Incidental Mutation 'R1164:T'
ID100865
Institutional Source Beutler Lab
Gene Symbol T
Ensembl Gene ENSMUSG00000062327
Gene Namebrachyury, T-box transcription factor T
SynonymsBra, cou, Low, low ratio, Lr, me75, T1, Tl2, Tl3
MMRRC Submission 039237-MU
Accession Numbers

Genbank: NM_009309.2

Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock #R1164 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location8434423-8442496 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8439939 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 171 (S171P)
Ref Sequence ENSEMBL: ENSMUSP00000135526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074667] [ENSMUST00000136922] [ENSMUST00000177118]
Predicted Effect probably benign
Transcript: ENSMUST00000074667
AA Change: S312P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000074236
Gene: ENSMUSG00000062327
AA Change: S312P

DomainStartEndE-ValueType
TBOX 41 224 5.53e-120 SMART
low complexity region 391 400 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136922
SMART Domains Protein: ENSMUSP00000119581
Gene: ENSMUSG00000062327

DomainStartEndE-ValueType
TBOX 1 137 3.02e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177118
AA Change: S171P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135526
Gene: ENSMUSG00000062327
AA Change: S171P

DomainStartEndE-ValueType
TBOX 1 82 3.3e-7 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mice die during embryonice development. Heterozygous mice have skeletal abnormalities. On specific genetic backgrounds, some alleles cause partial or complete sex-reversal of chromosomally XY mice. [provided by MGI curators]
Allele List at MGI

All alleles(40) : Targeted, other(2) Transgenic(1) Spontaneous(17) Chemically induced(10) Radiation induced(15)

Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,402,331 M1055K probably damaging Het
Adprh A T 16: 38,450,340 D34E probably benign Het
Aldh1a1 A T 19: 20,617,946 M80L probably benign Het
Arap2 T A 5: 62,683,477 D682V probably damaging Het
Atp4a T A 7: 30,717,692 L500Q probably benign Het
Atp6v1c2 T C 12: 17,308,316 E10G probably damaging Het
B4galt2 G A 4: 117,876,944 R299W possibly damaging Het
Brinp1 A C 4: 68,798,691 S307A probably benign Het
Cacna2d1 G A 5: 16,361,876 probably null Het
Ccdc3 T C 2: 5,141,266 V137A possibly damaging Het
Ccnb1ip1 T C 14: 50,792,137 K156R possibly damaging Het
Cfap77 A T 2: 28,962,688 W191R probably damaging Het
Chga A G 12: 102,563,045 E427G probably damaging Het
Chrnd A T 1: 87,192,545 Y32F probably benign Het
Cks1b C A 3: 89,415,942 probably benign Het
Creld2 G A 15: 88,820,631 W103* probably null Het
Dip2a C A 10: 76,276,397 R1098L possibly damaging Het
Dmbx1 T A 4: 115,918,258 H275L probably damaging Het
Dmrt2 A G 19: 25,677,993 M319V possibly damaging Het
Dock8 A G 19: 25,090,027 Y345C probably benign Het
Dpp6 A G 5: 27,721,105 T668A probably benign Het
Eef1d A G 15: 75,902,677 probably null Het
Epb41l3 A G 17: 69,274,767 T568A possibly damaging Het
Erc2 A G 14: 28,302,972 R603G probably damaging Het
Fam83d T C 2: 158,783,250 S254P probably damaging Het
Fcgr4 A T 1: 171,029,170 H202L possibly damaging Het
Gm38394 G A 1: 133,659,203 T132I probably damaging Het
Gm4922 C T 10: 18,783,721 A418T possibly damaging Het
Kmo A G 1: 175,658,559 H416R probably benign Het
Lao1 A G 4: 118,965,405 N174S probably benign Het
Lrwd1 A T 5: 136,130,990 H406Q probably benign Het
Magoh A G 4: 107,887,262 I143V probably benign Het
Mpz A G 1: 171,158,439 H49R possibly damaging Het
Nav1 T C 1: 135,472,410 N474S probably benign Het
Ndufb10 T G 17: 24,722,783 E68D probably benign Het
Obscn T C 11: 59,036,087 D5534G possibly damaging Het
Olfr1076 C A 2: 86,508,684 T75K probably damaging Het
Olfr126 T A 17: 37,850,684 F31I probably damaging Het
Olfr1425 A T 19: 12,074,241 Y130* probably null Het
Olfr159 T C 4: 43,770,991 T7A probably benign Het
Olfr345 A T 2: 36,640,120 Y27F probably benign Het
Olfr685 A T 7: 105,180,833 F160Y probably benign Het
Padi1 A T 4: 140,832,329 V79E possibly damaging Het
Pdha2 A G 3: 141,211,499 Y83H probably damaging Het
Phpt1 A G 2: 25,574,715 I42T probably damaging Het
Pot1b A C 17: 55,674,085 S310A probably benign Het
Ptpn13 G A 5: 103,489,773 V176I probably damaging Het
Ptprf A G 4: 118,257,492 S189P probably damaging Het
Rere A T 4: 150,534,884 Q381L unknown Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Scn8a G A 15: 101,040,162 C1804Y probably benign Het
Sema3c G A 5: 17,678,314 D307N probably benign Het
Siah2 T C 3: 58,676,316 E183G probably benign Het
Smarca5 G A 8: 80,710,631 L699F probably damaging Het
Smo T A 6: 29,754,719 S263T probably benign Het
Sox2 A G 3: 34,650,699 E95G probably damaging Het
Tmc7 G T 7: 118,542,024 A628D probably benign Het
Tmem45a2 A G 16: 57,049,426 S52P probably damaging Het
Tubb3 C T 8: 123,421,447 A373V probably damaging Het
Uhrf1bp1 T C 17: 27,895,380 probably null Het
Upp2 A G 2: 58,763,704 Y69C probably damaging Het
Utp4 A G 8: 106,900,844 probably null Het
Vmn1r59 T A 7: 5,454,411 M117L probably benign Het
Xkr8 T C 4: 132,732,411 S19G probably benign Het
Zbtb24 T C 10: 41,464,527 Y518H probably damaging Het
Zfp324 T C 7: 12,971,624 I580T probably benign Het
Zfp995 G A 17: 21,879,979 H425Y probably damaging Het
Other mutations in T
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:T APN 17 8437165 missense probably benign 0.01
IGL01155:T APN 17 8441745 splice site probably null
IGL02343:T APN 17 8439900 splice site probably benign
IGL02626:T APN 17 8435237 missense probably damaging 0.99
IGL02628:T APN 17 8435358 missense probably damaging 1.00
IGL02970:T APN 17 8435385 missense probably damaging 0.97
I2289:T UTSW 17 8438642 missense probably benign
R0097:T UTSW 17 8439901 splice site probably benign
R0097:T UTSW 17 8439901 splice site probably benign
R1993:T UTSW 17 8441802 missense probably benign 0.00
R5148:T UTSW 17 8436205 missense probably damaging 1.00
R5423:T UTSW 17 8441765 missense probably damaging 1.00
R5710:T UTSW 17 8441642 missense probably benign 0.00
R6160:T UTSW 17 8441786 missense probably benign 0.00
R6196:T UTSW 17 8437164 missense possibly damaging 0.73
R6447:T UTSW 17 8441631 missense possibly damaging 0.50
R8294:T UTSW 17 8434532 start codon destroyed probably null 0.25
RF010:T UTSW 17 8441708 missense probably benign
Predicted Primers
Posted On2014-01-15