Mutagenetix > Incidental Mutation

Incidental Mutation 'R8772:Tbx5'

664454

Institutional Source

Beutler Lab

Gene Symbol

Tbx5

Ensembl Gene

ENSMUSG00000018263

Gene Name

T-box 5

Synonyms

MMRRC Submission

068626-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R8772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119970733-120023284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119976790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 59 (H59Q)

Ref Sequence

ENSEMBL: ENSMUSP00000018407 (fasta)

Gene Model

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

AlphaFold

P70326

Predicted Effect

probably benign
Transcript: ENSMUST00000018407
AA Change: H59Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000018407
Gene: ENSMUSG00000018263
AA Change: H59Q

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: H59Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000143828
Gene: ENSMUSG00000018263
AA Change: H59Q

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
AA Change: H59Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144418
Gene: ENSMUSG00000018263
AA Change: H59Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (83/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,827,903 (GRCm39)	V574A	probably benign	Het
AC157566.4	T	C	15: 76,418,449 (GRCm39)	Y20C	probably benign	Het
Acacb	A	T	5: 114,322,179 (GRCm39)	D231V	possibly damaging	Het
Acp7	C	T	7: 28,315,909 (GRCm39)	V226M	probably damaging	Het
Actr1a	A	G	19: 46,370,731 (GRCm39)		probably null	Het
Adamts16	T	C	13: 70,984,453 (GRCm39)	Y70C	probably damaging	Het
Adcy5	G	A	16: 35,119,958 (GRCm39)	A1156T	probably damaging	Het
Ago1	A	T	4: 126,354,316 (GRCm39)		probably benign	Het
Akap9	G	A	5: 4,096,255 (GRCm39)	E2377K	probably damaging	Het
Asic2	A	G	11: 81,858,713 (GRCm39)	S100P	probably benign	Het
Atp1a1	A	C	3: 101,487,124 (GRCm39)	V895G	probably benign	Het
B3gnt7	A	G	1: 86,233,294 (GRCm39)	E180G	possibly damaging	Het
Cacna1c	A	T	6: 118,579,283 (GRCm39)	F1805I		Het
Cacna1g	A	G	11: 94,356,713 (GRCm39)	I141T	probably benign	Het
Ccdc162	A	G	10: 41,506,033 (GRCm39)	L919P	probably damaging	Het
Cd47	A	G	16: 49,704,575 (GRCm39)	I116V		Het
Cdca2	A	T	14: 67,935,529 (GRCm39)	D395E	probably damaging	Het
Celsr2	A	T	3: 108,304,389 (GRCm39)	I2285N	possibly damaging	Het
Chil5	T	C	3: 105,925,536 (GRCm39)	D157G	probably damaging	Het
Ciita	A	T	16: 10,298,026 (GRCm39)	I7F	probably damaging	Het
Dok7	G	T	5: 35,234,593 (GRCm39)	G215C	probably damaging	Het
Eif2s2	T	C	2: 154,729,659 (GRCm39)	I88V	probably null	Het
Fasn	A	T	11: 120,711,362 (GRCm39)	D217E	probably benign	Het
Fgd5	T	A	6: 92,027,400 (GRCm39)	I1030N	probably damaging	Het
Fpr-rs6	T	A	17: 20,402,495 (GRCm39)	N289Y	probably damaging	Het
Gm10392	C	T	11: 77,409,280 (GRCm39)	V49I	possibly damaging	Het
Gtf3c2	A	T	5: 31,331,758 (GRCm39)	M20K	probably benign	Het
Hoga1	A	G	19: 42,034,384 (GRCm39)	M10V	probably benign	Het
Homer1	T	A	13: 93,528,239 (GRCm39)	V258E	probably damaging	Het
Ifitm2	A	G	7: 140,535,803 (GRCm39)	L9S	probably benign	Het
Iqgap3	G	A	3: 87,997,144 (GRCm39)	A176T	probably benign	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Lyst	C	T	13: 13,812,077 (GRCm39)	Q830*	probably null	Het
Macc1	T	C	12: 119,411,220 (GRCm39)	W663R	probably damaging	Het
