Incidental Mutation 'IGL03111:Mterf2'
ID 419179
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 # IGL03111
Quality Score
Status
Chromosome 10
Chromosomal Location 84955297-84963891 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 84955786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 279 (Y279*)
Ref Sequence ENSEMBL: ENSMUSP00000062762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050813] [ENSMUST00000095383] [ENSMUST00000214193] [ENSMUST00000214607] [ENSMUST00000216771] [ENSMUST00000217027]
AlphaFold Q8BKY8
Predicted Effect probably null
Transcript: ENSMUST00000050813
AA Change: Y279*
SMART Domains Protein: ENSMUSP00000062762
Gene: ENSMUSG00000049038
AA Change: Y279*

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,676,040 (GRCm39) D523G probably benign Het
Alkbh1 A C 12: 87,480,907 (GRCm39) H176Q probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arid4a G A 12: 71,086,740 (GRCm39) A193T probably damaging Het
Cdkal1 A G 13: 29,538,684 (GRCm39) S492P possibly damaging Het
Cep170b C T 12: 112,701,613 (GRCm39) T164I probably damaging Het
Chst1 T C 2: 92,443,692 (GRCm39) Y55H possibly damaging Het
Clybl C T 14: 122,639,395 (GRCm39) P320S probably damaging Het
Cpne9 T C 6: 113,277,571 (GRCm39) I430T possibly damaging Het
Cyc1 T G 15: 76,229,072 (GRCm39) S113A probably benign Het
Cyp4b1 C T 4: 115,493,066 (GRCm39) probably benign Het
Dpysl3 T C 18: 43,462,910 (GRCm39) D489G probably damaging Het
Epha3 T C 16: 63,473,809 (GRCm39) D15G probably damaging Het
Ephb4 C A 5: 137,370,767 (GRCm39) F933L probably benign Het
Fan1 A T 7: 63,999,816 (GRCm39) D856E possibly damaging Het
Gabra6 T A 11: 42,207,844 (GRCm39) D208V probably damaging Het
Kif3b T A 2: 153,171,988 (GRCm39) S719R probably benign Het
Ldhd A C 8: 112,353,797 (GRCm39) C439G probably damaging Het
Lipo3 C T 19: 33,559,637 (GRCm39) V78I probably damaging Het
Myo9a G T 9: 59,734,526 (GRCm39) A703S probably benign Het
Ndst3 T A 3: 123,465,745 (GRCm39) T76S possibly damaging Het
Nlrp4f A T 13: 65,330,816 (GRCm39) L859Q probably damaging Het
Nlrp4g T A 9: 124,353,978 (GRCm38) noncoding transcript Het
Or1s2 T A 19: 13,758,343 (GRCm39) Y122* probably null Het
Or51g2 G A 7: 102,622,738 (GRCm39) R154C probably damaging Het
Or6c215 G A 10: 129,637,947 (GRCm39) T149I probably benign Het
Osgin1 A T 8: 120,169,788 (GRCm39) K113M probably damaging Het
Plcb4 T A 2: 135,818,202 (GRCm39) Y823N probably damaging Het
Prg4 T C 1: 150,327,653 (GRCm39) I856V probably benign Het
Pxdn T A 12: 30,032,755 (GRCm39) S180T probably damaging Het
Skint9 T A 4: 112,248,921 (GRCm39) N169I probably benign Het
Slc24a1 T C 9: 64,833,608 (GRCm39) T996A probably damaging Het
Tbc1d20 T C 2: 152,149,998 (GRCm39) Y91H probably damaging Het
Tbc1d9b A G 11: 50,049,369 (GRCm39) Y772C probably damaging Het
Thbd T A 2: 148,248,392 (GRCm39) E492V probably benign Het
Thra A G 11: 98,651,855 (GRCm39) probably benign Het
Tmem131 A G 1: 36,867,225 (GRCm39) S403P probably damaging Het
Zfp455 T C 13: 67,356,063 (GRCm39) S444P probably benign Het
Zfp946 A G 17: 22,673,537 (GRCm39) H97R possibly 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
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 2016-08-02