Incidental Mutation 'IGL01377:Hspbap1'
ID 78775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspbap1
Ensembl Gene ENSMUSG00000022849
Gene Name Hspb associated protein 1
Synonyms 3830421G21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01377
Quality Score
Status
Chromosome 16
Chromosomal Location 35590745-35648847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35645681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 455 (D455E)
Ref Sequence ENSEMBL: ENSMUSP00000156217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023555] [ENSMUST00000231579]
AlphaFold Q8BK58
Predicted Effect probably benign
Transcript: ENSMUST00000023555
SMART Domains Protein: ENSMUSP00000023555
Gene: ENSMUSG00000022849

DomainStartEndE-ValueType
JmjC 126 288 1.29e-28 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000231579
AA Change: D455E

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,460,108 (GRCm39) V196D probably damaging Het
Ago1 C T 4: 126,353,610 (GRCm39) V279M probably damaging Het
Bltp1 T C 3: 37,027,601 (GRCm39) probably null Het
Ccdc170 A G 10: 4,510,966 (GRCm39) D675G probably damaging Het
Cdc42bpa T A 1: 179,892,708 (GRCm39) Y291N probably damaging Het
Cdca5 T C 19: 6,140,312 (GRCm39) S158P probably damaging Het
Cdh8 A G 8: 99,760,021 (GRCm39) I576T probably damaging Het
Cpsf2 T A 12: 101,953,640 (GRCm39) probably null Het
Cyc1 C T 15: 76,229,162 (GRCm39) R143* probably null Het
Dcaf6 A T 1: 165,216,293 (GRCm39) S437T probably benign Het
Eif5b A G 1: 38,075,179 (GRCm39) D552G probably benign Het
Epor T C 9: 21,870,593 (GRCm39) D429G probably damaging Het
Farp2 A G 1: 93,531,181 (GRCm39) I560V possibly damaging Het
Fbxw21 T A 9: 108,975,713 (GRCm39) R228* probably null Het
Fyb1 T C 15: 6,609,801 (GRCm39) S125P probably benign Het
Gfm1 A T 3: 67,382,086 (GRCm39) Y720F probably damaging Het
Katnal2 T C 18: 77,090,153 (GRCm39) R285G probably damaging Het
Kif12 G A 4: 63,088,962 (GRCm39) T153I probably damaging Het
Klhl31 T C 9: 77,558,013 (GRCm39) F243S probably benign Het
Large2 A G 2: 92,199,676 (GRCm39) Y208H probably damaging Het
Lrp1b A G 2: 40,491,550 (GRCm39) V239A probably damaging Het
Mblac2 G A 13: 81,898,266 (GRCm39) R214H probably damaging Het
Mlf2 A G 6: 124,911,654 (GRCm39) N168D probably damaging Het
Mtmr6 T A 14: 60,519,483 (GRCm39) Y134* probably null Het
Mtus1 T C 8: 41,536,172 (GRCm39) K515E possibly damaging Het
Nek1 A G 8: 61,542,490 (GRCm39) T718A probably benign Het
Nfx1 A G 4: 40,977,241 (GRCm39) N305S probably benign Het
Nrxn3 T A 12: 89,499,782 (GRCm39) probably null Het
Nsf T C 11: 103,763,473 (GRCm39) D377G probably damaging Het
Pde4b A G 4: 102,344,599 (GRCm39) E102G probably damaging Het
Pdlim4 G T 11: 53,947,130 (GRCm39) S56R probably benign Het
Poc5 T C 13: 96,538,139 (GRCm39) V268A probably benign Het
Sec23b A C 2: 144,401,157 (GRCm39) E6A probably damaging Het
Sgsm1 A T 5: 113,424,048 (GRCm39) probably benign Het
Slc16a12 T A 19: 34,650,084 (GRCm39) N317I possibly damaging Het
Slc1a7 A T 4: 107,850,162 (GRCm39) D91V probably damaging Het
Slc30a9 T G 5: 67,473,173 (GRCm39) S86A probably benign Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tacr1 T C 6: 82,380,636 (GRCm39) S16P probably benign Het
Tmtc1 A C 6: 148,147,285 (GRCm39) V804G possibly damaging Het
Ttc7b A G 12: 100,321,371 (GRCm39) F587L probably benign Het
Vmn2r86 A T 10: 130,288,855 (GRCm39) D215E probably damaging Het
Other mutations in Hspbap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Hspbap1 APN 16 35,634,431 (GRCm39) splice site probably benign
IGL03070:Hspbap1 APN 16 35,639,096 (GRCm39) missense probably damaging 0.96
R1099:Hspbap1 UTSW 16 35,645,314 (GRCm39) missense probably damaging 0.99
R1346:Hspbap1 UTSW 16 35,622,035 (GRCm39) missense probably damaging 1.00
R1532:Hspbap1 UTSW 16 35,645,673 (GRCm39) missense probably damaging 1.00
R1848:Hspbap1 UTSW 16 35,639,134 (GRCm39) critical splice donor site probably null
R1867:Hspbap1 UTSW 16 35,621,934 (GRCm39) missense possibly damaging 0.77
R4512:Hspbap1 UTSW 16 35,607,611 (GRCm39) missense probably damaging 0.98
R4718:Hspbap1 UTSW 16 35,607,692 (GRCm39) missense probably benign 0.07
R5553:Hspbap1 UTSW 16 35,621,967 (GRCm39) missense probably damaging 1.00
R5590:Hspbap1 UTSW 16 35,622,033 (GRCm39) missense probably damaging 1.00
R6151:Hspbap1 UTSW 16 35,637,592 (GRCm39) missense probably damaging 1.00
R6612:Hspbap1 UTSW 16 35,621,961 (GRCm39) missense probably damaging 1.00
R7253:Hspbap1 UTSW 16 35,637,600 (GRCm39) missense unknown
R7314:Hspbap1 UTSW 16 35,645,541 (GRCm39) missense probably benign 0.00
R8256:Hspbap1 UTSW 16 35,590,879 (GRCm39) missense probably benign 0.01
R8304:Hspbap1 UTSW 16 35,607,695 (GRCm39) nonsense probably null
R8359:Hspbap1 UTSW 16 35,645,366 (GRCm39) missense probably benign 0.02
R9337:Hspbap1 UTSW 16 35,645,395 (GRCm39) missense probably benign 0.00
Posted On 2013-11-05