Mutagenetix > Incidental Mutation

Incidental Mutation 'R1681:Tbx15'

188477

Institutional Source

Beutler Lab

Gene Symbol

Tbx15

Ensembl Gene

ENSMUSG00000027868

Gene Name

T-box 15

Synonyms

Tbx8, de, Tbx14

MMRRC Submission

039717-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R1681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99147697-99261575 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 99259140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029462]

AlphaFold

O70306

Predicted Effect

probably null
Transcript: ENSMUST00000029462

SMART Domains

Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
TBOX	112	309	8.05e-131	SMART
Blast:TBOX	310	482	8e-83	BLAST
low complexity region	486	492	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutants have low set ears that project laterally, skeletal abnormalities and distinctive dorsoventral coat color patterning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,117,011 (GRCm39)	I247N	probably damaging	Het
Ankle1	G	T	8: 71,860,262 (GRCm39)	S260I	probably benign	Het
Aoc2	T	C	11: 101,216,018 (GRCm39)	S34P	probably benign	Het
Ap1m1	A	C	8: 73,009,966 (GRCm39)	I397L	possibly damaging	Het
Apba1	C	A	19: 23,913,925 (GRCm39)	D649E	probably damaging	Het
Aptx	C	T	4: 40,697,274 (GRCm39)	V25M	probably benign	Het
Arhgef18	G	A	8: 3,489,645 (GRCm39)	G326R	probably damaging	Het
Atm	A	C	9: 53,433,455 (GRCm39)	I265S	possibly damaging	Het
B3galt4	A	T	17: 34,170,187 (GRCm39)	V17E	probably benign	Het
Bcl7a	T	A	5: 123,494,086 (GRCm39)	M86K	possibly damaging	Het
Calhm6	A	G	10: 34,003,896 (GRCm39)	F4L	probably benign	Het
Cela3a	T	A	4: 137,129,995 (GRCm39)		probably null	Het
Cep85	T	A	4: 133,876,039 (GRCm39)	K456*	probably null	Het
Ces1f	C	A	8: 94,002,042 (GRCm39)	A29S	probably benign	Het
Chd9	A	T	8: 91,699,763 (GRCm39)	I598F	probably damaging	Het
Cntln	T	C	4: 84,865,872 (GRCm39)	L176S	probably damaging	Het
Cntn3	A	T	6: 102,147,629 (GRCm39)	N909K	probably damaging	Het
Cntnap5b	T	C	1: 100,003,832 (GRCm39)	S271P	probably damaging	Het
Col6a3	T	A	1: 90,701,224 (GRCm39)	H2564L	unknown	Het
Cyp2b19	C	A	7: 26,462,765 (GRCm39)		probably null	Het
Dapk1	G	T	13: 60,866,278 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,363,872 (GRCm39)	Y3497*	probably null	Het
Duoxa2	T	C	2: 122,129,643 (GRCm39)		probably null	Het
Eny2	T	C	15: 44,295,874 (GRCm39)	W42R	probably damaging	Het
Epha3	A	G	16: 63,416,091 (GRCm39)	V635A	probably damaging	Het
Fam167b	G	C	4: 129,472,069 (GRCm39)	Q34E	probably benign	Het
Fancm	T	C	12: 65,152,430 (GRCm39)	M962T	probably benign	Het
Gimap8	T	A	6: 48,633,345 (GRCm39)	I388N	probably benign	Het
Gpaa1	A	G	15: 76,215,653 (GRCm39)	T22A	probably benign	Het
Hoxc11	T	C	15: 102,863,591 (GRCm39)	S211P	possibly damaging	Het
Hsd17b12	T	C	2: 93,863,906 (GRCm39)	N312S	unknown	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kank1	T	C	19: 25,387,668 (GRCm39)	V447A	possibly damaging	Het
Kif1b	T	A	4: 149,279,958 (GRCm39)		probably null	Het
Klc4	A	T	17: 46,947,696 (GRCm39)	D335E	probably damaging	Het
