Mutagenetix > Incidental Mutation

Incidental Mutation 'R0477:Tbx5'

41846

Institutional Source

Beutler Lab

Gene Symbol

Tbx5

Ensembl Gene

ENSMUSG00000018263

Gene Name

T-box 5

Synonyms

MMRRC Submission

038677-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R0477 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

119970733-120023284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120021184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 397 (S397G)

Ref Sequence

ENSEMBL: ENSMUSP00000018407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018407]

AlphaFold

P70326

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018407
AA Change: S397G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018407
Gene: ENSMUSG00000018263
AA Change: S397G

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
TBOX	53	243	9.61e-129	SMART
low complexity region	381	392	N/A	INTRINSIC

Meta Mutation Damage Score

0.0873

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Heterozygous null mice exhibit strain-dependent perinatal lethality, forelimb and variable congenital heart malformations, whereas homozygous null mice are growth arrested and die by E10.5 of severe heart defects. Hypomorphic mutants show milder defects both in the hetero- and homozygous null state. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	T	11: 117,693,787 (GRCm39)	I85F	probably benign	Het
Abca8a	T	A	11: 109,956,051 (GRCm39)	I778L	probably benign	Het
Abcc5	T	C	16: 20,187,319 (GRCm39)	N889S	possibly damaging	Het
Abcc5	T	C	16: 20,217,635 (GRCm39)	N359D	probably damaging	Het
Adam23	A	G	1: 63,596,559 (GRCm39)		probably benign	Het
Adamts3	A	T	5: 89,832,366 (GRCm39)	D913E	probably benign	Het
Ap1b1	G	T	11: 4,981,787 (GRCm39)	C538F	probably benign	Het
Ash1l	T	A	3: 88,890,766 (GRCm39)	S882T	probably benign	Het
C9	A	T	15: 6,487,664 (GRCm39)	E43D	probably benign	Het
Cacna2d1	T	C	5: 16,399,796 (GRCm39)		probably null	Het
Ces2a	A	G	8: 105,464,169 (GRCm39)	E267G	probably damaging	Het
Cfap61	A	G	2: 145,781,836 (GRCm39)	D23G	probably damaging	Het
Col9a3	T	G	2: 180,251,263 (GRCm39)		probably benign	Het
Cstl1	T	C	2: 148,592,908 (GRCm39)	V21A	probably benign	Het
Cth	A	T	3: 157,610,812 (GRCm39)	L340Q	probably damaging	Het
Dnah8	T	A	17: 30,974,054 (GRCm39)	M2813K	probably damaging	Het
Fam107a	A	T	14: 8,301,168 (GRCm38)	Y21N	probably benign	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Fer1l4	A	G	2: 155,894,806 (GRCm39)	V21A	probably benign	Het
Foxc2	A	T	8: 121,844,774 (GRCm39)	Y474F	probably damaging	Het
Hnf4g	G	T	3: 3,716,851 (GRCm39)		probably benign	Het
Hnrnpll	T	C	17: 80,369,261 (GRCm39)	D54G	unknown	Het
Hydin	A	G	8: 111,145,130 (GRCm39)	Y827C	probably damaging	Het
Il23r	A	G	6: 67,429,361 (GRCm39)	V327A	probably benign	Het
Itih4	T	A	14: 30,611,631 (GRCm39)	V118D	probably damaging	Het
Kmt2d	G	A	15: 98,751,462 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,376,268 (GRCm39)	D1546G	possibly damaging	Het
Large1	A	T	8: 73,544,710 (GRCm39)	D689E	probably damaging	Het
Map1a	T	C	2: 121,132,582 (GRCm39)	S895P	probably damaging	Het
Mdn1	A	C	4: 32,750,928 (GRCm39)	E4487A	probably benign	Het
Myo15a	T	C	11: 60,411,740 (GRCm39)		probably null	Het
Nlrp4f	C	A	13: 65,338,720 (GRCm39)	R639L	probably benign	Het
Or4f52	A	G	2: 111,062,009 (GRCm39)	F43S	probably benign	Het
Or8h10	T	A	2: 86,808,567 (GRCm39)	D191V	probably damaging	Het
Pcdh9	T	C	14: 94,125,114 (GRCm39)	N229S	probably damaging	Het
Pcnx2	A	G	8: 126,488,306 (GRCm39)	V1746A	probably damaging	Het
Phf12	A	T	11: 77,913,896 (GRCm39)	H446L	possibly damaging	Het
Phlpp2	A	G	8: 110,622,138 (GRCm39)		probably null	Het
Psmb9	A	C	17: 34,401,238 (GRCm39)	V207G	probably damaging	Het
Ptprh	C	A	7: 4,600,997 (GRCm39)	D127Y	possibly damaging	Het
Rabep1	T	G	11: 70,811,733 (GRCm39)	M535R	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scin	T	C	12: 40,110,515 (GRCm39)	D711G	probably damaging	Het
Slfn4	T	C	11: 83,079,507 (GRCm39)	I6T	probably benign	Het
Sos1	T	A	17: 80,742,363 (GRCm39)	E388V	possibly damaging	Het
Spag5	A	C	11: 78,205,024 (GRCm39)	Q603P	probably damaging	Het
Supv3l1	G	T	10: 62,266,364 (GRCm39)	T604N	probably damaging	Het
Tmprss5	A	G	9: 49,026,465 (GRCm39)	D383G	possibly damaging	Het
Trim43b	A	G	9: 88,972,654 (GRCm39)	W167R	probably damaging	Het
Unc80	A	T	1: 66,609,160 (GRCm39)	D1283V	probably damaging	Het
Upf1	A	T	8: 70,786,730 (GRCm39)	V918D	probably benign	Het
Vmn2r100	A	G	17: 19,742,776 (GRCm39)	I383M	probably benign	Het
Zc3h3	G	T	15: 75,648,932 (GRCm39)	S733R	possibly damaging	Het
Zcchc2	C	T	1: 105,958,000 (GRCm39)	P426S	possibly damaging	Het
Zkscan7	A	G	9: 122,719,874 (GRCm39)		probably null	Het

