Incidental Mutation 'R3417:Mterf1a'
ID 266839
Institutional Source Beutler Lab
Gene Symbol Mterf1a
Ensembl Gene ENSMUSG00000040429
Gene Name mitochondrial transcription termination factor 1a
Synonyms 9230106K09Rik, 4931431L11Rik, Mterf1, Mterf
MMRRC Submission 040635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R3417 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 3940581-3943933 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3940795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 358 (S358P)
Ref Sequence ENSEMBL: ENSMUSP00000113306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044746] [ENSMUST00000117463]
AlphaFold Q8CHZ9
Predicted Effect probably damaging
Transcript: ENSMUST00000044746
AA Change: S358P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046017
Gene: ENSMUSG00000040429
AA Change: S358P

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 probably damaging
Transcript: ENSMUST00000117463
AA Change: S358P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113306
Gene: ENSMUSG00000040429
AA Change: S358P

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,224,302 (GRCm39) probably benign Het
Adgrl2 T C 3: 148,564,965 (GRCm39) Y201C probably damaging Het
Ankar A G 1: 72,698,135 (GRCm39) probably null Het
Ankrd17 G A 5: 90,391,772 (GRCm39) T1857I possibly damaging Het
Atp6v0d2 A G 4: 19,888,829 (GRCm39) probably benign Het
Cep170 G T 1: 176,583,610 (GRCm39) P923Q probably damaging Het
Cfc1 A T 1: 34,575,457 (GRCm39) R44* probably null Het
Col6a1 C T 10: 76,548,203 (GRCm39) V618M unknown Het
Crmp1 A T 5: 37,426,031 (GRCm39) I159L possibly damaging Het
Crocc G A 4: 140,773,758 (GRCm39) T103I possibly damaging Het
Cyp4f39 T C 17: 32,708,716 (GRCm39) V421A possibly damaging Het
Ero1a T C 14: 45,525,323 (GRCm39) T401A possibly damaging Het
Exoc6b C G 6: 84,867,547 (GRCm39) L288F possibly damaging Het
Fsip2 G A 2: 82,816,854 (GRCm39) V4196I possibly damaging Het
Icosl A T 10: 77,907,869 (GRCm39) N143I possibly damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Irag1 T C 7: 110,476,161 (GRCm39) T597A possibly damaging Het
Jrk A G 15: 74,578,734 (GRCm39) Y184H probably damaging Het
Kdm5b T C 1: 134,515,715 (GRCm39) L113P probably damaging Het
Klhl42 G A 6: 147,009,378 (GRCm39) V406M probably damaging Het
Lrp12 A G 15: 39,741,678 (GRCm39) F365L probably damaging Het
Lrrc37 A T 11: 103,505,435 (GRCm39) S2178T possibly damaging Het
Map4k5 A T 12: 69,856,038 (GRCm39) V716E probably damaging Het
Mcm9 T C 10: 53,413,503 (GRCm39) T1264A possibly damaging Het
Mia3 T A 1: 183,143,444 (GRCm39) D100V probably damaging Het
Mrgprb2 C A 7: 48,202,281 (GRCm39) R148L probably damaging Het
Myd88 T C 9: 119,166,556 (GRCm39) I253V possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nqo2 G T 13: 34,163,616 (GRCm39) V92L probably benign Het
Or4k2 T A 14: 50,424,069 (GRCm39) T202S possibly damaging Het
Pcdhb15 A T 18: 37,608,216 (GRCm39) N483Y probably damaging Het
Pds5a A G 5: 65,795,235 (GRCm39) F667S probably damaging Het
Plxnb1 C A 9: 108,929,828 (GRCm39) A228E probably damaging Het
Prpsap1 T C 11: 116,369,410 (GRCm39) S179G probably benign Het
Rtl4 C T X: 143,902,901 (GRCm39) Q108* probably null Het
Scn8a A G 15: 100,869,549 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc44a1 G A 4: 53,553,549 (GRCm39) V519I probably benign Het
Smg1 G C 7: 117,748,076 (GRCm39) probably benign Het
Sptlc2 A G 12: 87,393,582 (GRCm39) probably benign Het
St13 A T 15: 81,253,651 (GRCm39) probably benign Het
Strbp C G 2: 37,480,737 (GRCm39) R610T possibly damaging Het
Tas2r124 A T 6: 132,732,601 (GRCm39) R303S probably benign Het
Tex55 A C 16: 38,649,102 (GRCm39) D2E probably benign Het
Tgm3 G A 2: 129,889,692 (GRCm39) V629M possibly damaging Het
Tnr T C 1: 159,722,612 (GRCm39) V1019A probably benign Het
Ttn A T 2: 76,615,908 (GRCm39) C14932* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Other mutations in Mterf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Mterf1a APN 5 3,941,610 (GRCm39) missense probably damaging 1.00
IGL00776:Mterf1a APN 5 3,941,809 (GRCm39) missense possibly damaging 0.88
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
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
Predicted Primers PCR Primer
(F):5'- GTCTGCGGTGAAAAGTCAAAAC -3'
(R):5'- GGAGGTACAGAGGTTTGTCC -3'

Sequencing Primer
(F):5'- CATGACTAAGTTGGTCCTGGAACC -3'
(R):5'- TGTCCTAAGCTATCTGAATATGGTC -3'
Posted On 2015-02-18