Klhl33	T	A	14: 51,130,534 (GRCm39)	D320V	probably benign	Het
Krt73	A	T	15: 101,710,482 (GRCm39)	M84K	possibly damaging	Het
Kti12	T	A	4: 108,706,055 (GRCm39)	I323N	probably damaging	Het
Kynu	T	C	2: 43,569,837 (GRCm39)	L373P	probably damaging	Het
Lats1	T	C	10: 7,581,678 (GRCm39)	M821T	probably damaging	Het
Lnx1	A	T	5: 74,846,071 (GRCm39)	H126Q	probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc4b	T	A	7: 44,110,601 (GRCm39)	Y158N	probably damaging	Het
Lrrc74b	C	A	16: 17,377,617 (GRCm39)	R87L	probably damaging	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Mrpl38	G	A	11: 116,029,255 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,872,450 (GRCm39)	T966A	possibly damaging	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Nlrp1a	T	A	11: 71,033,184 (GRCm39)	E3D	unknown	Het
Nphs2	T	A	1: 156,148,468 (GRCm39)	D110E	probably damaging	Het
Nxn	T	A	11: 76,163,290 (GRCm39)	K244N	probably benign	Het
Oas3	A	T	5: 120,907,973 (GRCm39)	F322L	probably benign	Het
Obscn	T	A	11: 58,994,151 (GRCm39)	Y1577F	probably damaging	Het
Or10ag57	G	A	2: 87,218,964 (GRCm39)	R305K	possibly damaging	Het
Or8b47	T	A	9: 38,435,413 (GRCm39)	N128K	probably benign	Het
Or8b50	G	A	9: 38,518,244 (GRCm39)	G161D	probably damaging	Het
Or8b52	A	G	9: 38,576,616 (GRCm39)	Y175H	probably benign	Het
Or8d2	T	C	9: 38,759,809 (GRCm39)	M133T	probably damaging	Het
Panx1	T	C	9: 14,919,079 (GRCm39)	D260G	probably benign	Het
Pcdhb15	T	C	18: 37,606,866 (GRCm39)	Y33H	probably damaging	Het
Pik3ap1	C	A	19: 41,296,968 (GRCm39)	V461F	probably damaging	Het
Plpp3	G	A	4: 105,066,002 (GRCm39)		probably null	Het
Prtn3	A	T	10: 79,716,375 (GRCm39)	T61S	probably benign	Het
Psen1	T	A	12: 83,771,394 (GRCm39)	Y225N	probably damaging	Het
Rab44	T	A	17: 29,359,098 (GRCm39)	S429T	possibly damaging	Het
Ralgapa1	T	C	12: 55,809,388 (GRCm39)	I462M	probably benign	Het
Rbfox3	T	C	11: 118,396,495 (GRCm39)	N105S	probably damaging	Het
Rbm7	A	C	9: 48,401,021 (GRCm39)	Y236D	possibly damaging	Het
Samhd1	T	C	2: 156,943,652 (GRCm39)	T621A	probably benign	Het
Samt3	C	A	X: 85,090,256 (GRCm39)	D49E	probably benign	Het
Sass6	T	C	3: 116,397,122 (GRCm39)	V26A	possibly damaging	Het
Scn11a	C	T	9: 119,633,478 (GRCm39)	M418I	possibly damaging	Het
Scrib	T	C	15: 75,936,416 (GRCm39)	E480G	probably damaging	Het
Sec24a	T	G	11: 51,586,016 (GRCm39)	T1071P	probably damaging	Het
Siglecg	A	C	7: 43,058,365 (GRCm39)	E84A	probably benign	Het
Slc6a17	C	T	3: 107,381,702 (GRCm39)	V419I	probably damaging	Het
Ssr2	T	C	3: 88,488,349 (GRCm39)	M75T	possibly damaging	Het
Tbc1d22b	A	G	17: 29,794,151 (GRCm39)	T275A	possibly damaging	Het
Tll1	A	C	8: 64,538,585 (GRCm39)	L353R	possibly damaging	Het
Tlr4	C	T	4: 66,759,342 (GRCm39)	P712S	probably damaging	Het
Tmem145	T	A	7: 25,014,159 (GRCm39)	F424L	possibly damaging	Het
Tnrc18	T	C	5: 142,759,572 (GRCm39)	K755E	unknown	Het
Trmt44	A	G	5: 35,727,321 (GRCm39)	I298T	probably benign	Het
Vmn1r69	A	G	7: 10,314,179 (GRCm39)	V184A	probably benign	Het
Zfp84	T	C	7: 29,476,825 (GRCm39)	C506R	probably damaging	Het

