Mutagenetix > Incidental Mutation

Incidental Mutation 'R9688:Tbx15'

728962

Institutional Source

Beutler Lab

Gene Symbol

Tbx15

Ensembl Gene

ENSMUSG00000027868

Gene Name

T-box 15

Synonyms

Tbx8, de, Tbx14

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R9688 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99147697-99261575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99233708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 290 (R290S)

Ref Sequence

ENSEMBL: ENSMUSP00000029462 (fasta)

Gene Model

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

AlphaFold

O70306

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029462
AA Change: R290S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: R290S

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,469,067 (GRCm39)		probably null	Het
Abca2	G	C	2: 25,324,459 (GRCm39)	A272P	possibly damaging	Het
Adarb1	T	A	10: 77,147,099 (GRCm39)	D479V	probably damaging	Het
Amz2	T	C	11: 109,320,765 (GRCm39)	F162S	probably damaging	Het
Ano4	A	T	10: 89,180,506 (GRCm39)	M1K	probably null	Het
Antxr1	G	A	6: 87,114,334 (GRCm39)	R478C	probably damaging	Het
Apobr	T	C	7: 126,186,663 (GRCm39)	S725P	probably benign	Het
Arap2	A	T	5: 62,872,109 (GRCm39)	D506E	probably damaging	Het
Ash1l	T	G	3: 88,892,024 (GRCm39)	I1301S	probably damaging	Het
Camk1g	T	A	1: 193,031,029 (GRCm39)	R305W	probably damaging	Het
Ces2g	A	T	8: 105,691,304 (GRCm39)	I147F	probably benign	Het
Cfap61	T	C	2: 145,878,758 (GRCm39)	F505L	probably damaging	Het
Cndp1	G	C	18: 84,655,982 (GRCm39)	N62K	probably benign	Het
Cog6	G	T	3: 52,916,528 (GRCm39)	Q214K	probably benign	Het
Depdc5	T	A	5: 33,055,276 (GRCm39)	Y226*	probably null	Het
Elp5	T	A	11: 69,861,425 (GRCm39)	I185F	probably damaging	Het
Ercc6	A	C	14: 32,297,755 (GRCm39)	H1334P	probably benign	Het
Ern1	T	C	11: 106,349,836 (GRCm39)	T27A	possibly damaging	Het
Esf1	A	T	2: 140,010,095 (GRCm39)	D80E	probably damaging	Het
Evpl	T	C	11: 116,124,986 (GRCm39)	K159E	probably damaging	Het
Gbx1	T	C	5: 24,731,510 (GRCm39)	Y102C	probably damaging	Het
Gjd2	A	G	2: 113,842,109 (GRCm39)	S123P	probably benign	Het
H2-M11	A	G	17: 36,859,054 (GRCm39)	Y198C	probably damaging	Het
Hps1	A	C	19: 42,755,147 (GRCm39)	V265G	probably benign	Het
Ifna16	C	A	4: 88,594,874 (GRCm39)	E74*	probably null	Het
Inca1	C	T	11: 70,579,810 (GRCm39)		probably null	Het
Jag2	A	G	12: 112,872,564 (GRCm39)	V1230A	probably benign	Het
Jam3	G	A	9: 27,010,204 (GRCm39)	T260M	probably benign	Het
Klhl5	A	T	5: 65,321,930 (GRCm39)	D652V	probably damaging	Het
L3mbtl1	A	T	2: 162,790,697 (GRCm39)	I81L	possibly damaging	Het
Lgalsl	C	T	11: 20,779,442 (GRCm39)	A68T	probably benign	Het
Map3k14	T	A	11: 103,130,059 (GRCm39)	D286V	possibly damaging	Het
Mdn1	A	G	4: 32,745,590 (GRCm39)	I4083V	probably damaging	Het
Ms4a5	T	C	19: 11,254,058 (GRCm39)	I136M	possibly damaging	Het
Mtcl3	T	C	10: 29,072,691 (GRCm39)	V661A	possibly damaging	Het
Naa16	A	T	14: 79,573,309 (GRCm39)	Y820*	probably null	Het
Nbea	G	T	3: 55,557,165 (GRCm39)	N2537K	probably benign	Het
Ncapd3	A	G	9: 26,967,349 (GRCm39)	S562G	probably benign	Het
Or5t5	A	C	2: 86,617,005 (GRCm39)	K310N	probably damaging	Het
Or6c1b	C	A	10: 129,272,967 (GRCm39)	C95*	probably null	Het
Pcdhac2	A	G	18: 37,277,628 (GRCm39)	S203G	probably benign	Het
Pds5a	A	T	5: 65,812,196 (GRCm39)	F309I	probably benign	Het
Pdzd8	G	A	19: 59,333,683 (GRCm39)	L113F	probably benign	Het
Pex12	T	C	11: 83,189,257 (GRCm39)	Y4C	possibly damaging	Het
Ppfibp2	A	G	7: 107,318,448 (GRCm39)	D332G	probably benign	Het
Psg23	A	T	7: 18,344,547 (GRCm39)	W303R	probably damaging	Het
Pyy	T	A	11: 101,998,099 (GRCm39)	D27V	probably damaging	Het
Rc3h1	A	G	1: 160,770,234 (GRCm39)	Q302R	probably damaging	Het
Rhoh	A	G	5: 66,049,656 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,377,087 (GRCm39)	M58T	probably damaging	Het
Scaf11	A	C	15: 96,313,808 (GRCm39)	H1324Q	probably damaging	Het
Serinc2	C	A	4: 130,158,133 (GRCm39)	A105S	probably damaging	Het
Setx	A	T	2: 29,036,328 (GRCm39)	S938C	probably damaging	Het
Sgo2a	A	T	1: 58,056,737 (GRCm39)	T974S	probably damaging	Het
Sh3rf1	T	C	8: 61,679,348 (GRCm39)	V130A	probably benign	Het
Slc43a2	T	C	11: 75,434,112 (GRCm39)	F97L	probably damaging	Het
Slc9a9	C	A	9: 95,111,107 (GRCm39)	Q642K	probably benign	Het
Sox6	G	T	7: 115,076,225 (GRCm39)	D804E	probably benign	Het
Tent4a	A	G	13: 69,655,199 (GRCm39)	L425P	probably damaging	Het
Terf2	A	G	8: 107,821,543 (GRCm39)	S176P	probably damaging	Het
Ttc6	A	T	12: 57,720,602 (GRCm39)	H956L	possibly damaging	Het
Tti2	T	C	8: 31,644,279 (GRCm39)	V292A	probably damaging	Het
Vmn1r29	A	T	6: 58,284,739 (GRCm39)	E153V	probably benign	Het
Vmn1r55	G	T	7: 5,149,669 (GRCm39)	H251Q	probably benign	Het
Yeats4	T	C	10: 117,051,586 (GRCm39)	T224A	probably benign	Het
Yipf4	T	A	17: 74,806,078 (GRCm39)	F239Y	probably benign	Het
Zan	T	C	5: 137,466,717 (GRCm39)	D380G	probably damaging	Het
Zbtb9	T	C	17: 27,193,894 (GRCm39)	F433S	probably damaging	Het
Zic5	T	C	14: 122,701,435 (GRCm39)	K432R	unknown	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
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
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'- AAACCCTGGATGTCAGAAGG -3'
(R):5'- TTCTGAGTCAGTGCAGTTGC -3'

Sequencing Primer
(F):5'- AGTTACACATCTGGGTGCC -3'
(R):5'- GCAGTTGCAGAGTTACAAGCATTC -3'

Posted On

2022-10-06