Mutagenetix > Incidental Mutation

Incidental Mutation 'R0365:Tbx3'

36336

Institutional Source

Beutler Lab

Gene Symbol

Tbx3

Ensembl Gene

ENSMUSG00000018604

Gene Name

T-box 3

Synonyms

D5Ertd189e

MMRRC Submission

038571-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0365 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

119808734-119822789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119813315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 222 (A222V)

Ref Sequence

ENSEMBL: ENSMUSP00000018748 (fasta)

Gene Model

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

AlphaFold

P70324

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018748
AA Change: A222V

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018748
Gene: ENSMUSG00000018604
AA Change: A222V

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 benign
Transcript: ENSMUST00000079719

SMART Domains

Protein: ENSMUSP00000078657
Gene: ENSMUSG00000018604

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 benign
Transcript: ENSMUST00000121021

SMART Domains

Protein: ENSMUSP00000112519
Gene: ENSMUSG00000018604

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

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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
9130401M01Rik	A	T	15: 57,892,088 (GRCm39)	M173K	probably benign	Het
Abcb1b	T	A	5: 8,856,009 (GRCm39)	F39Y	probably damaging	Het
Acbd3	A	G	1: 180,566,177 (GRCm39)	Y290C	probably damaging	Het
Alg12	A	C	15: 88,700,352 (GRCm39)	I28R	possibly damaging	Het
Amer2	A	T	14: 60,616,984 (GRCm39)	D393V	probably damaging	Het
Anxa5	A	T	3: 36,511,618 (GRCm39)	V153D	probably damaging	Het
Arl5a	T	C	2: 52,306,141 (GRCm39)	M64V	probably benign	Het
Astn1	T	C	1: 158,516,118 (GRCm39)	L1236P	probably damaging	Het
Atg2a	T	C	19: 6,297,713 (GRCm39)	S424P	possibly damaging	Het
AW551984	A	T	9: 39,510,617 (GRCm39)	S239R	probably benign	Het
Baz1b	T	C	5: 135,268,985 (GRCm39)	V1278A	probably benign	Het
Cbfa2t3	G	T	8: 123,361,799 (GRCm39)	L408I	probably benign	Het
Cdc27	A	T	11: 104,419,250 (GRCm39)	N227K	possibly damaging	Het
Cdh20	A	T	1: 110,036,486 (GRCm39)	Q555H	probably damaging	Het
Cdh23	T	A	10: 60,215,094 (GRCm39)	N1412I	probably damaging	Het
Cdhr2	T	C	13: 54,866,105 (GRCm39)	S302P	probably benign	Het
Cep350	C	A	1: 155,782,317 (GRCm39)	E1563D	probably benign	Het
Cfap221	T	A	1: 119,912,753 (GRCm39)	E107V	probably benign	Het
Col6a3	C	A	1: 90,715,938 (GRCm39)	R1641L	unknown	Het
Coro6	A	T	11: 77,354,916 (GRCm39)	I60F	probably benign	Het
Dennd2b	A	T	7: 109,138,156 (GRCm39)	V753E	probably damaging	Het
Dock10	G	T	1: 80,573,400 (GRCm39)	N245K	probably damaging	Het
Epb41l2	T	A	10: 25,345,119 (GRCm39)	N286K	probably damaging	Het
Fam83g	G	T	11: 61,593,935 (GRCm39)	E490*	probably null	Het
Gnb1l	T	C	16: 18,371,211 (GRCm39)	I234T	possibly damaging	Het
