Mutagenetix > Incidental Mutation

Incidental Mutation 'R4716:Tbx3'

354024

Institutional Source

Beutler Lab

Gene Symbol

Tbx3

Ensembl Gene

ENSMUSG00000018604

Gene Name

T-box 3

Synonyms

D5Ertd189e

MMRRC Submission

041983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119808734-119822789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119813735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 257 (E257G)

Ref Sequence

ENSEMBL: ENSMUSP00000112519 (fasta)

Gene Model

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

AlphaFold

P70324

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018748
AA Change: E277G

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018748
Gene: ENSMUSG00000018604
AA Change: E277G

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

possibly damaging
Transcript: ENSMUST00000079719
AA Change: E257G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078657
Gene: ENSMUSG00000018604
AA Change: E257G

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

possibly damaging
Transcript: ENSMUST00000121021
AA Change: E257G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112519
Gene: ENSMUSG00000018604
AA Change: E257G

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Adam8	T	A	7: 139,563,851 (GRCm39)	D717V	probably benign	Het
Aknad1	T	C	3: 108,682,417 (GRCm39)		probably null	Het
Alk	A	T	17: 72,512,937 (GRCm39)	W341R	probably damaging	Het
Ankdd1b	G	A	13: 96,591,091 (GRCm39)	Q101*	probably null	Het
Anpep	A	C	7: 79,476,380 (GRCm39)	S829A	probably benign	Het
Armh3	A	G	19: 45,948,781 (GRCm39)	S233P	probably damaging	Het
Ate1	A	T	7: 130,115,511 (GRCm39)	C72S	probably damaging	Het
Atp6v0a4	G	A	6: 38,037,999 (GRCm39)	L533F	probably damaging	Het
Bach1	T	C	16: 87,512,267 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,799,599 (GRCm39)	D240G	probably benign	Het
Cdc14b	C	T	13: 64,357,014 (GRCm39)	S21N	probably damaging	Het
Cdh3	A	G	8: 107,270,520 (GRCm39)	I466V	probably benign	Het
Cog1	A	G	11: 113,547,923 (GRCm39)	E137G	probably damaging	Het
Col4a2	A	G	8: 11,452,224 (GRCm39)	D180G	probably damaging	Het
Cyp2c40	A	T	19: 39,791,105 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,827,188 (GRCm39)	R97H	probably damaging	Het
Ddx52	T	C	11: 83,846,031 (GRCm39)		probably null	Het
Dhx58	C	T	11: 100,587,797 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,360,427 (GRCm39)	S368T	probably damaging	Het
Dnah17	C	A	11: 117,964,474 (GRCm39)	V2435L	probably benign	Het
Dnajc7	A	G	11: 100,510,402 (GRCm39)	V10A	probably benign	Het
Dscam	G	T	16: 96,420,771 (GRCm39)	T1705K	possibly damaging	Het
Dscaml1	G	A	9: 45,361,890 (GRCm39)	V217M	probably damaging	Het
Dync2h1	A	G	9: 7,142,648 (GRCm39)		probably null	Het
F5	A	G	1: 164,021,488 (GRCm39)	D1321G	probably damaging	Het
Fam174a	C	T	1: 95,241,770 (GRCm39)	P77S	probably benign	Het
Fars2	G	A	13: 36,389,051 (GRCm39)	R180H	probably damaging	Het
Fnbp1	T	C	2: 30,945,532 (GRCm39)	T154A	probably benign	Het
Fsip2	T	A	2: 82,805,203 (GRCm39)	N507K	probably damaging	Het
Glg1	G	T	8: 111,887,407 (GRCm39)	Y449*	probably null	Het
Gm15130	A	T	2: 110,964,560 (GRCm39)	Y187*	probably null	Het
Gm973	A	T	1: 59,591,713 (GRCm39)	K366*	probably null	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hao1	A	G	2: 134,347,540 (GRCm39)	I255T	probably damaging	Het
Herc6	T	A	6: 57,575,423 (GRCm39)	V148E	probably damaging	Het
Insm2	T	A	12: 55,647,677 (GRCm39)	C474S	possibly damaging	Het
Itch	T	C	2: 155,052,502 (GRCm39)		probably null	Het
Itga2	A	G	13: 114,993,909 (GRCm39)	V748A	probably damaging	Het
