Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Tbx3'

23946

Institutional Source

Beutler Lab

Gene Symbol

Tbx3

Ensembl Gene

ENSMUSG00000018604

Gene Name

T-box 3

Synonyms

D5Ertd189e

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

119670669-119684724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119675562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 221 (I221T)

Ref Sequence

ENSEMBL: ENSMUSP00000112519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018748] [ENSMUST00000079719] [ENSMUST00000121021]

AlphaFold

P70324

Predicted Effect

probably damaging
Transcript: ENSMUST00000018748
AA Change: I241T

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

SMART Domains

Protein: ENSMUSP00000018748
Gene: ENSMUSG00000018604
AA Change: I241T

Domain	Start	End	E-Value	Type
low complexity region	46	63	N/A	INTRINSIC
TBOX	102	310	6.4e-125	SMART
Pfam:TBX	323	411	8.8e-29	PFAM
low complexity region	492	510	N/A	INTRINSIC
low complexity region	524	538	N/A	INTRINSIC
low complexity region	556	576	N/A	INTRINSIC
low complexity region	607	620	N/A	INTRINSIC
low complexity region	662	710	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000079719
AA Change: I221T

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

SMART Domains

Protein: ENSMUSP00000078657
Gene: ENSMUSG00000018604
AA Change: I221T

Domain	Start	End	E-Value	Type
low complexity region	46	63	N/A	INTRINSIC
TBOX	102	290	1.01e-127	SMART
Pfam:TBX	303	391	6.5e-29	PFAM
low complexity region	472	490	N/A	INTRINSIC
low complexity region	504	518	N/A	INTRINSIC
low complexity region	536	556	N/A	INTRINSIC
low complexity region	587	600	N/A	INTRINSIC
low complexity region	642	690	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121021
AA Change: I221T

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

SMART Domains

Protein: ENSMUSP00000112519
Gene: ENSMUSG00000018604
AA Change: I221T

Domain	Start	End	E-Value	Type
low complexity region	46	63	N/A	INTRINSIC
TBOX	102	290	1.01e-127	SMART
Pfam:TBX	303	391	6.5e-29	PFAM
low complexity region	472	490	N/A	INTRINSIC
low complexity region	504	518	N/A	INTRINSIC
low complexity region	536	556	N/A	INTRINSIC
low complexity region	587	600	N/A	INTRINSIC
low complexity region	642	690	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202034

