Mutagenetix > Incidental Mutation

Incidental Mutation 'R5664:Tbx3'

444250

Institutional Source

Beutler Lab

Gene Symbol

Tbx3

Ensembl Gene

ENSMUSG00000018604

Gene Name

T-box 3

Synonyms

D5Ertd189e

MMRRC Submission

043307-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5664 (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 119816796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 311 (K311R)

Ref Sequence

ENSEMBL: ENSMUSP00000078657 (fasta)

Gene Model

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

AlphaFold

P70324

Predicted Effect

probably benign
Transcript: ENSMUST00000018748
AA Change: K331R

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018748
Gene: ENSMUSG00000018604
AA Change: K331R

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: K311R

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078657
Gene: ENSMUSG00000018604
AA Change: K311R

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
AA Change: K311R

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112519
Gene: ENSMUSG00000018604
AA Change: K311R

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: ENSMUST00000145647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154680

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,325,977 (GRCm39)		probably null	Het
9430015G10Rik	T	A	4: 156,208,016 (GRCm39)	L112H	probably damaging	Het
Acaca	T	C	11: 84,134,210 (GRCm39)	L441P	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arsj	A	T	3: 126,232,306 (GRCm39)	I351F	probably damaging	Het
Atp6v1b2	A	G	8: 69,560,272 (GRCm39)	T373A	probably damaging	Het
Atr	C	A	9: 95,787,866 (GRCm39)	N1486K	probably benign	Het
Avl9	T	C	6: 56,730,824 (GRCm39)	S583P	probably damaging	Het
Bptf	A	T	11: 106,964,525 (GRCm39)	D1493E	probably benign	Het
Brme1	A	T	8: 84,893,288 (GRCm39)	I152F	probably benign	Het
C2cd2l	T	C	9: 44,225,069 (GRCm39)	E548G	probably damaging	Het
Capn3	G	A	2: 120,307,506 (GRCm39)	R15Q	probably benign	Het
Ccl3	A	G	11: 83,540,039 (GRCm39)	F22S	probably benign	Het
Clcf1	T	C	19: 4,272,150 (GRCm39)	F69S	probably damaging	Het
Col13a1	T	C	10: 61,686,895 (GRCm39)	E170G	probably damaging	Het
Dhx29	T	A	13: 113,083,413 (GRCm39)	F489L	probably damaging	Het
Dhx8	A	T	11: 101,631,577 (GRCm39)	N390I	probably damaging	Het
Dkk1	T	A	19: 30,526,189 (GRCm39)	Y135F	probably benign	Het
Edil3	G	T	13: 89,467,832 (GRCm39)	V446F	probably damaging	Het
Epha5	T	A	5: 84,479,725 (GRCm39)	E93V	probably damaging	Het
Epsti1	C	T	14: 78,201,104 (GRCm39)	T196I	possibly damaging	Het
Fras1	T	C	5: 96,876,394 (GRCm39)	S2376P	possibly damaging	Het
Frem2	A	G	3: 53,559,911 (GRCm39)	V1532A	probably benign	Het
Fsip2	T	A	2: 82,818,439 (GRCm39)	M4724K	probably benign	Het
Gcat	T	A	15: 78,927,273 (GRCm39)	L238Q	probably damaging	Het
Gimap6	T	C	6: 48,679,209 (GRCm39)	K276E	probably benign	Het
