Incidental Mutation 'IGL01356:Mtrf1'
ID75542
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 #IGL01356
Quality Score
Status
Chromosome14
Chromosomal Location79397772-79423587 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79423425 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 419 (D419G)
Ref Sequence ENSEMBL: ENSMUSP00000022600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022600] [ENSMUST00000061222]
Predicted Effect probably benign
Transcript: ENSMUST00000022600
AA Change: D419G

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: D419G

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 probably benign
Transcript: ENSMUST00000061222
SMART Domains Protein: ENSMUSP00000060768
Gene: ENSMUSG00000043881

DomainStartEndE-ValueType
Blast:BTB 11 44 2e-11 BLAST
BTB 63 168 1.05e-23 SMART
BACK 173 279 1.41e-19 SMART
low complexity region 317 340 N/A INTRINSIC
Pfam:Kelch_1 434 481 1.7e-9 PFAM
low complexity region 657 676 N/A INTRINSIC
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik C T 19: 45,966,303 C149Y possibly damaging Het
9230113P08Rik T A 9: 35,908,948 C33* probably null Het
AA474408 T C 7: 110,060,982 probably benign Het
Acsl1 T C 8: 46,511,463 probably null Het
Adck2 T C 6: 39,583,920 V463A probably benign Het
B4galt4 T A 16: 38,754,144 I224N probably damaging Het
Caprin1 T C 2: 103,775,456 T396A probably benign Het
Cbx3 T C 6: 51,475,301 V32A probably damaging Het
Chd1 A T 17: 15,749,865 K960I probably damaging Het
Cldn4 A G 5: 134,946,489 I86T probably benign Het
Cst12 A C 2: 148,789,548 D50A probably damaging Het
Dock10 A G 1: 80,523,742 Y1864H probably damaging Het
Dscaml1 G A 9: 45,746,857 G1642E probably benign Het
Jakmip3 T C 7: 139,017,612 L241P probably damaging Het
Kdm1a C T 4: 136,553,891 R669H probably damaging Het
Lin54 G A 5: 100,454,017 P455S probably damaging Het
Lrig1 G A 6: 94,609,893 P601S probably damaging Het
Lrig1 A G 6: 94,654,920 Y100H probably benign Het
Naca C T 10: 128,041,715 probably benign Het
Naip1 A G 13: 100,423,214 L1094P probably damaging Het
Nell2 A T 15: 95,229,183 N770K probably damaging Het
Notch4 A G 17: 34,581,026 H987R possibly damaging Het
Olfr437 T A 6: 43,167,390 C111S probably damaging Het
Olfr487 T A 7: 108,211,726 I268F probably benign Het
Olfr844 T A 9: 19,318,942 M142K probably damaging Het
Plcg1 G T 2: 160,753,893 G561W probably damaging Het
Ripor3 T A 2: 167,993,575 M159L probably benign Het
Serpinb6a A G 13: 33,925,417 S111P possibly damaging Het
Tas1r3 A T 4: 155,861,327 H537Q probably benign Het
Tefm G A 11: 80,137,997 R43* probably null Het
Tiam1 A G 16: 89,837,788 V878A probably damaging Het
Vmn1r203 A G 13: 22,524,777 S243G probably damaging Het
Vmn2r124 G T 17: 18,073,471 V607L probably benign Het
Vps8 T G 16: 21,517,357 probably null Het
Ythdf2 A T 4: 132,205,350 D166E possibly damaging Het
Zan A G 5: 137,436,432 V2203A unknown Het
Other mutations in Mtrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
Posted On2013-10-07