Incidental Mutation 'IGL03169:Mterf2'
ID 411758
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 # IGL03169
Quality Score
Status
Chromosome 10
Chromosomal Location 84955297-84963891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84956324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 100 (R100H)
Ref Sequence ENSEMBL: ENSMUSP00000062762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050813] [ENSMUST00000095383] [ENSMUST00000214193] [ENSMUST00000214607] [ENSMUST00000216771] [ENSMUST00000217027]
AlphaFold Q8BKY8
Predicted Effect probably benign
Transcript: ENSMUST00000050813
AA Change: R100H

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000062762
Gene: ENSMUSG00000049038
AA Change: R100H

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A T 8: 84,658,624 (GRCm39) I548F probably damaging Het
Adgrv1 T A 13: 81,652,019 (GRCm39) Q2995L probably damaging Het
Capn9 T C 8: 125,332,616 (GRCm39) I485T probably damaging Het
Ccdc17 T A 4: 116,454,957 (GRCm39) I197N probably damaging Het
Chl1 T A 6: 103,642,928 (GRCm39) L222Q probably damaging Het
Ctla4 T C 1: 60,953,764 (GRCm39) probably benign Het
Cyp2d12 T C 15: 82,443,492 (GRCm39) S485P probably benign Het
Ddx50 A T 10: 62,457,166 (GRCm39) probably null Het
Dlgap4 C A 2: 156,552,938 (GRCm39) probably null Het
Dpysl4 G A 7: 138,679,826 (GRCm39) probably null Het
Erbin T C 13: 103,977,740 (GRCm39) M606V possibly damaging Het
Fat4 T G 3: 39,011,547 (GRCm39) S2216A probably benign Het
Frem2 T C 3: 53,429,713 (GRCm39) N2779S probably benign Het
Fut1 T C 7: 45,268,457 (GRCm39) V82A probably benign Het
Gnb1l C T 16: 18,359,205 (GRCm39) A2V probably damaging Het
Hdac1 C T 4: 129,412,624 (GRCm39) E327K probably null Het
Hdlbp A G 1: 93,344,309 (GRCm39) V819A possibly damaging Het
Ift122 T C 6: 115,882,922 (GRCm39) probably benign Het
Iqgap2 T C 13: 95,867,785 (GRCm39) probably null Het
Kntc1 T C 5: 123,913,884 (GRCm39) V613A possibly damaging Het
Lamb1 T C 12: 31,373,645 (GRCm39) V1458A probably damaging Het
Lef1 A G 3: 130,988,312 (GRCm39) K265R probably damaging Het
Lrp2 T C 2: 69,353,538 (GRCm39) D574G probably damaging Het
Nr1d2 C T 14: 18,216,703 (GRCm38) R155Q probably damaging Het
Obscn T C 11: 58,964,122 (GRCm39) T3304A probably damaging Het
Or2j3 G T 17: 38,615,992 (GRCm39) S120Y probably damaging Het
Or4a78 A G 2: 89,497,831 (GRCm39) I133T possibly damaging Het
Os9 G A 10: 126,934,463 (GRCm39) T391M probably benign Het
Parp6 C A 9: 59,557,300 (GRCm39) Y131* probably null Het
Plxdc1 T C 11: 97,823,146 (GRCm39) E358G possibly damaging Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Ptprc A T 1: 138,041,357 (GRCm39) S167R probably benign Het
Rad54l2 T C 9: 106,596,263 (GRCm39) D225G probably benign Het
Rgs7 T C 1: 175,098,401 (GRCm39) I53V possibly damaging Het
Rpa1 T C 11: 75,192,183 (GRCm39) D607G probably damaging Het
Shisa5 T A 9: 108,885,560 (GRCm39) H213Q probably damaging Het
Syncrip A G 9: 88,338,496 (GRCm39) probably benign Het
Taf4b T G 18: 14,954,592 (GRCm39) V556G probably damaging Het
Tgif1 A C 17: 71,151,836 (GRCm39) S258R possibly damaging Het
Tmem106a T C 11: 101,481,284 (GRCm39) probably benign Het
Vmn1r113 A T 7: 20,522,012 (GRCm39) H268L probably benign Het
Vmn1r40 A T 6: 89,692,005 (GRCm39) Q274L probably damaging Het
Wdr70 A C 15: 7,913,821 (GRCm39) I609M possibly damaging Het
Wdr91 G A 6: 34,882,426 (GRCm39) S241L possibly damaging Het
Zfyve9 T C 4: 108,553,022 (GRCm39) Y713C 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
IGL02861:Mterf2 APN 10 84,956,195 (GRCm39) missense probably damaging 0.98
IGL03111:Mterf2 APN 10 84,955,786 (GRCm39) nonsense probably null
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 2016-08-02