage

1x: 88.6%
3x: 85.4%
10x: 76.7%
20x: 62.7%

Validation Efficiency

90% (86/96)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,069,910 (GRCm39)		probably benign	Het
Abca9	C	T	11: 110,036,417 (GRCm39)	C564Y	probably damaging	Het
Abhd14a	A	T	9: 106,318,082 (GRCm39)		probably benign	Het
Acnat2	G	A	4: 49,380,586 (GRCm39)	T264I	probably benign	Het
Adamts2	T	C	11: 50,666,222 (GRCm39)	V406A	probably damaging	Het
Adcy5	A	G	16: 35,124,673 (GRCm39)		probably benign	Het
Akr1c13	T	C	13: 4,244,669 (GRCm39)		probably benign	Het
Ankar	T	A	1: 72,695,323 (GRCm39)	E1093D	probably damaging	Het
Arhgef38	C	A	3: 132,837,957 (GRCm39)	D75Y	probably damaging	Het
Asns	T	C	6: 7,676,019 (GRCm39)	I484V	probably benign	Het
Astn1	T	C	1: 158,407,294 (GRCm39)		probably benign	Het
Atg4b	T	A	1: 93,715,440 (GRCm39)		probably benign	Het
Cadm2	A	G	16: 66,750,154 (GRCm39)		probably benign	Het
Ces2c	T	A	8: 105,574,831 (GRCm39)	M96K	probably benign	Het
Cpd	T	A	11: 76,683,685 (GRCm39)	T1025S	possibly damaging	Het
Daw1	T	C	1: 83,158,086 (GRCm39)	V45A	probably benign	Het
Dmrt3	C	A	19: 25,599,953 (GRCm39)	P266H	probably damaging	Het
Dnah10	A	G	5: 124,907,808 (GRCm39)	T4416A	probably benign	Het
Dock9	A	G	14: 121,844,637 (GRCm39)	V1124A	probably benign	Het
Ermp1	C	A	19: 29,606,184 (GRCm39)	A190S	probably damaging	Het
Gm10267	T	A	18: 44,289,520 (GRCm39)		probably benign	Het
Golga2	T	A	2: 32,182,139 (GRCm39)	V29D	probably damaging	Het
Gprc6a	T	A	10: 51,491,485 (GRCm39)	M755L	probably damaging	Het
H1f8	G	T	6: 115,924,729 (GRCm39)	K78N	probably damaging	Het
Lama1	A	T	17: 68,089,051 (GRCm39)	D1574V	possibly damaging	Het
Lama3	T	A	18: 12,537,160 (GRCm39)	H268Q	probably damaging	Het
Lmntd1	T	C	6: 145,363,202 (GRCm39)	D107G	probably damaging	Het
Lrriq1	A	G	10: 102,904,792 (GRCm39)	V1614A	probably damaging	Het
Mmp12	A	G	9: 7,350,152 (GRCm39)		probably benign	Het
Mre11a	A	G	9: 14,742,269 (GRCm39)		probably benign	Het
Oaz2	A	G	9: 65,595,084 (GRCm39)	E61G	probably damaging	Het
Parp3	A	T	9: 106,348,600 (GRCm39)	D473E	possibly damaging	Het
Pear1	G	T	3: 87,663,294 (GRCm39)	Y441*	probably null	Het
Pkhd1l1	A	T	15: 44,437,203 (GRCm39)	T3493S	possibly damaging	Het
Ppp3cb	A	G	14: 20,581,820 (GRCm39)	V65A	possibly damaging	Het
Rheb	A	T	5: 25,022,832 (GRCm39)		probably benign	Het
Ros1	G	A	10: 51,977,899 (GRCm39)	T1449M	probably damaging	Het
Scn4a	C	G	11: 106,211,682 (GRCm39)	R1445P	probably damaging	Het
Sema3d	T	A	5: 12,634,920 (GRCm39)	M662K	probably benign	Het
Skp2	A	G	15: 9,125,178 (GRCm39)	F134L	probably benign	Het
Slc6a12	T	C	6: 121,337,378 (GRCm39)		probably benign	Het
Slc8a3	T	C	12: 81,362,039 (GRCm39)	Y260C	probably damaging	Het
Spin1	T	A	13: 51,304,454 (GRCm39)		probably benign	Het
Stx2	A	G	5: 129,076,572 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,006,504 (GRCm39)	V863D	probably damaging	Het
Tgfb3	T	A	12: 86,116,658 (GRCm39)	I127F	possibly damaging	Het
Tgif1	T	G	17: 71,157,879 (GRCm39)	K2Q	probably damaging	Het
Trmt2a	A	T	16: 18,068,707 (GRCm39)	E234D	probably damaging	Het
Trps1	A	T	15: 50,628,921 (GRCm39)	S696T	probably benign	Het
Ucp1	A	G	8: 84,020,857 (GRCm39)	E191G	probably damaging	Het
Usp48	C	A	4: 137,341,114 (GRCm39)	D371E	probably damaging	Het
Usp54	A	T	14: 20,623,823 (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
IGL01844:Mtrf1l	APN	10	5,764,112 (GRCm39)	missense	probably null	0.76
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

2013-01-08