Incidental Mutation 'R4512:Hspbap1'
ID 331290
Institutional Source Beutler Lab
Gene Symbol Hspbap1
Ensembl Gene ENSMUSG00000022849
Gene Name Hspb associated protein 1
Synonyms 3830421G21Rik
MMRRC Submission 041587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4512 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 35590745-35648847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35607611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 39 (S39F)
Ref Sequence ENSEMBL: ENSMUSP00000156217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023555] [ENSMUST00000231579]
AlphaFold Q8BK58
Predicted Effect probably damaging
Transcript: ENSMUST00000023555
AA Change: S39F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023555
Gene: ENSMUSG00000022849
AA Change: S39F

DomainStartEndE-ValueType
JmjC 126 288 1.29e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000231579
AA Change: S39F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231802
Meta Mutation Damage Score 0.1137 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 99% (67/68)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,978,573 (GRCm39) D573V probably damaging Het
Adgrg5 T C 8: 95,660,652 (GRCm39) V93A possibly damaging Het
Akr1c20 A C 13: 4,557,843 (GRCm39) V201G probably damaging Het
Alpk1 T C 3: 127,478,120 (GRCm39) probably benign Het
Aopep A T 13: 63,304,481 (GRCm39) T497S probably damaging Het
Atp6v1h T C 1: 5,168,358 (GRCm39) probably null Het
Aup1 C T 6: 83,033,368 (GRCm39) R248* probably null Het
BC016579 C A 16: 45,453,363 (GRCm39) A151S possibly damaging Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Chsy3 A G 18: 59,543,259 (GRCm39) D799G probably damaging Het
Dnah6 G A 6: 73,155,399 (GRCm39) R739W probably damaging Het
Dync2h1 A T 9: 7,085,009 (GRCm39) C553* probably null Het
Fhl4 A G 10: 84,934,578 (GRCm39) S68P possibly damaging Het
Gcc1 T C 6: 28,419,208 (GRCm39) E375G probably benign Het
Gm10110 A G 14: 90,135,151 (GRCm39) noncoding transcript Het
Lmln G A 16: 32,908,507 (GRCm39) R311Q probably benign Het
Ly6e T A 15: 74,829,682 (GRCm39) V24D probably damaging Het
Magi3 T C 3: 103,996,871 (GRCm39) T225A probably damaging Het
Mark1 C A 1: 184,639,286 (GRCm39) R577L probably benign Het
Mlxip G T 5: 123,533,128 (GRCm39) V46L probably benign Het
Mrpl40 T C 16: 18,691,308 (GRCm39) D134G probably benign Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nalcn T C 14: 123,532,860 (GRCm39) Y1300C probably damaging Het
Nav3 T C 10: 109,529,943 (GRCm39) I2133V possibly damaging Het
Ndst3 T C 3: 123,465,315 (GRCm39) D219G probably damaging Het
Nfkbie C T 17: 45,867,165 (GRCm39) S100L probably benign Het
Oard1 A G 17: 48,723,788 (GRCm39) I145V probably benign Het
Odf2 C T 2: 29,816,109 (GRCm39) probably null Het
Oplah A G 15: 76,182,155 (GRCm39) L1035P probably damaging Het
Or4n4b C A 14: 50,536,453 (GRCm39) L104F probably damaging Het
Or51t4 T C 7: 102,597,945 (GRCm39) L81P probably damaging Het
Or5m3b T C 2: 85,871,913 (GRCm39) S85P probably damaging Het
Otud7a T C 7: 63,379,625 (GRCm39) F284L probably benign Het
Parg T C 14: 31,984,693 (GRCm39) V241A probably damaging Het
Pla2g4a T A 1: 149,736,802 (GRCm39) probably null Het
Psd4 C T 2: 24,292,901 (GRCm39) R684C probably damaging Het
Pttg1ip T C 10: 77,432,902 (GRCm39) probably benign Het
R3hcc1 A G 14: 69,936,060 (GRCm39) S250P probably damaging Het
Rere T A 4: 150,561,909 (GRCm39) Y272N unknown Het
Selplg A G 5: 113,957,124 (GRCm39) V394A probably benign Het
Senp7 T G 16: 55,986,246 (GRCm39) F559V probably damaging Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Smim3 A T 18: 60,608,556 (GRCm39) V32D probably damaging Het
Spsb3 A G 17: 25,109,270 (GRCm39) D47G probably damaging Het
St6gal2 A T 17: 55,790,018 (GRCm39) N351Y probably benign Het
Stk11 T C 10: 79,962,211 (GRCm39) probably benign Het
Susd1 A T 4: 59,329,491 (GRCm39) L646Q possibly damaging Het
Tmprss11a A G 5: 86,576,437 (GRCm39) V138A probably benign Het
Ttn C A 2: 76,728,969 (GRCm39) probably benign Het
Ttn T C 2: 76,580,814 (GRCm39) K15033E probably damaging Het
Tyrp1 G T 4: 80,755,749 (GRCm39) D173Y probably damaging Het
Uncx A G 5: 139,532,522 (GRCm39) I196V possibly damaging Het
Vamp4 A T 1: 162,405,457 (GRCm39) D28V possibly damaging Het
Vmn2r78 C T 7: 86,569,452 (GRCm39) S115F probably benign Het
Zeb1 G A 18: 5,759,007 (GRCm39) C138Y probably damaging Het
Zfp985 G A 4: 147,668,020 (GRCm39) C296Y 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
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
Predicted Primers PCR Primer
(F):5'- GAATTCAGGCCTTTGAAGCC -3'
(R):5'- CATAAAGGACTGCCTCAAGATGG -3'

Sequencing Primer
(F):5'- CAGGCCTTTGAAGCCAAATATTTATC -3'
(R):5'- CCTCAAGATGGGGTGAGCACTG -3'
Posted On 2015-07-21