Incidental Mutation 'R8739:Tfb1m'
ID 663251
Institutional Source Beutler Lab
Gene Symbol Tfb1m
Ensembl Gene ENSMUSG00000036983
Gene Name transcription factor B1, mitochondrial
Synonyms
MMRRC Submission 068586-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8739 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 3569531-3608056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3569927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 313 (E313G)
Ref Sequence ENSEMBL: ENSMUSP00000035291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041003] [ENSMUST00000072156] [ENSMUST00000169838] [ENSMUST00000227405]
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: E313G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983
AA Change: E313G

DomainStartEndE-ValueType
rADc 43 234 5.56e-69 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072156
SMART Domains Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800

DomainStartEndE-ValueType
low complexity region 230 245 N/A INTRINSIC
low complexity region 267 281 N/A INTRINSIC
low complexity region 471 492 N/A INTRINSIC
PH 505 620 7.82e-16 SMART
RBD 831 902 1.32e-26 SMART
PDZ 921 995 2.38e-7 SMART
RhoGEF 1124 1313 2.23e-61 SMART
PH 1347 1478 2.86e0 SMART
low complexity region 1522 1532 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169838
SMART Domains Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800

DomainStartEndE-ValueType
low complexity region 230 245 N/A INTRINSIC
low complexity region 267 281 N/A INTRINSIC
low complexity region 471 492 N/A INTRINSIC
PH 505 620 7.82e-16 SMART
RBD 831 902 1.32e-26 SMART
PDZ 921 995 2.38e-7 SMART
RhoGEF 1124 1313 2.23e-61 SMART
PH 1347 1478 2.86e0 SMART
low complexity region 1522 1532 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227405
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (59/59)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 T C 8: 41,133,480 (GRCm39) V316A possibly damaging Het
Adamts9 T C 6: 92,831,261 (GRCm39) E1364G probably benign Het
Agrn C T 4: 156,257,045 (GRCm39) R1233Q probably benign Het
Ankrd6 A G 4: 32,806,337 (GRCm39) S639P possibly damaging Het
Arid5a A G 1: 36,358,677 (GRCm39) N418S probably benign Het
Cep152 T C 2: 125,461,975 (GRCm39) E69G probably benign Het
Chrnb2 A G 3: 89,669,746 (GRCm39) S109P probably damaging Het
Chuk A G 19: 44,077,135 (GRCm39) S404P probably benign Het
Clec4a3 T C 6: 122,944,508 (GRCm39) Y185H probably damaging Het
Dctd T A 8: 48,591,883 (GRCm39) L149H probably benign Het
Dgkb T A 12: 38,278,323 (GRCm39) probably benign Het
Dhrs13 G C 11: 77,923,492 (GRCm39) R70P possibly damaging Het
Dnah5 G A 15: 28,346,006 (GRCm39) A2449T probably benign Het
Dync1h1 T C 12: 110,581,014 (GRCm39) V247A probably damaging Het
Eef1ece2 G A 16: 20,449,665 (GRCm39) probably benign Het
Espnl T A 1: 91,272,317 (GRCm39) L559Q probably damaging Het
Gak A G 5: 108,739,604 (GRCm39) V627A possibly damaging Het
Gcnt1 A T 19: 17,307,437 (GRCm39) M96K probably benign Het
Ggta1 T C 2: 35,292,572 (GRCm39) D245G probably damaging Het
Hfm1 A T 5: 107,046,371 (GRCm39) F505Y probably damaging Het
Inpp4a A G 1: 37,422,207 (GRCm39) probably benign Het
Kcnj14 C G 7: 45,468,812 (GRCm39) R231P probably damaging Het
Lamc2 A T 1: 153,020,399 (GRCm39) C382* probably null Het
Marveld3 T C 8: 110,688,609 (GRCm39) E44G possibly damaging Het
Mettl17 T C 14: 52,128,848 (GRCm39) F373L possibly damaging Het
Morc3 T A 16: 93,657,398 (GRCm39) L374Q probably damaging Het
Muc16 C T 9: 18,548,594 (GRCm39) D5900N probably benign Het
Myo15a A G 11: 60,368,088 (GRCm39) N283D probably benign Het
Ncapg2 T G 12: 116,379,098 (GRCm39) D197E possibly damaging Het
Nipbl T C 15: 8,332,904 (GRCm39) T2240A probably benign Het
Nrip1 A C 16: 76,088,236 (GRCm39) V1107G possibly damaging Het
Or13a19 T C 7: 139,902,647 (GRCm39) F12L probably damaging Het
Or4d5 G A 9: 40,012,636 (GRCm39) T50I probably benign Het
Or4f52 C A 2: 111,061,834 (GRCm39) M101I probably benign Het
Pcdhb11 T A 18: 37,555,549 (GRCm39) I293K probably damaging Het
Pcsk5 G T 19: 17,432,138 (GRCm39) H1492Q probably benign Het
Pdcd4 T A 19: 53,899,405 (GRCm39) Y131* probably null Het
Pdf T A 8: 107,773,796 (GRCm39) M216L probably damaging Het
Pira13 A T 7: 3,828,188 (GRCm39) S40T Het
Plch1 T C 3: 63,778,106 (GRCm39) H17R possibly damaging Het
Prkdc T G 16: 15,626,068 (GRCm39) S3365A probably benign Het
Rab3c T C 13: 110,397,135 (GRCm39) T44A probably damaging Het
Rad17 T C 13: 100,765,998 (GRCm39) T377A probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf215 T G 11: 4,085,959 (GRCm39) probably null Het
Sec31b G A 19: 44,507,620 (GRCm39) T808I probably benign Het
Selenbp1 A T 3: 94,844,601 (GRCm39) D86V probably damaging Het
Smurf2 G T 11: 106,743,322 (GRCm39) Y241* probably null Het
Spint1 T C 2: 119,079,286 (GRCm39) V456A possibly damaging Het
Spmap2 G T 10: 79,419,581 (GRCm39) N240K possibly damaging Het
Stx5a A T 19: 8,725,924 (GRCm39) I175F probably damaging Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Thrb A G 14: 17,963,082 (GRCm38) D15G probably benign Het
Tln2 T C 9: 67,165,555 (GRCm39) K1045R probably damaging Het
Tmx2 T C 2: 84,505,745 (GRCm39) probably benign Het
Trabd T C 15: 88,969,152 (GRCm39) I192T probably damaging Het
Try5 T A 6: 41,288,637 (GRCm39) D194V probably damaging Het
Ttc21a A G 9: 119,796,371 (GRCm39) N1263S probably benign Het
Ttll13 T C 7: 79,902,923 (GRCm39) I197T probably damaging Het
Virma T C 4: 11,540,643 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- ACACTCATCTGTGGGGATGC -3'
(R):5'- CCTCAGGCATCTACTCATGTG -3'

Sequencing Primer
(F):5'- CATCTGTGGGGATGCACACTG -3'
(R):5'- AGGCATCTACTCATGTGTCATTTTG -3'
Posted On 2021-03-08