Other mutations in Tbx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Tbx5	APN	5	120,021,091 (GRCm39)	missense	probably benign
IGL01595:Tbx5	APN	5	119,978,903 (GRCm39)	missense	probably damaging	1.00
IGL01758:Tbx5	APN	5	119,983,023 (GRCm39)	unclassified	probably benign
IGL02239:Tbx5	APN	5	120,009,345 (GRCm39)	missense	possibly damaging	0.68
IGL02625:Tbx5	APN	5	119,974,972 (GRCm39)	utr 5 prime	probably benign
IGL03326:Tbx5	APN	5	120,009,363 (GRCm39)	missense	probably damaging	0.99
R0485:Tbx5	UTSW	5	120,021,523 (GRCm39)	missense	probably benign	0.00
R1218:Tbx5	UTSW	5	119,976,785 (GRCm39)	missense	probably damaging	1.00
R1756:Tbx5	UTSW	5	119,983,178 (GRCm39)	splice site	probably null
R2011:Tbx5	UTSW	5	119,979,971 (GRCm39)	splice site	probably null
R2125:Tbx5	UTSW	5	119,974,988 (GRCm39)	missense	probably benign
R2126:Tbx5	UTSW	5	119,974,988 (GRCm39)	missense	probably benign
R2268:Tbx5	UTSW	5	119,983,174 (GRCm39)	splice site	probably null
R2302:Tbx5	UTSW	5	119,979,924 (GRCm39)	missense	probably damaging	1.00
R4693:Tbx5	UTSW	5	119,979,964 (GRCm39)	missense	probably damaging	1.00
R4930:Tbx5	UTSW	5	120,021,090 (GRCm39)	missense	probably benign	0.44
R5062:Tbx5	UTSW	5	119,974,987 (GRCm39)	missense	probably damaging	0.99
R5245:Tbx5	UTSW	5	120,021,230 (GRCm39)	missense	possibly damaging	0.95
R6067:Tbx5	UTSW	5	120,021,211 (GRCm39)	missense	probably benign
R6079:Tbx5	UTSW	5	120,021,211 (GRCm39)	missense	probably benign
R6138:Tbx5	UTSW	5	120,021,211 (GRCm39)	missense	probably benign
R6218:Tbx5	UTSW	5	119,991,663 (GRCm39)	missense	probably damaging	1.00
R6528:Tbx5	UTSW	5	120,021,176 (GRCm39)	missense	probably damaging	0.97
R6700:Tbx5	UTSW	5	120,009,462 (GRCm39)	missense	probably benign	0.30
R6993:Tbx5	UTSW	5	120,009,454 (GRCm39)	missense	possibly damaging	0.75
R7777:Tbx5	UTSW	5	120,021,232 (GRCm39)	missense	probably benign	0.00
R7801:Tbx5	UTSW	5	119,975,064 (GRCm39)	missense	probably benign	0.44
R8056:Tbx5	UTSW	5	119,991,678 (GRCm39)	missense	probably benign
R8772:Tbx5	UTSW	5	119,976,790 (GRCm39)	missense	probably benign	0.02
R9706:Tbx5	UTSW	5	119,979,909 (GRCm39)	missense	probably benign	0.42
U15987:Tbx5	UTSW	5	120,021,211 (GRCm39)	missense	probably benign
X0028:Tbx5	UTSW	5	119,983,184 (GRCm39)	critical splice donor site	probably null
Z1176:Tbx5	UTSW	5	120,021,380 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGGCTTAAAACTCACAGCCCGAGG -3'
(R):5'- TGAGGTCTGGTGCTGAAACATCCC -3'

Sequencing Primer
(F):5'- GAGCTGATAGCCTCTATTCTCAGG -3'
(R):5'- GTGCTGAAACATCCCTTCGC -3'

Posted On

2013-05-23