Mutagenetix > Incidental Mutation

Incidental Mutation 'R5898:Tbx20'

457666

Institutional Source

Beutler Lab

Gene Symbol

Tbx20

Ensembl Gene

ENSMUSG00000031965

Gene Name

T-box 20

Synonyms

Tbx12, 9430010M06Rik

MMRRC Submission

044097-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5898 (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 24670155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 226 (Y226F)

Ref Sequence

ENSEMBL: ENSMUSP00000126318 (fasta)

Gene Model

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

AlphaFold

Q9ES03

Predicted Effect

probably damaging
Transcript: ENSMUST00000052946
AA Change: Y226F

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

SMART Domains

Protein: ENSMUSP00000052591
Gene: ENSMUSG00000031965
AA Change: Y226F

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 damaging
Transcript: ENSMUST00000166018
AA Change: Y226F

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

SMART Domains

Protein: ENSMUSP00000126318
Gene: ENSMUSG00000031965
AA Change: Y226F

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

unknown
Transcript: ENSMUST00000215802
AA Change: Y54F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217597

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (86/90)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,448,762 (GRCm39)	R158L	possibly damaging	Het
1700017N19Rik	G	A	10: 100,451,070 (GRCm39)	M179I	probably benign	Het
Abhd12	T	C	2: 150,681,698 (GRCm39)	I231V	possibly damaging	Het
Adsl	A	G	15: 80,845,554 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,991,131 (GRCm39)	N4138K	possibly damaging	Het
Ahnak	T	C	19: 8,995,575 (GRCm39)	S5620P	probably damaging	Het
Akap13	C	T	7: 75,378,894 (GRCm39)	T2145I	probably damaging	Het
Alpk2	T	A	18: 65,440,694 (GRCm39)	Q700L	probably damaging	Het
Apobec1	T	C	6: 122,557,732 (GRCm39)	Y159C	probably damaging	Het
Atg9a	T	C	1: 75,162,916 (GRCm39)	T395A	probably damaging	Het
Atp6v1f	A	G	6: 29,467,957 (GRCm39)	I48V	probably benign	Het
BC051665	A	C	13: 60,930,518 (GRCm39)	V278G	probably damaging	Het
Bicd1	A	T	6: 149,415,201 (GRCm39)	H638L	probably damaging	Het
Cacna2d4	A	G	6: 119,251,192 (GRCm39)	Y460C	probably damaging	Het
Ccdc157	C	A	11: 4,094,538 (GRCm39)	R496L	probably benign	Het
Cdcp3	T	G	7: 130,843,696 (GRCm39)		probably null	Het
Cep44	C	G	8: 56,994,056 (GRCm39)	V174L	probably damaging	Het
Clca3a1	G	T	3: 144,722,522 (GRCm39)	F283L	possibly damaging	Het
Csk	T	C	9: 57,537,585 (GRCm39)	T110A	probably benign	Het
Cspg4	T	A	9: 56,792,506 (GRCm39)		probably null	Het
Cutc	A	G	19: 43,748,468 (GRCm39)	I124V	probably benign	Het
Cyp2d9	A	G	15: 82,339,725 (GRCm39)	T104A	probably benign	Het
Cyp2j9	G	T	4: 96,465,951 (GRCm39)	T294K	probably benign	Het
D630003M21Rik	T	A	2: 158,046,577 (GRCm39)		probably null	Het
Dcaf15	G	T	8: 84,825,081 (GRCm39)	F450L	probably damaging	Het
Ddhd1	A	T	14: 45,840,125 (GRCm39)	I723K	probably damaging	Het
Dnah17	C	T	11: 118,005,039 (GRCm39)	A782T	probably benign	Het
Dnah3	T	C	7: 119,677,724 (GRCm39)	D399G	probably benign	Het
Dync2h1	T	C	9: 7,148,717 (GRCm39)	N909S	probably benign	Het
Erbin	A	G	13: 103,975,813 (GRCm39)		probably null	Het
Fanci	G	A	7: 79,083,069 (GRCm39)	V682I	probably benign	Het
Fap	A	T	2: 62,403,847 (GRCm39)	F9L	probably benign	Het
Fat3	T	C	9: 15,849,757 (GRCm39)	I3882V	probably benign	Het
