Incidental Mutation 'IGL02861:Mterf2'
ID 362148
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mterf2
Ensembl Gene ENSMUSG00000049038
Gene Name mitochondrial transcription termination factor 2
Synonyms Mterfd3, 1700007D05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL02861
Quality Score
Status
Chromosome 10
Chromosomal Location 84955297-84963891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 84956195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 143 (V143G)
Ref Sequence ENSEMBL: ENSMUSP00000062762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050813] [ENSMUST00000095383] [ENSMUST00000214193] [ENSMUST00000214607] [ENSMUST00000216771] [ENSMUST00000217027]
AlphaFold Q8BKY8
Predicted Effect probably damaging
Transcript: ENSMUST00000050813
AA Change: V143G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062762
Gene: ENSMUSG00000049038
AA Change: V143G

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
Blast:Mterf 60 90 2e-7 BLAST
Blast:Mterf 95 126 1e-10 BLAST
Mterf 130 162 5.31e2 SMART
Blast:Mterf 167 197 8e-10 BLAST
Mterf 210 240 2.12e2 SMART
Mterf 282 312 8.02e-2 SMART
Mterf 313 343 1.02e3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095383
SMART Domains Protein: ENSMUSP00000093030
Gene: ENSMUSG00000060935

DomainStartEndE-ValueType
Pfam:UPF0444 24 114 1.7e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214193
Predicted Effect probably benign
Transcript: ENSMUST00000214607
Predicted Effect probably benign
Transcript: ENSMUST00000216771
Predicted Effect probably benign
Transcript: ENSMUST00000217027
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene-trapped allele gain less weight than wild-type controls, develop a myopathy, and show memory deficits, decreased levels of mitochondrial transcripts, an imbalanced tRNA pool, impaired oxidative phosphorylation, reduced respiratory function, and enlarged mitochondrial mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,001,146 (GRCm39) probably benign Het
6430548M08Rik G A 8: 120,876,863 (GRCm39) R157H probably damaging Het
Amer3 A G 1: 34,627,206 (GRCm39) K482E probably damaging Het
Ankrd11 A T 8: 123,622,566 (GRCm39) S429T probably damaging Het
Ano3 T A 2: 110,569,157 (GRCm39) N125I probably damaging Het
BC106179 T A 16: 23,042,746 (GRCm39) probably benign Het
Bclaf3 T C X: 158,338,524 (GRCm39) I457T possibly damaging Het
Cbr3 T G 16: 93,482,007 (GRCm39) V121G probably damaging Het
Cd44 A G 2: 102,662,826 (GRCm39) probably null Het
Cd72 G A 4: 43,448,332 (GRCm39) A316V probably benign Het
Cdc27 A T 11: 104,413,657 (GRCm39) probably benign Het
Cdon A T 9: 35,398,253 (GRCm39) Q990L probably damaging Het
Clk2 T C 3: 89,080,706 (GRCm39) W231R probably damaging Het
Cpsf2 G A 12: 101,965,825 (GRCm39) V597I probably benign Het
D630003M21Rik A G 2: 158,042,918 (GRCm39) V874A probably benign Het
Daam2 A G 17: 49,776,455 (GRCm39) F811L probably damaging Het
Ddx54 T C 5: 120,756,195 (GRCm39) probably benign Het
Dysf T A 6: 84,016,519 (GRCm39) L59Q probably damaging Het
Eps8 A G 6: 137,476,597 (GRCm39) Y601H probably damaging Het
Faf2 T C 13: 54,796,235 (GRCm39) Y131H probably damaging Het
Hectd4 T A 5: 121,445,067 (GRCm39) D101E possibly damaging Het
Hk2 T C 6: 82,737,139 (GRCm39) T30A possibly damaging Het
Il27 A T 7: 126,191,821 (GRCm39) L77Q probably damaging Het
Klhdc1 T A 12: 69,298,225 (GRCm39) V83D possibly damaging Het
Manba T G 3: 135,276,024 (GRCm39) S822A probably benign Het
Ncapd3 A G 9: 26,981,195 (GRCm39) D895G probably benign Het
Or4c115 T A 2: 88,927,801 (GRCm39) I157L probably benign Het
Or6n1 T A 1: 173,916,602 (GRCm39) probably benign Het
Panx1 T C 9: 14,919,101 (GRCm39) K253E probably benign Het
Phc1 T A 6: 122,300,748 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A G 17: 42,688,208 (GRCm39) E250G probably damaging Het
Rp1 G T 1: 4,416,375 (GRCm39) S1579* probably null Het
Rrp1 A G 10: 78,245,056 (GRCm39) probably benign Het
Ryr3 A G 2: 112,483,186 (GRCm39) L4187P possibly damaging Het
Serpinc1 A T 1: 160,827,561 (GRCm39) I387F probably damaging Het
Slc2a7 G A 4: 150,252,836 (GRCm39) C492Y probably benign Het
Slf1 A G 13: 77,274,478 (GRCm39) probably benign Het
Spta1 T A 1: 174,039,164 (GRCm39) L1169Q probably damaging Het
Stap1 T A 5: 86,219,824 (GRCm39) probably benign Het
Taf6 A G 5: 138,182,147 (GRCm39) L66P probably damaging Het
Ttn T C 2: 76,632,841 (GRCm39) E14071G probably damaging Het
Unk A G 11: 115,947,125 (GRCm39) H586R possibly damaging Het
Zfpm2 A C 15: 40,966,662 (GRCm39) K917T probably damaging Het
Other mutations in Mterf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Mterf2 APN 10 84,955,677 (GRCm39) missense probably damaging 0.97
IGL02553:Mterf2 APN 10 84,956,331 (GRCm39) missense probably damaging 0.99
IGL02851:Mterf2 APN 10 84,955,878 (GRCm39) missense probably damaging 0.97
IGL03111:Mterf2 APN 10 84,955,786 (GRCm39) nonsense probably null
IGL03169:Mterf2 APN 10 84,956,324 (GRCm39) missense probably benign 0.02
R0941:Mterf2 UTSW 10 84,955,934 (GRCm39) missense possibly damaging 0.74
R2241:Mterf2 UTSW 10 84,956,180 (GRCm39) missense possibly damaging 0.57
R3825:Mterf2 UTSW 10 84,956,147 (GRCm39) missense probably damaging 1.00
R4964:Mterf2 UTSW 10 84,955,979 (GRCm39) missense probably damaging 1.00
R5015:Mterf2 UTSW 10 84,955,596 (GRCm39) missense probably benign 0.00
R6586:Mterf2 UTSW 10 84,955,970 (GRCm39) missense probably damaging 1.00
R7032:Mterf2 UTSW 10 84,956,527 (GRCm39) nonsense probably null
R7405:Mterf2 UTSW 10 84,956,360 (GRCm39) missense probably damaging 1.00
R7705:Mterf2 UTSW 10 84,956,381 (GRCm39) missense probably damaging 1.00
R8079:Mterf2 UTSW 10 84,956,027 (GRCm39) missense probably damaging 1.00
R9375:Mterf2 UTSW 10 84,956,327 (GRCm39) missense probably damaging 1.00
R9626:Mterf2 UTSW 10 84,956,295 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18