Mutagenetix > Incidental Mutation

Incidental Mutation 'R8174:Tfb1m'

634252

Institutional Source

Beutler Lab

Gene Symbol

Tfb1m

Ensembl Gene

ENSMUSG00000036983

Gene Name

transcription factor B1, mitochondrial

Synonyms

MMRRC Submission

067599-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3569531-3608056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3569855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 337 (D337G)

Ref Sequence

ENSEMBL: ENSMUSP00000035291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041003] [ENSMUST00000072156] [ENSMUST00000169838]

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: D337G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983
AA Change: D337G

Domain	Start	End	E-Value	Type
rADc	43	234	5.56e-69	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000072156

SMART Domains

Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (40/40)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,378,617 (GRCm39)	N2090S	possibly damaging	Het
Asxl3	T	C	18: 22,650,800 (GRCm39)	S930P	probably benign	Het
Cachd1	T	A	4: 100,823,466 (GRCm39)	I506N	probably damaging	Het
Calm1	G	T	12: 100,171,967 (GRCm39)	V140L	probably benign	Het
Cdsn	A	T	17: 35,866,529 (GRCm39)	K353*	probably null	Het
Cldn11	T	C	3: 31,208,210 (GRCm39)	V125A	probably benign	Het
Ddx60	G	A	8: 62,470,284 (GRCm39)		probably null	Het
Dlg2	A	G	7: 91,589,248 (GRCm39)	I216V	probably benign	Het
Dnah5	A	G	15: 28,311,279 (GRCm39)		probably null	Het
Dnajc28	G	A	16: 91,413,795 (GRCm39)	R150*	probably null	Het
Erap1	A	T	13: 74,794,683 (GRCm39)	Y114F	probably benign	Het
Gm14443	G	A	2: 175,011,468 (GRCm39)	P326L	probably damaging	Het
Gm2042	T	A	12: 87,926,928 (GRCm39)	L415Q	probably damaging	Het
Gm8797	T	C	3: 5,816,094 (GRCm39)	I44T	probably benign	Het
Matn2	C	A	15: 34,422,555 (GRCm39)	F547L	probably benign	Het
Mpc2	T	A	1: 165,308,458 (GRCm39)		probably null	Het
Or5b12b	A	G	19: 12,861,268 (GRCm39)	T8A	probably benign	Het
Or7d10	A	C	9: 19,832,020 (GRCm39)	T172P	probably damaging	Het
Pcnx4	T	A	12: 72,603,687 (GRCm39)	L536Q	probably damaging	Het
Phlpp2	G	A	8: 110,595,321 (GRCm39)	R24H	unknown	Het
Pkmyt1	A	T	17: 23,952,813 (GRCm39)	D123V	probably damaging	Het
Polg	A	T	7: 79,106,466 (GRCm39)	M668K	probably benign	Het
Ppp1r12a	G	T	10: 108,107,598 (GRCm39)	A974S	probably benign	Het
Ppp2r3d	T	C	9: 101,090,501 (GRCm39)		probably benign	Het
Rabl3	T	C	16: 37,377,225 (GRCm39)	Y61H	probably damaging	Het
Rap2a	T	A	14: 120,716,269 (GRCm39)	I44N	probably damaging	Het
Rev3l	T	C	10: 39,735,111 (GRCm39)	V2779A	probably damaging	Het
Rnf43	G	T	11: 87,622,057 (GRCm39)	R259L	probably benign	Het
Rspry1	T	A	8: 95,376,450 (GRCm39)	L448Q	probably damaging	Het
Slc43a2	T	G	11: 75,434,193 (GRCm39)		probably null	Het
Slc6a5	A	G	7: 49,598,057 (GRCm39)	I640M	probably benign	Het
Sp140l1	T	G	1: 85,077,261 (GRCm39)	S102R	probably damaging	Het
Srrm2	C	T	17: 24,034,297 (GRCm39)	P314S	unknown	Het
Strn4	C	T	7: 16,562,733 (GRCm39)	R291C	probably damaging	Het
Syt4	T	A	18: 31,577,230 (GRCm39)	R41S	probably benign	Het
Togaram1	G	T	12: 65,029,465 (GRCm39)	D963Y	possibly damaging	Het
Tpsg1	T	C	17: 25,591,564 (GRCm39)	C55R	probably damaging	Het
Tram1l1	A	G	3: 124,115,911 (GRCm39)	K357R	probably benign	Het
Veph1	A	G	3: 66,171,316 (GRCm39)	I42T	probably damaging	Het
Vps13b	C	G	15: 35,709,456 (GRCm39)	S1801*	probably null	Het
Zcwpw1	G	A	5: 137,817,839 (GRCm39)		probably null	Het
Zfp266	G	A	9: 20,418,110 (GRCm39)		probably benign	Het
Zmym5	T	A	14: 57,031,918 (GRCm39)	R397*	probably null	Het

Other mutations in Tfb1m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8739:Tfb1m	UTSW	17	3,569,927 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTTGCACTGTATCTACTTGG -3'
(R):5'- TGTTATTCCCTGAAGCACAACGC -3'

Sequencing Primer
(F):5'- GGTATTTCTTTTCTTACCAAGCTGG -3'
(R):5'- AGCACTGGAAGGCTGTTAC -3'

Posted On

2020-07-13