Incidental Mutation 'IGL00776:Mterf1a'
ID 12118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mterf1a
Ensembl Gene ENSMUSG00000040429
Gene Name mitochondrial transcription termination factor 1a
Synonyms 9230106K09Rik, 4931431L11Rik, Mterf1, Mterf
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # IGL00776
Quality Score
Status
Chromosome 5
Chromosomal Location 3940581-3943933 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 3941809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 20 (W20G)
Ref Sequence ENSEMBL: ENSMUSP00000113306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044746] [ENSMUST00000117463]
AlphaFold Q8CHZ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000044746
AA Change: W20G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046017
Gene: ENSMUSG00000040429
AA Change: W20G

DomainStartEndE-ValueType
low complexity region 41 59 N/A INTRINSIC
Mterf 104 134 1.62e2 SMART
Mterf 139 171 5.81e1 SMART
Mterf 176 206 3.63e0 SMART
Mterf 217 248 8.87e-4 SMART
Mterf 293 323 9.87e2 SMART
Mterf 324 354 1.1e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117463
AA Change: W20G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113306
Gene: ENSMUSG00000040429
AA Change: W20G

DomainStartEndE-ValueType
low complexity region 41 59 N/A INTRINSIC
Mterf 104 134 1.62e2 SMART
Mterf 139 171 5.81e1 SMART
Mterf 176 206 3.63e0 SMART
Mterf 217 248 8.87e-4 SMART
Mterf 293 323 9.87e2 SMART
Mterf 324 354 1.1e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196417
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A T 2: 19,545,182 (GRCm39) D90E probably benign Het
Abcb5 T C 12: 118,883,589 (GRCm39) S560G probably damaging Het
Ankrd24 A C 10: 81,478,979 (GRCm39) probably benign Het
Atp8a1 A T 5: 67,906,486 (GRCm39) I461N probably benign Het
Eif4a1 G A 11: 69,559,922 (GRCm39) L166F probably damaging Het
Herc1 T A 9: 66,328,320 (GRCm39) H1542Q probably benign Het
Itih4 G A 14: 30,611,561 (GRCm39) V95I probably benign Het
Kcnh7 A G 2: 62,680,720 (GRCm39) I289T probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Slc24a5 T C 2: 124,922,809 (GRCm39) S161P probably damaging Het
Slc25a21 G A 12: 56,816,990 (GRCm39) T99I probably benign Het
Smurf1 A G 5: 144,818,584 (GRCm39) S619P probably benign Het
Sorbs1 C T 19: 40,332,795 (GRCm39) probably null Het
Strn4 C T 7: 16,564,377 (GRCm39) R185C probably damaging Het
Tctn3 A G 19: 40,585,865 (GRCm39) F560S probably damaging Het
Other mutations in Mterf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Mterf1a APN 5 3,941,610 (GRCm39) missense probably damaging 1.00
IGL02420:Mterf1a APN 5 3,941,047 (GRCm39) missense probably damaging 0.99
IGL02525:Mterf1a APN 5 3,941,583 (GRCm39) missense probably benign 0.09
R0270:Mterf1a UTSW 5 3,940,990 (GRCm39) nonsense probably null
R1170:Mterf1a UTSW 5 3,940,964 (GRCm39) missense probably benign 0.16
R2386:Mterf1a UTSW 5 3,941,225 (GRCm39) missense probably benign 0.00
R3417:Mterf1a UTSW 5 3,940,795 (GRCm39) missense probably damaging 0.99
R4520:Mterf1a UTSW 5 3,940,992 (GRCm39) missense probably damaging 0.99
R4573:Mterf1a UTSW 5 3,941,119 (GRCm39) missense possibly damaging 0.72
R5068:Mterf1a UTSW 5 3,941,854 (GRCm39) missense probably benign 0.00
R5111:Mterf1a UTSW 5 3,941,860 (GRCm39) missense probably benign 0.00
R5152:Mterf1a UTSW 5 3,940,984 (GRCm39) missense probably damaging 0.98
R6974:Mterf1a UTSW 5 3,940,854 (GRCm39) missense probably benign 0.25
R7096:Mterf1a UTSW 5 3,941,769 (GRCm39) missense probably damaging 0.99
R7545:Mterf1a UTSW 5 3,940,995 (GRCm39) missense probably damaging 1.00
R7704:Mterf1a UTSW 5 3,941,845 (GRCm39) missense probably benign
R8249:Mterf1a UTSW 5 3,941,550 (GRCm39) missense probably damaging 1.00
R8385:Mterf1a UTSW 5 3,941,384 (GRCm39) missense probably damaging 1.00
R8865:Mterf1a UTSW 5 3,941,425 (GRCm39) missense probably damaging 1.00
R9280:Mterf1a UTSW 5 3,941,539 (GRCm39) missense probably damaging 1.00
R9558:Mterf1a UTSW 5 3,941,807 (GRCm39) nonsense probably null
R9559:Mterf1a UTSW 5 3,941,807 (GRCm39) nonsense probably null
Posted On 2012-12-06