Meta Mutation Damage Score

0.9030

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die are embryonic lethal exhibiting defects in the yolk sac and limb defects. Female embryos show impaired mammary bud induction. Mice homozygous for hypomorphic alleles exhibit varying degrees of prenatal lethality and premature death, heart defects and limb abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,419,250 (GRCm38)	V131F	probably damaging	Het
Adam28	T	C	14: 68,637,373 (GRCm38)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,194,056 (GRCm38)	E36G	probably damaging	Het
Antxr2	A	G	5: 97,980,030 (GRCm38)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,617,673 (GRCm38)	D46E	unknown	Het
Armc9	T	C	1: 86,198,370 (GRCm38)	L61P	probably damaging	Het
Bicc1	C	A	10: 71,079,215 (GRCm38)	R73L	probably benign	Het
Calm2	T	C	17: 87,435,841 (GRCm38)	N43S	probably benign	Het
Cct7	A	G	6: 85,461,554 (GRCm38)	D105G	probably null	Het
Cdk18	T	C	1: 132,118,538 (GRCm38)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,395 (GRCm38)	T205A	probably benign	Het
Cfap57	A	T	4: 118,599,012 (GRCm38)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 26,187,007 (GRCm38)	C152*	probably null	Het
Dab2ip	G	A	2: 35,718,791 (GRCm38)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,683,683 (GRCm38)	V905A	probably benign	Het
Eif4h	C	A	5: 134,625,375 (GRCm38)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,299,216 (GRCm38)	S372T	probably benign	Het
Fat2	T	A	11: 55,296,288 (GRCm38)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,008,673 (GRCm38)	N443I	probably benign	Het
Git2	G	A	5: 114,739,037 (GRCm38)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,845,258 (GRCm38)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,967,614 (GRCm38)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,909,969 (GRCm38)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,718,931 (GRCm38)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,953,771 (GRCm38)		probably null	Het
Iars	T	G	13: 49,722,212 (GRCm38)	S792A	probably benign	Het
Igf1r	A	G	7: 68,226,193 (GRCm38)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,205,606 (GRCm38)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,376,305 (GRCm38)		probably benign	Het
Ints13	A	T	6: 146,555,044 (GRCm38)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm38)	S797A	probably benign	Het
Itgad	T	A	7: 128,189,231 (GRCm38)	D405E	probably benign	Het
Itgam	A	T	7: 128,086,058 (GRCm38)	I448F	probably damaging	Het
Klk1	C	T	7: 44,228,749 (GRCm38)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,544,884 (GRCm38)	M1V	probably null	Het
Mdga1	A	G	17: 29,852,442 (GRCm38)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,464,971 (GRCm38)	R604L	probably benign	Het
Olfr1170	A	T	2: 88,224,780 (GRCm38)	L84*	probably null	Het
Olfr656	T	C	7: 104,618,240 (GRCm38)	V187A	probably damaging	Het
Pcdhb7	T	A	18: 37,343,390 (GRCm38)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,889,128 (GRCm38)	D139G	probably damaging	Het
Pkp3	A	C	7: 141,088,367 (GRCm38)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,356,220 (GRCm38)	S524T	probably benign	Het
Pno1	T	C	11: 17,211,127 (GRCm38)	E69G	probably benign	Het
Pold1	C	T	7: 44,541,715 (GRCm38)	V231M	probably benign	Het
Poli	A	G	18: 70,522,731 (GRCm38)	S248P	probably damaging	Het
Ppox	C	T	1: 171,279,552 (GRCm38)	S138N	probably damaging	Het
Psg20	T	C	7: 18,685,976 (GRCm38)	E6G	probably null	Het
Rbmx	C	T	X: 57,391,566 (GRCm38)		probably null	Het
Rln1	T	A	19: 29,331,936 (GRCm38)	K148*	probably null	Het
Rnf213	C	T	11: 119,414,521 (GRCm38)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,799,093 (GRCm38)	V904E	probably null	Het
Sf3b2	T	A	19: 5,283,672 (GRCm38)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,507,189 (GRCm38)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,692,249 (GRCm38)	Y973*	probably null	Het
Spink5	G	A	18: 44,003,198 (GRCm38)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,997,574 (GRCm38)	V536I	possibly damaging	Het
Tcf20	T	A	15: 82,852,300 (GRCm38)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,430,964 (GRCm38)	K45R	probably benign	Het
Tirap	A	G	9: 35,189,194 (GRCm38)	S65P	probably benign	Het
Trim25	C	T	11: 88,999,640 (GRCm38)	P51L	probably damaging	Het
Trim61	T	C	8: 65,014,417 (GRCm38)	N64S	probably benign	Het
Twf1	T	A	15: 94,581,067 (GRCm38)		probably null	Het
Ubr4	A	C	4: 139,445,262 (GRCm38)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,562,581 (GRCm38)	M86T	probably damaging	Het
Utrn	T	C	10: 12,667,618 (GRCm38)	D1762G	probably benign	Het
V1rd19	T	A	7: 24,003,207 (GRCm38)	F33I	probably benign	Het
Vmn2r52	T	C	7: 10,159,338 (GRCm38)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,726,877 (GRCm38)	W472*	probably null	Het
Vrk2	C	A	11: 26,550,046 (GRCm38)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,203,685 (GRCm38)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,950,513 (GRCm38)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm38)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm38)	I253T	probably damaging	Het

