Incidental Mutation 'IGL01617:Mterf1b'
ID92406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mterf1b
Ensembl Gene ENSMUSG00000053178
Gene Namemitochondrial transcription termination factor 1b
SynonymsGm9897
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.388) question?
Stock #IGL01617
Quality Score
Status
Chromosome5
Chromosomal Location4192367-4197651 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4196503 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 48 (D48V)
Ref Sequence ENSEMBL: ENSMUSP00000135408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177258]
Predicted Effect probably benign
Transcript: ENSMUST00000177258
AA Change: D48V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135408
Gene: ENSMUSG00000053178
AA Change: D48V

DomainStartEndE-ValueType
low complexity region 43 61 N/A INTRINSIC
Mterf 106 136 1.62e2 SMART
Mterf 141 173 5.81e1 SMART
Mterf 178 208 3.63e0 SMART
Mterf 219 250 8.87e-4 SMART
Mterf 295 325 9.87e2 SMART
Mterf 326 356 1.1e1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele of both Mterf1a and Mterf1b exhibit impaired transcription initiation at light-strand promoters resulting in a decrease of de novo transcription and reduced 7S RNA. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,115,150 I160F possibly damaging Het
BC037034 A T 5: 138,262,216 L47Q probably damaging Het
Cacna1d C T 14: 30,102,371 A1030T probably damaging Het
Ceacam13 A T 7: 18,011,383 D126V possibly damaging Het
Cep68 G T 11: 20,239,510 Q501K probably benign Het
Cfhr1 A T 1: 139,553,679 C154* probably null Het
Chd3 A G 11: 69,358,234 probably benign Het
Chrna5 A G 9: 55,005,013 M262V probably damaging Het
Csrnp2 T C 15: 100,484,643 Y172C probably benign Het
Dzip1 G T 14: 118,881,065 P752Q probably benign Het
Frem1 G A 4: 82,936,139 T1630I probably benign Het
Gabrr1 G A 4: 33,162,634 S400N probably benign Het
Hmcn1 C T 1: 150,672,032 A2723T probably benign Het
Htt A G 5: 34,876,755 H1895R possibly damaging Het
Kif21a T C 15: 90,995,637 probably benign Het
Mitf A G 6: 97,996,428 I241V probably benign Het
Nmbr G T 10: 14,770,429 R349M probably benign Het
Pik3r4 T C 9: 105,654,965 S579P probably benign Het
Polr2i T C 7: 30,232,392 F16S possibly damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rgs11 A G 17: 26,208,250 H385R probably damaging Het
Rufy4 G A 1: 74,129,354 G99R probably damaging Het
Slc29a1 A G 17: 45,589,449 F185S probably benign Het
Spag17 G A 3: 100,109,508 V2200I possibly damaging Het
Ttc7b G T 12: 100,385,956 A414D possibly damaging Het
Ugt2b37 A T 5: 87,251,879 W257R probably damaging Het
Ythdc2 A G 18: 44,841,415 I381M possibly damaging Het
Other mutations in Mterf1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02754:Mterf1b APN 5 4196478 missense possibly damaging 0.93
R0410:Mterf1b UTSW 5 4196488 missense probably benign 0.41
R1474:Mterf1b UTSW 5 4197163 missense probably damaging 1.00
R1875:Mterf1b UTSW 5 4197364 missense possibly damaging 0.96
R2089:Mterf1b UTSW 5 4197057 missense possibly damaging 0.77
R2091:Mterf1b UTSW 5 4197057 missense possibly damaging 0.77
R2091:Mterf1b UTSW 5 4197057 missense possibly damaging 0.77
R4657:Mterf1b UTSW 5 4197176 nonsense probably null
R4689:Mterf1b UTSW 5 4197263 nonsense probably null
R5462:Mterf1b UTSW 5 4196541 missense probably benign 0.04
R5750:Mterf1b UTSW 5 4196683 missense probably damaging 1.00
R5813:Mterf1b UTSW 5 4196956 missense possibly damaging 0.92
R6028:Mterf1b UTSW 5 4197666 splice site probably null
R6248:Mterf1b UTSW 5 4196606 missense probably benign 0.02
R8814:Mterf1b UTSW 5 4197456 missense probably damaging 1.00
R8842:Mterf1b UTSW 5 4196961 missense possibly damaging 0.93
R8962:Mterf1b UTSW 5 4196437 missense probably benign 0.00
Posted On2013-12-09