Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03143:Tbx15'

410751

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbx15

Ensembl Gene

ENSMUSG00000027868

Gene Name

T-box 15

Synonyms

de, Tbx14, Tbx8

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

IGL03143

Quality Score

Status

Chromosome

Chromosomal Location

99240381-99354259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99352198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 462 (M462L)

Ref Sequence

ENSEMBL: ENSMUSP00000029462 (fasta)

Gene Model

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

AlphaFold

O70306

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029462
AA Change: M462L

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: M462L

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	T	G	9: 121,909,267	L236R	probably damaging	Het
Agbl1	C	T	7: 76,420,045	Q442*	probably null	Het
Ahrr	G	A	13: 74,257,495	Q108*	probably null	Het
Ankrd23	T	C	1: 36,531,645		probably benign	Het
Art5	A	G	7: 102,097,897	I225T	probably damaging	Het
Asxl3	T	C	18: 22,522,974	V1347A	probably benign	Het
Birc6	A	G	17: 74,598,999	M1326V	possibly damaging	Het
Bpifb6	A	C	2: 153,902,735	N32T	probably damaging	Het
Brip1	T	A	11: 86,061,827	T1043S	possibly damaging	Het
Cbx5	A	T	15: 103,213,105	V35E	probably damaging	Het
Ccdc175	T	A	12: 72,136,058	M396L	probably benign	Het
Ceacam3	G	T	7: 17,158,120	E263*	probably null	Het
Cyp4a12a	A	G	4: 115,302,003	T157A	probably benign	Het
Derl3	T	C	10: 75,894,490	V129A	possibly damaging	Het
Dnajb1	T	C	8: 83,608,474	I48T	probably damaging	Het
Dopey2	G	A	16: 93,759,655	E349K	probably benign	Het
E330009J07Rik	A	T	6: 40,422,894		probably benign	Het
Fkbp10	A	T	11: 100,422,754	I285F	probably benign	Het
Frrs1	A	T	3: 116,899,187	T37S	probably damaging	Het
Gata2	A	G	6: 88,204,695	Y377C	probably damaging	Het
Gm9789	T	A	16: 89,157,995		probably benign	Het
Itpkb	T	A	1: 180,333,368	V353D	probably benign	Het
Kcng4	T	C	8: 119,625,770	E467G	probably damaging	Het
Kdm3a	A	T	6: 71,596,861	I906N	probably damaging	Het
Lama1	G	A	17: 67,804,536	G2261R	probably damaging	Het
Lamc1	A	T	1: 153,332,274	L89Q	probably benign	Het
Lef1	G	T	3: 131,200,316	E314*	probably null	Het
Lpin3	T	C	2: 160,903,598		probably benign	Het
Mkl2	A	G	16: 13,400,812	N452D	possibly damaging	Het
Naaladl1	C	T	19: 6,114,866	T628I	possibly damaging	Het
Nell1	C	T	7: 50,279,533	Q259*	probably null	Het
Neu2	G	T	1: 87,596,976	E228*	probably null	Het
Olfr1051	T	C	2: 86,276,236	N84D	probably benign	Het
Olfr1475	A	T	19: 13,479,471	H242Q	probably damaging	Het
Olfr178	A	G	16: 58,889,461	F253S	probably damaging	Het
Olfr935	T	G	9: 38,995,436		probably benign	Het
Osbpl6	T	A	2: 76,548,372	D124E	probably damaging	Het
Palm	T	C	10: 79,816,783		probably benign	Het
Parp8	C	A	13: 116,910,961		probably benign	Het
Pax7	A	G	4: 139,829,487		probably benign	Het
Pcnx3	G	A	19: 5,685,395	R468W	probably damaging	Het
Pds5b	T	A	5: 150,779,257	V818D	probably damaging	Het
Piezo2	C	T	18: 63,108,076	V694I	probably damaging	Het
Plk1	A	G	7: 122,161,654		probably benign	Het
Polb	T	C	8: 22,640,351		probably benign	Het
Rad54b	A	G	4: 11,599,755	T320A	probably damaging	Het
Reg3b	G	A	6: 78,372,200	W103*	probably null	Het
Slc17a3	T	G	13: 23,855,979		probably null	Het
Snrnp200	C	T	2: 127,230,042		probably benign	Het
Stox2	T	A	8: 47,193,804	H207L	possibly damaging	Het
Tcirg1	G	A	19: 3,898,811	T458I	probably damaging	Het
Tnfrsf25	A	G	4: 152,116,927		probably benign	Het
Trank1	A	G	9: 111,366,087	K1060E	probably damaging	Het
Ttc16	T	C	2: 32,774,445	D3G	possibly damaging	Het
Vmn1r199	A	C	13: 22,383,129	N155H	probably damaging	Het
Vmn1r202	G	A	13: 22,501,470	T259I	probably benign	Het

