Incidental Mutation 'R5423:T'
ID 426728
Institutional Source Beutler Lab
Gene Symbol T
Ensembl Gene ENSMUSG00000062327
Gene Name brachyury, T-box transcription factor T
Synonyms Tbxt, Bra, T1
MMRRC Submission 042989-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R5423 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 8653255-8661328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8660597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 403 (Y403H)
Ref Sequence ENSEMBL: ENSMUSP00000074236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074667] [ENSMUST00000136922] [ENSMUST00000177118]
AlphaFold P20293
Predicted Effect probably damaging
Transcript: ENSMUST00000074667
AA Change: Y403H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074236
Gene: ENSMUSG00000062327
AA Change: Y403H

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
SMART Domains Protein: ENSMUSP00000135526
Gene: ENSMUSG00000062327

DomainStartEndE-ValueType
TBOX 1 82 3.3e-7 SMART
Meta Mutation Damage Score 0.2957 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (60/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Adamts9 A G 6: 92,857,678 (GRCm39) I289T possibly damaging Het
Ak4 T G 4: 101,317,760 (GRCm39) I110S probably damaging Het
Arhgap9 T G 10: 127,165,418 (GRCm39) I609S probably damaging Het
Arid4a C A 12: 71,116,634 (GRCm39) S242* probably null Het
Ceacam1 T G 7: 25,173,951 (GRCm39) I235L probably benign Het
Chil3 T C 3: 106,055,978 (GRCm39) D365G probably damaging Het
Ckap2 A C 8: 22,667,212 (GRCm39) S216R probably benign Het
Cyp2e1 G T 7: 140,350,031 (GRCm39) V239L probably benign Het
Dnah7b T A 1: 46,397,431 (GRCm39) M3954K probably benign Het
Ercc6l2 A T 13: 64,020,072 (GRCm39) probably benign Het
Etv5 T C 16: 22,202,404 (GRCm39) D468G probably damaging Het
Fbxo44 T A 4: 148,238,686 (GRCm39) I213F probably benign Het
Gm5084 A G 13: 60,360,356 (GRCm39) noncoding transcript Het
Gpr17 G A 18: 32,080,694 (GRCm39) T123I probably damaging Het
Grin3a A G 4: 49,770,376 (GRCm39) probably benign Het
H2-D1 T G 17: 35,484,883 (GRCm39) L248R probably damaging Het
Hmcn1 T C 1: 150,577,723 (GRCm39) I2013V probably damaging Het
Hp1bp3 A T 4: 137,953,208 (GRCm39) D84V probably damaging Het
Ift140 T C 17: 25,252,059 (GRCm39) F33S probably damaging Het
Inhbc C G 10: 127,193,296 (GRCm39) C240S probably damaging Het
Iqgap1 T A 7: 80,449,610 (GRCm39) E62V probably damaging Het
Kcna4 G A 2: 107,126,151 (GRCm39) W295* probably null Het
Kdm4a C T 4: 117,996,105 (GRCm39) A975T probably damaging Het
Lrrtm3 T C 10: 63,923,931 (GRCm39) D412G possibly damaging Het
Midn A C 10: 79,991,027 (GRCm39) I346L probably benign Het
Ndufa10 C T 1: 92,390,042 (GRCm39) D259N probably benign Het
Nefh C A 11: 4,890,985 (GRCm39) A545S possibly damaging Het
Prpf8 A G 11: 75,399,784 (GRCm39) Y2281C probably damaging Het
Psip1 G A 4: 83,378,367 (GRCm39) probably benign Het
Ptpro G T 6: 137,419,705 (GRCm39) A184S probably damaging Het
Rab37 T A 11: 115,047,853 (GRCm39) I65K possibly damaging Het
Rasgrp4 T C 7: 28,844,561 (GRCm39) L247P probably damaging Het
Rnf20 T C 4: 49,644,620 (GRCm39) V295A probably damaging Het
Serpina3g A G 12: 104,204,253 (GRCm39) probably benign Het
Shox2 A G 3: 66,881,087 (GRCm39) probably benign Het
Skint6 T G 4: 112,707,937 (GRCm39) D977A possibly damaging Het
Slc25a23 C T 17: 57,360,597 (GRCm39) V248M probably damaging Het
Slco1a7 T A 6: 141,690,188 (GRCm39) K188N probably damaging Het
Smg1 A T 7: 117,745,294 (GRCm39) D3008E possibly damaging Het
St18 A G 1: 6,872,840 (GRCm39) S192G possibly damaging Het
Supt20 T A 3: 54,616,746 (GRCm39) V306E probably damaging Het
Tars3 C A 7: 65,333,567 (GRCm39) N588K probably benign Het
Tmem132c T C 5: 127,640,907 (GRCm39) V1026A probably benign Het
Trpv4 T C 5: 114,774,506 (GRCm39) T193A probably benign Het
Ubqln4 A G 3: 88,470,506 (GRCm39) N326S probably damaging Het
Uggt2 G A 14: 119,256,898 (GRCm39) T1112I probably damaging Het
Vasn C T 16: 4,466,284 (GRCm39) P77L probably benign Het
Vps9d1 A C 8: 123,974,704 (GRCm39) probably null Het
Washc4 C A 10: 83,415,418 (GRCm39) Q803K possibly damaging Het
Zcchc2 C T 1: 105,958,430 (GRCm39) T967I probably damaging Het
Zfp874a G A 13: 67,590,473 (GRCm39) L404F possibly damaging Het
Zscan30 T C 18: 24,104,773 (GRCm39) noncoding transcript Het
Other mutations in T
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:T APN 17 8,655,997 (GRCm39) missense probably benign 0.01
IGL01155:T APN 17 8,660,577 (GRCm39) splice site probably null
IGL02343:T APN 17 8,658,732 (GRCm39) splice site probably benign
IGL02626:T APN 17 8,654,069 (GRCm39) missense probably damaging 0.99
IGL02628:T APN 17 8,654,190 (GRCm39) missense probably damaging 1.00
IGL02970:T APN 17 8,654,217 (GRCm39) missense probably damaging 0.97
I2289:T UTSW 17 8,657,474 (GRCm39) missense probably benign
R0097:T UTSW 17 8,658,733 (GRCm39) splice site probably benign
R0097:T UTSW 17 8,658,733 (GRCm39) splice site probably benign
R1164:T UTSW 17 8,658,771 (GRCm39) missense probably benign 0.00
R1993:T UTSW 17 8,660,634 (GRCm39) missense probably benign 0.00
R5148:T UTSW 17 8,655,037 (GRCm39) missense probably damaging 1.00
R5710:T UTSW 17 8,660,474 (GRCm39) missense probably benign 0.00
R6160:T UTSW 17 8,660,618 (GRCm39) missense probably benign 0.00
R6196:T UTSW 17 8,655,996 (GRCm39) missense possibly damaging 0.73
R6447:T UTSW 17 8,660,463 (GRCm39) missense possibly damaging 0.50
R8294:T UTSW 17 8,653,364 (GRCm39) start codon destroyed probably null 0.25
R8813:T UTSW 17 8,653,532 (GRCm39) missense probably benign 0.08
R9802:T UTSW 17 8,654,988 (GRCm39) missense probably damaging 0.99
RF010:T UTSW 17 8,660,540 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATAGCTCATTTGCAGGCCC -3'
(R):5'- AAGAGCCTGCCACTTTGAGC -3'

Sequencing Primer
(F):5'- ATTTGCAGGCCCCTGATG -3'
(R):5'- TGCCACTTTGAGCCTAGAAG -3'
Posted On 2016-09-01