Incidental Mutation 'R4076:Tfb1m'
ID 316582
Institutional Source Beutler Lab
Gene Symbol Tfb1m
Ensembl Gene ENSMUSG00000036983
Gene Name transcription factor B1, mitochondrial
Synonyms
MMRRC Submission 040975-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4076 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 3569531-3608056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3571945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 257 (R257W)
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 damaging
Transcript: ENSMUST00000041003
AA Change: R257W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983
AA Change: R257W

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 noncoding transcript
Transcript: ENSMUST00000226913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226997
Predicted Effect probably benign
Transcript: ENSMUST00000227405
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Anxa5 T C 3: 36,504,529 (GRCm39) I277V probably benign Het
Atg12 A G 18: 46,870,491 (GRCm39) F92L probably benign Het
Cd48 T A 1: 171,523,451 (GRCm39) V98D probably damaging Het
Dnah11 A G 12: 118,009,413 (GRCm39) M2083T probably benign Het
Dnah9 T C 11: 65,975,730 (GRCm39) T1440A probably benign Het
Dnali1 T C 4: 124,953,263 (GRCm39) D188G probably damaging Het
Dst A G 1: 34,231,350 (GRCm39) E2656G probably benign Het
Eps15l1 A G 8: 73,134,128 (GRCm39) I482T probably damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Eva1c T A 16: 90,701,019 (GRCm39) F331Y probably damaging Het
Fcho1 T C 8: 72,163,013 (GRCm39) H672R probably damaging Het
Fras1 G C 5: 96,891,017 (GRCm39) D2849H probably damaging Het
Hdc C T 2: 126,458,181 (GRCm39) R47Q possibly damaging Het
Ighv1-30 C T 12: 114,781,021 (GRCm39) noncoding transcript Het
Krtap31-1 T C 11: 99,799,058 (GRCm39) I87T possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Ltb4r2 A T 14: 56,000,398 (GRCm39) R340W probably benign Het
Map10 T C 8: 126,398,584 (GRCm39) V659A probably benign Het
Nars2 T A 7: 96,607,301 (GRCm39) S91T probably damaging Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Osgin1 A C 8: 120,171,772 (GRCm39) S189R possibly damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Pik3c2g A T 6: 139,798,589 (GRCm39) N373I probably damaging Het
Pou2f2 T C 7: 24,796,713 (GRCm39) T270A probably damaging Het
Rad51b T G 12: 79,361,656 (GRCm39) S122R probably damaging Het
Rev1 T G 1: 38,093,319 (GRCm39) K1075T possibly damaging Het
Rrbp1 T G 2: 143,805,030 (GRCm39) Q1045P probably benign Het
Scg2 A C 1: 79,414,574 (GRCm39) F50V probably damaging Het
Slco1a5 A T 6: 142,213,950 (GRCm39) I57K possibly damaging Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Zfp608 A T 18: 55,031,180 (GRCm39) V920E probably damaging 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
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'- ACCTTTCTAGCAACAAGTCAGC -3'
(R):5'- ATGCAAGAAGCCCTCGATTTG -3'

Sequencing Primer
(F):5'- GTCAGCAAAAACTTTAGACTTGTGGG -3'
(R):5'- TGCTCTTCCAAAGGTCCAGAG -3'
Posted On 2015-05-15