Incidental Mutation 'IGL02290:Mtrf1'
ID290057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtrf1
Ensembl Gene ENSMUSG00000022022
Gene Namemitochondrial translational release factor 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL02290
Quality Score
Status
Chromosome14
Chromosomal Location79397772-79423587 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 79401811 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 128 (E128*)
Ref Sequence ENSEMBL: ENSMUSP00000022600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022600]
Predicted Effect probably null
Transcript: ENSMUST00000022600
AA Change: E128*
SMART Domains Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: E128*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227610
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 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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik G A 13: 60,853,530 P128S probably damaging Het
Abca9 A G 11: 110,135,351 V961A probably damaging Het
Atp2a1 A G 7: 126,452,649 probably benign Het
Col25a1 T A 3: 130,519,811 probably benign Het
Col27a1 A G 4: 63,225,926 D617G probably damaging Het
Cpz T C 5: 35,511,142 T375A probably benign Het
Faxc T A 4: 21,993,390 S345T possibly damaging Het
Ganc C T 2: 120,448,423 T707I possibly damaging Het
Hars2 T C 18: 36,785,626 V55A possibly damaging Het
Lama4 A T 10: 39,017,364 I156F probably benign Het
Ndc1 T C 4: 107,394,995 probably benign Het
Ntrk1 A C 3: 87,781,771 N537K probably benign Het
Olfr1198 T C 2: 88,746,385 T168A probably benign Het
Olfr23 A G 11: 73,940,869 I208V probably benign Het
Scn11a A G 9: 119,774,442 I1053T probably damaging Het
Slc27a4 T A 2: 29,815,729 L643Q probably damaging Het
Tsnaxip1 C A 8: 105,833,487 P24T probably benign Het
Vmn1r78 A G 7: 12,153,155 E231G probably damaging Het
Vmn2r124 T G 17: 18,073,335 H561Q probably benign Het
Zbtb12 G A 17: 34,895,472 A78T probably damaging Het
Zp3r C T 1: 130,619,365 V25I possibly damaging 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
IGL02929:Mtrf1 APN 14 79402833 missense probably benign 0.00
IGL03342:Mtrf1 APN 14 79415871 splice site probably benign
IGL03342:Mtrf1 APN 14 79415872 splice site probably null
IGL03342:Mtrf1 APN 14 79415980 missense possibly damaging 0.80
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
Posted On2015-04-16