Incidental Mutation 'R8304:Hspbap1'
ID 639414
Institutional Source Beutler Lab
Gene Symbol Hspbap1
Ensembl Gene ENSMUSG00000022849
Gene Name Hspb associated protein 1
Synonyms 3830421G21Rik
MMRRC Submission 067791-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8304 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 35590745-35648847 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 35607695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 67 (L67*)
Ref Sequence ENSEMBL: ENSMUSP00000023555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023555]
AlphaFold Q8BK58
Predicted Effect probably null
Transcript: ENSMUST00000023555
AA Change: L67*
SMART Domains Protein: ENSMUSP00000023555
Gene: ENSMUSG00000022849
AA Change: L67*

DomainStartEndE-ValueType
JmjC 126 288 1.29e-28 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (58/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,997,954 (GRCm39) probably null Het
Akap11 T C 14: 78,750,672 (GRCm39) T572A Het
Amigo2 A T 15: 97,144,038 (GRCm39) L128Q probably damaging Het
Ankrd12 A G 17: 66,291,542 (GRCm39) I1297T possibly damaging Het
Arhgap32 T A 9: 32,167,233 (GRCm39) C623* probably null Het
Armc2 T C 10: 41,823,935 (GRCm39) Y511C probably damaging Het
Asb15 C T 6: 24,559,296 (GRCm39) P147L possibly damaging Het
Caprin1 G T 2: 103,599,862 (GRCm39) N604K probably damaging Het
Ccnl2 T C 4: 155,897,679 (GRCm39) F113L probably benign Het
Cltc C T 11: 86,616,087 (GRCm39) R393H probably benign Het
Cul4a G A 8: 13,177,727 (GRCm39) C289Y possibly damaging Het
Cyp4a29 T A 4: 115,111,653 (GRCm39) F477I probably damaging Het
Dapk2 C T 9: 66,139,027 (GRCm39) A116V possibly damaging Het
Ddx60 T C 8: 62,451,803 (GRCm39) I1231T possibly damaging Het
Eif5b A G 1: 38,084,774 (GRCm39) I874V probably benign Het
Eral1 A T 11: 77,966,828 (GRCm39) S196T probably damaging Het
Erc2 T G 14: 27,375,122 (GRCm39) D113E probably damaging Het
Frmpd2 A G 14: 33,274,066 (GRCm39) I1103V possibly damaging Het
Galm A G 17: 80,490,766 (GRCm39) T308A probably damaging Het
Helz2 A T 2: 180,871,950 (GRCm39) N2650K probably benign Het
Herc2 A G 7: 55,809,186 (GRCm39) D2562G probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Irx3 T A 8: 92,526,834 (GRCm39) D290V probably damaging Het
Kcns1 A T 2: 164,010,022 (GRCm39) Y246N probably damaging Het
Kidins220 A G 12: 25,107,127 (GRCm39) T1557A probably benign Het
Lrriq1 T C 10: 103,069,929 (GRCm39) N29S possibly damaging Het
Mmp24 T C 2: 155,641,759 (GRCm39) F196L possibly damaging Het
Mroh2b T C 15: 4,955,119 (GRCm39) V704A probably damaging Het
Mst1 A G 9: 107,958,803 (GRCm39) M112V probably benign Het
Myh8 C A 11: 67,195,162 (GRCm39) H1659N possibly damaging Het
Nlgn1 C T 3: 26,187,534 (GRCm39) C117Y probably damaging Het
Opa1 C T 16: 29,416,489 (GRCm39) T237M possibly damaging Het
Or2r2 C T 6: 42,463,672 (GRCm39) V152I probably benign Het
Or51f5 A G 7: 102,423,917 (GRCm39) Y62C possibly damaging Het
Or5v1 A T 17: 37,810,261 (GRCm39) T240S probably damaging Het
Or8b57 A T 9: 40,003,650 (GRCm39) I204N probably damaging Het
P3h1 C T 4: 119,104,402 (GRCm39) T641M probably damaging Het
Pak5 T C 2: 135,940,203 (GRCm39) H537R probably benign Het
Ppp1r12b A T 1: 134,824,101 (GRCm39) L174Q possibly damaging Het
Prkg1 A G 19: 30,701,584 (GRCm39) V326A possibly damaging Het
Psmb3 T A 11: 97,601,995 (GRCm39) C122S probably benign Het
Sh3bgrl3 C A 4: 133,855,312 (GRCm39) A45S probably benign Het
Slc25a47 T C 12: 108,821,868 (GRCm39) V219A possibly damaging Het
Slfn9 A C 11: 82,873,605 (GRCm39) S433A probably benign Het
Spata13 A T 14: 60,993,957 (GRCm39) R1136S possibly damaging Het
Stab1 C A 14: 30,870,911 (GRCm39) A1313S probably benign Het
Stim1 G A 7: 102,084,688 (GRCm39) A547T possibly damaging Het
Taf5l A T 8: 124,730,251 (GRCm39) I146N probably benign Het
Tbc1d12 A T 19: 38,825,824 (GRCm39) E225V possibly damaging Het
Tesc T C 5: 118,194,495 (GRCm39) Y135H probably benign Het
Tfg T C 16: 56,521,581 (GRCm39) E145G possibly damaging Het
Tg T A 15: 66,565,109 (GRCm39) C1150* probably null Het
Tmtc1 T C 6: 148,172,883 (GRCm39) N616S probably damaging Het
Trpm7 A T 2: 126,639,797 (GRCm39) W1600R probably damaging Het
Ttc17 A T 2: 94,199,526 (GRCm39) probably benign Het
Zfand1 A T 3: 10,413,615 (GRCm39) L24* probably null Het
Zfp282 AGCGGCGGCGGCGGCGGC AGCGGCGGCGGCGGC 6: 47,881,722 (GRCm39) probably benign Het
Zfp770 A C 2: 114,027,891 (GRCm39) F59L probably damaging Het
Other mutations in Hspbap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Hspbap1 APN 16 35,634,431 (GRCm39) splice site probably benign
IGL01377:Hspbap1 APN 16 35,645,681 (GRCm39) missense possibly damaging 0.48
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
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
Predicted Primers PCR Primer
(F):5'- AGCATCAGCCATTCTCTCGG -3'
(R):5'- ATGAGGTCAAACTATTTCCCCACAC -3'

Sequencing Primer
(F):5'- CGGCATTCTATAGGACATAATGACAC -3'
(R):5'- AAACTATTTCCCCACACTTTCTTG -3'
Posted On 2020-07-28