Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Tbx5'

503833

Institutional Source

Beutler Lab

Gene Symbol

Tbx5

Ensembl Gene

ENSMUSG00000018263

Gene Name

T-box 5

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119970733-120023284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119991663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 245 (H245Y)

Ref Sequence

ENSEMBL: ENSMUSP00000018407 (fasta)

Gene Model

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

AlphaFold

P70326

Predicted Effect

probably damaging
Transcript: ENSMUST00000018407
AA Change: H245Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018407
Gene: ENSMUSG00000018263
AA Change: H245Y

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

0.2475

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,728,730 (GRCm39)	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 48,910,134 (GRCm39)	N766K	probably benign	Het
Adam15	A	C	3: 89,251,190 (GRCm39)	I505S	probably benign	Het
Apc2	T	C	10: 80,142,254 (GRCm39)	M391T	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bclaf1	A	G	10: 20,210,374 (GRCm39)	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,216,021 (GRCm39)	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,724,863 (GRCm39)		probably null	Het
Ddhd1	A	G	14: 45,851,633 (GRCm39)	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,526,671 (GRCm39)	S469T	probably benign	Het
Dzip3	A	T	16: 48,778,828 (GRCm39)	M323K	possibly damaging	Het
Eci2	T	A	13: 35,177,048 (GRCm39)		probably null	Het
Fam227b	A	T	2: 125,968,882 (GRCm39)	V64E	probably damaging	Het
Galnt2	A	G	8: 125,070,054 (GRCm39)	I524V	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm3443	T	A	19: 21,533,110 (GRCm39)	S25T	probably damaging	Het
Gpr22	T	A	12: 31,761,616 (GRCm39)	K14*	probably null	Het
Grip1	T	C	10: 119,822,251 (GRCm39)	S405P	possibly damaging	Het
Helz2	T	C	2: 180,877,738 (GRCm39)	H1020R	probably damaging	Het
Helz2	C	A	2: 180,874,087 (GRCm39)	V2136L	probably benign	Het
Il36rn	G	A	2: 24,167,502 (GRCm39)		probably benign	Het
Iqsec1	T	A	6: 90,666,617 (GRCm39)	S607C	probably damaging	Het
Irag1	G	A	7: 110,476,112 (GRCm39)	T819M	probably benign	Het
Klhl2	A	T	8: 65,205,801 (GRCm39)	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,168,645 (GRCm39)	I595V	unknown	Het
Large2	T	C	2: 92,200,981 (GRCm39)	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,009,881 (GRCm39)	Y122H	probably damaging	Het
Map1b	A	T	13: 99,569,714 (GRCm39)	D1002E	unknown	Het
Mink1	C	T	11: 70,489,720 (GRCm39)	T59I	possibly damaging	Het
Myo7b	T	C	18: 32,092,507 (GRCm39)	N2097D	probably benign	Het
Nbea	C	A	3: 55,535,905 (GRCm39)	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,490,257 (GRCm39)	V490E	probably damaging	Het
Or2w1b	G	A	13: 21,300,401 (GRCm39)	E180K	probably damaging	Het
Or2y3	A	G	17: 38,393,620 (GRCm39)	M83T	probably damaging	Het
Or4c123	G	T	2: 89,127,306 (GRCm39)	H103N	probably damaging	Het
Or4f62	T	C	2: 111,986,701 (GRCm39)	I135T	probably damaging	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Pctp	A	G	11: 89,878,144 (GRCm39)	I130T	probably benign	Het
Pdcl3	T	C	1: 39,027,152 (GRCm39)		probably null	Het
Pheta2	T	A	15: 82,227,917 (GRCm39)	H145Q	probably benign	Het
Pira12	A	T	7: 3,897,031 (GRCm39)	S602T	possibly damaging	Het
Pkp1	T	C	1: 135,807,646 (GRCm39)	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,898,992 (GRCm39)	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,430 (GRCm39)	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,098,823 (GRCm39)	Y712H	probably damaging	Het
Prune2	T	C	19: 17,098,926 (GRCm39)	S1477P	probably benign	Het
Psma5	A	G	3: 108,187,118 (GRCm39)	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,106,286 (GRCm39)	A284P	probably benign	Het
Samsn1	G	A	16: 75,742,162 (GRCm39)		noncoding transcript	Het
Scel	A	G	14: 103,809,478 (GRCm39)	T273A	probably benign	Het
Slc22a5	T	A	11: 53,782,444 (GRCm39)		probably benign	Het
Slc25a37	A	T	14: 69,486,953 (GRCm39)	M110K	possibly damaging	Het
Slc6a2	A	T	8: 93,708,609 (GRCm39)	M242L	probably benign	Het
Slc8a3	C	A	12: 81,246,341 (GRCm39)	W904L	probably benign	Het
Ss18l1	G	A	2: 179,696,905 (GRCm39)	V109I	probably benign	Het
Thumpd2	C	A	17: 81,360,342 (GRCm39)	L244F	probably damaging	Het
Tmem107	T	A	11: 68,962,241 (GRCm39)	V66E	probably damaging	Het
Tnr	T	C	1: 159,715,884 (GRCm39)	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,781,733 (GRCm39)	V340A	possibly damaging	Het
Veph1	T	C	3: 66,162,481 (GRCm39)	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,449,983 (GRCm39)	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,610 (GRCm39)	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,818,436 (GRCm39)	E620G	probably benign	Het
Zfp418	A	G	7: 7,185,627 (GRCm39)	H530R	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,581 (GRCm39)	A10T	possibly damaging	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
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
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'- TCCTGTCACTGTGATGGCTG -3'
(R):5'- TCCAGATCCTAAGGGTTATGAGAAG -3'

Sequencing Primer
(F):5'- CACTGTGATGGCTGCGTTG -3'
(R):5'- CATGGTGAGACTTGCTTGCAATACC -3'

Posted On

2018-02-27