Fkbp15	A	T	4: 62,244,294 (GRCm39)		probably null	Het
Fsd2	T	C	7: 81,186,975 (GRCm39)	Y601C	probably damaging	Het
Gm5900	T	C	7: 104,599,468 (GRCm39)		noncoding transcript	Het
Gramd4	G	T	15: 85,984,985 (GRCm39)	G82V	probably damaging	Het
Hc	C	T	2: 34,887,449 (GRCm39)	V1352I	probably benign	Het
Hsph1	A	T	5: 149,548,623 (GRCm39)	N466K	probably damaging	Het
Ice2	T	A	9: 69,315,544 (GRCm39)	D133E	probably benign	Het
Ifi213	T	C	1: 173,396,545 (GRCm39)	M510V	probably benign	Het
Itpkb	T	G	1: 180,248,880 (GRCm39)	L861R	probably damaging	Het
Kbtbd3	T	A	9: 4,330,476 (GRCm39)	D283E	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Masp1	T	A	16: 23,310,677 (GRCm39)	I252F	probably damaging	Het
Megf11	G	T	9: 64,593,246 (GRCm39)	C586F	probably damaging	Het
Myh2	C	A	11: 67,083,545 (GRCm39)	A1476E	possibly damaging	Het
Myo18b	A	T	5: 112,950,196 (GRCm39)		probably null	Het
Naip6	A	T	13: 100,435,829 (GRCm39)	V898E	possibly damaging	Het
Nav1	T	C	1: 135,512,884 (GRCm39)	M59V	probably benign	Het
Nlrp3	A	T	11: 59,437,678 (GRCm39)	Y119F	probably benign	Het
Oxa1l	T	A	14: 54,600,758 (GRCm39)	I77N	possibly damaging	Het
Pcdhb8	T	A	18: 37,490,537 (GRCm39)	D738E	possibly damaging	Het
Pdia5	A	T	16: 35,243,335 (GRCm39)	W269R	probably damaging	Het
Peak1	T	A	9: 56,114,622 (GRCm39)	T1440S	probably benign	Het
Piezo1	A	G	8: 123,214,682 (GRCm39)	V1547A	probably benign	Het
Pkp1	T	C	1: 135,810,259 (GRCm39)	Y437C	probably damaging	Het
Pla2r1	T	C	2: 60,253,104 (GRCm39)	D1329G	probably damaging	Het
Ppip5k2	T	C	1: 97,671,887 (GRCm39)		probably benign	Het
Prrg4	C	T	2: 104,675,378 (GRCm39)	S75N	probably benign	Het
Psmb9	T	A	17: 34,401,266 (GRCm39)	I198F	probably damaging	Het
Rcbtb2	T	A	14: 73,399,405 (GRCm39)	L23*	probably null	Het
Sbno1	A	T	5: 124,524,854 (GRCm39)		probably benign	Het
Scn3a	T	C	2: 65,345,039 (GRCm39)	E483G	probably damaging	Het
Sdccag8	T	A	1: 176,652,388 (GRCm39)	D46E	probably benign	Het
Selenov	A	G	7: 27,987,579 (GRCm39)	F293L	probably damaging	Het
Septin2	A	C	1: 93,407,023 (GRCm39)	D20A	probably benign	Het
Shc1	T	A	3: 89,334,274 (GRCm39)	Y313*	probably null	Het
Siglec1	T	A	2: 130,915,553 (GRCm39)	Y1346F	probably damaging	Het
Slc22a5	T	A	11: 53,764,559 (GRCm39)	I296F	probably damaging	Het
Slc9c1	A	G	16: 45,365,123 (GRCm39)	N152S	probably damaging	Het
Smoc1	C	T	12: 81,151,531 (GRCm39)	R83*	probably null	Het
Ssx2ip	A	G	3: 146,133,586 (GRCm39)	D227G	possibly damaging	Het
Tbrg4	T	C	11: 6,567,372 (GRCm39)	D576G	probably damaging	Het
Trav10d	G	T	14: 53,048,929 (GRCm39)	A107S	probably damaging	Het
Trim60	A	T	8: 65,453,016 (GRCm39)	L411*	probably null	Het
Ttbk2	A	T	2: 120,575,521 (GRCm39)	V1083D	probably benign	Het
Unc93a	T	A	17: 13,344,464 (GRCm39)	Q26L	probably damaging	Het
Usp14	T	A	18: 10,022,819 (GRCm39)	N65I	possibly damaging	Het
Vip	A	T	10: 5,593,988 (GRCm39)	S114C	probably damaging	Het
Vmn1r237	A	T	17: 21,534,813 (GRCm39)	I179F	probably damaging	Het
Wdr47	T	A	3: 108,545,201 (GRCm39)		probably null	Het
Zfp975	A	T	7: 42,311,963 (GRCm39)	C217S	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
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
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'- CCTTGTGTGGGAACTGAACTG -3'
(R):5'- TCCTGCCCTCATCATTTTAGAAGG -3'

Sequencing Primer
(F):5'- TGAACTGTCAAGGGCCACTC -3'
(R):5'- CCTCATCATTTTAGAAGGCAGCTTG -3'

Posted On

2017-02-15