Incidental Mutation 'R8129:Tbx15'
ID 631886
Institutional Source Beutler Lab
Gene Symbol Tbx15
Ensembl Gene ENSMUSG00000027868
Gene Name T-box 15
Synonyms Tbx8, de, Tbx14
MMRRC Submission 067558-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R8129 (G1)
Quality Score 204.009
Status Validated
Chromosome 3
Chromosomal Location 99147697-99261575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 99161254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 20 (V20F)
Ref Sequence ENSEMBL: ENSMUSP00000029462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029462] [ENSMUST00000151606]
AlphaFold O70306
Predicted Effect probably damaging
Transcript: ENSMUST00000029462
AA Change: V20F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: V20F

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000151606
SMART Domains Protein: ENSMUSP00000143417
Gene: ENSMUSG00000027868

DomainStartEndE-ValueType
Pfam:T-box 8 51 1.1e-17 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 85.2%
Validation Efficiency 98% (99/101)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,266,187 (GRCm39) D161G probably damaging Het
Adamts19 T C 18: 59,140,559 (GRCm39) probably null Het
Ahnak A T 19: 8,977,464 (GRCm39) M1L not run Het
Appl1 A G 14: 26,671,466 (GRCm39) S329P possibly damaging Het
Bach1 C T 16: 87,519,314 (GRCm39) R535W possibly damaging Het
Bicc1 T C 10: 70,915,033 (GRCm39) D77G probably benign Het
Bub1b T A 2: 118,468,975 (GRCm39) D913E probably benign Het
Cdhr2 G T 13: 54,864,208 (GRCm39) probably null Het
Col25a1 T C 3: 130,290,050 (GRCm39) S247P probably damaging Het
Commd8 T C 5: 72,320,164 (GRCm39) M126V unknown Het
Dpysl4 C T 7: 138,666,076 (GRCm39) T13M probably benign Het
Epc1 A G 18: 6,439,634 (GRCm39) V776A possibly damaging Het
Fancg G T 4: 43,005,036 (GRCm39) probably null Het
Fdx1 T C 9: 51,859,926 (GRCm39) T135A probably benign Het
Fgf7 T C 2: 125,877,765 (GRCm39) V44A probably benign Het
Fgfr3 A T 5: 33,891,250 (GRCm39) M523L probably damaging Het
Focad A T 4: 88,151,000 (GRCm39) H548L unknown Het
Ftsj3 C A 11: 106,144,657 (GRCm39) V111F probably benign Het
Gm28168 T A 1: 117,857,483 (GRCm39) D12E probably damaging Het
Gprin3 T C 6: 59,330,844 (GRCm39) T488A probably benign Het
Hormad2 C A 11: 4,296,648 (GRCm39) V279L probably benign Het
Hs6st1 A G 1: 36,108,105 (GRCm39) K123E probably damaging Het
Ice1 A G 13: 70,754,320 (GRCm39) S589P probably benign Het
Il1r1 T A 1: 40,341,447 (GRCm39) H286Q probably benign Het
Il1rl1 T A 1: 40,490,987 (GRCm39) C423S probably damaging Het
L1td1 A T 4: 98,621,563 (GRCm39) M42L probably benign Het
Large1 T C 8: 73,542,585 (GRCm39) D713G probably damaging Het
Llgl2 C A 11: 115,741,737 (GRCm39) probably null Het
Lrp2 C T 2: 69,260,624 (GRCm39) V4536M possibly damaging Het
Map3k19 A C 1: 127,750,420 (GRCm39) L977R possibly damaging Het
Myo15a A T 11: 60,399,026 (GRCm39) D1617V Het
Nek3 A G 8: 22,639,908 (GRCm39) I189T probably damaging Het
Nrap C T 19: 56,355,068 (GRCm39) probably null Het
Omd A C 13: 49,745,565 (GRCm39) D325A probably damaging Het
Or1x6 G A 11: 50,939,210 (GRCm39) R92K probably benign Het
Or4a76 C A 2: 89,460,792 (GRCm39) G150V probably damaging Het
Or52h7 A G 7: 104,213,584 (GRCm39) Y52C probably benign Het
Or5b118 A T 19: 13,448,508 (GRCm39) Y16F probably damaging Het
Pabpc6 C T 17: 9,887,427 (GRCm39) V375I possibly damaging Het
Pcdha5 A G 18: 37,094,832 (GRCm39) D447G probably damaging Het
Pla2r1 A T 2: 60,262,944 (GRCm39) W1032R probably damaging Het
Ppp2r5d T C 17: 46,995,263 (GRCm39) Y524C probably benign Het
Ppp4r3b T C 11: 29,159,364 (GRCm39) Y573H probably damaging Het
Prune2 T C 19: 17,096,200 (GRCm39) I568T probably benign Het
Ptpn22 G A 3: 103,797,600 (GRCm39) probably null Het
Rbm12b1 A G 4: 12,145,549 (GRCm39) D507G probably damaging Het
Rdh7 A G 10: 127,723,370 (GRCm39) S162P probably benign Het
Rreb1 C T 13: 38,113,775 (GRCm39) A378V probably benign Het
Scaf11 A G 15: 96,317,350 (GRCm39) F738S probably damaging Het
Sdk1 C A 5: 142,177,648 (GRCm39) N2031K probably benign Het
Serpina3c A T 12: 104,118,056 (GRCm39) L94Q probably damaging Het
Sgo2b T C 8: 64,381,834 (GRCm39) S333G possibly damaging Het
Slc22a15 A G 3: 101,822,658 (GRCm39) V88A possibly damaging Het
Smarcad1 G T 6: 65,044,078 (GRCm39) D217Y probably benign Het
Sppl2a A G 2: 126,765,390 (GRCm39) F244S probably damaging Het
Sspo G A 6: 48,443,959 (GRCm39) D2156N possibly damaging Het
Taf2 G A 15: 54,923,384 (GRCm39) R298C probably damaging Het
Tap2 C T 17: 34,424,672 (GRCm39) T135I probably benign Het
Tes A T 6: 17,065,242 (GRCm39) probably benign Het
Tmem39b A T 4: 129,572,468 (GRCm39) M378K probably damaging Het
Trim44 A G 2: 102,230,848 (GRCm39) V61A unknown Het
Ttll5 T C 12: 85,937,858 (GRCm39) probably null Het
Tubgcp4 C T 2: 121,004,109 (GRCm39) T50I possibly damaging Het
Txndc17 G A 11: 72,098,588 (GRCm39) V47M probably damaging Het
Ubp1 A G 9: 113,804,417 (GRCm39) E494G possibly damaging Het
Utp20 A T 10: 88,628,487 (GRCm39) S936T probably benign Het
Wdr64 A G 1: 175,603,154 (GRCm39) D585G probably damaging Het
Wdtc1 A T 4: 133,031,460 (GRCm39) probably null Het
Zfp292 A G 4: 34,807,386 (GRCm39) M1891T probably damaging Het
Zfp84 A C 7: 29,475,862 (GRCm39) I185L probably benign Het
Zmym4 A G 4: 126,808,956 (GRCm39) F364L possibly damaging Het
Other mutations in Tbx15
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGTCAGCAGAGTTTGTGAGCG -3'
(R):5'- GGCTCAAGGTATTTATGCCAAG -3'

Sequencing Primer
(F):5'- AGCTGGACTCAGTGCTCCATG -3'
(R):5'- GTATTTATGCCAAGAAAAAGGAACCC -3'
Posted On 2020-06-30