Gjb5	T	A	4: 127,249,722 (GRCm39)	I141F	probably benign	Het
Glt6d1	T	C	2: 25,704,192 (GRCm39)	I7V	probably benign	Het
Gtf2h5	G	A	17: 6,134,799 (GRCm39)	G30R	probably damaging	Het
Herc6	C	A	6: 57,595,669 (GRCm39)	T449K	probably benign	Het
Hpn	A	T	7: 30,798,687 (GRCm39)	Y132N	probably damaging	Het
Hpx	A	T	7: 105,244,355 (GRCm39)	M190K	probably benign	Het
Inf2	A	G	12: 112,578,162 (GRCm39)	H1151R	unknown	Het
Krt74	A	G	15: 101,669,014 (GRCm39)		noncoding transcript	Het
Loxl3	G	A	6: 83,026,863 (GRCm39)	S564N	probably benign	Het
Map7	T	A	10: 20,143,105 (GRCm39)	V418E	unknown	Het
Mrpl37	T	C	4: 106,921,588 (GRCm39)	N214D	probably benign	Het
Mthfr	T	C	4: 148,139,923 (GRCm39)	Y656H	probably damaging	Het
Myo9b	A	G	8: 71,812,526 (GRCm39)	D2099G	probably benign	Het
Nktr	T	A	9: 121,578,483 (GRCm39)	C825*	probably null	Het
Nomo1	A	G	7: 45,725,581 (GRCm39)	E1029G	probably benign	Het
Nup133	T	C	8: 124,633,020 (GRCm39)	D1037G	probably benign	Het
Or4b12	A	G	2: 90,095,959 (GRCm39)	F272L	probably damaging	Het
Or5w22	T	C	2: 87,363,178 (GRCm39)	L267P	probably benign	Het
Pcdhb14	T	A	18: 37,582,049 (GRCm39)	V385D	possibly damaging	Het
Pik3c2g	T	C	6: 139,682,733 (GRCm39)	L38P	probably damaging	Het
Pkd1	A	T	17: 24,788,345 (GRCm39)	D701V	probably damaging	Het
Pnpla6	A	G	8: 3,587,478 (GRCm39)	T1070A	probably damaging	Het
Ppl	T	C	16: 4,923,919 (GRCm39)	D185G	probably benign	Het
Prp2rt	C	A	13: 97,235,629 (GRCm39)	L39F	probably damaging	Het
Prss1l	C	T	6: 41,371,605 (GRCm39)	P17L	probably benign	Het
Prune1	A	T	3: 95,165,489 (GRCm39)	L261Q	probably damaging	Het
Qser1	A	T	2: 104,608,541 (GRCm39)	L1444I	probably damaging	Het
Serpina6	A	C	12: 103,620,726 (GRCm39)	C8G	probably damaging	Het
Sla2	A	T	2: 156,716,919 (GRCm39)	D180E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Snhg16	A	T	11: 116,563,490 (GRCm39)	T27S	possibly damaging	Het
Tdpoz6	A	G	3: 93,599,994 (GRCm39)	F125S	probably benign	Het
Thbs2	A	T	17: 14,910,099 (GRCm39)	C167S	probably damaging	Het
Trak1	T	A	9: 121,301,373 (GRCm39)	C710S	possibly damaging	Het
Tsks	G	A	7: 44,603,208 (GRCm39)	E337K	probably damaging	Het
Vcpip1	A	G	1: 9,816,604 (GRCm39)	I593T	probably damaging	Het
Vmn2r118	A	G	17: 55,899,765 (GRCm39)	I713T	possibly damaging	Het
Vmn2r23	C	T	6: 123,690,033 (GRCm39)	T303M	probably damaging	Het
Vmn2r68	A	T	7: 84,882,978 (GRCm39)	M258K	probably benign	Het
Vmn2r76	A	G	7: 85,895,202 (GRCm39)		probably null	Het
Wap	A	G	11: 6,588,609 (GRCm39)	I5T	possibly damaging	Het
Zfp235	A	C	7: 23,841,576 (GRCm39)	H665P	probably 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
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
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'- GTCCTCCCAGTTAAACAGGC -3'
(R):5'- TAACTCCTAAAGCCTCGGGG -3'

Sequencing Primer
(F):5'- CCCAGGGTCAGAACATGTC -3'
(R):5'- CTCGGGGGCCAAGAAGC -3'

Posted On

2016-11-09