Other mutations in Tbx15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Tbx15	APN	3	99,223,562 (GRCm39)	missense	probably damaging	1.00
IGL01458:Tbx15	APN	3	99,223,544 (GRCm39)	missense	probably damaging	0.98
IGL01633:Tbx15	APN	3	99,220,358 (GRCm39)	missense	probably damaging	0.97
IGL02338:Tbx15	APN	3	99,259,800 (GRCm39)	missense	probably damaging	1.00
IGL02415:Tbx15	APN	3	99,259,826 (GRCm39)	missense	probably benign	0.01
IGL03143:Tbx15	APN	3	99,259,514 (GRCm39)	missense	possibly damaging	0.67
IGL03201:Tbx15	APN	3	99,259,296 (GRCm39)	missense	probably benign	0.00
shin_guard	UTSW	3	99,259,508 (GRCm39)	missense	possibly damaging	0.90
Shortcut	UTSW	3	99,220,389 (GRCm39)	nonsense	probably null
R0012:Tbx15	UTSW	3	99,259,412 (GRCm39)	missense	probably benign
R0109:Tbx15	UTSW	3	99,259,182 (GRCm39)	missense	possibly damaging	0.92
R0277:Tbx15	UTSW	3	99,259,707 (GRCm39)	missense	probably damaging	1.00
R0462:Tbx15	UTSW	3	99,223,634 (GRCm39)	missense	probably damaging	1.00
R1134:Tbx15	UTSW	3	99,223,639 (GRCm39)	missense	probably damaging	0.98
R1347:Tbx15	UTSW	3	99,259,427 (GRCm39)	missense	possibly damaging	0.92
R1347:Tbx15	UTSW	3	99,259,427 (GRCm39)	missense	possibly damaging	0.92
R1506:Tbx15	UTSW	3	99,259,228 (GRCm39)	missense	possibly damaging	0.80
R1762:Tbx15	UTSW	3	99,259,260 (GRCm39)	nonsense	probably null
R1789:Tbx15	UTSW	3	99,259,562 (GRCm39)	nonsense	probably null
R2167:Tbx15	UTSW	3	99,233,771 (GRCm39)	splice site	probably benign
R2254:Tbx15	UTSW	3	99,259,190 (GRCm39)	missense	possibly damaging	0.52
R2357:Tbx15	UTSW	3	99,223,672 (GRCm39)	splice site	probably null
R2441:Tbx15	UTSW	3	99,259,827 (GRCm39)	missense	probably damaging	0.99
R3010:Tbx15	UTSW	3	99,161,209 (GRCm39)	intron	probably benign
R3118:Tbx15	UTSW	3	99,259,470 (GRCm39)	missense	probably damaging	0.96
R4081:Tbx15	UTSW	3	99,220,370 (GRCm39)	missense	possibly damaging	0.92
R4610:Tbx15	UTSW	3	99,259,683 (GRCm39)	missense	probably damaging	1.00
R4898:Tbx15	UTSW	3	99,259,583 (GRCm39)	missense	possibly damaging	0.95
R4950:Tbx15	UTSW	3	99,233,700 (GRCm39)	missense	possibly damaging	0.82
R4982:Tbx15	UTSW	3	99,161,390 (GRCm39)	missense	probably benign	0.06
R4999:Tbx15	UTSW	3	99,223,649 (GRCm39)	missense	probably damaging	1.00
R5236:Tbx15	UTSW	3	99,259,362 (GRCm39)	missense	possibly damaging	0.92
R5339:Tbx15	UTSW	3	99,223,600 (GRCm39)	missense	possibly damaging	0.61
R5364:Tbx15	UTSW	3	99,259,508 (GRCm39)	missense	possibly damaging	0.90
R5493:Tbx15	UTSW	3	99,259,880 (GRCm39)	missense	probably benign
R5690:Tbx15	UTSW	3	99,216,166 (GRCm39)	missense	probably damaging	0.99
R5756:Tbx15	UTSW	3	99,220,402 (GRCm39)	missense	probably damaging	1.00
R6032:Tbx15	UTSW	3	99,259,833 (GRCm39)	missense	probably benign	0.28
R6032:Tbx15	UTSW	3	99,259,833 (GRCm39)	missense	probably benign	0.28
R6156:Tbx15	UTSW	3	99,220,431 (GRCm39)	critical splice donor site	probably null
R6173:Tbx15	UTSW	3	99,161,203 (GRCm39)	nonsense	probably null
R6596:Tbx15	UTSW	3	99,259,508 (GRCm39)	missense	probably benign
R6680:Tbx15	UTSW	3	99,220,389 (GRCm39)	nonsense	probably null
R6931:Tbx15	UTSW	3	99,259,467 (GRCm39)	missense	probably damaging	1.00
R8129:Tbx15	UTSW	3	99,161,254 (GRCm39)	missense	probably damaging	1.00
R8155:Tbx15	UTSW	3	99,259,886 (GRCm39)	missense	possibly damaging	0.69
R8230:Tbx15	UTSW	3	99,259,305 (GRCm39)	missense	probably damaging	1.00
R8729:Tbx15	UTSW	3	99,220,376 (GRCm39)	missense	possibly damaging	0.90
R8929:Tbx15	UTSW	3	99,222,219 (GRCm39)	missense	probably damaging	1.00
R9038:Tbx15	UTSW	3	99,222,085 (GRCm39)	missense	probably benign	0.14
R9688:Tbx15	UTSW	3	99,233,708 (GRCm39)	missense	possibly damaging	0.89
R9746:Tbx15	UTSW	3	99,259,647 (GRCm39)	missense	probably damaging	1.00
X0023:Tbx15	UTSW	3	99,222,151 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-05-09