Other mutations in Tbx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Tbx3	APN	5	119,682,643 (GRCm38)	missense	probably benign	0.45
IGL02174:Tbx3	APN	5	119,675,584 (GRCm38)	nonsense	probably null
IGL02508:Tbx3	APN	5	119,678,812 (GRCm38)	missense	possibly damaging	0.48
IGL03035:Tbx3	APN	5	119,683,096 (GRCm38)	utr 3 prime	probably benign
R0047:Tbx3	UTSW	5	119,680,446 (GRCm38)	missense	probably damaging	0.99
R0365:Tbx3	UTSW	5	119,675,250 (GRCm38)	missense	possibly damaging	0.81
R1209:Tbx3	UTSW	5	119,680,953 (GRCm38)	missense	probably benign	0.19
R1956:Tbx3	UTSW	5	119,680,953 (GRCm38)	missense	probably benign	0.19
R2231:Tbx3	UTSW	5	119,677,524 (GRCm38)	missense	probably damaging	1.00
R4093:Tbx3	UTSW	5	119,680,748 (GRCm38)	missense	probably benign
R4400:Tbx3	UTSW	5	119,680,571 (GRCm38)	missense	probably damaging	0.99
R4578:Tbx3	UTSW	5	119,682,776 (GRCm38)	missense	probably damaging	0.99
R4693:Tbx3	UTSW	5	119,677,570 (GRCm38)	missense	possibly damaging	0.72
R4716:Tbx3	UTSW	5	119,675,670 (GRCm38)	missense	possibly damaging	0.94
R4804:Tbx3	UTSW	5	119,680,512 (GRCm38)	missense	possibly damaging	0.63
R5664:Tbx3	UTSW	5	119,678,731 (GRCm38)	missense	possibly damaging	0.48
R5724:Tbx3	UTSW	5	119,675,603 (GRCm38)	missense	possibly damaging	0.75
R5990:Tbx3	UTSW	5	119,680,529 (GRCm38)	missense	probably benign	0.02
R6133:Tbx3	UTSW	5	119,680,953 (GRCm38)	missense	probably benign	0.19
R6180:Tbx3	UTSW	5	119,674,067 (GRCm38)	missense	probably damaging	1.00
R6429:Tbx3	UTSW	5	119,674,191 (GRCm38)	nonsense	probably null
R7154:Tbx3	UTSW	5	119,672,028 (GRCm38)	missense	possibly damaging	0.89
R7195:Tbx3	UTSW	5	119,675,583 (GRCm38)	missense	probably damaging	1.00
R7352:Tbx3	UTSW	5	119,677,560 (GRCm38)	missense	probably benign	0.00
R7921:Tbx3	UTSW	5	119,680,870 (GRCm38)	missense	probably benign	0.01
R7921:Tbx3	UTSW	5	119,680,869 (GRCm38)	missense	possibly damaging	0.76
R8050:Tbx3	UTSW	5	119,683,067 (GRCm38)	missense	probably benign	0.38
R8089:Tbx3	UTSW	5	119,680,569 (GRCm38)	missense	probably damaging	0.98
R8351:Tbx3	UTSW	5	119,680,776 (GRCm38)	missense	probably damaging	1.00
R8422:Tbx3	UTSW	5	119,680,516 (GRCm38)	missense	possibly damaging	0.94
R8885:Tbx3	UTSW	5	119,680,559 (GRCm38)	missense	probably benign
R8891:Tbx3	UTSW	5	119,671,918 (GRCm38)	start gained	probably benign
R8987:Tbx3	UTSW	5	119,680,821 (GRCm38)	missense	possibly damaging	0.78
R9240:Tbx3	UTSW	5	119,680,895 (GRCm38)	missense	probably benign
X0063:Tbx3	UTSW	5	119,680,881 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTAATGACCGTGTAGACGGTGAGG -3'
(R):5'- TTAGGAGATGAGCCCAAGCCACAG -3'

Sequencing Primer
(F):5'- CCGAGGAACAATTTTGGAGTC -3'
(R):5'- CAGATGTCCAGCTTAGAGTTCAG -3'

Posted On

2013-04-16