Incidental Mutation 'R3915:Eomes'
ID 309600
Institutional Source Beutler Lab
Gene Symbol Eomes
Ensembl Gene ENSMUSG00000032446
Gene Name eomesodermin
Synonyms Tbr2
MMRRC Submission 040913-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3915 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 118307259-118315176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118310341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 351 (M351V)
Ref Sequence ENSEMBL: ENSMUSP00000107393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035020] [ENSMUST00000111763] [ENSMUST00000150633]
AlphaFold O54839
Predicted Effect probably benign
Transcript: ENSMUST00000035020
AA Change: M351V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000035020
Gene: ENSMUSG00000032446
AA Change: M351V

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: M351V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000107393
Gene: ENSMUSG00000032446
AA Change: M351V

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: M284V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000118079
Gene: ENSMUSG00000032446
AA Change: M284V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212286
Meta Mutation Damage Score 0.1004 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (43/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik G A 5: 3,627,248 (GRCm39) V75I possibly damaging Het
AA986860 A G 1: 130,670,344 (GRCm39) K189E probably benign Het
Abcf1 C T 17: 36,270,402 (GRCm39) R596H possibly damaging Het
Abtb3 C A 10: 85,468,134 (GRCm39) H810N probably damaging Het
Axl T C 7: 25,460,169 (GRCm39) probably benign Het
Birc6 A G 17: 74,886,603 (GRCm39) K644E probably benign Het
Btnl7-ps T A 17: 34,760,489 (GRCm39) noncoding transcript Het
Car8 A T 4: 8,184,576 (GRCm39) probably benign Het
Ccdc62 C T 5: 124,092,778 (GRCm39) R588C probably damaging Het
Clasp2 T G 9: 113,737,805 (GRCm39) S374A probably damaging Het
Ctnnb1 A G 9: 120,784,717 (GRCm39) H503R probably benign Het
Cwf19l2 A G 9: 3,456,776 (GRCm39) H703R probably damaging Het
Efcab7 A T 4: 99,735,375 (GRCm39) Q133L probably damaging Het
Ehmt2 T C 17: 35,122,443 (GRCm39) S280P probably damaging Het
Eif4a3l1 A T 6: 136,306,420 (GRCm39) T294S probably benign Het
Ets2 G A 16: 95,520,037 (GRCm39) R421H probably damaging Het
Fam222b C G 11: 78,045,756 (GRCm39) P439R probably benign Het
Gbp11 T A 5: 105,478,978 (GRCm39) K153N probably damaging Het
Golim4 T C 3: 75,810,634 (GRCm39) T174A probably damaging Het
Grid1 A G 14: 35,242,684 (GRCm39) Y679C probably damaging Het
Gvin-ps5 A G 7: 105,929,445 (GRCm39) S151P probably benign Het
Ikzf3 T C 11: 98,381,412 (GRCm39) D56G probably damaging Het
Kcnj16 A G 11: 110,916,382 (GRCm39) D348G probably benign Het
Kidins220 T C 12: 25,103,957 (GRCm39) L1319P possibly damaging Het
Lrp1b T A 2: 41,339,248 (GRCm39) D751V probably damaging Het
Macc1 T C 12: 119,410,551 (GRCm39) C440R probably benign Het
Mbd2 T C 18: 70,755,680 (GRCm39) V382A probably benign Het
Or13a17 T A 7: 140,270,888 (GRCm39) D23E probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Or6c68 G A 10: 129,158,178 (GRCm39) A229T probably benign Het
Pgs1 T G 11: 117,910,472 (GRCm39) S528A probably benign Het
Pitpnm3 T C 11: 72,003,110 (GRCm39) T67A probably damaging Het
Pnliprp2 T G 19: 58,748,794 (GRCm39) V33G probably damaging Het
Ptn T C 6: 36,720,282 (GRCm39) N90S probably damaging Het
Ptprt A T 2: 161,397,475 (GRCm39) probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrp1 G A 2: 117,119,122 (GRCm39) S505F probably damaging Het
Sesn1 G A 10: 41,770,886 (GRCm39) R139H probably benign Het
Slc17a7 T A 7: 44,818,144 (GRCm39) L23Q probably damaging Het
Slc30a10 G T 1: 185,187,333 (GRCm39) E25* probably null Het
Smco1 A G 16: 32,092,583 (GRCm39) I85V probably benign Het
Vmn1r76 A T 7: 11,664,496 (GRCm39) S239R probably benign Het
Zc3h7a A T 16: 10,974,074 (GRCm39) V237D possibly damaging 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
R4158:Eomes UTSW 9 118,308,031 (GRCm39) missense probably benign
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'- GAGGCTGGTGATTGGAATACC -3'
(R):5'- GGATGAGCTGTCCAAGAGAC -3'

Sequencing Primer
(F):5'- TTAAGGAAGGCTGGATGCACCC -3'
(R):5'- GCTGTCCAAGAGACCCCGAC -3'
Posted On 2015-04-17