Mipol1	A	T	12: 57,372,418 (GRCm39)	H159L	probably benign	Het
Mocs1	T	A	17: 49,757,402 (GRCm39)		probably null	Het
Ncoa1	T	C	12: 4,372,940 (GRCm39)	T154A	possibly damaging	Het
Noxred1	A	C	12: 87,273,867 (GRCm39)	L58R	probably benign	Het
Opcml	T	C	9: 27,702,707 (GRCm39)	V9A	probably benign	Het
Or51e2	G	A	7: 102,392,210 (GRCm39)		probably benign	Het
Or5ac23	A	G	16: 59,149,051 (GRCm39)	S274P	probably damaging	Het
Or8c17	G	A	9: 38,180,231 (GRCm39)	V133I	probably benign	Het
Otog	A	T	7: 45,934,352 (GRCm39)	R1303S	probably damaging	Het
Parp11	T	A	6: 127,468,667 (GRCm39)	I322N	probably damaging	Het
Parp11	T	A	6: 127,447,726 (GRCm39)	M20K	possibly damaging	Het
Pde1b	T	C	15: 103,433,548 (GRCm39)		probably benign	Het
Pglyrp4	A	T	3: 90,647,707 (GRCm39)	T356S	possibly damaging	Het
Pitrm1	A	G	13: 6,628,596 (GRCm39)	D963G	probably damaging	Het
Plod3	T	C	5: 137,017,773 (GRCm39)	V183A	probably damaging	Het
Plxnb2	C	T	15: 89,046,949 (GRCm39)	V791M	probably damaging	Het
Poc1b	T	A	10: 98,992,219 (GRCm39)		probably benign	Het
Ppp1r7	A	G	1: 93,282,150 (GRCm39)	T234A	probably benign	Het
Pxdn	C	T	12: 30,065,463 (GRCm39)	T1441I	probably damaging	Het
Rap1gap2	T	C	11: 74,296,551 (GRCm39)	K479E	probably damaging	Het
Rars2	A	G	4: 34,623,488 (GRCm39)	D63G	probably benign	Het
Rptor	A	C	11: 119,615,858 (GRCm39)	D124A	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Ryr1	C	A	7: 28,815,557 (GRCm39)	R118L	probably benign	Het
Sap130	G	C	18: 31,813,517 (GRCm39)	D525H	probably damaging	Het
Slc22a26	T	C	19: 7,767,477 (GRCm39)	N310D	probably benign	Het
Slc46a1	T	G	11: 78,356,777 (GRCm39)	N58K	probably benign	Het
Slc4a10	T	A	2: 62,134,284 (GRCm39)	I1000N	probably damaging	Het
Son	C	T	16: 91,454,826 (GRCm39)	T1191I	possibly damaging	Het
Sppl2a	T	C	2: 126,768,231 (GRCm39)	K146E	probably benign	Het
Srgap3	T	A	6: 112,743,906 (GRCm39)	K444I	probably damaging	Het
Sun1	T	C	5: 139,209,447 (GRCm39)	V59A	probably benign	Het
Sva	T	A	6: 42,015,443 (GRCm39)	Y37N	probably benign	Het
Taar8c	T	A	10: 23,977,705 (GRCm39)	M36L	probably benign	Het
Taf4b	C	T	18: 14,968,909 (GRCm39)	T682I	probably damaging	Het
Tdrd1	A	T	19: 56,843,760 (GRCm39)	Y746F	probably damaging	Het
Tmem132e	A	G	11: 82,325,137 (GRCm39)	S46G	probably damaging	Het
Tnfaip6	T	A	2: 51,941,077 (GRCm39)	V206E	possibly damaging	Het
Tpbpb	T	A	13: 61,049,193 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,768,025 (GRCm39)	K3025*	probably null	Het
Tulp4	T	A	17: 6,227,168 (GRCm39)	I106N	probably damaging	Het
Ubp1	T	A	9: 113,801,897 (GRCm39)	F454Y	probably benign	Het
Ugt2b37	A	T	5: 87,402,345 (GRCm39)	N95K	probably benign	Het
Vps13d	T	A	4: 144,801,602 (GRCm39)	R3539W		Het
Vsnl1	T	C	12: 11,382,180 (GRCm39)	H67R	probably damaging	Het
Zbbx	A	G	3: 75,062,692 (GRCm39)	Y22H	probably benign	Het
Zeb1	A	G	18: 5,770,382 (GRCm39)		probably null	Het
Zfp142	A	T	1: 74,610,825 (GRCm39)	L990Q	possibly damaging	Het
Zmiz1	G	A	14: 25,646,118 (GRCm39)	G265D	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
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
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'- TAGACTTTCCATCACTCCCCAGAAG -3'
(R):5'- TCCTGCGGAGGACTCTTTAG -3'

Sequencing Primer
(F):5'- AGAAGTCAGAGCGCTCTTTC -3'
(R):5'- TAGCCAGAATGAACCCTGATTG -3'

Posted On

2021-03-08