Mutagenetix > Incidental Mutation

Incidental Mutation 'R0762:Tfb2m'

72434

Institutional Source

Beutler Lab

Gene Symbol

Tfb2m

Ensembl Gene

ENSMUSG00000026492

Gene Name

transcription factor B2, mitochondrial

Synonyms

Hkp1

MMRRC Submission

038942-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R0762 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179355620-179373832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 179373398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 100 (E100G)

Ref Sequence

ENSEMBL: ENSMUSP00000027769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027769] [ENSMUST00000040706]

AlphaFold

Q3TL26

Predicted Effect

probably damaging
Transcript: ENSMUST00000027769
AA Change: E100G

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

SMART Domains

Protein: ENSMUSP00000027769
Gene: ENSMUSG00000026492
AA Change: E100G

Domain	Start	End	E-Value	Type
Pfam:RrnaAD	79	377	6.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040706

SMART Domains

Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949

Domain	Start	End	E-Value	Type
low complexity region	109	126	N/A	INTRINSIC
low complexity region	142	150	N/A	INTRINSIC
low complexity region	555	566	N/A	INTRINSIC
Pfam:Consortin_C	598	709	3.4e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153962

Meta Mutation Damage Score

0.7220

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.2%
20x: 93.9%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,482,667 (GRCm39)	N475I	probably damaging	Het
Adar	T	C	3: 89,647,290 (GRCm39)		probably benign	Het
Aldh3b3	A	T	19: 4,015,747 (GRCm39)		probably null	Het
Amtn	C	T	5: 88,532,859 (GRCm39)	T158I	possibly damaging	Het
Ap1g2	A	G	14: 55,337,868 (GRCm39)		probably benign	Het
Arhgef3	A	G	14: 27,119,584 (GRCm39)	Y318C	probably damaging	Het
Atg2b	A	C	12: 105,641,229 (GRCm39)	V69G	possibly damaging	Het
Bbx	G	A	16: 50,045,529 (GRCm39)	T236I	possibly damaging	Het
Bcl11b	C	T	12: 107,931,922 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,889,377 (GRCm39)	I794V	probably benign	Het
Ccdc88a	C	T	11: 29,413,112 (GRCm39)		probably benign	Het
Cdhr3	C	A	12: 33,110,300 (GRCm39)	R328L	probably benign	Het
Ces2e	T	A	8: 105,656,496 (GRCm39)	M242K	probably damaging	Het
Col12a1	A	G	9: 79,588,656 (GRCm39)		probably benign	Het
Col3a1	T	C	1: 45,360,686 (GRCm39)	S39P	unknown	Het
Cplane1	A	G	15: 8,247,900 (GRCm39)		probably benign	Het
Cyp2a5	T	A	7: 26,538,298 (GRCm39)	Y220*	probably null	Het
Dcc	T	A	18: 71,475,776 (GRCm39)		probably benign	Het
Dnajb8	A	G	6: 88,200,036 (GRCm39)	T191A	probably damaging	Het
Ephx2	A	T	14: 66,339,628 (GRCm39)	F199I	probably damaging	Het
Fancd2	A	G	6: 113,551,619 (GRCm39)	K1062E	probably benign	Het
Fbxo33	A	G	12: 59,251,285 (GRCm39)	V410A	probably benign	Het
Gars1	T	G	6: 55,054,565 (GRCm39)		probably null	Het
Git1	A	C	11: 77,390,660 (GRCm39)	D132A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gucy1a1	T	C	3: 82,002,203 (GRCm39)	T44A	unknown	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Ifnlr1	A	G	4: 135,428,640 (GRCm39)	K156E	possibly damaging	Het
Klf13	T	C	7: 63,541,371 (GRCm39)	N15S	probably benign	Het
Krt77	T	C	15: 101,769,561 (GRCm39)		probably null	Het
Ldc1	A	G	4: 130,115,417 (GRCm39)	S44P	probably damaging	Het
Map4	C	A	9: 109,867,546 (GRCm39)		probably benign	Het
Mthfr	T	C	4: 148,139,900 (GRCm39)	I623T	possibly damaging	Het
Myo7b	T	A	18: 32,116,997 (GRCm39)	T908S	probably benign	Het
Nbeal2	T	G	9: 110,472,876 (GRCm39)		probably benign	Het
Nwd2	T	G	5: 63,957,757 (GRCm39)	F362L	probably benign	Het
Pcm1	A	T	8: 41,714,057 (GRCm39)	R208W	probably damaging	Het
Pkd2l1	T	C	19: 44,138,909 (GRCm39)	D647G	probably benign	Het
Plbd1	C	T	6: 136,618,145 (GRCm39)	V24M	probably damaging	Het
Polr2a	G	A	11: 69,625,943 (GRCm39)	P1698S	unknown	Het
Prss12	T	C	3: 123,279,153 (GRCm39)	I410T	probably damaging	Het
Ptpre	A	G	7: 135,280,964 (GRCm39)	N565S	probably damaging	Het
Rab44	T	C	17: 29,364,244 (GRCm39)	L606P	unknown	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Rhd	C	T	4: 134,603,612 (GRCm39)		probably benign	Het
Rspo3	T	A	10: 29,375,917 (GRCm39)		probably benign	Het
Sdccag8	T	A	1: 176,773,710 (GRCm39)	N555K	probably benign	Het
Skint6	T	A	4: 112,722,848 (GRCm39)		probably benign	Het
Slc22a20	G	A	19: 6,036,036 (GRCm39)	P45S	probably damaging	Het
Slc5a2	A	G	7: 127,866,654 (GRCm39)	Y124C	probably damaging	Het
Spats2l	T	C	1: 57,925,043 (GRCm39)	L127P	possibly damaging	Het
Taar8a	T	A	10: 23,952,975 (GRCm39)	I193N	probably benign	Het
Ten1	C	T	11: 116,107,510 (GRCm39)		probably benign	Het
Tom1	C	T	8: 75,778,934 (GRCm39)		probably benign	Het
Vps52	G	T	17: 34,178,985 (GRCm39)	R171L	probably damaging	Het
Zcwpw2	A	T	9: 117,843,182 (GRCm39)		noncoding transcript	Het
Zfhx4	G	A	3: 5,468,880 (GRCm39)	E3013K	probably damaging	Het
Zfp267	G	A	3: 36,220,016 (GRCm39)	D680N	possibly damaging	Het
Zfp777	C	T	6: 48,006,294 (GRCm39)	V411M	probably damaging	Het

