Incidental Mutation 'R6652:Sebox'
Institutional Source Beutler Lab
Gene Symbol Sebox
Ensembl Gene ENSMUSG00000001103
Gene NameSEBOX homeobox
SynonymsOG9, Og9x
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6652 (G1)
Quality Score225.009
Status Validated
Chromosomal Location78503447-78505081 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 78503805 bp
Amino Acid Change Glutamic Acid to Valine at position 32 (E32V)
Ref Sequence ENSEMBL: ENSMUSP00000001130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001130] [ENSMUST00000017488] [ENSMUST00000052566] [ENSMUST00000125670]
Predicted Effect probably damaging
Transcript: ENSMUST00000001130
AA Change: E32V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001130
Gene: ENSMUSG00000001103
AA Change: E32V

HOX 18 80 2.05e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000017488
SMART Domains Protein: ENSMUSP00000017488
Gene: ENSMUSG00000017344

signal peptide 1 19 N/A INTRINSIC
SO 20 62 2.45e-13 SMART
HX 160 203 7.81e-8 SMART
HX 205 251 2.46e-14 SMART
HX 253 303 9.19e-5 SMART
low complexity region 358 400 N/A INTRINSIC
HX 426 473 1.59e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052566
SMART Domains Protein: ENSMUSP00000058599
Gene: ENSMUSG00000051232

Pfam:Vma12 78 204 1e-29 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000125670
AA Change: S35C
SMART Domains Protein: ENSMUSP00000129606
Gene: ENSMUSG00000001103
AA Change: S35C

low complexity region 27 43 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153628
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Adult mice homozygous for a targeted disruption of this gene display normal retinal morphology as well as normal electroretinograms under scotopic and photopic conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,941 D605G probably damaging Het
Cfh A T 1: 140,144,068 I294N probably benign Het
Clk3 A G 9: 57,761,795 S49P probably damaging Het
Cmya5 A G 13: 93,092,895 V1895A probably benign Het
Cmya5 T C 13: 93,093,039 D1847G probably damaging Het
Cwf19l1 T C 19: 44,114,699 D359G probably benign Het
Dag1 A T 9: 108,209,090 M284K probably damaging Het
Ergic2 T C 6: 148,189,581 Y211C probably damaging Het
Espnl A C 1: 91,344,699 I594L probably benign Het
Fam193b A G 13: 55,542,790 S226P probably damaging Het
Fat2 T A 11: 55,252,262 I4254L probably benign Het
Fhdc1 T C 3: 84,464,324 Y108C probably damaging Het
Fut9 G C 4: 25,620,619 T65S probably benign Het
Gm9507 A T 10: 77,811,659 probably benign Het
Gpt2 G A 8: 85,518,052 E325K probably benign Het
Grap2 A T 15: 80,648,522 N297Y probably damaging Het
Igfn1 A G 1: 135,963,871 F2302S probably damaging Het
Ighv1-81 T A 12: 115,920,431 I67F probably damaging Het
Kidins220 T A 12: 25,010,060 probably null Het
Kti12 T A 4: 108,848,533 S215T probably benign Het
Mc1r G A 8: 123,407,631 G41D probably damaging Het
Mov10l1 A G 15: 88,993,902 Y129C probably damaging Het
Mthfsd A T 8: 121,098,821 L337Q probably damaging Het
Musk C T 4: 58,368,977 A629V probably damaging Het
Nadsyn1 A T 7: 143,811,218 M250K probably benign Het
Ncapd2 G A 6: 125,186,270 H92Y probably benign Het
Olfr1507 C T 14: 52,490,793 R57Q probably benign Het
Olfr220 G A 1: 174,449,061 C146Y probably damaging Het
Plec A T 15: 76,179,774 V2100E probably damaging Het
Prss37 C A 6: 40,519,156 probably benign Het
Senp7 C A 16: 56,123,894 Q194K probably benign Het
Sfxn3 G A 19: 45,049,915 probably null Het
Spg20 G A 3: 55,124,827 E361K probably benign Het
Stn1 T C 19: 47,507,578 T334A probably benign Het
Stoml1 A G 9: 58,256,734 D112G probably damaging Het
Thap2 T A 10: 115,376,536 D28V probably damaging Het
Ubap2 A T 4: 41,196,743 N872K possibly damaging Het
Vezt A G 10: 93,970,279 F757L probably damaging Het
Vmn1r204 T C 13: 22,556,403 I68T probably damaging Het
Wnt10a A G 1: 74,803,454 probably null Het
Yipf7 A G 5: 69,541,161 M1T probably null Het
Zdhhc19 T C 16: 32,497,229 F48S probably damaging Het
Zfp317 C T 9: 19,647,039 T183I probably damaging Het
Other mutations in Sebox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02889:Sebox APN 11 78504330 missense probably benign
R1184:Sebox UTSW 11 78503849 missense probably damaging 1.00
R3853:Sebox UTSW 11 78504149 missense probably benign
R5924:Sebox UTSW 11 78504191 splice site probably null
R7709:Sebox UTSW 11 78504093 missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-07-24