Incidental Mutation 'R4158:Eomes'
ID 315631
Institutional Source Beutler Lab
Gene Symbol Eomes
Ensembl Gene ENSMUSG00000032446
Gene Name eomesodermin
Synonyms Tbr2
MMRRC Submission 041001-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4158 (G1)
Quality Score 85
Status Validated
Chromosome 9
Chromosomal Location 118307259-118315176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118308031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 35 (T35A)
Ref Sequence ENSEMBL: ENSMUSP00000118079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035020] [ENSMUST00000111763] [ENSMUST00000150633]
AlphaFold O54839
Predicted Effect probably benign
Transcript: ENSMUST00000035020
AA Change: T102A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035020
Gene: ENSMUSG00000032446
AA Change: T102A

DomainStartEndE-ValueType
low complexity region 73 96 N/A INTRINSIC
low complexity region 127 134 N/A INTRINSIC
low complexity region 211 240 N/A INTRINSIC
low complexity region 246 266 N/A INTRINSIC
TBOX 268 463 7.3e-120 SMART
Pfam:T-box_assoc 484 705 1.6e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111763
AA Change: T102A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107393
Gene: ENSMUSG00000032446
AA Change: T102A

DomainStartEndE-ValueType
low complexity region 73 96 N/A INTRINSIC
low complexity region 127 134 N/A INTRINSIC
low complexity region 211 240 N/A INTRINSIC
low complexity region 246 266 N/A INTRINSIC
TBOX 268 463 5.53e-120 SMART
Blast:TBOX 485 511 6e-8 BLAST
low complexity region 648 659 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150633
AA Change: T35A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118079
Gene: ENSMUSG00000032446
AA Change: T35A

DomainStartEndE-ValueType
low complexity region 6 29 N/A INTRINSIC
low complexity region 60 67 N/A INTRINSIC
low complexity region 144 173 N/A INTRINSIC
low complexity region 179 199 N/A INTRINSIC
TBOX 201 395 8.01e-117 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (38/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality, fail to implant, and lack trophoectoderm outgrowth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,103,854 (GRCm39) H597R probably damaging Het
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arg1 T C 10: 24,798,575 (GRCm39) E25G probably damaging Het
Arhgef19 T C 4: 140,973,660 (GRCm39) I49T possibly damaging Het
Bsn A G 9: 107,990,145 (GRCm39) V1869A possibly damaging Het
Cep350 G A 1: 155,808,621 (GRCm39) R652W probably damaging Het
Cyp19a1 G A 9: 54,093,980 (GRCm39) T94I probably damaging Het
Dnajc13 G A 9: 104,067,641 (GRCm39) L1173F probably damaging Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Efcab14 A C 4: 115,597,594 (GRCm39) D63A probably damaging Het
Fbxl20 T C 11: 97,986,220 (GRCm39) probably benign Het
Flcn T C 11: 59,691,947 (GRCm39) N234S probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Il22b T C 10: 118,129,037 (GRCm39) T151A probably damaging Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Mocos T C 18: 24,807,303 (GRCm39) I345T probably damaging Het
Nox4 A T 7: 87,046,032 (GRCm39) H557L possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Ppp6r3 T A 19: 3,562,037 (GRCm39) H208L probably damaging Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Sec31b T C 19: 44,513,625 (GRCm39) N470S probably benign Het
Slc26a7 T C 4: 14,544,197 (GRCm39) T369A probably benign Het
Tex14 T G 11: 87,407,595 (GRCm39) S900R probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zfp981 T A 4: 146,622,339 (GRCm39) H421Q probably benign Het
Other mutations in Eomes
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Eomes APN 9 118,311,334 (GRCm39) missense probably damaging 1.00
IGL01322:Eomes APN 9 118,313,898 (GRCm39) missense probably benign 0.14
IGL01532:Eomes APN 9 118,311,317 (GRCm39) missense probably damaging 1.00
R0088:Eomes UTSW 9 118,307,741 (GRCm39) missense probably damaging 0.99
R0305:Eomes UTSW 9 118,313,825 (GRCm39) missense probably benign 0.11
R0894:Eomes UTSW 9 118,311,368 (GRCm39) splice site probably null
R1110:Eomes UTSW 9 118,313,667 (GRCm39) missense probably benign 0.29
R1326:Eomes UTSW 9 118,313,565 (GRCm39) nonsense probably null
R1942:Eomes UTSW 9 118,313,716 (GRCm39) missense probably benign 0.01
R2108:Eomes UTSW 9 118,307,920 (GRCm39) missense probably benign 0.09
R2237:Eomes UTSW 9 118,311,359 (GRCm39) missense probably damaging 1.00
R2238:Eomes UTSW 9 118,311,359 (GRCm39) missense probably damaging 1.00
R2239:Eomes UTSW 9 118,311,359 (GRCm39) missense probably damaging 1.00
R3915:Eomes UTSW 9 118,310,341 (GRCm39) missense probably benign 0.01
R5274:Eomes UTSW 9 118,309,597 (GRCm39) missense probably damaging 1.00
R6894:Eomes UTSW 9 118,310,353 (GRCm39) missense probably damaging 1.00
R7055:Eomes UTSW 9 118,309,567 (GRCm39) missense possibly damaging 0.57
R7115:Eomes UTSW 9 118,313,557 (GRCm39) missense probably benign 0.00
R7962:Eomes UTSW 9 118,307,574 (GRCm39) unclassified probably benign
R8053:Eomes UTSW 9 118,309,621 (GRCm39) missense probably damaging 1.00
R8346:Eomes UTSW 9 118,314,036 (GRCm39) missense probably benign 0.07
R9060:Eomes UTSW 9 118,311,364 (GRCm39) makesense probably null
R9409:Eomes UTSW 9 118,314,069 (GRCm39) missense probably benign 0.23
R9443:Eomes UTSW 9 118,313,640 (GRCm39) missense
X0021:Eomes UTSW 9 118,311,326 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTTCTACTCGCTGGAGAG -3'
(R):5'- TGGAATTTGAGCCATAGGGG -3'

Sequencing Primer
(F):5'- TCGCTGGAGAGTGCTCG -3'
(R):5'- CGTAGAGCGGAGAACCCTG -3'
Posted On 2015-05-14