Gtf3a	T	A	5: 146,885,747 (GRCm39)	W53R	probably damaging	Het
Ikzf4	T	C	10: 128,470,276 (GRCm39)	I415V	probably benign	Het
Il11ra1	T	C	4: 41,767,527 (GRCm39)	V293A	probably damaging	Het
Il17ra	G	A	6: 120,455,410 (GRCm39)	V340M	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kif24	A	T	4: 41,428,731 (GRCm39)	H76Q	probably benign	Het
Klhl25	T	C	7: 75,516,264 (GRCm39)	L390P	probably damaging	Het
Klhl26	T	C	8: 70,904,479 (GRCm39)	D443G	probably damaging	Het
Lama3	A	T	18: 12,640,064 (GRCm39)	R86S	probably damaging	Het
Lrrc24	G	A	15: 76,599,984 (GRCm39)	A385V	probably benign	Het
Maea	C	T	5: 33,517,787 (GRCm39)	A109V	probably benign	Het
Mtor	A	T	4: 148,570,507 (GRCm39)	Y1188F	probably benign	Het
Nccrp1	T	C	7: 28,243,977 (GRCm39)	D202G	probably damaging	Het
Nsun4	A	T	4: 115,901,935 (GRCm39)	L177Q	probably damaging	Het
Nup155	C	T	15: 8,161,027 (GRCm39)	R571W	probably damaging	Het
Nup160	T	A	2: 90,539,188 (GRCm39)	M789K	probably benign	Het
Odad2	T	A	18: 7,217,800 (GRCm39)	H638L	probably benign	Het
Or5an1c	A	G	19: 12,218,440 (GRCm39)	F195S	probably benign	Het
Or5p50	A	T	7: 107,422,124 (GRCm39)	L184*	probably null	Het
Or8d2b	A	T	9: 38,788,481 (GRCm39)	H3L	probably benign	Het
Pgpep1	G	T	8: 71,105,174 (GRCm39)		probably null	Het
Pkd1l2	C	T	8: 117,748,589 (GRCm39)	V1861M	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plin4	G	T	17: 56,411,667 (GRCm39)	T788K	possibly damaging	Het
Ppp3r2	T	C	4: 49,681,902 (GRCm39)	D16G	possibly damaging	Het
Pramel22	G	T	4: 143,382,071 (GRCm39)	Y208*	probably null	Het
Prdm16	A	T	4: 154,426,513 (GRCm39)	I424N	probably damaging	Het
Psen2	T	A	1: 180,056,410 (GRCm39)	I396F	probably damaging	Het
Psip1	C	T	4: 83,403,949 (GRCm39)		probably null	Het
Ptprd	G	A	4: 76,055,083 (GRCm39)	T215I	probably damaging	Het
Rec114	A	G	9: 58,648,822 (GRCm39)	S2P	probably benign	Het
Rexo1	A	G	10: 80,378,410 (GRCm39)	I1181T	probably damaging	Het
Rfx7	T	C	9: 72,527,118 (GRCm39)	M1436T	probably benign	Het
Rnf213	T	A	11: 119,316,937 (GRCm39)	V1020E	possibly damaging	Het
Rorc	G	A	3: 94,296,069 (GRCm39)	G83S	probably damaging	Het
Ryr2	T	G	13: 11,683,725 (GRCm39)	Q3113P	possibly damaging	Het
Shank1	T	C	7: 44,003,401 (GRCm39)	S1698P	possibly damaging	Het
Slc2a2	T	C	3: 28,762,828 (GRCm39)		probably null	Het
Slc5a9	A	T	4: 111,749,033 (GRCm39)	Y98*	probably null	Het
Smc6	T	C	12: 11,333,175 (GRCm39)		probably null	Het
Sptb	G	T	12: 76,647,157 (GRCm39)	F1959L	probably benign	Het
Srgap1	T	A	10: 121,621,610 (GRCm39)	H984L	possibly damaging	Het
Ssc5d	T	A	7: 4,931,466 (GRCm39)	C224*	probably null	Het
Ston2	A	T	12: 91,614,634 (GRCm39)	H591Q	probably benign	Het
Thsd7a	A	G	6: 12,321,886 (GRCm39)		probably null	Het
Usp9y	T	C	Y: 1,364,732 (GRCm39)	D1027G	probably damaging	Het
Wnt5a	C	T	14: 28,240,461 (GRCm39)	R184*	probably null	Het
Zfpm2	A	G	15: 40,637,462 (GRCm39)	E74G	possibly damaging	Het
Zwint	C	A	10: 72,493,127 (GRCm39)	S223*	probably null	Het

