Mutagenetix > Incidental Mutation

Incidental Mutation 'R2268:Tbx5'

242224

Institutional Source

Beutler Lab

Gene Symbol

Tbx5

Ensembl Gene

ENSMUSG00000018263

Gene Name

T-box 5

Synonyms

MMRRC Submission

040268-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R2268 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119970733-120023284 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 119983174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018407] [ENSMUST00000202504] [ENSMUST00000202723]

AlphaFold

P70326

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018407
AA Change: N219Y

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018407
Gene: ENSMUSG00000018263
AA Change: N219Y

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

Predicted Effect

probably null
Transcript: ENSMUST00000202504

SMART Domains

Protein: ENSMUSP00000143828
Gene: ENSMUSG00000018263

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
TBOX	53	218	6.3e-100	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202723

SMART Domains

Protein: ENSMUSP00000144418
Gene: ENSMUSG00000018263

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
TBOX	53	120	3.1e-9	SMART

Meta Mutation Damage Score

0.8179

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	T	14: 8,253,496 (GRCm38)	M217K	probably damaging	Het
Adam34	C	T	8: 44,103,647 (GRCm39)	R666H	probably benign	Het
Adap2	G	T	11: 80,056,552 (GRCm39)	Q188H	probably damaging	Het
Adgrb3	T	C	1: 25,150,898 (GRCm39)	T872A	possibly damaging	Het
Ahnak	A	G	19: 8,987,938 (GRCm39)	K3074R	possibly damaging	Het
Ano7	A	T	1: 93,308,161 (GRCm39)	D64V	possibly damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Arl13a	A	G	X: 133,106,162 (GRCm39)	Q236R	possibly damaging	Het
Astn1	T	C	1: 158,329,669 (GRCm39)	Y175H	probably damaging	Het
Atn1	C	G	6: 124,723,203 (GRCm39)		probably benign	Het
Ccser1	C	T	6: 61,547,827 (GRCm39)	T118M	probably damaging	Het
Cenpe	A	G	3: 134,967,397 (GRCm39)	T2180A	probably benign	Het
Col17a1	G	A	19: 47,638,550 (GRCm39)	P1173S	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyp4f17	G	T	17: 32,736,928 (GRCm39)	V87F	probably benign	Het
D2hgdh	C	T	1: 93,763,157 (GRCm39)	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dhodh	A	G	8: 110,321,306 (GRCm39)	F360S	possibly damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dynap	C	T	18: 70,374,218 (GRCm39)	A103T	probably benign	Het
Edem2	G	A	2: 155,544,137 (GRCm39)	P538S	probably benign	Het
Egfl8	C	T	17: 34,832,832 (GRCm39)	V253M	probably damaging	Het
Erich6	A	T	3: 58,526,260 (GRCm39)	S581T	probably benign	Het
Fam117b	T	C	1: 59,952,789 (GRCm39)	L156P	probably damaging	Het
Fbn1	G	T	2: 125,163,661 (GRCm39)	A2065E	possibly damaging	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Fzd9	A	G	5: 135,279,148 (GRCm39)	S246P	probably damaging	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hmcn1	A	G	1: 150,500,349 (GRCm39)		probably benign	Het
Hps3	G	A	3: 20,067,099 (GRCm39)		probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Irs2	T	C	8: 11,057,586 (GRCm39)	E282G	probably damaging	Het
Itih4	A	G	14: 30,614,385 (GRCm39)	D445G	probably damaging	Het
Kif14	T	A	1: 136,447,486 (GRCm39)	C1430*	probably null	Het
Kir3dl1	A	G	X: 135,425,784 (GRCm39)	R53G	probably benign	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lamb1	A	T	12: 31,377,644 (GRCm39)	I1630F	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mink1	G	A	11: 70,492,550 (GRCm39)		probably null	Het
Mmrn2	A	G	14: 34,121,449 (GRCm39)	K773R	probably benign	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtbp	G	A	15: 55,432,556 (GRCm39)		probably null	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Myoc	C	T	1: 162,476,625 (GRCm39)	T443M	probably damaging	Het
Nav1	A	T	1: 135,399,974 (GRCm39)	L532*	probably null	Het
Nbeal1	T	A	1: 60,370,037 (GRCm39)		probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Opcml	T	C	9: 28,814,651 (GRCm39)	I301T	possibly damaging	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or8b1	T	A	9: 38,399,504 (GRCm39)	Y60N	probably damaging	Het
Pappa2	A	G	1: 158,684,841 (GRCm39)	M766T	probably damaging	Het
Phf8	T	C	X: 150,355,597 (GRCm39)	L520S	possibly damaging	Het
Phka1	A	G	X: 101,584,716 (GRCm39)		probably benign	Het
Ppp2ca	G	A	11: 52,008,913 (GRCm39)	G138R	probably damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Rdh7	A	G	10: 127,720,530 (GRCm39)	S281P	probably benign	Het
Rps17	C	T	7: 80,994,746 (GRCm39)	R5H	probably benign	Het
Scgb1b2	T	A	7: 30,991,201 (GRCm39)		probably benign	Het
Skic3	T	G	13: 76,260,393 (GRCm39)		probably benign	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Snap23	A	G	2: 120,429,793 (GRCm39)	T213A	probably benign	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Srebf1	A	G	11: 60,097,973 (GRCm39)	S44P	probably damaging	Het
St8sia5	T	C	18: 77,320,526 (GRCm39)	S93P	probably damaging	Het
Styk1	T	C	6: 131,289,539 (GRCm39)	E25G	probably benign	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tbc1d22b	A	G	17: 29,818,828 (GRCm39)	H394R	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Vangl1	A	T	3: 102,104,160 (GRCm39)	Y7N	probably damaging	Het
Vav2	A	T	2: 27,182,667 (GRCm39)		probably null	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r15	A	G	5: 109,441,073 (GRCm39)	Y262H	probably benign	Het
Vmn2r76	T	C	7: 85,879,707 (GRCm39)	M198V	probably benign	Het
Zfp831	A	C	2: 174,486,034 (GRCm39)	R236S	probably benign	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
R0477:Tbx5	UTSW	5	120,021,184 (GRCm39)	missense	possibly damaging	0.89
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
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'- CTAGCTGGAAACAAAGGGAGTTTTG -3'
(R):5'- GCAAACAGCTCCAACTTGGC -3'

Sequencing Primer
(F):5'- ACATCGTGAAAGCAGACG -3'
(R):5'- AGCTCCAACTTGGCCCCTG -3'

Posted On

2014-10-16