Mutagenetix > Incidental Mutation

Incidental Mutation 'R2441:Tbx15'

249777

Institutional Source

Beutler Lab

Gene Symbol

Tbx15

Ensembl Gene

ENSMUSG00000027868

Gene Name

T-box 15

Synonyms

Tbx8, de, Tbx14

MMRRC Submission

040399-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R2441 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99147697-99261575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 99259827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 566 (M566R)

Ref Sequence

ENSEMBL: ENSMUSP00000029462 (fasta)

Gene Model

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

AlphaFold

O70306

Predicted Effect

probably damaging
Transcript: ENSMUST00000029462
AA Change: M566R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: M566R

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: 97.1%
20x: 94.7%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,449 (GRCm39)	N172S	possibly damaging	Het
AY358078	A	G	14: 52,037,546 (GRCm39)	H15R	probably benign	Het
Boc	A	G	16: 44,308,986 (GRCm39)	V842A	probably damaging	Het
Chuk	T	A	19: 44,085,360 (GRCm39)	N262I	probably damaging	Het
Erich6	A	T	3: 58,526,232 (GRCm39)	L590Q	probably damaging	Het
Fsip2	A	T	2: 82,815,685 (GRCm39)	H3806L	possibly damaging	Het
Gucy1b1	T	C	3: 81,952,761 (GRCm39)	D224G	probably damaging	Het
Hgf	A	T	5: 16,809,788 (GRCm39)	H426L	probably damaging	Het
Nrxn2	G	T	19: 6,478,331 (GRCm39)	G85W	probably damaging	Het
Ntrk3	A	T	7: 77,952,410 (GRCm39)	N602K	probably damaging	Het
Or13p10	G	A	4: 118,523,332 (GRCm39)	G206D	possibly damaging	Het
Or5p51	T	C	7: 107,444,185 (GRCm39)	T252A	probably benign	Het
P3h4	G	A	11: 100,304,594 (GRCm39)	R216W	probably damaging	Het
Pced1b	T	A	15: 97,282,166 (GRCm39)	D68E	possibly damaging	Het
Pzp	A	T	6: 128,466,731 (GRCm39)	L1161*	probably null	Het
Rprd1a	A	T	18: 24,640,257 (GRCm39)	L173*	probably null	Het
Slfn3	A	G	11: 83,103,509 (GRCm39)	I127V	probably benign	Het
Sp100	A	G	1: 85,631,210 (GRCm39)		probably benign	Het
Tesmin	G	A	19: 3,452,577 (GRCm39)		probably null	Het
Tmem132a	A	G	19: 10,837,501 (GRCm39)	V603A	probably damaging	Het
Tob2	G	T	15: 81,735,923 (GRCm39)	Y15*	probably null	Het
Trim23	A	T	13: 104,328,583 (GRCm39)	Q307L	probably damaging	Het
Trpc4	A	T	3: 54,129,704 (GRCm39)	I157L	probably damaging	Het
Tsen34	A	T	7: 3,697,994 (GRCm39)	K87N	possibly damaging	Het
Ubr5	A	G	15: 37,989,589 (GRCm39)	S2076P	probably damaging	Het
Vmn2r59	C	T	7: 41,695,570 (GRCm39)	V281I	probably benign	Het
Vwa3b	T	C	1: 37,182,150 (GRCm39)		probably benign	Het
Zfp384	C	T	6: 125,013,612 (GRCm39)	P544L	probably benign	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
R1681:Tbx15	UTSW	3	99,259,140 (GRCm39)	splice site	probably null
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
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

PCR Primer
(F):5'- ATCGCCACACATGTTTGGTGG -3'
(R):5'- GGATGATCCACCCACAGAGATTC -3'

Sequencing Primer
(F):5'- TGCAGCAGAGCTCCTATAATG -3'
(R):5'- CAGAGATTCTGGAGTCTTGGCC -3'

Posted On

2014-11-12