Other mutations in Tbx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Tbx3	APN	5	119,820,708 (GRCm39)	missense	probably benign	0.45
IGL02174:Tbx3	APN	5	119,813,649 (GRCm39)	nonsense	probably null
IGL02508:Tbx3	APN	5	119,816,877 (GRCm39)	missense	possibly damaging	0.48
IGL03035:Tbx3	APN	5	119,821,161 (GRCm39)	utr 3 prime	probably benign
R0047:Tbx3	UTSW	5	119,818,511 (GRCm39)	missense	probably damaging	0.99
R0184:Tbx3	UTSW	5	119,813,627 (GRCm39)	missense	probably damaging	1.00
R1209:Tbx3	UTSW	5	119,819,018 (GRCm39)	missense	probably benign	0.19
R1956:Tbx3	UTSW	5	119,819,018 (GRCm39)	missense	probably benign	0.19
R2231:Tbx3	UTSW	5	119,815,589 (GRCm39)	missense	probably damaging	1.00
R4093:Tbx3	UTSW	5	119,818,813 (GRCm39)	missense	probably benign
R4400:Tbx3	UTSW	5	119,818,636 (GRCm39)	missense	probably damaging	0.99
R4578:Tbx3	UTSW	5	119,820,841 (GRCm39)	missense	probably damaging	0.99
R4693:Tbx3	UTSW	5	119,815,635 (GRCm39)	missense	possibly damaging	0.72
R4716:Tbx3	UTSW	5	119,813,735 (GRCm39)	missense	possibly damaging	0.94
R4804:Tbx3	UTSW	5	119,818,577 (GRCm39)	missense	possibly damaging	0.63
R5664:Tbx3	UTSW	5	119,816,796 (GRCm39)	missense	possibly damaging	0.48
R5724:Tbx3	UTSW	5	119,813,668 (GRCm39)	missense	possibly damaging	0.75
R5990:Tbx3	UTSW	5	119,818,594 (GRCm39)	missense	probably benign	0.02
R6133:Tbx3	UTSW	5	119,819,018 (GRCm39)	missense	probably benign	0.19
R6180:Tbx3	UTSW	5	119,812,132 (GRCm39)	missense	probably damaging	1.00
R6429:Tbx3	UTSW	5	119,812,256 (GRCm39)	nonsense	probably null
R7154:Tbx3	UTSW	5	119,810,093 (GRCm39)	missense	possibly damaging	0.89
R7195:Tbx3	UTSW	5	119,813,648 (GRCm39)	missense	probably damaging	1.00
R7352:Tbx3	UTSW	5	119,815,625 (GRCm39)	missense	probably benign	0.00
R7921:Tbx3	UTSW	5	119,818,935 (GRCm39)	missense	probably benign	0.01
R7921:Tbx3	UTSW	5	119,818,934 (GRCm39)	missense	possibly damaging	0.76
R8050:Tbx3	UTSW	5	119,821,132 (GRCm39)	missense	probably benign	0.38
R8089:Tbx3	UTSW	5	119,818,634 (GRCm39)	missense	probably damaging	0.98
R8351:Tbx3	UTSW	5	119,818,841 (GRCm39)	missense	probably damaging	1.00
R8422:Tbx3	UTSW	5	119,818,581 (GRCm39)	missense	possibly damaging	0.94
R8885:Tbx3	UTSW	5	119,818,624 (GRCm39)	missense	probably benign
R8891:Tbx3	UTSW	5	119,809,983 (GRCm39)	start gained	probably benign
R8987:Tbx3	UTSW	5	119,818,886 (GRCm39)	missense	possibly damaging	0.78
R9240:Tbx3	UTSW	5	119,818,960 (GRCm39)	missense	probably benign
X0063:Tbx3	UTSW	5	119,818,946 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGGACAGGGACTGCATTTGAAAC -3'
(R):5'- ATTCTGATAGGCAGTAACGGCGATG -3'

Sequencing Primer
(F):5'- GGACTGCATTTGAAACCCTTG -3'
(R):5'- AACGGCGATGAATTCTGTTTCC -3'

Posted On

2013-05-09