Mutagenetix > Incidental Mutation

Incidental Mutation 'R6991:Mtrf1l'

543854

Institutional Source

Beutler Lab

Gene Symbol

Mtrf1l

Ensembl Gene

ENSMUSG00000019774

Gene Name

mitochondrial translational release factor 1-like

Synonyms

9130004K12Rik

MMRRC Submission

045097-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5761887-5773910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5763384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 315 (E315G)

Ref Sequence

ENSEMBL: ENSMUSP00000019908 (fasta)

Gene Model

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

AlphaFold

Q8BJU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000019908
AA Change: E315G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019908
Gene: ENSMUSG00000019774
AA Change: E315G

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

Meta Mutation Damage Score

0.6454

Coding Region Coverage

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

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,279,871 (GRCm39)	V278D	probably damaging	Het
Akap12	G	T	10: 4,307,122 (GRCm39)	E1311*	probably null	Het
Ankdd1a	T	A	9: 65,415,957 (GRCm39)	D186V	probably benign	Het
Birc6	A	G	17: 74,869,090 (GRCm39)	E346G	probably damaging	Het
Brd10	A	G	19: 29,696,508 (GRCm39)	L995S	possibly damaging	Het
Ccr7	A	C	11: 99,036,130 (GRCm39)	V264G	probably damaging	Het
Col7a1	T	C	9: 108,812,987 (GRCm39)		probably null	Het
Coq8a	T	C	1: 180,006,633 (GRCm39)	T132A	probably benign	Het
Cplane1	A	G	15: 8,281,690 (GRCm39)	E2843G	unknown	Het
Cyp2b10	G	A	7: 25,616,780 (GRCm39)	S407N	probably benign	Het
Ddi2	A	G	4: 141,412,561 (GRCm39)	V117A	probably benign	Het
Ddx42	G	A	11: 106,129,970 (GRCm39)	V421I	probably damaging	Het
Dip2c	T	A	13: 9,601,896 (GRCm39)	L285*	probably null	Het
Dip2c	C	T	13: 9,684,868 (GRCm39)	S1232F	probably damaging	Het
Dner	T	A	1: 84,454,123 (GRCm39)	R402*	probably null	Het
Dpysl3	A	T	18: 43,486,956 (GRCm39)	I317N	probably damaging	Het
Dusp23	T	A	1: 172,459,224 (GRCm39)	Y146F	probably benign	Het
Eef1a2	C	A	2: 180,790,421 (GRCm39)	V412L	possibly damaging	Het
Epha7	C	T	4: 28,821,489 (GRCm39)	T218I	probably damaging	Het
Gigyf2	T	A	1: 87,334,858 (GRCm39)	C284S	probably damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hao2	T	A	3: 98,784,068 (GRCm39)	E327V	probably damaging	Het
Hdhd5	A	G	6: 120,487,130 (GRCm39)	V409A	probably damaging	Het
Kif9	T	C	9: 110,323,690 (GRCm39)	Y236H	probably damaging	Het
Kri1	T	C	9: 21,199,050 (GRCm39)		probably benign	Het
Lig4	A	T	8: 10,021,098 (GRCm39)	V894E	probably damaging	Het
Lrriq1	T	C	10: 103,023,319 (GRCm39)	N982S	probably damaging	Het
Mapk8	T	C	14: 33,132,841 (GRCm39)	I32V	possibly damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mstn	T	C	1: 53,101,100 (GRCm39)	I59T	probably benign	Het
Notch4	G	T	17: 34,803,774 (GRCm39)	E1515*	probably null	Het
Npw	A	C	17: 24,877,029 (GRCm39)	V124G	probably benign	Het
Nxph3	A	G	11: 95,402,244 (GRCm39)	S57P	probably damaging	Het
Opn4	A	T	14: 34,315,864 (GRCm39)	L390M	probably benign	Het
Or12e10	G	A	2: 87,640,787 (GRCm39)	D208N	possibly damaging	Het
Or52e4	T	C	7: 104,705,771 (GRCm39)	I106T	probably damaging	Het
Or5b95	G	T	19: 12,658,112 (GRCm39)	L213F	probably benign	Het
Or5g23	T	C	2: 85,438,592 (GRCm39)	I221V	possibly damaging	Het
Or5p68	T	A	7: 107,945,295 (GRCm39)	N298Y	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2g2e	G	A	4: 138,607,986 (GRCm39)	C62Y	probably damaging	Het
Plcb4	G	A	2: 135,752,114 (GRCm39)	V107M	probably damaging	Het
Pramel33	T	A	5: 93,632,233 (GRCm39)	N107I	probably damaging	Het
Prorsd1	A	C	11: 29,464,486 (GRCm39)		probably benign	Het
Prox2	A	G	12: 85,134,165 (GRCm39)	L587P	probably benign	Het
Prr22	A	G	17: 57,078,345 (GRCm39)	D166G	possibly damaging	Het
Ptprz1	G	A	6: 23,002,686 (GRCm39)	R1592Q	probably benign	Het
Rarg	C	G	15: 102,150,350 (GRCm39)	R74P	probably damaging	Het
Rcan1	A	G	16: 92,194,251 (GRCm39)	V54A	probably benign	Het
Rmdn2	A	G	17: 79,928,739 (GRCm39)		probably benign	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Serpina1a	T	C	12: 103,820,092 (GRCm39)	T385A	probably benign	Het
Slc44a3	T	C	3: 121,325,814 (GRCm39)	Y12C	probably benign	Het
Smg1	C	A	7: 117,767,091 (GRCm39)		probably benign	Het
Spock3	A	G	8: 63,808,415 (GRCm39)	*437W	probably null	Het
Sugct	T	A	13: 17,728,965 (GRCm39)	Q220H	probably benign	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Tnks	C	A	8: 35,301,647 (GRCm39)	R1274I	probably damaging	Het
Trp53bp1	C	T	2: 121,038,521 (GRCm39)	R1439H	probably damaging	Het
Vmn1r16	G	T	6: 57,299,869 (GRCm39)	S251*	probably null	Het
Vmn2r15	T	A	5: 109,441,180 (GRCm39)	Q226L	probably damaging	Het
Vmn2r67	T	G	7: 84,804,953 (GRCm39)	Y53S	possibly damaging	Het
Vmn2r99	A	G	17: 19,598,372 (GRCm39)	N132S	probably benign	Het
Wdr73	T	G	7: 80,541,604 (GRCm39)	T313P	probably benign	Het
Zfp65	C	T	13: 67,856,640 (GRCm39)	R213Q	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
R6345:Mtrf1l	UTSW	10	5,767,468 (GRCm39)	missense	possibly damaging	0.96
R7669:Mtrf1l	UTSW	10	5,765,620 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCACTAGAACGTTCCTAGCC -3'
(R):5'- AGAGGCAGGACTCAGATACTTTTATC -3'

Sequencing Primer
(F):5'- GAAGCTTAGTCTCTTCTGGAAATC -3'
(R):5'- CAGGACTCAGATACTTTTATCTTGAC -3'

Posted On

2019-05-13