Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01458:Tbx15'

84866

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 #

IGL01458

Quality Score

Status

Chromosome

Chromosomal Location

99240381-99354259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99316228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 244 (V244A)

Ref Sequence

ENSEMBL: ENSMUSP00000029462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029462] [ENSMUST00000150756] [ENSMUST00000151606]

AlphaFold

O70306

Predicted Effect

probably damaging
Transcript: ENSMUST00000029462
AA Change: V244A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: V244A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000150756
AA Change: V138A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142358
Gene: ENSMUSG00000027868
AA Change: V138A

Domain	Start	End	E-Value	Type
TBOX	6	142	2.4e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151606

SMART Domains

Protein: ENSMUSP00000143417
Gene: ENSMUSG00000027868

Domain	Start	End	E-Value	Type
Pfam:T-box	8	51	1.1e-17	PFAM

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	A	T	9: 3,134,008		noncoding transcript	Het
Akap12	A	G	10: 4,354,060	E290G	probably damaging	Het
Akap6	T	A	12: 52,886,818	C364*	probably null	Het
Akr1c18	A	T	13: 4,137,144	Y198N	probably damaging	Het
Aurka	T	C	2: 172,368,979		probably benign	Het
Bloc1s6	T	A	2: 122,744,215		probably null	Het
Clca1	C	T	3: 145,007,778	M697I	probably benign	Het
Csn2	T	C	5: 87,696,020		probably benign	Het
Dsc1	T	C	18: 20,099,138	E271G	probably damaging	Het
Evi5	G	A	5: 107,815,647	A354V	probably damaging	Het
Fcer2a	T	A	8: 3,688,151	R137S	probably benign	Het
Fto	A	G	8: 91,441,716	T266A	probably benign	Het
Fzd4	G	A	7: 89,404,735	V17I	unknown	Het
Gadd45b	T	C	10: 80,931,241	L105P	probably damaging	Het
Galntl6	T	C	8: 58,427,709	S137G	probably damaging	Het
Gm2022	A	T	12: 87,895,388	K7*	probably null	Het
Gm5771	T	G	6: 41,396,687	D161E	probably benign	Het
Gpr135	T	C	12: 72,069,668	M442V	probably benign	Het
Kcnq1	T	A	7: 143,194,278	Y330*	probably null	Het
Kdm5b	A	G	1: 134,621,986	R1106G	possibly damaging	Het
Lrrc8e	C	T	8: 4,236,141	R789W	probably damaging	Het
Myo16	T	C	8: 10,435,853	L644P	probably damaging	Het
Nbeal1	G	T	1: 60,242,625		probably null	Het
Nlrp4c	T	C	7: 6,100,784	C906R	possibly damaging	Het
Olfr1118	C	T	2: 87,309,482	T251I	probably damaging	Het
Olfr344	T	A	2: 36,568,742	L48H	probably damaging	Het
Olfr389	A	T	11: 73,776,706	I207N	probably benign	Het
Ovgp1	A	G	3: 105,974,991	N70D	probably benign	Het
Panx3	A	T	9: 37,661,147	M369K	probably damaging	Het
Plet1	A	G	9: 50,494,717	N52S	probably benign	Het
Psg18	A	T	7: 18,354,816	M1K	probably null	Het
Ptprz1	A	T	6: 22,972,844	D251V	probably damaging	Het
Serpinb6a	A	G	13: 33,930,081	Y88H	possibly damaging	Het
Siglecf	G	A	7: 43,355,138	R297Q	possibly damaging	Het
Top2a	A	T	11: 99,011,030	L458Q	probably damaging	Het
Trim39	A	G	17: 36,263,963		probably benign	Het
Vps37c	T	C	19: 10,710,417	C81R	probably damaging	Het
Wdr62	A	T	7: 30,241,762	S744T	probably benign	Het
Zyg11a	G	A	4: 108,204,902	T234I	probably damaging	Het

Other mutations in Tbx15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Tbx15	APN	3	99316246	missense	probably damaging	1.00
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
IGL03143:Tbx15	APN	3	99352198	missense	possibly damaging	0.67
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

2013-11-11