Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00805:T'

14340

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000062327

Gene Name

brachyury, T-box transcription factor T

Synonyms

Tbxt, Bra, T1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL00805

Quality Score

Status

Chromosome

Chromosomal Location

8653255-8661328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8655997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 86 (D86E)

Ref Sequence

ENSEMBL: ENSMUSP00000135526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074667] [ENSMUST00000136922] [ENSMUST00000177118]

AlphaFold

P20293

Predicted Effect

probably benign
Transcript: ENSMUST00000074667
AA Change: D228E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074236
Gene: ENSMUSG00000062327
AA Change: D228E

Domain	Start	End	E-Value	Type
TBOX	41	224	5.53e-120	SMART
low complexity region	391	400	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136922

SMART Domains

Protein: ENSMUSP00000119581
Gene: ENSMUSG00000062327

Domain	Start	End	E-Value	Type
TBOX	1	137	3.02e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177118
AA Change: D86E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000135526
Gene: ENSMUSG00000062327
AA Change: D86E

Domain	Start	End	E-Value	Type
TBOX	1	82	3.3e-7	SMART

Coding Region Coverage

Validation Efficiency

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 an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mice die during embryonice development. Heterozygous mice have skeletal abnormalities. On specific genetic backgrounds, some alleles cause partial or complete sex-reversal of chromosomally XY mice. [provided by MGI curators]

Allele List at MGI

All alleles(40) : Targeted, other(2) Transgenic(1) Spontaneous(17) Chemically induced(10) Radiation induced(15)

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,270,422 (GRCm39)	V93E	probably damaging	Het
Ampd3	A	G	7: 110,409,072 (GRCm39)	I704V	possibly damaging	Het
Apcdd1	T	A	18: 63,066,936 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 65,772,521 (GRCm39)	Y3737C	probably benign	Het
Ercc4	G	T	16: 12,939,868 (GRCm39)	V43L	possibly damaging	Het
Jam2	T	C	16: 84,612,054 (GRCm39)		probably benign	Het
Mrpl3	T	A	9: 104,941,305 (GRCm39)	V204E	probably damaging	Het
Ptpn13	T	A	5: 103,702,595 (GRCm39)	M1187K	probably benign	Het
Sis	C	A	3: 72,841,532 (GRCm39)	R761I	probably benign	Het
Sos1	A	G	17: 80,705,953 (GRCm39)	V1206A	possibly damaging	Het
Stxbp3	A	T	3: 108,723,667 (GRCm39)	D189E	probably benign	Het
Tek	A	T	4: 94,686,956 (GRCm39)	N158I	probably damaging	Het

Other mutations in T

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:T	APN	17	8,660,577 (GRCm39)	splice site	probably null
IGL02343:T	APN	17	8,658,732 (GRCm39)	splice site	probably benign
IGL02626:T	APN	17	8,654,069 (GRCm39)	missense	probably damaging	0.99
IGL02628:T	APN	17	8,654,190 (GRCm39)	missense	probably damaging	1.00
IGL02970:T	APN	17	8,654,217 (GRCm39)	missense	probably damaging	0.97
I2289:T	UTSW	17	8,657,474 (GRCm39)	missense	probably benign
R0097:T	UTSW	17	8,658,733 (GRCm39)	splice site	probably benign
R0097:T	UTSW	17	8,658,733 (GRCm39)	splice site	probably benign
R1164:T	UTSW	17	8,658,771 (GRCm39)	missense	probably benign	0.00
R1993:T	UTSW	17	8,660,634 (GRCm39)	missense	probably benign	0.00
R5148:T	UTSW	17	8,655,037 (GRCm39)	missense	probably damaging	1.00
R5423:T	UTSW	17	8,660,597 (GRCm39)	missense	probably damaging	1.00
R5710:T	UTSW	17	8,660,474 (GRCm39)	missense	probably benign	0.00
R6160:T	UTSW	17	8,660,618 (GRCm39)	missense	probably benign	0.00
R6196:T	UTSW	17	8,655,996 (GRCm39)	missense	possibly damaging	0.73
R6447:T	UTSW	17	8,660,463 (GRCm39)	missense	possibly damaging	0.50
R8294:T	UTSW	17	8,653,364 (GRCm39)	start codon destroyed	probably null	0.25
R8813:T	UTSW	17	8,653,532 (GRCm39)	missense	probably benign	0.08
R9802:T	UTSW	17	8,654,988 (GRCm39)	missense	probably damaging	0.99
RF010:T	UTSW	17	8,660,540 (GRCm39)	missense	probably benign

Posted On

2012-12-06