Incidental Mutation 'R0141:Tfb1m'
ID 22344
Institutional Source Beutler Lab
Gene Symbol Tfb1m
Ensembl Gene ENSMUSG00000036983
Gene Name transcription factor B1, mitochondrial
Synonyms
MMRRC Submission 038426-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0141 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 3569531-3608056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3605232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 87 (D87G)
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 damaging
Transcript: ENSMUST00000041003
AA Change: D87G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983
AA Change: D87G

DomainStartEndE-ValueType
rADc 43 234 5.56e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232131
Meta Mutation Damage Score 0.9612 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.9%
Validation Efficiency 88% (50/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A C 13: 91,919,947 (GRCm39) D294A probably benign Het
Adamts9 T C 6: 92,920,066 (GRCm39) D24G probably benign Het
Ahnak G A 19: 8,984,044 (GRCm39) G1776D probably damaging Het
Arfgef3 C A 10: 18,473,155 (GRCm39) C1636F probably damaging Het
AW551984 A G 9: 39,501,940 (GRCm39) L722P probably damaging Het
Ccndbp1 T A 2: 120,842,903 (GRCm39) M188K probably damaging Het
Col27a1 A T 4: 63,183,870 (GRCm39) probably null Het
Cpt1c A G 7: 44,616,095 (GRCm39) Y306H probably damaging Het
Cyp3a57 A G 5: 145,298,912 (GRCm39) I71V probably benign Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dmrt2 A T 19: 25,655,655 (GRCm39) Q418L possibly damaging Het
Ebf1 T C 11: 44,798,827 (GRCm39) L284S probably damaging Het
Fam131a G A 16: 20,517,738 (GRCm39) A15T probably benign Het
Fbxo17 A G 7: 28,432,916 (GRCm39) T146A possibly damaging Het
Fer1l6 A G 15: 58,430,251 (GRCm39) E226G probably damaging Het
Galnt18 A T 7: 111,198,238 (GRCm39) I174N probably damaging Het
Gm44501 T C 17: 40,889,744 (GRCm39) I86T probably benign Het
Gtsf1l T C 2: 162,929,246 (GRCm39) Q79R probably benign Het
Hapln4 T C 8: 70,540,930 (GRCm39) L321P probably damaging Het
Herc2 A G 7: 55,771,309 (GRCm39) T1024A probably benign Het
Hps5 A G 7: 46,438,605 (GRCm39) S43P probably damaging Het
Igsf10 A G 3: 59,238,253 (GRCm39) Y643H probably damaging Het
Lama4 G A 10: 38,968,274 (GRCm39) R1472H probably benign Het
Lhx9 A G 1: 138,767,744 (GRCm39) Y73H possibly damaging Het
Loxl1 T A 9: 58,219,415 (GRCm39) Q252L probably damaging Het
Lrrc37 A C 11: 103,504,512 (GRCm39) I2485M probably damaging Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nr3c2 T A 8: 77,635,037 (GRCm39) V46D probably damaging Het
Or11h4 T C 14: 50,973,840 (GRCm39) S260G possibly damaging Het
Or4k77 T A 2: 111,199,835 (GRCm39) I286N probably damaging Het
Or5i1 C G 2: 87,613,049 (GRCm39) P55R possibly damaging Het
Or5p63 A C 7: 107,811,210 (GRCm39) N175K possibly damaging Het
Or5p70 A T 7: 107,994,575 (GRCm39) N83Y probably benign Het
Osbp T C 19: 11,951,223 (GRCm39) V256A possibly damaging Het
Pclo A T 5: 14,841,936 (GRCm39) D4737V unknown Het
Pkdrej A G 15: 85,699,831 (GRCm39) I2035T probably damaging Het
Plek2 A G 12: 78,941,278 (GRCm39) S185P probably damaging Het
Pnpla6 G T 8: 3,582,117 (GRCm39) probably null Het
Pou3f2 T C 4: 22,487,210 (GRCm39) T308A possibly damaging Het
Pramel22 T C 4: 143,381,138 (GRCm39) Y295C probably benign Het
Pxmp4 A G 2: 154,434,215 (GRCm39) V82A probably damaging Het
Rnf6 A T 5: 146,148,645 (GRCm39) N135K possibly damaging Het
Rtl1 A G 12: 109,559,382 (GRCm39) V819A probably damaging Het
Scn1a C A 2: 66,119,406 (GRCm39) V1355L probably damaging Het
Scn2a T A 2: 65,542,160 (GRCm39) N754K probably benign Het
Serpina3b A T 12: 104,097,030 (GRCm39) N104Y probably damaging Het
Sh3rf2 T C 18: 42,289,122 (GRCm39) S648P probably benign Het
Slc17a6 G A 7: 51,318,815 (GRCm39) V486I probably benign Het
Spata31e2 A T 1: 26,722,863 (GRCm39) N772K probably benign Het
Syne2 T G 12: 75,988,072 (GRCm39) D1743E probably damaging Het
Tex14 T G 11: 87,383,857 (GRCm39) probably null Het
Tll2 C T 19: 41,086,351 (GRCm39) G609S probably damaging Het
Tsc22d2 A T 3: 58,324,577 (GRCm39) probably benign Het
Tsen2 A G 6: 115,545,790 (GRCm39) D360G probably damaging Het
Ugt2b37 G A 5: 87,388,842 (GRCm39) P457L probably damaging Het
Vmn1r68 T C 7: 10,261,252 (GRCm39) N282S possibly damaging Het
Vmn2r58 G A 7: 41,511,309 (GRCm39) S498F probably benign Het
Zfp959 T C 17: 56,205,139 (GRCm39) I392T probably benign Het
Other mutations in Tfb1m
AlleleSourceChrCoordTypePredicted EffectPPH Score
Pistolero UTSW 17 3,593,422 (GRCm39) missense probably benign 0.00
R1350:Tfb1m UTSW 17 3,595,955 (GRCm39) missense probably benign 0.00
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'- GCTGTGAGCAACAGCCCTTTTG -3'
(R):5'- TCCTCTTCAGGTAAGGAACTGGTGC -3'

Sequencing Primer
(F):5'- TGGGGACTCCTGTACAAATGC -3'
(R):5'- CTGGTGCAGTACAGTGGTATACG -3'
Posted On 2013-04-16