Mutagenetix > Incidental Mutation

Incidental Mutation 'R1924:Tfb1m'

213311

Institutional Source

Beutler Lab

Gene Symbol

Tfb1m

Ensembl Gene

ENSMUSG00000036983

Gene Name

transcription factor B1, mitochondrial

Synonyms

MMRRC Submission

039942-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1924 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3569531-3608056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3569946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 307 (Y307N)

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: Y307N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983
AA Change: Y307N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226997

Predicted Effect

probably benign
Transcript: ENSMUST00000227405

Meta Mutation Damage Score

0.9407

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

94% (63/67)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	A	5: 114,368,781 (GRCm39)	M1666I	possibly damaging	Het
Adamts13	A	T	2: 26,874,153 (GRCm39)	Q434L	probably damaging	Het
Adgrg3	G	A	8: 95,762,562 (GRCm39)	R204H	probably benign	Het
Arhgef28	A	C	13: 98,073,324 (GRCm39)		probably benign	Het
AU041133	T	A	10: 81,987,101 (GRCm39)	C251*	probably null	Het
Axin2	T	A	11: 108,833,794 (GRCm39)	N580K	probably benign	Het
C4b	A	G	17: 34,948,631 (GRCm39)	C1560R	probably damaging	Het
Cacna1g	A	G	11: 94,334,880 (GRCm39)	I809T	possibly damaging	Het
Cacna1s	C	A	1: 136,016,755 (GRCm39)		probably null	Het
Cadps2	T	C	6: 23,688,857 (GRCm39)	S151G	probably damaging	Het
Capn1	T	C	19: 6,040,086 (GRCm39)		probably null	Het
Capn9	A	G	8: 125,302,965 (GRCm39)	S28G	probably benign	Het
Ccdc73	A	G	2: 104,822,637 (GRCm39)	D862G	probably damaging	Het
Cdk17	T	C	10: 93,061,979 (GRCm39)	L237P	probably damaging	Het
Cfap251	A	G	5: 123,440,802 (GRCm39)	I1120V	possibly damaging	Het
Chad	A	C	11: 94,456,384 (GRCm39)	N154T	possibly damaging	Het
Cog1	C	T	11: 113,547,038 (GRCm39)	T544I	probably benign	Het
Cracd	A	T	5: 77,006,470 (GRCm39)	T944S	unknown	Het
Ctnna2	T	C	6: 76,931,830 (GRCm39)	E590G	possibly damaging	Het
Dapk2	T	A	9: 66,072,642 (GRCm39)	M6K	probably benign	Het
Dchs1	T	C	7: 105,421,487 (GRCm39)	E311G	possibly damaging	Het
Ddr2	T	A	1: 169,809,641 (GRCm39)	T779S	probably benign	Het
Dhtkd1	A	G	2: 5,916,744 (GRCm39)	V644A	probably damaging	Het
Dock2	A	G	11: 34,414,934 (GRCm39)	V147A	possibly damaging	Het
Ear10	A	T	14: 44,160,357 (GRCm39)	*157K	probably null	Het
Gm10801	T	C	2: 98,494,197 (GRCm39)	I113T	probably damaging	Het
Gmps	T	G	3: 63,906,049 (GRCm39)	C449G	probably damaging	Het
Grin3a	A	G	4: 49,844,988 (GRCm39)	S32P	possibly damaging	Het
Igkv1-115	A	T	6: 68,138,592 (GRCm39)	D65V	probably damaging	Het
Klk1b4	A	G	7: 43,859,105 (GRCm39)	N41S	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrrc8a	T	A	2: 30,145,262 (GRCm39)	D25E	probably damaging	Het
Muc5b	A	G	7: 141,421,960 (GRCm39)	R4426G	possibly damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myo5a	G	T	9: 75,023,489 (GRCm39)	D17Y	probably damaging	Het
Nat1	C	G	8: 67,944,076 (GRCm39)	L154V	probably benign	Het
Nek3	T	A	8: 22,647,047 (GRCm39)	T163S	probably damaging	Het
Or2w25	G	T	11: 59,503,949 (GRCm39)	R53L	possibly damaging	Het
Or5p80	A	G	7: 108,229,562 (GRCm39)	D121G	probably damaging	Het
Or6c204	A	G	10: 129,023,044 (GRCm39)	I82T	possibly damaging	Het
Or8d2b	T	A	9: 38,789,147 (GRCm39)	I225N	probably damaging	Het
Or8g32	A	T	9: 39,305,163 (GRCm39)	E22D	possibly damaging	Het
Or9s13	T	C	1: 92,548,525 (GRCm39)	L299P	probably damaging	Het
Osr1	T	G	12: 9,629,268 (GRCm39)	L47R	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pik3ap1	T	A	19: 41,291,053 (GRCm39)	N493I	possibly damaging	Het
Polr3e	T	A	7: 120,539,820 (GRCm39)	N522K	probably damaging	Het
Rabgap1	T	A	2: 37,385,771 (GRCm39)		probably null	Het
Rp1l1	C	A	14: 64,268,992 (GRCm39)	A1526E	probably benign	Het
Scn3a	T	A	2: 65,291,878 (GRCm39)	I1623F	probably damaging	Het
Serpinb9e	A	G	13: 33,437,428 (GRCm39)	T104A	probably benign	Het
Sh3rf3	T	C	10: 58,939,989 (GRCm39)		probably benign	Het
Slc30a3	A	G	5: 31,245,748 (GRCm39)	Y213H	probably damaging	Het
Sptbn4	C	T	7: 27,106,563 (GRCm39)	R955H	probably damaging	Het
Tnrc6b	G	T	15: 80,768,407 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ulk1	A	G	5: 110,938,936 (GRCm39)	Y501H	probably damaging	Het
Zbtb17	A	G	4: 141,191,914 (GRCm39)	H315R	probably damaging	Het
Zeb2	A	G	2: 44,892,624 (GRCm39)	Y142H	probably damaging	Het
Zfr	T	C	15: 12,160,715 (GRCm39)	S763P	possibly damaging	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
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'- ATCTGTGGGGATGCACACTG -3'
(R):5'- GGCATCTACTCATGTGTCATTTTG -3'

Sequencing Primer
(F):5'- TGGGGATGCACACTGTCCAC -3'
(R):5'- CTCATGTGTCATTTTGAAGTTTGCAC -3'

Posted On

2014-07-14