Mutagenetix > Incidental Mutation

Incidental Mutation 'R7982:Tbx20'

651275

Institutional Source

Beutler Lab

Gene Symbol

Tbx20

Ensembl Gene

ENSMUSG00000031965

Gene Name

T-box 20

Synonyms

Tbx12, 9430010M06Rik

MMRRC Submission

046023-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7982 (G1)

Quality Score

169.009

Status

Not validated

Chromosome

Chromosomal Location

24632108-24685580 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 24685220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9ES03

Predicted Effect

probably benign
Transcript: ENSMUST00000052946

SMART Domains

Protein: ENSMUSP00000052591
Gene: ENSMUSG00000031965

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 benign
Transcript: ENSMUST00000166018

SMART Domains

Protein: ENSMUSP00000126318
Gene: ENSMUSG00000031965

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,150,284 (GRCm39)	S625P	probably damaging	Het
Actl6b	A	G	5: 137,561,424 (GRCm39)	N142S	probably benign	Het
Ank1	A	T	8: 23,609,397 (GRCm39)	D1363V	probably damaging	Het
Aox4	A	C	1: 58,296,400 (GRCm39)	L1032F	possibly damaging	Het
Atosb	T	C	4: 43,034,483 (GRCm39)	T371A	probably damaging	Het
Bcl2l15	T	C	3: 103,740,158 (GRCm39)	M4T	probably damaging	Het
Cand1	A	T	10: 119,052,378 (GRCm39)	S242R	probably damaging	Het
Cant1	A	T	11: 118,300,968 (GRCm39)	V229D	probably benign	Het
Ccdc117	A	G	11: 5,481,460 (GRCm39)	S224P	possibly damaging	Het
Cdc42ep4	T	C	11: 113,619,402 (GRCm39)	R330G	possibly damaging	Het
Cep164	T	C	9: 45,690,162 (GRCm39)	E527G	probably benign	Het
Cfap58	A	G	19: 47,963,006 (GRCm39)	D472G	probably benign	Het
Cln6	A	C	9: 62,756,450 (GRCm39)	K198T	possibly damaging	Het
Col4a4	G	A	1: 82,549,162 (GRCm39)		probably benign	Het
Cyp1b1	T	C	17: 80,017,919 (GRCm39)	Y412C	probably damaging	Het
Dhx30	A	T	9: 109,914,524 (GRCm39)	L991Q	probably damaging	Het
Dst	C	T	1: 34,221,621 (GRCm39)	T2475I	possibly damaging	Het
Exoc8	A	T	8: 125,623,149 (GRCm39)	V406E	probably damaging	Het
Grk6	T	A	13: 55,599,519 (GRCm39)	C201S	probably damaging	Het
Helz	T	C	11: 107,517,456 (GRCm39)	V664A	possibly damaging	Het
Hsd17b11	A	G	5: 104,151,090 (GRCm39)	C215R	possibly damaging	Het
Ift25	T	C	4: 107,132,480 (GRCm39)	V89A	probably benign	Het
Kbtbd12	T	C	6: 88,595,616 (GRCm39)	I71M	possibly damaging	Het
Khdc1a	A	T	1: 21,421,130 (GRCm39)	H105L	probably benign	Het
Klf6	T	A	13: 5,911,822 (GRCm39)	L62Q	probably damaging	Het
Mc1r	A	G	8: 124,134,879 (GRCm39)	R211G	probably damaging	Het
Nt5m	T	A	11: 59,739,157 (GRCm39)	W68R	possibly damaging	Het
Nufip1	T	C	14: 76,363,679 (GRCm39)	V301A	probably benign	Het
Or10ac1	T	A	6: 42,515,225 (GRCm39)	T244S	probably damaging	Het
Or12d14-ps1	T	G	17: 37,673,502 (GRCm39)	F165V	probably damaging	Het
Or2b7	T	C	13: 21,740,136 (GRCm39)	N19D	probably benign	Het
Or51f5	A	T	7: 102,424,310 (GRCm39)	D193V	probably damaging	Het
Or5ac25	A	G	16: 59,181,927 (GRCm39)	I218T	probably benign	Het
Ostn	T	C	16: 27,140,189 (GRCm39)		probably null	Het
Pcdhb6	C	T	18: 37,467,273 (GRCm39)	R65*	probably null	Het
Pds5b	T	C	5: 150,693,406 (GRCm39)	I706T	probably damaging	Het
Pgm2	T	G	5: 64,258,302 (GRCm39)	Y96D	probably damaging	Het
Pkd1l2	G	A	8: 117,777,926 (GRCm39)	T875I	possibly damaging	Het
Poc1b	A	G	10: 99,000,764 (GRCm39)	S355G	probably benign	Het
Ppp6r1	A	C	7: 4,646,157 (GRCm39)	D181E	probably benign	Het
Pstpip2	G	A	18: 77,967,073 (GRCm39)	V325M	probably benign	Het
Rras2	A	T	7: 113,658,186 (GRCm39)	V92D	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	GTCTTCTTCTTCTTCTTC	GTCTTCTTCTTCTTC	2: 112,499,594 (GRCm39)		probably benign	Het
Stac2	T	A	11: 97,933,379 (GRCm39)	M188L	probably benign	Het
Synrg	G	A	11: 83,910,644 (GRCm39)	D859N	probably damaging	Het
Tarbp1	A	T	8: 127,171,040 (GRCm39)	S987T	probably damaging	Het
Trim30d	G	T	7: 104,121,817 (GRCm39)	N309K	possibly damaging	Het
Ttc16	C	T	2: 32,665,047 (GRCm39)		probably benign	Het
Ttc34	T	A	4: 154,945,875 (GRCm39)	I303N	possibly damaging	Het
Ubr4	T	C	4: 139,155,519 (GRCm39)		probably null	Het
Uros	A	T	7: 133,294,278 (GRCm39)	S168T	unknown	Het
Vmn2r6	C	T	3: 64,467,241 (GRCm39)	G86D	probably damaging	Het
Ybx2	C	T	11: 69,831,448 (GRCm39)	T295I	possibly damaging	Het
Zbed5	T	A	5: 129,929,321 (GRCm39)	C146S	possibly damaging	Het
Zcchc2	G	A	1: 105,958,901 (GRCm39)	C1124Y	probably damaging	Het
Zfp626	G	A	7: 27,510,175 (GRCm39)		probably null	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
R2063:Tbx20	UTSW	9	24,681,067 (GRCm39)	nonsense	probably null
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
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'- ATACTGACTGCCTAGTACCCC -3'
(R):5'- ACAGTTTTGAGTTCCCGGCTG -3'

Sequencing Primer
(F):5'- TAGTACCCCGACTTACCCAGGG -3'
(R):5'- AGTTCCCGGCTGGTCCC -3'

Posted On

2020-09-15