Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4480001:Tbx2'

554876

Institutional Source

Beutler Lab

Gene Symbol

Tbx2

Ensembl Gene

ENSMUSG00000000093

Gene Name

T-box 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4480001 (G1)

Quality Score

172.009

Status

Not validated

Chromosome

Chromosomal Location

85723441-85732774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85725561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 171 (R171C)

Ref Sequence

ENSEMBL: ENSMUSP00000000095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000095]

AlphaFold

Q60707

Predicted Effect

probably damaging
Transcript: ENSMUST00000000095
AA Change: R171C

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

SMART Domains

Protein: ENSMUSP00000000095
Gene: ENSMUSG00000000093
AA Change: R171C

Domain	Start	End	E-Value	Type
low complexity region	28	75	N/A	INTRINSIC
TBOX	104	292	2.44e-130	SMART
Pfam:TBX	305	382	1.5e-18	PFAM
low complexity region	391	408	N/A	INTRINSIC
low complexity region	509	549	N/A	INTRINSIC
SCOP:d1gkub1	582	612	5e-3	SMART

Coding Region Coverage

1x: 93.3%
3x: 90.7%
10x: 83.8%
20x: 69.1%

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 gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality with abnormal cardiac and vascular development, edema, and polydactyly. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	G	A	19: 4,917,605 (GRCm39)	Q413*	probably null	Het
Ahnak2	C	T	12: 112,740,358 (GRCm39)	S1238N	possibly damaging	Het
Arsk	T	C	13: 76,210,484 (GRCm39)	E521G	probably damaging	Het
Baiap2	A	G	11: 119,887,913 (GRCm39)	T356A	probably benign	Het
Baz1b	G	A	5: 135,246,819 (GRCm39)	R756H	probably damaging	Het
Celsr1	G	A	15: 85,916,615 (GRCm39)	P453S	probably damaging	Het
Cep41	G	A	6: 30,658,412 (GRCm39)	P196S	probably damaging	Het
Cln5	T	A	14: 103,309,214 (GRCm39)	Y89*	probably null	Het
Cntnap3	A	G	13: 64,905,024 (GRCm39)	F919S	probably damaging	Het
Cntrl	C	T	2: 35,045,440 (GRCm39)	H1383Y	probably damaging	Het
Cobl	A	G	11: 12,203,592 (GRCm39)	S1037P	probably benign	Het
Col17a1	A	T	19: 47,659,813 (GRCm39)	S380T	probably benign	Het
Cyrib	G	A	15: 63,828,490 (GRCm39)	T11I	probably benign	Het
Dagla	A	T	19: 10,238,022 (GRCm39)	S323T	probably benign	Het
Dicer1	G	T	12: 104,662,803 (GRCm39)	Q1593K	probably benign	Het
Dnah6	T	C	6: 73,078,863 (GRCm39)	I2367V	probably benign	Het
Emc1	T	C	4: 139,086,588 (GRCm39)	S184P	possibly damaging	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Erbb4	A	T	1: 68,114,702 (GRCm39)	M914K	probably damaging	Het
Eva1a	A	G	6: 82,068,784 (GRCm39)	E37G	probably damaging	Het
Fyco1	G	T	9: 123,657,715 (GRCm39)	Y820*	probably null	Het
Gipr	T	C	7: 18,896,859 (GRCm39)	Y137C	probably damaging	Het
Gm5414	A	G	15: 101,536,181 (GRCm39)	V148A	probably damaging	Het
Gpn1	T	C	5: 31,654,685 (GRCm39)	V79A	probably damaging	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Inpp4b	A	C	8: 82,772,896 (GRCm39)	E730A	probably damaging	Het
Inpp5f	C	T	7: 128,286,858 (GRCm39)	T579I	probably benign	Het
Kif15	A	T	9: 122,840,608 (GRCm39)	M1201L	probably benign	Het
Ltbp3	A	G	19: 5,801,254 (GRCm39)	N631S	possibly damaging	Het
Mdh1	G	A	11: 21,508,538 (GRCm39)	S268L	probably damaging	Het
Mgat4e	T	A	1: 134,469,103 (GRCm39)	T314S	possibly damaging	Het
Nsd1	A	G	13: 55,361,731 (GRCm39)	Q233R	probably benign	Het
Or11g1	T	C	14: 50,651,372 (GRCm39)	F124L	probably benign	Het
Or5w17	T	C	2: 87,584,127 (GRCm39)	D70G	possibly damaging	Het
Paqr5	T	A	9: 61,863,438 (GRCm39)	I295L	probably benign	Het
Peg10	C	T	6: 4,756,560 (GRCm39)	H379Y	unknown	Het
Phtf2	A	T	5: 21,018,242 (GRCm39)	I33N	probably damaging	Het
Plcb2	T	C	2: 118,553,977 (GRCm39)	M115V	probably benign	Het
Ppp2r3d	A	G	9: 101,003,576 (GRCm39)	Y431H	possibly damaging	Het
Prph2	GT	G	17: 47,222,039 (GRCm39)		probably null	Het
Psmd1	C	T	1: 86,055,960 (GRCm39)	P774L	probably damaging	Het
Ranbp17	A	T	11: 33,247,340 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,304,977 (GRCm39)	D770G	possibly damaging	Het
Serac1	A	G	17: 6,101,087 (GRCm39)	L439P	probably damaging	Het
Slitrk6	TTTTAGTCTGTTCTACCAACACCTT	TTT	14: 110,987,257 (GRCm39)		probably null	Het
Sox6	T	C	7: 115,196,744 (GRCm39)	I295M	probably benign	Het
Spata31h1	T	C	10: 82,119,586 (GRCm39)	M4475V	probably benign	Het
Sulf1	T	A	1: 12,929,637 (GRCm39)	D301E	probably benign	Het
Tas2r117	G	A	6: 132,780,014 (GRCm39)	V51I	possibly damaging	Het
Tgfbr1	A	G	4: 47,402,955 (GRCm39)	I320V	probably benign	Het
Tjp3	C	A	10: 81,115,091 (GRCm39)	G396W	probably damaging	Het
Tmprss2	T	C	16: 97,400,460 (GRCm39)	N4D	possibly damaging	Het
Tnfaip3	T	C	10: 18,883,071 (GRCm39)	N165D	probably benign	Het
Tnfrsf21	A	T	17: 43,348,802 (GRCm39)	Y138F	probably benign	Het
Utp4	T	C	8: 107,632,817 (GRCm39)	S267P	probably benign	Het
Wnk1	A	T	6: 119,940,328 (GRCm39)	L803*	probably null	Het
Zbbx	T	A	3: 75,043,794 (GRCm39)	D35V	probably damaging	Het
Zscan12	T	G	13: 21,552,744 (GRCm39)	N189K	possibly damaging	Het

