Mutagenetix > Incidental Mutation

Incidental Mutation 'R7195:Tbx3'

559848

Institutional Source

Beutler Lab

Gene Symbol

Tbx3

Ensembl Gene

ENSMUSG00000018604

Gene Name

T-box 3

Synonyms

D5Ertd189e

MMRRC Submission

045336-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7195 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119808734-119822789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119813648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 248 (Y248C)

Ref Sequence

ENSEMBL: ENSMUSP00000018748 (fasta)

Gene Model

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

AlphaFold

P70324

Predicted Effect

probably damaging
Transcript: ENSMUST00000018748
AA Change: Y248C

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

SMART Domains

Protein: ENSMUSP00000018748
Gene: ENSMUSG00000018604
AA Change: Y248C

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: Y228C

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

SMART Domains

Protein: ENSMUSP00000078657
Gene: ENSMUSG00000018604
AA Change: Y228C

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: Y228C

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

SMART Domains

Protein: ENSMUSP00000112519
Gene: ENSMUSG00000018604
AA Change: Y228C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	C	11: 58,179,242 (GRCm39)		probably null	Het
Abca2	A	G	2: 25,332,088 (GRCm39)	D1400G	probably benign	Het
Actl11	A	T	9: 107,806,069 (GRCm39)	K131*	probably null	Het
Adam39	A	T	8: 41,277,812 (GRCm39)	R68*	probably null	Het
Akap7	A	T	10: 25,147,405 (GRCm39)	N108K	probably damaging	Het
Arhgef10l	C	A	4: 140,338,721 (GRCm39)	A14S	probably benign	Het
Ccdc141	T	G	2: 76,879,927 (GRCm39)	N632T	probably benign	Het
Ccm2	T	C	11: 6,546,302 (GRCm39)	S435P	probably damaging	Het
Cd36	A	G	5: 18,019,187 (GRCm39)	L178P	probably damaging	Het
Cd7	T	C	11: 120,929,075 (GRCm39)	I59V	probably benign	Het
Cds2	T	A	2: 132,135,204 (GRCm39)	S32T	probably benign	Het
Cep19	A	G	16: 31,925,904 (GRCm39)	D104G	probably damaging	Het
Col1a2	C	T	6: 4,510,753 (GRCm39)	P68S	unknown	Het
Col20a1	A	G	2: 180,649,024 (GRCm39)	H1011R	probably damaging	Het
Cspg4b	A	T	13: 113,504,463 (GRCm39)	D1864V		Het
D7Ertd443e	A	G	7: 133,896,851 (GRCm39)	V513A	probably damaging	Het
Egfr	C	T	11: 16,818,162 (GRCm39)	P228L	probably damaging	Het
Fam243	C	T	16: 92,118,037 (GRCm39)	V84M	probably damaging	Het
Fam78b	A	G	1: 166,906,131 (GRCm39)	R97G	probably damaging	Het
Flt1	C	T	5: 147,540,386 (GRCm39)	V768M	probably damaging	Het
Gdap1l1	A	T	2: 163,288,050 (GRCm39)	N96Y	probably damaging	Het
Gm7168	T	A	17: 14,169,622 (GRCm39)	Y330N	probably benign	Het
Hnrnpul1	T	C	7: 25,424,203 (GRCm39)	N683S	unknown	Het
Ice2	C	T	9: 69,335,782 (GRCm39)	P922S	possibly damaging	Het
