Incidental Mutation 'IGL00695:Hspbap1'
ID11372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspbap1
Ensembl Gene ENSMUSG00000022849
Gene NameHspb associated protein 1
Synonyms3830421G21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00695
Quality Score
Status
Chromosome16
Chromosomal Location35770375-35828477 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 35814061 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023555] [ENSMUST00000231579]
Predicted Effect probably benign
Transcript: ENSMUST00000023555
SMART Domains Protein: ENSMUSP00000023555
Gene: ENSMUSG00000022849

DomainStartEndE-ValueType
JmjC 126 288 1.29e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231579
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 encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 4 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 G A 3: 138,221,734 V14I probably benign Het
Exoc3 C T 13: 74,206,906 probably null Het
Hook3 T C 8: 26,059,250 T189A possibly damaging Het
Serpinc1 T C 1: 160,993,400 F18S probably damaging Het
Other mutations in Hspbap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01377:Hspbap1 APN 16 35825311 missense possibly damaging 0.48
IGL03070:Hspbap1 APN 16 35818726 missense probably damaging 0.96
R1099:Hspbap1 UTSW 16 35824944 missense probably damaging 0.99
R1346:Hspbap1 UTSW 16 35801665 missense probably damaging 1.00
R1532:Hspbap1 UTSW 16 35825303 missense probably damaging 1.00
R1848:Hspbap1 UTSW 16 35818764 critical splice donor site probably null
R1867:Hspbap1 UTSW 16 35801564 missense possibly damaging 0.77
R4512:Hspbap1 UTSW 16 35787241 missense probably damaging 0.98
R4718:Hspbap1 UTSW 16 35787322 missense probably benign 0.07
R5553:Hspbap1 UTSW 16 35801597 missense probably damaging 1.00
R5590:Hspbap1 UTSW 16 35801663 missense probably damaging 1.00
R6151:Hspbap1 UTSW 16 35817222 missense probably damaging 1.00
R6612:Hspbap1 UTSW 16 35801591 missense probably damaging 1.00
R7253:Hspbap1 UTSW 16 35817230 missense unknown
R7314:Hspbap1 UTSW 16 35825171 missense probably benign 0.00
Posted On2012-12-06