Incidental Mutation 'R5553:Hspbap1'
ID 435237
Institutional Source Beutler Lab
Gene Symbol Hspbap1
Ensembl Gene ENSMUSG00000022849
Gene Name Hspb associated protein 1
Synonyms 3830421G21Rik
MMRRC Submission 043110-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5553 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 35590745-35648847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 35621967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 104 (W104L)
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: W104L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023555
Gene: ENSMUSG00000022849
AA Change: W104L

DomainStartEndE-ValueType
JmjC 126 288 1.29e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180485
Predicted Effect probably damaging
Transcript: ENSMUST00000231579
AA Change: W104L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231802
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,792,690 (GRCm39) I86F probably damaging Het
Abca13 C T 11: 9,278,158 (GRCm39) L3113F probably damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Ano8 T A 8: 71,937,641 (GRCm39) probably null Het
Arid1b A T 17: 5,364,152 (GRCm39) S1041C probably damaging Het
Bsn T A 9: 107,987,620 (GRCm39) probably benign Het
Cbr3 A G 16: 93,480,451 (GRCm39) E80G possibly damaging Het
Chd1 A G 17: 17,605,875 (GRCm39) E271G probably benign Het
Dock3 T A 9: 106,868,309 (GRCm39) K658N possibly damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dppa1 T A 11: 46,503,861 (GRCm39) probably null Het
Fen1 T C 19: 10,177,787 (GRCm39) N219S probably benign Het
Fsip2 A G 2: 82,793,090 (GRCm39) T416A probably benign Het
Gm14393 A T 2: 174,903,639 (GRCm39) C89* probably null Het
Grin2c C T 11: 115,143,551 (GRCm39) M736I probably null Het
Heatr5b A T 17: 79,060,780 (GRCm39) probably null Het
Igfn1 C T 1: 135,895,622 (GRCm39) G1648E probably damaging Het
Irf4 A G 13: 30,935,811 (GRCm39) Y122C probably damaging Het
Kremen2 A G 17: 23,960,776 (GRCm39) probably benign Het
Niban1 C T 1: 151,592,986 (GRCm39) T557M probably damaging Het
Nubpl T A 12: 52,228,082 (GRCm39) L169M possibly damaging Het
Nwd1 T C 8: 73,431,604 (GRCm39) S1200P possibly damaging Het
Or1j20 A G 2: 36,760,477 (GRCm39) I300V probably benign Het
Or5p61 A T 7: 107,758,478 (GRCm39) S201T probably benign Het
Parp14 G T 16: 35,677,306 (GRCm39) H887Q probably benign Het
Paxip1 G A 5: 27,980,637 (GRCm39) probably benign Het
Piwil1 T C 5: 128,822,565 (GRCm39) M392T probably benign Het
Plekhm3 T C 1: 64,961,045 (GRCm39) S404G possibly damaging Het
Prelid3a T C 18: 67,610,093 (GRCm39) L141P probably damaging Het
Ptprb T A 10: 116,186,090 (GRCm39) V1715E probably damaging Het
Rc3h2 G A 2: 37,288,323 (GRCm39) R420* probably null Het
Selenon C A 4: 134,268,228 (GRCm39) R435L probably damaging Het
Slc29a4 T C 5: 142,705,791 (GRCm39) L425P probably damaging Het
Slc30a9 T A 5: 67,502,947 (GRCm39) probably null Het
Slc9a5 T C 8: 106,083,672 (GRCm39) V404A probably damaging Het
Ssc5d A T 7: 4,939,289 (GRCm39) D575V probably damaging Het
Ttn A C 2: 76,721,940 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,725,110 (GRCm39) Q13R possibly damaging Het
Wfikkn1 T A 17: 26,097,468 (GRCm39) L285F possibly damaging Het
Zcchc17 A G 4: 130,247,927 (GRCm39) probably null 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
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'- GTCCTTAACCTTAAGAACACATCCG -3'
(R):5'- AACCTGTCAGGGCTCACATG -3'

Sequencing Primer
(F):5'- ACACATCCGTTCTTTTGGTTTTATTG -3'
(R):5'- GTCAGGGCTCACATGAGTACTTAC -3'
Posted On 2016-10-24