Mutagenetix > Incidental Mutation

Incidental Mutation 'R1164:T'

100865

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000062327

Gene Name

brachyury, T-box transcription factor T

Synonyms

Tbxt, Bra, T1

MMRRC Submission

039237-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8653255-8661328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8658771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 171 (S171P)

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: S312P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074236
Gene: ENSMUSG00000062327
AA Change: S312P

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: S171P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000135526
Gene: ENSMUSG00000062327
AA Change: S171P

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,621,305 (GRCm39)	M1055K	probably damaging	Het
Adprh	A	T	16: 38,270,702 (GRCm39)	D34E	probably benign	Het
Aldh1a1	A	T	19: 20,595,310 (GRCm39)	M80L	probably benign	Het
Arap2	T	A	5: 62,840,820 (GRCm39)	D682V	probably damaging	Het
Atp4a	T	A	7: 30,417,117 (GRCm39)	L500Q	probably benign	Het
Atp6v1c2	T	C	12: 17,358,317 (GRCm39)	E10G	probably damaging	Het
B4galt2	G	A	4: 117,734,141 (GRCm39)	R299W	possibly damaging	Het
Bltp3a	T	C	17: 28,114,354 (GRCm39)		probably null	Het
Brinp1	A	C	4: 68,716,928 (GRCm39)	S307A	probably benign	Het
Cacna2d1	G	A	5: 16,566,874 (GRCm39)		probably null	Het
Ccdc3	T	C	2: 5,146,077 (GRCm39)	V137A	possibly damaging	Het
Ccnb1ip1	T	C	14: 51,029,594 (GRCm39)	K156R	possibly damaging	Het
Cfap77	A	T	2: 28,852,700 (GRCm39)	W191R	probably damaging	Het
Chga	A	G	12: 102,529,304 (GRCm39)	E427G	probably damaging	Het
Chrnd	A	T	1: 87,120,267 (GRCm39)	Y32F	probably benign	Het
Cks1b	C	A	3: 89,323,249 (GRCm39)		probably benign	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dip2a	C	A	10: 76,112,231 (GRCm39)	R1098L	possibly damaging	Het
Dmbx1	T	A	4: 115,775,455 (GRCm39)	H275L	probably damaging	Het
Dmrt2	A	G	19: 25,655,357 (GRCm39)	M319V	possibly damaging	Het
Dock8	A	G	19: 25,067,391 (GRCm39)	Y345C	probably benign	Het
Dpp6	A	G	5: 27,926,103 (GRCm39)	T668A	probably benign	Het
Eef1d	A	G	15: 75,774,526 (GRCm39)		probably null	Het
Epb41l3	A	G	17: 69,581,762 (GRCm39)	T568A	possibly damaging	Het
Erc2	A	G	14: 28,024,929 (GRCm39)	R603G	probably damaging	Het
Fam83d	T	C	2: 158,625,170 (GRCm39)	S254P	probably damaging	Het
Fcgr4	A	T	1: 170,856,739 (GRCm39)	H202L	possibly damaging	Het
Gm4922	C	T	10: 18,659,469 (GRCm39)	A418T	possibly damaging	Het
Kmo	A	G	1: 175,486,125 (GRCm39)	H416R	probably benign	Het
Lao1	A	G	4: 118,822,602 (GRCm39)	N174S	probably benign	Het
Lrwd1	A	T	5: 136,159,844 (GRCm39)	H406Q	probably benign	Het
Magoh	A	G	4: 107,744,459 (GRCm39)	I143V	probably benign	Het
Mpz	A	G	1: 170,986,008 (GRCm39)	H49R	possibly damaging	Het
Nav1	T	C	1: 135,400,148 (GRCm39)	N474S	probably benign	Het
Ndufb10	T	G	17: 24,941,757 (GRCm39)	E68D	probably benign	Het
Obscn	T	C	11: 58,926,913 (GRCm39)	D5534G	possibly damaging	Het
Or13c7d	T	C	4: 43,770,991 (GRCm39)	T7A	probably benign	Het
Or14j5	T	A	17: 38,161,575 (GRCm39)	F31I	probably damaging	Het
Or1j16	A	T	2: 36,530,132 (GRCm39)	Y27F	probably benign	Het
Or4d10	A	T	19: 12,051,605 (GRCm39)	Y130*	probably null	Het
Or52l1	A	T	7: 104,830,040 (GRCm39)	F160Y	probably benign	Het
Or8k30	C	A	2: 86,339,028 (GRCm39)	T75K	probably damaging	Het
Padi1	A	T	4: 140,559,640 (GRCm39)	V79E	possibly damaging	Het
Pdha2	A	G	3: 140,917,260 (GRCm39)	Y83H	probably damaging	Het
Phpt1	A	G	2: 25,464,727 (GRCm39)	I42T	probably damaging	Het
Pot1b	A	C	17: 55,981,085 (GRCm39)	S310A	probably benign	Het
Ptpn13	G	A	5: 103,637,639 (GRCm39)	V176I	probably damaging	Het
Ptprf	A	G	4: 118,114,689 (GRCm39)	S189P	probably damaging	Het
Rere	A	T	4: 150,619,341 (GRCm39)	Q381L	unknown	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Scn8a	G	A	15: 100,938,043 (GRCm39)	C1804Y	probably benign	Het
Sema3c	G	A	5: 17,883,312 (GRCm39)	D307N	probably benign	Het
Siah2	T	C	3: 58,583,737 (GRCm39)	E183G	probably benign	Het
Smarca5	G	A	8: 81,437,260 (GRCm39)	L699F	probably damaging	Het
Smo	T	A	6: 29,754,718 (GRCm39)	S263T	probably benign	Het
Sox2	A	G	3: 34,704,848 (GRCm39)	E95G	probably damaging	Het
Tmc7	G	T	7: 118,141,247 (GRCm39)	A628D	probably benign	Het
Tmem45a2	A	G	16: 56,869,789 (GRCm39)	S52P	probably damaging	Het
Tubb3	C	T	8: 124,148,186 (GRCm39)	A373V	probably damaging	Het
Upp2	A	G	2: 58,653,716 (GRCm39)	Y69C	probably damaging	Het
Utp4	A	G	8: 107,627,476 (GRCm39)		probably null	Het
Vmn1r59	T	A	7: 5,457,410 (GRCm39)	M117L	probably benign	Het
Xkr8	T	C	4: 132,459,722 (GRCm39)	S19G	probably benign	Het
Zbed6	G	A	1: 133,586,941 (GRCm39)	T132I	probably damaging	Het
Zbtb24	T	C	10: 41,340,523 (GRCm39)	Y518H	probably damaging	Het
Zfp324	T	C	7: 12,705,551 (GRCm39)	I580T	probably benign	Het
Zfp995	G	A	17: 22,098,960 (GRCm39)	H425Y	probably damaging	Het

Other mutations in T

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00805:T	APN	17	8,655,997 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

Posted On

2014-01-15