Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02434:Tfb2m'

293231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tfb2m

Ensembl Gene

ENSMUSG00000026492

Gene Name

transcription factor B2, mitochondrial

Synonyms

Hkp1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

IGL02434

Quality Score

Status

Chromosome

Chromosomal Location

179355620-179373832 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 179359700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027769 (fasta)

Gene Model

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

AlphaFold

Q3TL26

Predicted Effect

probably benign
Transcript: ENSMUST00000027769

SMART Domains

Protein: ENSMUSP00000027769
Gene: ENSMUSG00000026492

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150778

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	C	A	15: 72,992,930 (GRCm39)	G525V	probably damaging	Het
Agxt2	T	C	15: 10,358,686 (GRCm39)	S2P	possibly damaging	Het
Atg2b	C	T	12: 105,605,466 (GRCm39)	V339I	probably benign	Het
Btc	T	A	5: 91,510,186 (GRCm39)	I136F	probably damaging	Het
Cemip	A	T	7: 83,604,492 (GRCm39)	M850K	probably damaging	Het
Cfap54	T	A	10: 92,902,616 (GRCm39)	T179S	probably benign	Het
Chd7	T	C	4: 8,752,145 (GRCm39)	L214P	probably benign	Het
Garnl3	T	A	2: 32,944,217 (GRCm39)	N114I	probably damaging	Het
Gm10010	G	T	6: 128,177,433 (GRCm39)		noncoding transcript	Het
Gstcd	A	G	3: 132,701,963 (GRCm39)		probably benign	Het
Htr2b	A	G	1: 86,038,492 (GRCm39)	V38A	probably benign	Het
Hyal4	G	A	6: 24,763,857 (GRCm39)	W339*	probably null	Het
Ifnb1	A	G	4: 88,440,755 (GRCm39)	V86A	probably damaging	Het
Itpr1	A	G	6: 108,466,883 (GRCm39)		probably null	Het
Jag1	T	C	2: 136,929,075 (GRCm39)	S794G	probably benign	Het
Kdm5c	T	A	X: 151,016,558 (GRCm39)	M1K	probably null	Het
Lct	A	G	1: 128,231,527 (GRCm39)	V774A	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Med14	A	T	X: 12,612,063 (GRCm39)	D371E	possibly damaging	Het
Nrcam	A	G	12: 44,637,026 (GRCm39)		probably benign	Het
Or14j10	T	A	17: 37,935,467 (GRCm39)	N20Y	possibly damaging	Het
Or52e18	A	T	7: 104,609,279 (GRCm39)	M220K	probably benign	Het
Or52e18	A	T	7: 104,609,281 (GRCm39)	Y219*	probably null	Het
Pitpnm1	C	T	19: 4,153,377 (GRCm39)	R178W	probably benign	Het
Prb1b	T	A	6: 132,289,339 (GRCm39)	R162W	unknown	Het
Prkcg	A	G	7: 3,367,406 (GRCm39)	I324V	probably benign	Het
Prr30	A	T	14: 101,435,804 (GRCm39)	C253S	possibly damaging	Het
Ptgis	A	T	2: 167,082,262 (GRCm39)		probably null	Het
Rab11fip3	C	T	17: 26,287,809 (GRCm39)	A115T	possibly damaging	Het
Reps2	C	T	X: 161,309,253 (GRCm39)		probably null	Het
Rev3l	A	G	10: 39,698,587 (GRCm39)	D1028G	probably damaging	Het
Rsbn1l	T	C	5: 21,124,732 (GRCm39)	R357G	probably damaging	Het
Scn5a	A	G	9: 119,362,859 (GRCm39)	L587P	possibly damaging	Het
Tanc2	C	T	11: 105,670,868 (GRCm39)	T155I	probably benign	Het
Tfpi	A	G	2: 84,282,892 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,636,191 (GRCm39)	S593P	probably damaging	Het
Unc13c	T	C	9: 73,839,910 (GRCm39)	S314G	probably benign	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
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
R0762:Tfb2m	UTSW	1	179,373,398 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16