Incidental Mutation 'IGL00691:Ebag9'
ID 13435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ebag9
Ensembl Gene ENSMUSG00000022339
Gene Name estrogen receptor-binding fragment-associated gene 9
Synonyms Rcas1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL00691
Quality Score
Status
Chromosome 15
Chromosomal Location 44482571-44504911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44490987 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D0V7
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
Acvr1 T C 2: 58,337,585 (GRCm39) D499G probably benign Het
Agl G T 3: 116,572,907 (GRCm39) Q811K possibly damaging Het
Col6a4 C A 9: 105,934,606 (GRCm39) G1435C probably damaging Het
Dhx15 T C 5: 52,327,435 (GRCm39) Y303C probably damaging Het
Garre1 C T 7: 33,944,910 (GRCm39) V657M probably damaging Het
Lrrd1 T G 5: 3,913,929 (GRCm39) I733S probably damaging Het
Mroh8 T C 2: 157,080,227 (GRCm39) probably benign Het
Nr3c2 C T 8: 77,636,219 (GRCm39) S440F possibly damaging Het
St3gal4 A G 9: 34,964,365 (GRCm39) probably benign Het
Tle2 A G 10: 81,417,573 (GRCm39) D246G probably benign Het
Vipr2 A G 12: 116,102,368 (GRCm39) probably null Het
Zfp711 G A X: 111,534,508 (GRCm39) R284Q probably damaging Het
Zzz3 C A 3: 152,134,151 (GRCm39) T403K probably benign Het
Other mutations in Ebag9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02954:Ebag9 APN 15 44,493,601 (GRCm39) missense probably benign 0.00
R2078:Ebag9 UTSW 15 44,500,200 (GRCm39) missense probably damaging 1.00
R3499:Ebag9 UTSW 15 44,493,528 (GRCm39) missense probably benign 0.00
R4369:Ebag9 UTSW 15 44,491,865 (GRCm39) missense probably benign 0.00
R4571:Ebag9 UTSW 15 44,500,158 (GRCm39) critical splice acceptor site probably null
R4852:Ebag9 UTSW 15 44,487,915 (GRCm39) missense probably damaging 0.99
R5496:Ebag9 UTSW 15 44,503,816 (GRCm39) makesense probably null
R7736:Ebag9 UTSW 15 44,491,800 (GRCm39) missense probably damaging 1.00
R9006:Ebag9 UTSW 15 44,503,703 (GRCm39) missense probably benign 0.39
R9187:Ebag9 UTSW 15 44,503,706 (GRCm39) missense probably damaging 0.97
R9733:Ebag9 UTSW 15 44,491,033 (GRCm39) critical splice donor site probably null
Posted On 2012-12-06