Mutagenetix > Incidental Mutation

Incidental Mutation 'R2357:Tbx20'

247444

Institutional Source

Beutler Lab

Gene Symbol

Tbx20

Ensembl Gene

ENSMUSG00000031965

Gene Name

T-box 20

Synonyms

Tbx12, 9430010M06Rik

MMRRC Submission

040339-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24632108-24685580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24681072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 140 (D140V)

Ref Sequence

ENSEMBL: ENSMUSP00000126318 (fasta)

Gene Model

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

AlphaFold

Q9ES03

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052946
AA Change: D140V

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052591
Gene: ENSMUSG00000031965
AA Change: D140V

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

possibly damaging
Transcript: ENSMUST00000166018
AA Change: D140V

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126318
Gene: ENSMUSG00000031965
AA Change: D140V

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

Meta Mutation Damage Score

0.7706

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,569,844 (GRCm39)	T520K	possibly damaging	Het
Abca13	T	C	11: 9,247,336 (GRCm39)	L2361P	probably damaging	Het
Acsl6	T	A	11: 54,218,106 (GRCm39)	M248K	probably damaging	Het
Adam11	G	T	11: 102,665,334 (GRCm39)	V467L	probably benign	Het
Afap1	C	T	5: 36,141,618 (GRCm39)	H501Y	probably damaging	Het
Ankrd28	A	T	14: 31,486,251 (GRCm39)	Y22*	probably null	Het
Ccdc124	A	T	8: 71,321,179 (GRCm39)	L187Q	probably damaging	Het
Cdc42bpa	G	A	1: 179,894,792 (GRCm39)	S324N	possibly damaging	Het
Cgnl1	T	A	9: 71,632,950 (GRCm39)	K134*	probably null	Het
Cnpy3	G	T	17: 47,062,909 (GRCm39)	S47R	probably damaging	Het
Cpne8	A	T	15: 90,503,877 (GRCm39)	L96Q	probably damaging	Het
Crisp3	A	T	17: 40,533,396 (GRCm39)	Y212N	probably damaging	Het
Cryba1	A	T	11: 77,613,427 (GRCm39)		probably benign	Het
Cyc1	A	G	15: 76,229,766 (GRCm39)	M288V	possibly damaging	Het
Dnah8	T	A	17: 30,990,846 (GRCm39)	D3296E	probably benign	Het
Dnah8	A	G	17: 31,093,909 (GRCm39)	T4668A	probably benign	Het
Dnajb6	T	A	5: 29,958,638 (GRCm39)	F113I	probably damaging	Het
Dync2h1	A	G	9: 7,081,053 (GRCm39)	I2881T	probably benign	Het
Eps8l1	T	C	7: 4,473,354 (GRCm39)	S179P	probably benign	Het
Esco2	C	A	14: 66,064,000 (GRCm39)	A395S	probably benign	Het
Evi5l	T	C	8: 4,243,113 (GRCm39)		probably benign	Het
Exoc6b	T	C	6: 84,966,321 (GRCm39)	T218A	possibly damaging	Het
Gde1	A	T	7: 118,290,814 (GRCm39)	F170L	probably benign	Het
Ggt5	A	C	10: 75,445,075 (GRCm39)	I361L	probably benign	Het
Golga3	C	T	5: 110,350,514 (GRCm39)	T683M	probably damaging	Het
Golgb1	A	G	16: 36,732,370 (GRCm39)	Q539R	probably damaging	Het
Grm2	A	G	9: 106,524,780 (GRCm39)	V645A	probably damaging	Het
Gtf2h4	A	T	17: 35,978,891 (GRCm39)	V408D	probably damaging	Het
Gucy1a2	A	T	9: 3,797,299 (GRCm39)	H583L	probably damaging	Het
Hivep2	C	T	10: 14,019,043 (GRCm39)	A1938V	probably benign	Het
Iars1	T	C	13: 49,841,679 (GRCm39)	Y56H	probably damaging	Het
Il17re	A	G	6: 113,445,431 (GRCm39)	I381V	possibly damaging	Het
Klrd1	T	A	6: 129,573,872 (GRCm39)	*71K	probably null	Het
Kng1	A	T	16: 22,897,815 (GRCm39)	Y405F	possibly damaging	Het
Kptn	G	T	7: 15,859,709 (GRCm39)	C311F	probably damaging	Het
Lama5	T	C	2: 179,821,890 (GRCm39)	I2982V	probably benign	Het
Mamstr	G	T	7: 45,291,754 (GRCm39)	D35Y	probably damaging	Het
Mdc1	A	G	17: 36,158,337 (GRCm39)	D239G	probably benign	Het
Mindy3	T	G	2: 12,408,987 (GRCm39)		probably benign	Het
Mrpl39	A	T	16: 84,524,452 (GRCm39)	H204Q	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo5a	T	A	9: 75,108,647 (GRCm39)	M1476K	probably damaging	Het
Nol4	A	G	18: 23,172,967 (GRCm39)	S45P	probably benign	Het
Nol8	T	C	13: 49,807,980 (GRCm39)		probably null	Het
Or4f61	A	G	2: 111,922,743 (GRCm39)	I101T	possibly damaging	Het
Or5d18	A	T	2: 87,865,028 (GRCm39)	W152R	probably damaging	Het
Or6c207	C	A	10: 129,104,642 (GRCm39)	K183N	probably benign	Het
Or8b56	T	C	9: 38,739,634 (GRCm39)	S216P	probably benign	Het
Plau	T	A	14: 20,888,683 (GRCm39)	V100D	probably damaging	Het
Plpp7	T	C	2: 31,999,654 (GRCm39)	V6A	probably benign	Het
Prr14	T	C	7: 127,074,535 (GRCm39)	S356P	probably benign	Het
Rabl3	A	G	16: 37,362,293 (GRCm39)	D44G	probably null	Het
Rasa4	T	C	5: 136,120,101 (GRCm39)	V59A	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rictor	A	T	15: 6,813,043 (GRCm39)	N932I	probably damaging	Het
Rpl9-ps6	A	G	19: 32,443,743 (GRCm39)	V70A	probably benign	Het
S100a7l2	A	T	3: 90,995,733 (GRCm39)	S56R	probably benign	Het
St3gal1	A	G	15: 66,985,631 (GRCm39)	Y8H	probably benign	Het
Strn	G	A	17: 78,963,028 (GRCm39)	T745I	probably damaging	Het
Tbx15	C	T	3: 99,223,672 (GRCm39)		probably null	Het
Ttn	A	C	2: 76,666,923 (GRCm39)	Y42*	probably null	Het
Usp9y	G	A	Y: 1,394,050 (GRCm39)	T560I	possibly damaging	Het
Vmn2r111	A	G	17: 22,778,151 (GRCm39)		probably benign	Het
Vps13d	GG	GGGGGG	4: 144,801,547 (GRCm39)		probably null	Het
Wfdc12	A	T	2: 164,032,170 (GRCm39)	I40N	probably damaging	Het
Zfp78	G	A	7: 6,382,056 (GRCm39)	G369R	probably 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
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'- TTTTCTGGCCAGAATCCGATG -3'
(R):5'- TGTGGGCACATCTTTCATAAAC -3'

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

Posted On

2014-11-11