Other mutations in Tbx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02499:Tbx2	APN	11	85,731,739 (GRCm39)	missense	possibly damaging	0.82
R1295:Tbx2	UTSW	11	85,725,592 (GRCm39)	missense	probably damaging	0.97
R1296:Tbx2	UTSW	11	85,725,592 (GRCm39)	missense	probably damaging	0.97
R1384:Tbx2	UTSW	11	85,724,318 (GRCm39)	missense	probably benign	0.01
R1501:Tbx2	UTSW	11	85,725,622 (GRCm39)	missense	probably damaging	1.00
R3949:Tbx2	UTSW	11	85,729,101 (GRCm39)	nonsense	probably null
R4451:Tbx2	UTSW	11	85,731,643 (GRCm39)	missense	probably damaging	1.00
R5214:Tbx2	UTSW	11	85,729,263 (GRCm39)	missense	probably benign	0.02
R5690:Tbx2	UTSW	11	85,727,879 (GRCm39)	missense	probably damaging	1.00
R6186:Tbx2	UTSW	11	85,728,672 (GRCm39)	nonsense	probably null
R7211:Tbx2	UTSW	11	85,725,540 (GRCm39)	missense	probably damaging	1.00
R7353:Tbx2	UTSW	11	85,724,315 (GRCm39)	missense	probably damaging	0.96
R7529:Tbx2	UTSW	11	85,731,727 (GRCm39)	missense	probably benign	0.02
R7573:Tbx2	UTSW	11	85,724,138 (GRCm39)	missense	possibly damaging	0.70
R7626:Tbx2	UTSW	11	85,731,622 (GRCm39)	missense	probably benign	0.00
R7762:Tbx2	UTSW	11	85,726,727 (GRCm39)	missense	probably damaging	1.00
R7996:Tbx2	UTSW	11	85,725,616 (GRCm39)	missense	probably damaging	1.00
R8932:Tbx2	UTSW	11	85,725,533 (GRCm39)	missense	probably damaging	0.98
R9504:Tbx2	UTSW	11	85,724,038 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TCATGTCATTGTCGGGAAGG -3'
(R):5'- GGTGTTCAACTAATGCTCCCC -3'

Sequencing Primer
(F):5'- TCATGTCATTGTCGGGAAGGTAAAG -3'
(R):5'- GGTGTTCAACTAATGCTCCCCTCTAG -3'

Posted On

2019-06-07