Other mutations in Tbx15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Tbx15	APN	3	99316246	missense	probably damaging	1.00
IGL01458:Tbx15	APN	3	99316228	missense	probably damaging	0.98
IGL01633:Tbx15	APN	3	99313042	missense	probably damaging	0.97
IGL02338:Tbx15	APN	3	99352484	missense	probably damaging	1.00
IGL02415:Tbx15	APN	3	99352510	missense	probably benign	0.01
IGL03201:Tbx15	APN	3	99351980	missense	probably benign	0.00
shin_guard	UTSW	3	99352192	missense	possibly damaging	0.90
Shortcut	UTSW	3	99313073	nonsense	probably null
R0012:Tbx15	UTSW	3	99352096	missense	probably benign
R0109:Tbx15	UTSW	3	99351866	missense	possibly damaging	0.92
R0277:Tbx15	UTSW	3	99352391	missense	probably damaging	1.00
R0462:Tbx15	UTSW	3	99316318	missense	probably damaging	1.00
R1134:Tbx15	UTSW	3	99316323	missense	probably damaging	0.98
R1347:Tbx15	UTSW	3	99352111	missense	possibly damaging	0.92
R1347:Tbx15	UTSW	3	99352111	missense	possibly damaging	0.92
R1506:Tbx15	UTSW	3	99351912	missense	possibly damaging	0.80
R1681:Tbx15	UTSW	3	99351824	splice site	probably null
R1762:Tbx15	UTSW	3	99351944	nonsense	probably null
R1789:Tbx15	UTSW	3	99352246	nonsense	probably null
R2167:Tbx15	UTSW	3	99326455	splice site	probably benign
R2254:Tbx15	UTSW	3	99351874	missense	possibly damaging	0.52
R2357:Tbx15	UTSW	3	99316356	splice site	probably null
R2441:Tbx15	UTSW	3	99352511	missense	probably damaging	0.99
R3010:Tbx15	UTSW	3	99253893	intron	probably benign
R3118:Tbx15	UTSW	3	99352154	missense	probably damaging	0.96
R4081:Tbx15	UTSW	3	99313054	missense	possibly damaging	0.92
R4610:Tbx15	UTSW	3	99352367	missense	probably damaging	1.00
R4898:Tbx15	UTSW	3	99352267	missense	possibly damaging	0.95
R4950:Tbx15	UTSW	3	99326384	missense	possibly damaging	0.82
R4982:Tbx15	UTSW	3	99254074	missense	probably benign	0.06
R4999:Tbx15	UTSW	3	99316333	missense	probably damaging	1.00
R5236:Tbx15	UTSW	3	99352046	missense	possibly damaging	0.92
R5339:Tbx15	UTSW	3	99316284	missense	possibly damaging	0.61
R5364:Tbx15	UTSW	3	99352192	missense	possibly damaging	0.90
R5493:Tbx15	UTSW	3	99352564	missense	probably benign
R5690:Tbx15	UTSW	3	99308850	missense	probably damaging	0.99
R5756:Tbx15	UTSW	3	99313086	missense	probably damaging	1.00
R6032:Tbx15	UTSW	3	99352517	missense	probably benign	0.28
R6032:Tbx15	UTSW	3	99352517	missense	probably benign	0.28
R6156:Tbx15	UTSW	3	99313115	critical splice donor site	probably null
R6173:Tbx15	UTSW	3	99253887	nonsense	probably null
R6596:Tbx15	UTSW	3	99352192	missense	probably benign
R6680:Tbx15	UTSW	3	99313073	nonsense	probably null
R6931:Tbx15	UTSW	3	99352151	missense	probably damaging	1.00
R8129:Tbx15	UTSW	3	99253938	missense	probably damaging	1.00
R8155:Tbx15	UTSW	3	99352570	missense	possibly damaging	0.69
R8230:Tbx15	UTSW	3	99351989	missense	probably damaging	1.00
R8729:Tbx15	UTSW	3	99313060	missense	possibly damaging	0.90
R8929:Tbx15	UTSW	3	99314903	missense	probably damaging	1.00
R9038:Tbx15	UTSW	3	99314769	missense	probably benign	0.14
R9688:Tbx15	UTSW	3	99326392	missense	possibly damaging	0.89
R9746:Tbx15	UTSW	3	99352331	missense	probably damaging	1.00
X0023:Tbx15	UTSW	3	99314835	missense	probably damaging	1.00

Posted On

2016-08-02