Incidental Mutation 'R8249:Mtrf1'
ID 640342
Institutional Source Beutler Lab
Gene Symbol Mtrf1
Ensembl Gene ENSMUSG00000022022
Gene Name mitochondrial translational release factor 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8249 (G1)
Quality Score 155.008
Status Not validated
Chromosome 14
Chromosomal Location 79397772-79423587 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 79401479 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 17 (A17E)
Ref Sequence ENSEMBL: ENSMUSP00000022600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022600]
AlphaFold Q8K126
Predicted Effect probably benign
Transcript: ENSMUST00000022600
AA Change: A17E

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: A17E

DomainStartEndE-ValueType
low complexity region 104 119 N/A INTRINSIC
low complexity region 122 133 N/A INTRINSIC
PCRF 139 255 5.96e-27 SMART
Pfam:RF-1 290 400 2.6e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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 was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,321,812 S441P probably benign Het
Adck2 C T 6: 39,585,733 R513* probably null Het
Agbl2 G A 2: 90,797,564 G238R probably damaging Het
Arhgap12 A T 18: 6,027,635 I736N probably damaging Het
AW554918 C T 18: 25,339,718 T193I probably benign Het
Bscl2 T C 19: 8,846,520 Y270H probably damaging Het
Btd T C 14: 31,665,948 Y112H probably damaging Het
Camk2d C T 3: 126,797,729 H283Y probably damaging Het
Cnga1 T C 5: 72,605,394 Y259C probably benign Het
Dnm3 A T 1: 162,477,743 C27* probably null Het
Fam126b G A 1: 58,534,637 S336L probably benign Het
Fbxo48 T A 11: 16,953,433 S20T possibly damaging Het
Fkbp6 A G 5: 135,349,952 S14P possibly damaging Het
Gcfc2 T C 6: 81,956,951 F730L probably benign Het
Gm136 C A 4: 34,750,955 R106L probably benign Het
Gpr165 C A X: 96,714,017 D7E probably benign Het
Grin2c C T 11: 115,253,837 R621Q probably damaging Het
H2-M11 T A 17: 36,549,008 W298R probably damaging Het
Hars2 A T 18: 36,788,001 I209F probably damaging Het
Hmcn1 A T 1: 150,819,366 N262K probably benign Het
Ifit1 T A 19: 34,640,989 probably null Het
Ighv1-85 T C 12: 116,000,224 D52G probably benign Het
Kit T C 5: 75,641,408 V657A probably damaging Het
Krt32 T C 11: 100,086,722 I173V probably benign Het
Lrfn3 GC GCCAGGGGAGGTGAGCGGTGGGTCACCTCCC 7: 30,359,873 probably null Het
Lrp1 C A 10: 127,605,543 S237I probably benign Het
Map3k9 T C 12: 81,780,777 D33G unknown Het
Mroh7 T C 4: 106,721,212 T90A probably benign Het
Mterf1a A C 5: 3,891,550 I106S probably damaging Het
Musk T G 4: 58,368,926 L635R probably damaging Het
Naxe A T 3: 88,058,388 W35R possibly damaging Het
Nlrp9c T A 7: 26,375,353 K806* probably null Het
Pi4k2a A G 19: 42,115,062 E337G probably benign Het
Pwwp2b G T 7: 139,254,843 G67C probably damaging Het
Rftn1 G T 17: 50,047,380 A318D probably damaging Het
Scn10a T A 9: 119,617,774 Y1396F probably damaging Het
Sdk1 A T 5: 142,188,015 probably null Het
Serpina1f C T 12: 103,693,768 G85E probably damaging Het
Tceanc2 G A 4: 107,178,993 probably benign Het
Tmem156 T A 5: 65,075,626 R186* probably null Het
Trbv16 A G 6: 41,151,998 T39A possibly damaging Het
Tti1 C G 2: 158,000,715 S798T probably benign Het
Unc80 A T 1: 66,619,491 M1656L probably benign Het
Wnt2 C A 6: 18,030,285 M1I probably null Het
Other mutations in Mtrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Mtrf1 APN 14 79423425 missense probably benign 0.10
IGL01478:Mtrf1 APN 14 79402920 splice site probably benign
IGL01866:Mtrf1 APN 14 79401508 missense probably benign
IGL02290:Mtrf1 APN 14 79401811 nonsense probably null
IGL02929:Mtrf1 APN 14 79402833 missense probably benign 0.00
IGL03342:Mtrf1 APN 14 79415980 missense possibly damaging 0.80
IGL03342:Mtrf1 APN 14 79415871 splice site probably benign
IGL03342:Mtrf1 APN 14 79415872 splice site probably null
R0212:Mtrf1 UTSW 14 79419279 missense probably benign 0.02
R0560:Mtrf1 UTSW 14 79406850 missense probably damaging 1.00
R0604:Mtrf1 UTSW 14 79415887 missense possibly damaging 0.92
R0669:Mtrf1 UTSW 14 79419268 nonsense probably null
R0981:Mtrf1 UTSW 14 79401590 missense probably benign 0.04
R1837:Mtrf1 UTSW 14 79401833 missense possibly damaging 0.89
R1969:Mtrf1 UTSW 14 79401671 missense probably damaging 1.00
R3883:Mtrf1 UTSW 14 79419267 missense probably damaging 1.00
R4739:Mtrf1 UTSW 14 79413080 missense probably damaging 1.00
R4748:Mtrf1 UTSW 14 79411650 missense probably damaging 1.00
R4780:Mtrf1 UTSW 14 79401688 missense probably benign 0.02
R4965:Mtrf1 UTSW 14 79406587 missense probably benign
R5616:Mtrf1 UTSW 14 79401445 missense possibly damaging 0.68
R6530:Mtrf1 UTSW 14 79402891 missense possibly damaging 0.89
R6776:Mtrf1 UTSW 14 79413081 missense probably damaging 1.00
R7095:Mtrf1 UTSW 14 79423491 frame shift probably null
R7182:Mtrf1 UTSW 14 79423464 missense possibly damaging 0.60
R7254:Mtrf1 UTSW 14 79423491 frame shift probably null
R7871:Mtrf1 UTSW 14 79406938 missense probably benign 0.19
R9593:Mtrf1 UTSW 14 79419224 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGGGATTGAGCTTCATGATGTC -3'
(R):5'- GTGTTTCCAAAGCTTCCTTGTG -3'

Sequencing Primer
(F):5'- TTCCACCATTTGGGAAGCAG -3'
(R):5'- CCTTGTGCCTTGATGACAGCAG -3'
Posted On 2020-07-28