Itga9	T	A	9: 118,510,826 (GRCm39)	S452T	probably damaging	Het
Kdm4b	C	A	17: 56,693,178 (GRCm39)	D338E	probably benign	Het
Krt40	G	A	11: 99,431,045 (GRCm39)	R155C	probably damaging	Het
Krtap16-1	A	G	11: 99,876,000 (GRCm39)	V468A	probably damaging	Het
Lactb2	G	A	1: 13,708,619 (GRCm39)	P143L	probably damaging	Het
Lrba	C	A	3: 86,550,021 (GRCm39)	T2330K	probably damaging	Het
Lrp2bp	A	T	8: 46,466,208 (GRCm39)	I106F	probably benign	Het
Luzp2	A	G	7: 54,485,710 (GRCm39)	K2E	probably damaging	Het
Lypd6	T	C	2: 50,078,855 (GRCm39)		probably null	Het
Maml1	A	T	11: 50,148,694 (GRCm39)	D1015E	probably benign	Het
Mdfi	T	G	17: 48,131,906 (GRCm39)	D106A	possibly damaging	Het
Olfm3	T	C	3: 114,874,755 (GRCm39)	M17T	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2o1	A	G	11: 49,051,717 (GRCm39)	Y292C	probably damaging	Het
Or8c16	T	A	9: 38,130,714 (GRCm39)	N198K	probably damaging	Het
Or8g30	A	G	9: 39,230,725 (GRCm39)	F62L	probably benign	Het
Otud7b	T	G	3: 96,058,227 (GRCm39)	L261V	probably damaging	Het
P2ry1	A	G	3: 60,910,893 (GRCm39)	N11D	probably damaging	Het
Pate2	T	C	9: 35,596,978 (GRCm39)		probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Per1	A	G	11: 68,992,057 (GRCm39)	E137G	probably damaging	Het
Phf11d	T	C	14: 59,590,791 (GRCm39)	T189A	probably benign	Het
Pik3r5	C	A	11: 68,386,030 (GRCm39)	S738R	possibly damaging	Het
Pikfyve	A	G	1: 65,285,635 (GRCm39)	Y913C	possibly damaging	Het
Pkd1	T	G	17: 24,795,107 (GRCm39)	S2265A	probably damaging	Het
Pkhd1l1	C	A	15: 44,419,428 (GRCm39)	N2964K	probably damaging	Het
Plch1	T	G	3: 63,688,967 (GRCm39)	D79A	probably damaging	Het
Pnliprp1	A	C	19: 58,728,901 (GRCm39)	T363P	possibly damaging	Het
Ppp1r10	T	A	17: 36,240,352 (GRCm39)	D547E	probably benign	Het
Prkdc	T	A	16: 15,628,701 (GRCm39)	I3482K	probably benign	Het
Ptpn4	A	G	1: 119,649,598 (GRCm39)	Y333H	probably damaging	Het
Ptpru	T	A	4: 131,548,279 (GRCm39)	M73L	probably benign	Het
Rrp12	A	G	19: 41,865,867 (GRCm39)	Y698H	probably damaging	Het
Scaf8	T	C	17: 3,227,398 (GRCm39)	F338L	unknown	Het
Slc17a1	G	T	13: 24,064,576 (GRCm39)	V347L	probably benign	Het
Slc1a2	T	A	2: 102,578,883 (GRCm39)	V263E	probably damaging	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Slc6a3	A	C	13: 73,705,195 (GRCm39)	I229L	probably benign	Het
Sos2	T	C	12: 69,654,145 (GRCm39)	I703V	probably benign	Het
Srpk1	T	C	17: 28,840,982 (GRCm39)	T15A	probably benign	Het
St6gal2	A	T	17: 55,817,367 (GRCm39)	Q510L	probably benign	Het
Stk24	T	C	14: 121,532,130 (GRCm39)	D289G	possibly damaging	Het
Taf2	T	G	15: 54,929,364 (GRCm39)	K64T	probably benign	Het
Tmem102	A	T	11: 69,695,022 (GRCm39)	F317I	probably damaging	Het
Trav10	A	G	14: 53,743,497 (GRCm39)	S33G	possibly damaging	Het
Ttn	T	A	2: 76,745,408 (GRCm39)	I5214F	probably damaging	Het
Ube2f	T	A	1: 91,182,002 (GRCm39)	L2Q	probably damaging	Het
Ube4b	A	G	4: 149,429,069 (GRCm39)	F857L	probably damaging	Het
Vmn2r18	T	A	5: 151,485,602 (GRCm39)	I631F	possibly damaging	Het
Zfp280d	T	A	9: 72,219,947 (GRCm39)	S241T	possibly damaging	Het
Zfp638	T	A	6: 83,956,544 (GRCm39)	L1717*	probably null	Het
Zfp719	A	G	7: 43,240,535 (GRCm39)	N708D	possibly damaging	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
R0365:Tbx3	UTSW	5	119,813,315 (GRCm39)	missense	possibly damaging	0.81
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
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'- TCGGCTTTGACAGGGGAAATG -3'
(R):5'- CAGCTTAGAGTTCAGTGCCTC -3'

Sequencing Primer
(F):5'- CTTTGACAGGGGAAATGAGGATGTC -3'
(R):5'- AGTGCCTCCCCTTTGAAAG -3'

Posted On

2015-10-21