Mutagenetix > Incidental Mutation

Incidental Mutation 'R5062:Tbx5'

386672

Institutional Source

Beutler Lab

Gene Symbol

Tbx5

Ensembl Gene

ENSMUSG00000018263

Gene Name

T-box 5

Synonyms

MMRRC Submission

042652-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R5062 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

119970733-120023284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119974987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 3 (D3E)

Ref Sequence

ENSEMBL: ENSMUSP00000018407 (fasta)

Gene Model

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

AlphaFold

P70326

Predicted Effect

probably damaging
Transcript: ENSMUST00000018407
AA Change: D3E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000018407
Gene: ENSMUSG00000018263
AA Change: D3E

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 benign
Transcript: ENSMUST00000202504
AA Change: D3E

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000143828
Gene: ENSMUSG00000018263
AA Change: D3E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202723
AA Change: D3E

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144418
Gene: ENSMUSG00000018263
AA Change: D3E

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

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (79/79)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,067,892 (GRCm39)	I1593N	probably benign	Het
Akr1b10	G	T	6: 34,369,041 (GRCm39)	K173N	probably damaging	Het
Artn	A	T	4: 117,784,873 (GRCm39)	L3Q	probably damaging	Het
Asxl3	T	A	18: 22,655,775 (GRCm39)	S1262T	possibly damaging	Het
Atp6v0a4	A	T	6: 38,051,118 (GRCm39)	M420K	probably benign	Het
Bcam	T	A	7: 19,494,026 (GRCm39)	T422S	possibly damaging	Het
Casp2	C	T	6: 42,246,206 (GRCm39)		probably benign	Het
Ccdc137	A	G	11: 120,353,341 (GRCm39)		probably benign	Het
Cd177	C	A	7: 24,443,741 (GRCm39)	A786S	probably benign	Het
Cdca4	T	C	12: 112,785,483 (GRCm39)	N82D	probably benign	Het
Clu	A	C	14: 66,217,177 (GRCm39)	T337P	probably damaging	Het
Col6a3	A	C	1: 90,707,074 (GRCm39)	I2013S	unknown	Het
Cpne9	T	A	6: 113,281,449 (GRCm39)	M510K	probably damaging	Het
Cyp3a13	A	C	5: 137,897,161 (GRCm39)	N384K	possibly damaging	Het
Fam186a	A	C	15: 99,842,527 (GRCm39)	I1239S	possibly damaging	Het
Fryl	T	C	5: 73,233,236 (GRCm39)	E413G	possibly damaging	Het
Fscn2	A	C	11: 120,257,575 (GRCm39)	Y312S	probably damaging	Het
Fshr	A	T	17: 89,293,474 (GRCm39)	C401*	probably null	Het
Glyat	A	C	19: 12,627,627 (GRCm39)	Q74P	probably damaging	Het
Gm6158	A	T	14: 24,120,158 (GRCm39)		noncoding transcript	Het
Grm7	A	G	6: 110,623,097 (GRCm39)	N90S	probably damaging	Het
Hectd1	A	T	12: 51,791,662 (GRCm39)	C2536S	probably damaging	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Kctd3	A	C	1: 188,727,890 (GRCm39)		probably benign	Het
Klhl30	A	G	1: 91,283,300 (GRCm39)	T301A	probably benign	Het
Klra9	T	C	6: 130,156,072 (GRCm39)	K228E	possibly damaging	Het
Lamc3	A	T	2: 31,795,679 (GRCm39)	T355S	possibly damaging	Het
Lcmt1	A	C	7: 123,010,053 (GRCm39)		probably null	Het
Limch1	C	T	5: 67,126,578 (GRCm39)	P60S	probably damaging	Het
Lrfn2	A	G	17: 49,377,528 (GRCm39)	D203G	probably damaging	Het
Mc5r	T	C	18: 68,472,352 (GRCm39)	L237P	probably damaging	Het
Mknk2	G	A	10: 80,507,603 (GRCm39)	R58W	probably damaging	Het
Mrgpra2b	T	C	7: 47,152,676 (GRCm39)		probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Nae1	A	T	8: 105,243,334 (GRCm39)	C395S	possibly damaging	Het
Ncoa1	A	G	12: 4,309,333 (GRCm39)	M1321T	probably damaging	Het
Neb	A	C	2: 52,170,513 (GRCm39)	F1720V	possibly damaging	Het
Nectin2	C	T	7: 19,472,198 (GRCm39)	V64I	probably benign	Het
Nisch	T	A	14: 30,894,397 (GRCm39)	T1145S	probably damaging	Het
Nlrp5	A	T	7: 23,135,335 (GRCm39)	R1009*	probably null	Het
Or12d13	A	T	17: 37,647,822 (GRCm39)	H100Q	probably damaging	Het
Or4k15	T	A	14: 50,364,894 (GRCm39)	Y287N	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pak1ip1	A	G	13: 41,161,621 (GRCm39)		probably benign	Het
Pcm1	T	C	8: 41,712,297 (GRCm39)	V189A	probably damaging	Het
Peak1	G	T	9: 56,167,573 (GRCm39)	N118K	probably damaging	Het
Phgdh	T	A	3: 98,235,655 (GRCm39)	I121F	probably damaging	Het
Pi4ka	G	T	16: 17,127,261 (GRCm39)	A1064E	probably benign	Het
Pkhd1	A	C	1: 20,655,935 (GRCm39)	C199W	probably benign	Het
Plat	A	G	8: 23,262,327 (GRCm39)	D117G	probably benign	Het
Ppp2r2b	C	A	18: 42,821,526 (GRCm39)	V211L	possibly damaging	Het
Ptgs1	A	G	2: 36,127,294 (GRCm39)	D60G	probably damaging	Het
Ryr2	T	C	13: 11,715,240 (GRCm39)	E2776G	probably damaging	Het
Sema4c	C	T	1: 36,592,059 (GRCm39)		probably null	Het
Sharpin	T	C	15: 76,231,811 (GRCm39)		probably benign	Het
Slamf6	A	G	1: 171,764,100 (GRCm39)	I164M	possibly damaging	Het
Slco1a7	A	C	6: 141,713,180 (GRCm39)	M67R	possibly damaging	Het
Spef1	A	G	2: 131,015,201 (GRCm39)	Y46H	probably damaging	Het
Spns1	G	A	7: 125,973,501 (GRCm39)		probably benign	Het
Supt5	C	T	7: 28,028,440 (GRCm39)		probably null	Het
Thbs1	T	C	2: 117,951,718 (GRCm39)		probably null	Het
Tmem140	G	A	6: 34,849,897 (GRCm39)	V138M	probably damaging	Het
Tmem200a	T	A	10: 25,869,813 (GRCm39)	D152V	probably damaging	Het
Tmem200b	A	G	4: 131,649,848 (GRCm39)	D256G	probably damaging	Het
Tns1	A	T	1: 73,992,023 (GRCm39)	L885Q	probably damaging	Het
Umod	G	A	7: 119,071,644 (GRCm39)	Q366*	probably null	Het
Vsir	A	G	10: 60,200,042 (GRCm39)	I208V	probably damaging	Het
Zfp646	G	A	7: 127,479,671 (GRCm39)	R616H	probably 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
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'- TGCGTGGTCGGAAAGTATAAC -3'
(R):5'- ATAGAGGGAATAGCTGGCCC -3'

Sequencing Primer
(F):5'- CCTATGTCGCTAGACACT -3'
(R):5'- TGCACCGTTAGCAGAGAGC -3'

Posted On

2016-06-06