Other mutations in Tfb2m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01372:Tfb2m	APN	1	179,369,878 (GRCm39)	missense	probably damaging	1.00
IGL01415:Tfb2m	APN	1	179,359,695 (GRCm39)	splice site	probably benign
IGL01538:Tfb2m	APN	1	179,365,409 (GRCm39)	missense	possibly damaging	0.87
IGL01939:Tfb2m	APN	1	179,365,262 (GRCm39)	critical splice donor site	probably null
IGL02434:Tfb2m	APN	1	179,359,700 (GRCm39)	splice site	probably benign
IGL02795:Tfb2m	APN	1	179,373,524 (GRCm39)	missense	possibly damaging	0.88
R0267:Tfb2m	UTSW	1	179,361,203 (GRCm39)	missense	probably benign	0.10
R0504:Tfb2m	UTSW	1	179,373,396 (GRCm39)	missense	probably damaging	1.00
R0514:Tfb2m	UTSW	1	179,358,869 (GRCm39)	missense	probably benign	0.05
R0518:Tfb2m	UTSW	1	179,365,389 (GRCm39)	missense	possibly damaging	0.47
R1542:Tfb2m	UTSW	1	179,365,426 (GRCm39)	splice site	probably null
R1697:Tfb2m	UTSW	1	179,372,464 (GRCm39)	missense	probably null	1.00
R2421:Tfb2m	UTSW	1	179,361,231 (GRCm39)	missense	possibly damaging	0.56
R5384:Tfb2m	UTSW	1	179,373,437 (GRCm39)	splice site	probably null
R5583:Tfb2m	UTSW	1	179,373,446 (GRCm39)	missense	probably benign	0.16
R6522:Tfb2m	UTSW	1	179,373,611 (GRCm39)	missense	probably benign	0.45
R7425:Tfb2m	UTSW	1	179,365,269 (GRCm39)	missense	probably benign	0.08
R7480:Tfb2m	UTSW	1	179,356,747 (GRCm39)	missense	probably benign
R7846:Tfb2m	UTSW	1	179,358,926 (GRCm39)	missense	probably damaging	1.00
R8207:Tfb2m	UTSW	1	179,373,668 (GRCm39)	missense	probably benign	0.05
R8286:Tfb2m	UTSW	1	179,356,770 (GRCm39)	missense	probably damaging	1.00
R8337:Tfb2m	UTSW	1	179,369,914 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCGACTACCTCTTACTCACGGAC -3'
(R):5'- AGAGCCGTTGCCTGATTCTGATTTG -3'

Sequencing Primer
(F):5'- tcagagggcaatggcgg -3'
(R):5'- ATTTGGAGGAGTCGTCCCC -3'

Posted On

2013-09-30