Iglv2	A	G	16: 19,079,260 (GRCm39)	V81A	not run	Het
Irs1	A	G	1: 82,265,177 (GRCm39)	I1013T	probably benign	Het
Itih4	T	C	14: 30,621,432 (GRCm39)	S832P	probably damaging	Het
Klhl1	A	T	14: 96,517,513 (GRCm39)	Y388N	probably benign	Het
Lrrc37a	G	A	11: 103,348,601 (GRCm39)	S2698L	unknown	Het
Map4k4	T	C	1: 40,058,829 (GRCm39)	Y1008H	possibly damaging	Het
Mdn1	G	T	4: 32,701,823 (GRCm39)	G1519W	probably damaging	Het
Mga	T	A	2: 119,747,809 (GRCm39)	D653E	probably damaging	Het
Npas1	T	C	7: 16,208,733 (GRCm39)	E48G	probably damaging	Het
Nup188	G	A	2: 30,231,842 (GRCm39)		probably null	Het
Or1p1b	G	T	11: 74,130,394 (GRCm39)	M1I	probably null	Het
Or3a4	T	A	11: 73,945,223 (GRCm39)	M121L	probably damaging	Het
Or4c110	G	A	2: 88,832,075 (GRCm39)	L186F		Het
Or51a39	A	G	7: 102,362,873 (GRCm39)	V249A	possibly damaging	Het
Or55b4	A	T	7: 102,133,574 (GRCm39)	V251D	probably damaging	Het
Or7h8	A	G	9: 20,123,840 (GRCm39)	N65S	probably damaging	Het
Oxct1	T	C	15: 4,158,383 (GRCm39)	V439A	probably damaging	Het
Pcdhb22	G	T	18: 37,652,341 (GRCm39)	G13W	probably damaging	Het
Pex11g	A	G	8: 3,509,237 (GRCm39)	V230A	probably benign	Het
Pop1	C	T	15: 34,510,525 (GRCm39)	S439L	probably damaging	Het
Ptpn9	T	A	9: 56,929,533 (GRCm39)	H83Q	probably benign	Het
Qrfp	C	T	2: 31,698,704 (GRCm39)	R76H	probably benign	Het
Slc30a3	A	G	5: 31,246,139 (GRCm39)	V197A	probably benign	Het
Slc8a3	T	C	12: 81,361,047 (GRCm39)	N591D	possibly damaging	Het
Sp4	G	T	12: 118,263,807 (GRCm39)	Q80K	possibly damaging	Het
Spock1	C	T	13: 58,055,316 (GRCm39)	G29D	possibly damaging	Het
Sprr1a	G	T	3: 92,391,674 (GRCm39)	P109Q	probably damaging	Het
Suz12	T	A	11: 79,904,309 (GRCm39)	F239L	probably damaging	Het
Trabd2b	T	C	4: 114,266,637 (GRCm39)	L217P	probably damaging	Het
Ubxn11	A	C	4: 133,853,726 (GRCm39)	I398L	possibly damaging	Het
Vmn1r173	T	A	7: 23,401,884 (GRCm39)	S40T	probably damaging	Het
Vmn2r2	T	C	3: 64,023,900 (GRCm39)	S894G	probably benign	Het
Vmn2r65	A	G	7: 84,592,347 (GRCm39)		probably null	Het
Vps13c	G	A	9: 67,853,107 (GRCm39)	G2400D	possibly damaging	Het
Vps8	T	C	16: 21,275,032 (GRCm39)	Y197H	probably damaging	Het
Wdr91	T	C	6: 34,866,209 (GRCm39)	N486D	possibly damaging	Het
Wwp1	A	G	4: 19,627,908 (GRCm39)	I695T	possibly damaging	Het
Zc3hc1	T	C	6: 30,382,547 (GRCm39)	D133G	probably benign	Het
Zcchc14	T	C	8: 122,335,200 (GRCm39)	I307V	unknown	Het
Zfp933	G	A	4: 147,910,636 (GRCm39)	T320I	probably benign	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
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
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'- AGTCTCCAGAAGATAACATCTGTGG -3'
(R):5'- ATTCCAGACTCTCTGCCCAAG -3'

Sequencing Primer
(F):5'- TCTGTGGAGTGAAACATACCC -3'
(R):5'- GCCCAAGGCCCTGTTTAAC -3'

Posted On

2019-06-26