Mutagenetix > Incidental Mutation

Incidental Mutation 'R8110:Tbx20'

630813

Institutional Source

Beutler Lab

Gene Symbol

Tbx20

Ensembl Gene

ENSMUSG00000031965

Gene Name

T-box 20

Synonyms

Tbx12, 9430010M06Rik

MMRRC Submission

067539-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24632108-24685580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24636821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 422 (Y422F)

Ref Sequence

ENSEMBL: ENSMUSP00000052591 (fasta)

Gene Model

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

AlphaFold

Q9ES03

Predicted Effect

probably damaging
Transcript: ENSMUST00000052946
AA Change: Y422F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052591
Gene: ENSMUSG00000031965
AA Change: Y422F

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.1%

Validation Efficiency

99% (73/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd45	T	C	1: 160,978,889 (GRCm39)		probably null	Het
Appl1	C	A	14: 26,649,751 (GRCm39)	G592*	probably null	Het
Arfgef2	T	A	2: 166,720,464 (GRCm39)	M1501K	probably benign	Het
Calcrl	C	T	2: 84,169,683 (GRCm39)	A333T	probably damaging	Het
Cd200r3	T	A	16: 44,771,835 (GRCm39)	I33N	probably benign	Het
Ceacam15	A	G	7: 16,407,334 (GRCm39)	L61P	probably benign	Het
Cfap69	T	A	5: 5,632,515 (GRCm39)	H827L	possibly damaging	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Cyp2u1	G	A	3: 131,087,303 (GRCm39)	T426I	probably damaging	Het
Eefsec	A	C	6: 88,353,312 (GRCm39)	I119S	probably damaging	Het
Fem1b	T	C	9: 62,703,550 (GRCm39)	N570S	probably damaging	Het
Fmo9	A	G	1: 166,491,095 (GRCm39)	M461T	probably benign	Het
Fryl	A	G	5: 73,290,620 (GRCm39)	Y95H	probably benign	Het
Fsip2	T	C	2: 82,789,017 (GRCm39)	I346T	probably benign	Het
Fto	T	C	8: 92,211,818 (GRCm39)	F381S	probably damaging	Het
Gabbr1	G	C	17: 37,359,475 (GRCm39)	S150T	probably benign	Het
Galnt9	G	T	5: 110,763,339 (GRCm39)	W448L	probably damaging	Het
Gcnt2	G	T	13: 41,071,198 (GRCm39)		probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd4	A	G	5: 121,471,012 (GRCm39)	Y2633C	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,266 (GRCm39)	I214V	probably damaging	Het
Hspa12a	T	A	19: 58,809,445 (GRCm39)	E217V	possibly damaging	Het
Itih2	A	G	2: 10,101,948 (GRCm39)	F845L	probably damaging	Het
Kcnn3	T	A	3: 89,568,540 (GRCm39)	L606H	probably damaging	Het
Krt6b	G	A	15: 101,588,577 (GRCm39)	R28C	probably damaging	Het
Lama2	T	A	10: 26,866,866 (GRCm39)	D2876V	probably damaging	Het
Lmbrd2	T	C	15: 9,175,279 (GRCm39)	S397P	probably damaging	Het
Lmf2	C	T	15: 89,236,561 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,336,797 (GRCm39)	I1325T	probably benign	Het
Ltbp2	A	T	12: 84,850,676 (GRCm39)	C879*	probably null	Het
Map3k1	A	G	13: 111,891,847 (GRCm39)	V1136A	probably damaging	Het
Mettl3	G	T	14: 52,537,709 (GRCm39)	H84N	probably benign	Het
Mia2	A	G	12: 59,155,873 (GRCm39)		probably null	Het
Mlip	G	T	9: 77,146,861 (GRCm39)	T92K	probably damaging	Het
Nalcn	T	A	14: 123,702,113 (GRCm39)	Y466F	probably benign	Het
Nav2	T	A	7: 49,201,698 (GRCm39)	L235*	probably null	Het
Nbn	T	C	4: 15,981,588 (GRCm39)	V560A	probably benign	Het
Ncln	A	T	10: 81,328,987 (GRCm39)	Y144N	possibly damaging	Het
Nfe2l2	A	C	2: 75,509,765 (GRCm39)	D18E	probably benign	Het
Or10aa3	G	A	1: 173,878,091 (GRCm39)	A51T	probably benign	Het
Or12d2	A	G	17: 37,624,604 (GRCm39)	F224L	probably benign	Het
Or1ak2	T	C	2: 36,827,721 (GRCm39)	C197R	possibly damaging	Het
Or5w11	T	C	2: 87,458,951 (GRCm39)	I48T	possibly damaging	Het
Otop3	A	T	11: 115,230,221 (GRCm39)	M33L	probably benign	Het
Pate7	T	C	9: 35,689,329 (GRCm39)	*84W	probably null	Het
Pdzd2	G	A	15: 12,373,592 (GRCm39)	S2181L	probably benign	Het
Phf14	T	C	6: 11,953,422 (GRCm39)	I387T	possibly damaging	Het
Prb1c	C	T	6: 132,338,531 (GRCm39)	G229D	unknown	Het
Prdm9	T	A	17: 15,774,960 (GRCm39)	N318Y	probably damaging	Het
Proca1	A	G	11: 78,095,737 (GRCm39)	D123G	probably damaging	Het
Prune2	G	A	19: 17,098,083 (GRCm39)	G1196S	probably benign	Het
Psd3	T	A	8: 68,573,708 (GRCm39)	S158C	probably damaging	Het
Rps18	A	G	17: 34,174,110 (GRCm39)	V15A	probably benign	Het
Sanbr	G	T	11: 23,526,764 (GRCm39)	T696N	probably benign	Het
Sharpin	C	A	15: 76,231,965 (GRCm39)	R271L	possibly damaging	Het
Smad5	C	A	13: 56,871,701 (GRCm39)	Q99K	probably damaging	Het
Sox5	T	C	6: 144,062,200 (GRCm39)	M151V	possibly damaging	Het
Sphkap	A	T	1: 83,256,492 (GRCm39)	F419Y	possibly damaging	Het
Tcirg1	A	C	19: 3,949,099 (GRCm39)	F397V	probably damaging	Het
Tex36	G	A	7: 133,197,012 (GRCm39)	S35F	possibly damaging	Het
Tsen54	G	T	11: 115,705,760 (GRCm39)	A26S	unknown	Het
Usp50	T	A	2: 126,622,250 (GRCm39)		probably null	Het
Vmn2r5	A	T	3: 64,398,709 (GRCm39)	F757I	probably benign	Het
Zbbx	T	C	3: 75,062,749 (GRCm39)	T3A	possibly damaging	Het
Zfp28	T	A	7: 6,392,828 (GRCm39)	M168K	probably benign	Het
Zfp568	G	T	7: 29,722,551 (GRCm39)	G499W	probably damaging	Het
Zfp7	C	G	15: 76,775,131 (GRCm39)	P391R	possibly damaging	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
R7982:Tbx20	UTSW	9	24,685,220 (GRCm39)	unclassified	probably benign
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'- CCTGTGTTTCCTGGAGAGTC -3'
(R):5'- CCTGGATTTCAGCATCCACAG -3'

Sequencing Primer
(F):5'- GGAGAGTCCTTGCTCCAATAC -3'
(R):5'- AGCCCCTGACTGCTCTTGG -3'

Posted On

2020-06-30