Mutagenetix > Incidental Mutation

Incidental Mutation 'R2063:Tbx20'

228861

Institutional Source

Beutler Lab

Gene Symbol

Tbx20

Ensembl Gene

ENSMUSG00000031965

Gene Name

T-box 20

Synonyms

Tbx12, 9430010M06Rik

MMRRC Submission

040068-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24632108-24685580 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 24681067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 142 (E142*)

Ref Sequence

ENSEMBL: ENSMUSP00000126318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052946] [ENSMUST00000166018]

AlphaFold

Q9ES03

Predicted Effect

probably null
Transcript: ENSMUST00000052946
AA Change: E142*

SMART Domains

Protein: ENSMUSP00000052591
Gene: ENSMUSG00000031965
AA Change: E142*

Domain	Start	End	E-Value	Type
low complexity region	68	78	N/A	INTRINSIC
low complexity region	81	95	N/A	INTRINSIC
TBOX	98	292	1.08e-122	SMART
low complexity region	339	353	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000166018
AA Change: E142*

SMART Domains

Protein: ENSMUSP00000126318
Gene: ENSMUSG00000031965
AA Change: E142*

Domain	Start	End	E-Value	Type
low complexity region	68	78	N/A	INTRINSIC
low complexity region	81	95	N/A	INTRINSIC
TBOX	98	292	1.08e-122	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000215802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217597

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice display embryonic lethality, impaired cardiac looping, a small hourglass shaped heart, and decreased cardiomyocyte proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Abca15	A	T	7: 119,960,127 (GRCm39)	T637S	possibly damaging	Het
Adgrv1	T	C	13: 81,709,588 (GRCm39)	K1135R	possibly damaging	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
AI467606	A	G	7: 126,692,009 (GRCm39)	S195G	probably damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cic	T	A	7: 24,972,876 (GRCm39)	V869E	probably damaging	Het
Cpsf2	A	G	12: 101,949,722 (GRCm39)	D118G	probably damaging	Het
Csnk1g1	A	G	9: 65,909,512 (GRCm39)	S210G	probably damaging	Het
Cyp2c40	T	A	19: 39,775,224 (GRCm39)	M343L	probably benign	Het
Cyp4a12b	A	T	4: 115,290,700 (GRCm39)	D274V	possibly damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah3	C	T	7: 119,551,132 (GRCm39)	M3062I	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Elavl2	A	T	4: 91,141,687 (GRCm39)	S278R	possibly damaging	Het
Emilin2	T	C	17: 71,581,950 (GRCm39)	S259G	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Faim2	G	A	15: 99,412,314 (GRCm39)	T140I	probably damaging	Het
Fbxo21	T	C	5: 118,115,031 (GRCm39)	S56P	probably benign	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Foxj2	A	T	6: 122,817,200 (GRCm39)	H509L	probably benign	Het
Fth1	T	A	19: 9,961,576 (GRCm39)	L49Q	probably damaging	Het
Gbp11	C	A	5: 105,476,450 (GRCm39)	E220*	probably null	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm1527	C	A	3: 28,980,796 (GRCm39)	T632N	probably benign	Het
Gm4787	A	T	12: 81,425,694 (GRCm39)	S155T	probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Helb	T	C	10: 119,941,671 (GRCm39)	Y339C	probably benign	Het
Hs3st4	A	G	7: 123,996,236 (GRCm39)	I301V	probably benign	Het
Hunk	A	G	16: 90,290,368 (GRCm39)	D382G	probably damaging	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il10	T	C	1: 130,947,770 (GRCm39)	L41P	probably damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Krt90	T	C	15: 101,466,794 (GRCm39)	E263G	probably benign	Het
Lama2	C	T	10: 27,040,922 (GRCm39)	C1467Y	probably damaging	Het
Maco1	A	T	4: 134,555,590 (GRCm39)	N294K	possibly damaging	Het
Med24	A	G	11: 98,606,472 (GRCm39)	L330P	probably damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Mtcl1	T	C	17: 66,653,350 (GRCm39)	R1065G	probably damaging	Het
Mtmr14	G	A	6: 113,217,322 (GRCm39)	G38D	probably damaging	Het
Mtus1	T	C	8: 41,535,745 (GRCm39)	E657G	probably damaging	Het
Muc21	T	A	17: 35,932,297 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,189,150 (GRCm39)	Q1020L	probably benign	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nckap1	T	C	2: 80,400,494 (GRCm39)	K69R	probably damaging	Het
Nlrp1b	T	C	11: 71,051,912 (GRCm39)	N1012D	probably benign	Het
Ntrk2	A	C	13: 59,007,111 (GRCm39)	K238Q	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or52n2b	T	C	7: 104,565,982 (GRCm39)	N174D	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pfpl	C	T	19: 12,407,237 (GRCm39)	S496L	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pkhd1l1	A	T	15: 44,414,148 (GRCm39)	H2805L	possibly damaging	Het
Pla2g4a	T	C	1: 149,716,427 (GRCm39)	N678S	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Polr1a	T	G	6: 71,913,269 (GRCm39)		probably null	Het
Prl3d3	A	C	13: 27,346,304 (GRCm39)	E180D	probably benign	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Prpf3	A	T	3: 95,751,551 (GRCm39)	D383E	probably benign	Het
Psmc4	A	T	7: 27,748,322 (GRCm39)	L73H	probably damaging	Het
Rapgef3	C	A	15: 97,664,842 (GRCm39)	G7V	probably damaging	Het
Rasl12	G	A	9: 65,318,106 (GRCm39)	G157R	probably damaging	Het
Rnf38	A	C	4: 44,149,098 (GRCm39)	V83G	probably damaging	Het
Rnls	A	C	19: 33,179,944 (GRCm39)	S51A	probably benign	Het
Siglecf	A	G	7: 43,001,804 (GRCm39)	T205A	possibly damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc12a5	C	T	2: 164,839,067 (GRCm39)	R1072W	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Specc1	T	G	11: 62,009,122 (GRCm39)	S293A	probably benign	Het
Speer2	T	G	16: 69,657,385 (GRCm39)	Q86P	probably benign	Het
Tbc1d15	T	C	10: 115,065,078 (GRCm39)	D169G	probably benign	Het
Tcp1	T	A	17: 13,139,699 (GRCm39)	L199H	probably damaging	Het
Tex26	A	T	5: 149,363,204 (GRCm39)	R5W	probably damaging	Het
Tg	C	A	15: 66,700,402 (GRCm39)	A120E	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Vps54	C	T	11: 21,227,955 (GRCm39)	T176I	probably damaging	Het
Wdr95	T	C	5: 149,502,627 (GRCm39)		probably null	Het
Zfp81	T	C	17: 33,554,278 (GRCm39)	T179A	probably benign	Het

