Incidental Mutation 'IGL00691:Ebag9'
ID13435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ebag9
Ensembl Gene ENSMUSG00000022339
Gene Nameestrogen receptor-binding fragment-associated gene 9
SynonymsRcas1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.167) question?
Stock #IGL00691
Quality Score
Status
Chromosome15
Chromosomal Location44619175-44641515 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44627591 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 40 (I40V)
Ref Sequence ENSEMBL: ENSMUSP00000153877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022964] [ENSMUST00000226165] [ENSMUST00000227691] [ENSMUST00000228648]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022964
AA Change: I40V

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022964
Gene: ENSMUSG00000022339
AA Change: I40V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
SCOP:d1uok_2 58 177 8e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000226165
AA Change: I40V

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227691
AA Change: I40V

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000228648
AA Change: I40V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor, which binds to the estrogen-responsive element found in the 5'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Alternate splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 10. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice have decreased susceptibility to bacterial infections and have CD8+ T cells with enhanced cytolytic activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik C T 7: 34,245,485 V657M probably damaging Het
Acvr1 T C 2: 58,447,573 D499G probably benign Het
Agl G T 3: 116,779,258 Q811K possibly damaging Het
Col6a4 C A 9: 106,057,407 G1435C probably damaging Het
Dhx15 T C 5: 52,170,093 Y303C probably damaging Het
Lrrd1 T G 5: 3,863,929 I733S probably damaging Het
Mroh8 T C 2: 157,238,307 probably benign Het
Nr3c2 C T 8: 76,909,590 S440F possibly damaging Het
St3gal4 A G 9: 35,053,069 probably benign Het
Tle2 A G 10: 81,581,739 D246G probably benign Het
Vipr2 A G 12: 116,138,748 probably null Het
Zfp711 G A X: 112,624,811 R284Q probably damaging Het
Zzz3 C A 3: 152,428,514 T403K probably benign Het
Other mutations in Ebag9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02954:Ebag9 APN 15 44630205 missense probably benign 0.00
R2078:Ebag9 UTSW 15 44636804 missense probably damaging 1.00
R3499:Ebag9 UTSW 15 44630132 missense probably benign 0.00
R4369:Ebag9 UTSW 15 44628469 missense probably benign 0.00
R4571:Ebag9 UTSW 15 44636762 critical splice acceptor site probably null
R4852:Ebag9 UTSW 15 44624519 missense probably damaging 0.99
R5496:Ebag9 UTSW 15 44640420 makesense probably null
R7736:Ebag9 UTSW 15 44628404 missense probably damaging 1.00
Posted On2012-12-06