Incidental Mutation 'IGL03070:Hspbap1'
ID417474
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 #IGL03070
Quality Score
Status
Chromosome16
Chromosomal Location35770375-35828477 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 35818726 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 263 (D263E)
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 damaging
Transcript: ENSMUST00000231579
AA Change: D263E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190007I07Rik A T 10: 82,620,116 probably benign Het
Adam3 T C 8: 24,703,784 E404G probably damaging Het
Arid1a A G 4: 133,694,753 S778P unknown Het
Asah2 A T 19: 32,006,344 Y567N probably damaging Het
Crb1 G T 1: 139,241,258 H841N possibly damaging Het
Ehbp1l1 A G 19: 5,715,953 V1454A probably benign Het
Eif3d A G 15: 77,959,643 L501P probably damaging Het
Fam122a A C 19: 24,476,952 D135E probably damaging Het
Fbxo4 A T 15: 3,977,862 S107T possibly damaging Het
Galnt10 T C 11: 57,725,582 Y108H probably damaging Het
Kpna3 T C 14: 61,370,782 probably benign Het
Miox A G 15: 89,336,084 T160A possibly damaging Het
Mlxipl G A 5: 135,132,453 V409M possibly damaging Het
Mrps21 A T 3: 95,870,585 probably benign Het
Muc6 A G 7: 141,644,567 probably benign Het
Mup6 A T 4: 60,003,999 I31F probably damaging Het
Olfr593 A G 7: 103,212,697 H279R probably benign Het
Pgr T A 9: 8,903,664 I562N possibly damaging Het
Prag1 T A 8: 36,103,549 W429R probably benign Het
Prrc2c G T 1: 162,677,409 P2621Q probably damaging Het
Psip1 T G 4: 83,465,081 K232N probably damaging Het
Ryr1 T C 7: 29,070,659 Y2663C probably damaging Het
Trhr2 T A 8: 122,358,603 Q214L probably benign Het
Txndc11 A T 16: 11,075,287 Y860N probably damaging Het
Vmn2r72 C T 7: 85,752,041 probably benign Het
Yif1a T A 19: 5,088,729 H4Q possibly damaging Het
Other mutations in Hspbap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Hspbap1 APN 16 35814061 splice site probably benign
IGL01377:Hspbap1 APN 16 35825311 missense possibly damaging 0.48
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 On2016-08-02