Mutagenetix > Incidental Mutation

Incidental Mutation 'R8286:Tfb2m'

638444

Institutional Source

Beutler Lab

Gene Symbol

Tfb2m

Ensembl Gene

ENSMUSG00000026492

Gene Name

transcription factor B2, mitochondrial

Synonyms

Hkp1

MMRRC Submission

067708-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R8286 (G1)

Quality Score

181.009

Status

Not validated

Chromosome

Chromosomal Location

179355620-179373832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 179356770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 388 (D388G)

Ref Sequence

ENSEMBL: ENSMUSP00000027769 (fasta)

Gene Model

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

AlphaFold

Q3TL26

Predicted Effect

probably damaging
Transcript: ENSMUST00000027769
AA Change: D388G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027769
Gene: ENSMUSG00000026492
AA Change: D388G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	T	5: 8,914,119 (GRCm39)	Y1163F	probably damaging	Het
Abcd4	A	G	12: 84,649,920 (GRCm39)	V589A	probably benign	Het
Adam26b	T	A	8: 43,972,998 (GRCm39)	N668I	probably benign	Het
Atp2b2	T	C	6: 113,819,275 (GRCm39)	N6S	possibly damaging	Het
Cacna2d2	A	G	9: 107,392,063 (GRCm39)	Y468C	probably damaging	Het
Cngb1	A	T	8: 96,002,252 (GRCm39)	V52D		Het
Cped1	A	T	6: 22,254,601 (GRCm39)	Y998F	probably benign	Het
Csmd1	A	G	8: 16,039,188 (GRCm39)	V2390A	probably benign	Het
Ctsj	A	T	13: 61,148,330 (GRCm39)	C321*	probably null	Het
Dip2a	A	C	10: 76,122,297 (GRCm39)	I139S	probably benign	Het
Dnaaf9	T	C	2: 130,559,248 (GRCm39)	I937V	probably damaging	Het
Eif1	A	G	11: 100,210,795 (GRCm39)		probably benign	Het
Exoc1	T	C	5: 76,711,087 (GRCm39)	I662T	probably benign	Het
Flt4	A	G	11: 49,528,089 (GRCm39)	R971G	probably benign	Het
Hecw2	T	C	1: 53,879,928 (GRCm39)	T1294A	probably damaging	Het
Herc2	T	G	7: 55,879,410 (GRCm39)	V4676G	possibly damaging	Het
Hif1a	A	G	12: 73,992,022 (GRCm39)		probably benign	Het
Icam5	C	A	9: 20,946,822 (GRCm39)	A450E	possibly damaging	Het
Map3k21	T	A	8: 126,637,498 (GRCm39)	M28K	probably benign	Het
Mars1	C	A	10: 127,141,348 (GRCm39)	R347L	probably benign	Het
Mctp1	A	T	13: 76,905,174 (GRCm39)	I426F	probably benign	Het
Mdn1	T	C	4: 32,731,960 (GRCm39)	S3007P	possibly damaging	Het
Mical3	T	C	6: 120,998,149 (GRCm39)	R65G	possibly damaging	Het
Ncald	G	T	15: 37,397,505 (GRCm39)	Y58*	probably null	Het
Neil2	A	T	14: 63,426,154 (GRCm39)	I72K	probably benign	Het
Or8b35	C	A	9: 37,904,401 (GRCm39)	Y204*	probably null	Het
Or8k23	A	G	2: 86,186,691 (GRCm39)	F12L	probably damaging	Het
Pan2	A	G	10: 128,154,189 (GRCm39)	D1086G	probably damaging	Het
Plxnb1	A	G	9: 108,935,870 (GRCm39)	T1087A	probably damaging	Het
Prpf39	A	G	12: 65,103,132 (GRCm39)	M469V	probably benign	Het
Ptprk	A	T	10: 28,444,323 (GRCm39)	S905C	probably damaging	Het
Rassf5	T	C	1: 131,140,067 (GRCm39)	D164G	possibly damaging	Het
Setd1a	T	C	7: 127,385,356 (GRCm39)	W688R	possibly damaging	Het
Sfswap	C	T	5: 129,616,783 (GRCm39)	T409I	probably damaging	Het
Slc50a1	G	A	3: 89,177,710 (GRCm39)		probably null	Het
Slfn9	G	C	11: 82,872,095 (GRCm39)	N880K	probably damaging	Het
Sprr1b	T	C	3: 92,344,720 (GRCm39)	K52R	probably benign	Het
Tmem234	T	C	4: 129,500,881 (GRCm39)		probably benign	Het
Traj43	A	G	14: 54,412,201 (GRCm39)	N1D		Het
Trmt1l	T	A	1: 151,333,543 (GRCm39)	I682N	probably damaging	Het
Trp53rka	T	C	2: 165,333,445 (GRCm39)	D148G	probably damaging	Het
Vmn2r86	A	G	10: 130,285,855 (GRCm39)	V440A	probably benign	Het
Vxn	C	T	1: 9,683,613 (GRCm39)	T67I	probably benign	Het
Wdfy3	C	T	5: 102,085,287 (GRCm39)	V736I	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
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
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
R8337:Tfb2m	UTSW	1	179,369,914 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGCCACTGTGTTTTCTG -3'
(R):5'- AGCTGACAGTTGTAAAAGTGTGTC -3'

Sequencing Primer
(F):5'- CCACTGTGTTTTCTGTGTATCAAAG -3'
(R):5'- ACAGTTGTAAAAGTGTGTCTCTTTG -3'

Posted On

2020-07-28