Mutagenetix > Incidental Mutation

Incidental Mutation 'R2897:Mtrf1l'

260855

Institutional Source

Beutler Lab

Gene Symbol

Mtrf1l

Ensembl Gene

ENSMUSG00000019774

Gene Name

mitochondrial translational release factor 1-like

Synonyms

9130004K12Rik

MMRRC Submission

040485-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5761887-5773910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5767565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 184 (R184G)

Ref Sequence

ENSEMBL: ENSMUSP00000019908 (fasta)

Gene Model

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

AlphaFold

Q8BJU9

Predicted Effect

probably benign
Transcript: ENSMUST00000019908
AA Change: R184G

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000019908
Gene: ENSMUSG00000019774
AA Change: R184G

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

0.1147

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,640 (GRCm39)	V1015A	probably benign	Het
4930480E11Rik	C	T	X: 77,413,868 (GRCm39)	Q198*	probably null	Het
Acap3	G	C	4: 155,989,388 (GRCm39)		probably null	Het
Adamts14	T	C	10: 61,040,689 (GRCm39)	D879G	probably damaging	Het
Akap1	A	T	11: 88,735,605 (GRCm39)	C352*	probably null	Het
Ankk1	T	A	9: 49,333,122 (GRCm39)	T121S	probably benign	Het
Ankrd6	T	C	4: 32,860,438 (GRCm39)	S2G	probably damaging	Het
Anks1	G	T	17: 28,204,337 (GRCm39)		probably null	Het
Apob	G	A	12: 8,060,356 (GRCm39)	G2946D	probably damaging	Het
Atm	A	C	9: 53,419,105 (GRCm39)	C782W	probably damaging	Het
Atp1a4	A	T	1: 172,074,257 (GRCm39)	I332N	probably damaging	Het
Bnc2	T	C	4: 84,211,152 (GRCm39)	I406V	probably damaging	Het
Cdh20	A	T	1: 104,875,199 (GRCm39)	D327V	probably damaging	Het
Cep192	T	A	18: 67,988,341 (GRCm39)		probably null	Het
Chd5	T	C	4: 152,456,572 (GRCm39)	F970L	probably damaging	Het
Coq9	T	C	8: 95,579,752 (GRCm39)	Y236H	probably damaging	Het
Csn1s2a	A	G	5: 87,929,680 (GRCm39)	H93R	unknown	Het
Cxcr2	T	C	1: 74,198,130 (GRCm39)	V208A	probably benign	Het
Cyp1b1	G	A	17: 80,021,160 (GRCm39)	T194M	probably benign	Het
Dbt	T	A	3: 116,317,061 (GRCm39)	V79E	probably damaging	Het
Dcx	A	G	X: 142,706,428 (GRCm39)		probably benign	Het
Dnm3	G	A	1: 162,113,643 (GRCm39)		probably benign	Het
Erbin	C	T	13: 104,022,705 (GRCm39)	E45K	probably damaging	Het
Fastkd1	A	G	2: 69,532,960 (GRCm39)	L469P	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10271	A	G	10: 116,808,495 (GRCm39)	L7S	probably damaging	Het
Gm5087	T	C	14: 13,158,805 (GRCm38)		noncoding transcript	Het
Hid1	A	G	11: 115,241,356 (GRCm39)	S645P	probably benign	Het
Hmcn1	C	T	1: 150,678,624 (GRCm39)	C499Y	probably damaging	Het
Ifna1	C	A	4: 88,768,450 (GRCm39)	Q43K	probably benign	Het
Ikbkb	G	T	8: 23,159,693 (GRCm39)	Q432K	possibly damaging	Het
Inpp4a	A	T	1: 37,405,675 (GRCm39)	H148L	probably benign	Het
Itpr2	C	T	6: 146,074,839 (GRCm39)	R2338Q	probably benign	Het
Itpr2	A	T	6: 146,224,667 (GRCm39)	I1441N	probably damaging	Het
Krt78	T	C	15: 101,855,541 (GRCm39)	R757G	probably benign	Het
Lmx1a	T	A	1: 167,658,109 (GRCm39)		probably benign	Het
Lpxn	T	A	19: 12,796,722 (GRCm39)	S81T	probably benign	Het
Lrriq1	T	C	10: 103,063,111 (GRCm39)	N65S	probably damaging	Het
Mis18bp1	T	C	12: 65,180,360 (GRCm39)	D981G	probably benign	Het
Mpp4	T	C	1: 59,183,853 (GRCm39)	I296V	probably benign	Het
Muc19	T	C	15: 91,822,550 (GRCm39)		noncoding transcript	Het
Myo6	T	A	9: 80,176,893 (GRCm39)		probably null	Het
Myom1	A	G	17: 71,408,215 (GRCm39)		probably benign	Het
Ndrg4	A	G	8: 96,405,014 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,522,782 (GRCm39)	S72G	probably benign	Het
Nlrc4	T	A	17: 74,755,040 (GRCm39)	M59L	probably benign	Het
Nuak2	A	T	1: 132,252,791 (GRCm39)	H115L	probably damaging	Het
Oog1	T	A	12: 87,655,178 (GRCm39)	I272K	probably damaging	Het
Or10aa1	T	C	1: 173,869,699 (GRCm39)	F61S	probably damaging	Het
Or52a20	A	T	7: 103,366,749 (GRCm39)	Y316F	probably benign	Het
Pcdhb1	A	G	18: 37,399,516 (GRCm39)	Y489C	probably damaging	Het
Pde5a	T	C	3: 122,572,651 (GRCm39)	I344T	probably benign	Het
Pip5kl1	C	A	2: 32,473,359 (GRCm39)	A332D	probably benign	Het
Pja1	T	C	X: 98,510,754 (GRCm39)	E385G	probably benign	Het
Psma6	A	T	12: 55,454,829 (GRCm39)	I53L	probably benign	Het
Ric8b	T	G	10: 84,783,761 (GRCm39)	D206E	probably benign	Het
Sardh	T	C	2: 27,079,559 (GRCm39)	D911G	probably benign	Het
Serpinb8	A	G	1: 107,534,776 (GRCm39)	T32A	unknown	Het
Shroom2	G	T	X: 151,443,035 (GRCm39)	T710K	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a7	A	G	8: 96,572,424 (GRCm39)		probably benign	Het
Stk36	T	A	1: 74,671,984 (GRCm39)	S895T	probably null	Het
Sycp3	G	A	10: 88,308,544 (GRCm39)	E205K	possibly damaging	Het
Tbc1d16	A	T	11: 119,048,654 (GRCm39)	I333N	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmeff1	T	A	4: 48,658,831 (GRCm39)	Y101*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttn	T	A	2: 76,549,500 (GRCm39)	T23399S	probably damaging	Het
Vipas39	A	G	12: 87,289,297 (GRCm39)	V389A	possibly damaging	Het
Vps41	T	C	13: 18,994,598 (GRCm39)		probably benign	Het
Zfp329	A	T	7: 12,544,413 (GRCm39)	H370Q	probably damaging	Het
Zfp37	C	T	4: 62,110,014 (GRCm39)	G350D	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
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

Predicted Primers

PCR Primer
(F):5'- GTCGAGAAACATTTTCATTCCTACC -3'
(R):5'- CTTGCACTAACAGTTACATTGTAGC -3'

Sequencing Primer
(F):5'- CCAAATGATAAGGTTACATAGGCGC -3'
(R):5'- GGTCAATTGTTTCTGCACG -3'

Posted On

2015-01-23