Other mutations in Tbx20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Tbx20	APN	9	24,670,044 (GRCm39)	missense	probably damaging	1.00
IGL00572:Tbx20	APN	9	24,636,984 (GRCm39)	missense	probably benign
IGL01016:Tbx20	APN	9	24,661,617 (GRCm39)	missense	probably damaging	1.00
IGL01317:Tbx20	APN	9	24,681,051 (GRCm39)	missense	probably damaging	1.00
IGL02643:Tbx20	APN	9	24,685,009 (GRCm39)	unclassified	probably benign
IGL02690:Tbx20	APN	9	24,685,033 (GRCm39)	missense	probably benign	0.27
BB006:Tbx20	UTSW	9	24,637,059 (GRCm39)	missense	possibly damaging	0.86
BB016:Tbx20	UTSW	9	24,637,059 (GRCm39)	missense	possibly damaging	0.86
R0853:Tbx20	UTSW	9	24,636,908 (GRCm39)	missense	probably benign	0.05
R0855:Tbx20	UTSW	9	24,636,908 (GRCm39)	missense	probably benign	0.05
R0856:Tbx20	UTSW	9	24,636,908 (GRCm39)	missense	probably benign	0.05
R1781:Tbx20	UTSW	9	24,636,795 (GRCm39)	missense	probably benign	0.00
R1840:Tbx20	UTSW	9	24,636,972 (GRCm39)	missense	probably benign	0.22
R1981:Tbx20	UTSW	9	24,682,209 (GRCm39)	missense	possibly damaging	0.85
R2357:Tbx20	UTSW	9	24,681,072 (GRCm39)	missense	possibly damaging	0.56
R4166:Tbx20	UTSW	9	24,681,040 (GRCm39)	missense	probably damaging	1.00
R4790:Tbx20	UTSW	9	24,637,010 (GRCm39)	missense	probably benign	0.34
R4904:Tbx20	UTSW	9	24,670,129 (GRCm39)	missense	probably damaging	0.98
R5436:Tbx20	UTSW	9	24,681,016 (GRCm39)	missense	probably damaging	1.00
R5799:Tbx20	UTSW	9	24,636,816 (GRCm39)	nonsense	probably null
R5898:Tbx20	UTSW	9	24,670,155 (GRCm39)	missense	probably damaging	1.00
R6914:Tbx20	UTSW	9	24,636,779 (GRCm39)	missense	probably benign	0.19
R6962:Tbx20	UTSW	9	24,681,036 (GRCm39)	missense	probably damaging	1.00
R7556:Tbx20	UTSW	9	24,661,573 (GRCm39)	splice site	probably null
R7731:Tbx20	UTSW	9	24,681,993 (GRCm39)	missense	probably damaging	1.00
R7741:Tbx20	UTSW	9	24,651,581 (GRCm39)	splice site	probably null
R7832:Tbx20	UTSW	9	24,685,108 (GRCm39)	missense	probably damaging	1.00
R7929:Tbx20	UTSW	9	24,637,059 (GRCm39)	missense	possibly damaging	0.86
R7982:Tbx20	UTSW	9	24,685,220 (GRCm39)	unclassified	probably benign
R8110:Tbx20	UTSW	9	24,636,821 (GRCm39)	missense	probably damaging	1.00
R8974:Tbx20	UTSW	9	24,681,082 (GRCm39)	missense	probably damaging	1.00
R9058:Tbx20	UTSW	9	24,681,019 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTGGCCAGAATCCGATG -3'
(R):5'- TGTGGGCACATCTTTCATAAAC -3'

Sequencing Primer
(F):5'- CTGGCCAGAATCCGATGTTTTAAAAC -3'
(R):5'- GTGGGCACATCTTTCATAAACAAAAC -3'

Posted On

2014-09-17