Incidental Mutation 'R1350:Tfb1m'
ID 159546
Institutional Source Beutler Lab
Gene Symbol Tfb1m
Ensembl Gene ENSMUSG00000036983
Gene Name transcription factor B1, mitochondrial
Synonyms
MMRRC Submission 039415-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1350 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 3569531-3608056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3595955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 99 (D99E)
Ref Sequence ENSEMBL: ENSMUSP00000035291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041003]
AlphaFold Q8JZM0
PDB Structure Crystal structure of murine TFB1M [X-RAY DIFFRACTION]
Crystal structure of murine TFB1M in complex with SAM [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000041003
AA Change: D99E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983
AA Change: D99E

DomainStartEndE-ValueType
rADc 43 234 5.56e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232131
Meta Mutation Damage Score 0.0607 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.1%
Validation Efficiency 95% (57/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality associated with developmental defects and reduced mitochondrial function at E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 A G 4: 126,400,925 (GRCm39) V640A probably benign Het
AI661453 C T 17: 47,778,853 (GRCm39) Q860* probably null Het
Atp10d A G 5: 72,418,469 (GRCm39) probably benign Het
Axdnd1 A G 1: 156,205,950 (GRCm39) probably null Het
Bivm T A 1: 44,165,863 (GRCm39) N104K possibly damaging Het
Capn15 A G 17: 26,183,666 (GRCm39) S338P probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccn6 C T 10: 39,034,302 (GRCm39) C100Y probably damaging Het
Col13a1 G A 10: 61,729,848 (GRCm39) probably benign Het
Crb2 A G 2: 37,682,081 (GRCm39) N821D probably damaging Het
D5Ertd579e T A 5: 36,771,081 (GRCm39) I1105F probably damaging Het
Dnaja2 A T 8: 86,266,717 (GRCm39) F337I probably damaging Het
Dntt C T 19: 41,025,578 (GRCm39) probably benign Het
Dock3 C T 9: 106,791,831 (GRCm39) E1381K possibly damaging Het
Fibp T C 19: 5,511,419 (GRCm39) Y96H probably damaging Het
Garnl3 A G 2: 32,942,226 (GRCm39) V85A probably damaging Het
Gsdme A T 6: 50,223,108 (GRCm39) probably null Het
Gucy2c A T 6: 136,720,912 (GRCm39) probably null Het
Hectd1 A G 12: 51,809,217 (GRCm39) V1748A probably benign Het
Hepacam2 G A 6: 3,467,530 (GRCm39) Q384* probably null Het
Itga10 T A 3: 96,564,793 (GRCm39) M961K probably benign Het
Kcnk1 C T 8: 126,751,967 (GRCm39) T191I probably benign Het
Khdrbs1 G A 4: 129,614,545 (GRCm39) P336L probably benign Het
Klhdc2 T A 12: 69,352,484 (GRCm39) probably null Het
Lipc T C 9: 70,705,649 (GRCm39) H478R probably benign Het
Lrp12 A T 15: 39,741,646 (GRCm39) C356* probably null Het
Nf1 T A 11: 79,303,513 (GRCm39) C397S probably damaging Het
Nox3 A G 17: 3,700,396 (GRCm39) F439S probably damaging Het
Or12e9 T A 2: 87,202,701 (GRCm39) V275E probably benign Het
Or13a18 T C 7: 140,190,622 (GRCm39) V181A probably damaging Het
Or3a1b T C 11: 74,013,039 (GRCm39) L308P possibly damaging Het
Or4b12 A T 2: 90,096,690 (GRCm39) L28Q probably damaging Het
Or51b17 A G 7: 103,542,937 (GRCm39) W2R probably benign Het
Or7g29 T G 9: 19,286,710 (GRCm39) S156R possibly damaging Het
Or8b37 G A 9: 37,959,111 (GRCm39) V198I probably benign Het
Pcif1 T C 2: 164,728,687 (GRCm39) F288L probably damaging Het
Prxl2b C A 4: 154,982,585 (GRCm39) R107L probably damaging Het
Skint7 G T 4: 111,837,521 (GRCm39) A100S possibly damaging Het
Ssu2 A T 6: 112,351,807 (GRCm39) L306* probably null Het
Tasp1 T C 2: 139,899,341 (GRCm39) E4G probably damaging Het
Ube3b A G 5: 114,544,198 (GRCm39) probably null Het
Uox A G 3: 146,330,330 (GRCm39) D162G probably damaging Het
Usp18 A G 6: 121,239,651 (GRCm39) T249A possibly damaging Het
Vmn1r202 T C 13: 22,685,886 (GRCm39) N177S probably benign Het
Vwa2 T A 19: 56,897,558 (GRCm39) M621K probably damaging Het
Wdfy3 C A 5: 102,046,418 (GRCm39) D1797Y probably damaging Het
Ylpm1 A T 12: 85,060,856 (GRCm39) probably benign Het
Zbtb9 G A 17: 27,193,380 (GRCm39) V262I probably benign Het
Other mutations in Tfb1m
AlleleSourceChrCoordTypePredicted EffectPPH Score
Pistolero UTSW 17 3,593,422 (GRCm39) missense probably benign 0.00
R0141:Tfb1m UTSW 17 3,605,232 (GRCm39) missense probably damaging 1.00
R1557:Tfb1m UTSW 17 3,605,241 (GRCm39) missense probably damaging 0.98
R1924:Tfb1m UTSW 17 3,569,946 (GRCm39) missense probably damaging 1.00
R4076:Tfb1m UTSW 17 3,571,945 (GRCm39) missense probably damaging 1.00
R5928:Tfb1m UTSW 17 3,593,422 (GRCm39) missense probably benign 0.00
R8174:Tfb1m UTSW 17 3,569,855 (GRCm39) missense probably benign
R8739:Tfb1m UTSW 17 3,569,927 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGGTGGCCTGCTTTACAACATTTG -3'
(R):5'- GCAGAAACACTGTGGCTTCATTGG -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- TCAGTGCTCACACAGCATTC -3'
Posted On 2014-03-14