Incidental Mutation 'R0568:Hspbp1'
ID 46261
Institutional Source Beutler Lab
Gene Symbol Hspbp1
Ensembl Gene ENSMUSG00000063802
Gene Name HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1
Synonyms 1500019G21Rik
MMRRC Submission 038759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R0568 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4663520-4688067 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 4687431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 60 (L60*)
Ref Sequence ENSEMBL: ENSMUSP00000146248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079970] [ENSMUST00000205952] [ENSMUST00000206306] [ENSMUST00000206946]
AlphaFold Q99P31
Predicted Effect probably null
Transcript: ENSMUST00000079970
AA Change: L15*
SMART Domains Protein: ENSMUSP00000078886
Gene: ENSMUSG00000063802
AA Change: L15*

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
Pfam:Fes1 43 138 2.5e-12 PFAM
SCOP:d1ee4a_ 150 302 2e-12 SMART
Blast:ARM 216 256 3e-11 BLAST
Blast:ARM 259 299 4e-13 BLAST
low complexity region 306 342 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000205952
AA Change: L15*
Predicted Effect probably null
Transcript: ENSMUST00000206306
AA Change: L15*
Predicted Effect probably null
Transcript: ENSMUST00000206946
AA Change: L60*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation show male infertility with an arrest of male meiosis, increased male germ cell apoptosis and azoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 G A 4: 49,451,003 (GRCm39) T36I possibly damaging Het
Adamts20 T C 15: 94,189,594 (GRCm39) probably benign Het
Adamtsl1 T C 4: 86,336,789 (GRCm39) L1558S probably damaging Het
Ap3b2 A G 7: 81,114,377 (GRCm39) probably null Het
Bag2 T C 1: 33,786,059 (GRCm39) M88V probably benign Het
Brms1l A G 12: 55,908,173 (GRCm39) probably null Het
C8b A G 4: 104,650,577 (GRCm39) I462V probably benign Het
Cfap410 C T 10: 77,818,872 (GRCm39) T181I possibly damaging Het
Cfap410 A T 10: 77,820,381 (GRCm39) *250C probably null Het
Cnpy4 A G 5: 138,190,839 (GRCm39) E167G probably damaging Het
Copa T C 1: 171,939,704 (GRCm39) V624A possibly damaging Het
Gm4553 G T 7: 141,719,357 (GRCm39) P24T unknown Het
Gna12 A G 5: 140,746,638 (GRCm39) V269A possibly damaging Het
Gtf2ird2 G T 5: 134,240,083 (GRCm39) E302* probably null Het
Hmcn2 C A 2: 31,305,248 (GRCm39) S3140R probably benign Het
Hspa4 A G 11: 53,153,703 (GRCm39) probably benign Het
Lats1 A T 10: 7,588,292 (GRCm39) I970F possibly damaging Het
Lipo3 T C 19: 33,559,442 (GRCm39) probably benign Het
Lrrc3 T A 10: 77,737,419 (GRCm39) R6W probably damaging Het
Lxn C T 3: 67,368,335 (GRCm39) A143T probably damaging Het
Mga T C 2: 119,765,903 (GRCm39) I1390T probably damaging Het
Ncapg2 T A 12: 116,386,835 (GRCm39) I286N probably damaging Het
Or4c107 T A 2: 88,789,387 (GRCm39) Y192* probably null Het
Pitpnm2 A G 5: 124,278,580 (GRCm39) probably benign Het
Plxna2 T C 1: 194,433,694 (GRCm39) V581A probably benign Het
Polr3d A T 14: 70,676,959 (GRCm39) H378Q possibly damaging Het
Ptpn13 T C 5: 103,637,631 (GRCm39) V173A probably damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Smc4 T C 3: 68,929,794 (GRCm39) probably null Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syngr3 C T 17: 24,905,555 (GRCm39) A140T probably benign Het
Tent2 A G 13: 93,291,500 (GRCm39) S381P probably benign Het
Tprn T C 2: 25,154,333 (GRCm39) V545A probably damaging Het
Trim66 T C 7: 109,059,902 (GRCm39) H828R probably benign Het
Ugt2b5 G A 5: 87,285,224 (GRCm39) probably benign Het
Vps9d1 A G 8: 123,973,487 (GRCm39) V432A probably damaging Het
Zswim9 A T 7: 12,994,952 (GRCm39) D401E probably damaging Het
Other mutations in Hspbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Hspbp1 APN 7 4,667,750 (GRCm39) missense probably damaging 0.97
IGL02072:Hspbp1 APN 7 4,680,720 (GRCm39) missense probably damaging 1.00
IGL02548:Hspbp1 APN 7 4,684,840 (GRCm39) splice site probably benign
IGL02573:Hspbp1 APN 7 4,680,852 (GRCm39) missense probably damaging 1.00
IGL03177:Hspbp1 APN 7 4,667,700 (GRCm39) critical splice donor site probably null
IGL03181:Hspbp1 APN 7 4,687,363 (GRCm39) missense probably damaging 1.00
R0670:Hspbp1 UTSW 7 4,680,735 (GRCm39) missense probably damaging 1.00
R3013:Hspbp1 UTSW 7 4,666,483 (GRCm39) missense probably benign 0.18
R3729:Hspbp1 UTSW 7 4,680,808 (GRCm39) missense probably damaging 1.00
R3934:Hspbp1 UTSW 7 4,667,594 (GRCm39) missense probably benign 0.41
R6031:Hspbp1 UTSW 7 4,666,465 (GRCm39) missense probably benign 0.28
R6031:Hspbp1 UTSW 7 4,666,465 (GRCm39) missense probably benign 0.28
R6034:Hspbp1 UTSW 7 4,680,711 (GRCm39) missense probably damaging 1.00
R6034:Hspbp1 UTSW 7 4,680,711 (GRCm39) missense probably damaging 1.00
R6728:Hspbp1 UTSW 7 4,663,781 (GRCm39) missense possibly damaging 0.93
R6797:Hspbp1 UTSW 7 4,663,781 (GRCm39) missense possibly damaging 0.93
R6930:Hspbp1 UTSW 7 4,687,606 (GRCm39) missense probably benign
R6992:Hspbp1 UTSW 7 4,667,714 (GRCm39) missense probably benign 0.23
R7459:Hspbp1 UTSW 7 4,687,577 (GRCm39) missense probably benign 0.00
R7525:Hspbp1 UTSW 7 4,666,435 (GRCm39) missense probably damaging 1.00
R7608:Hspbp1 UTSW 7 4,663,821 (GRCm39) missense possibly damaging 0.73
R7962:Hspbp1 UTSW 7 4,684,841 (GRCm39) critical splice donor site probably null
R8812:Hspbp1 UTSW 7 4,667,783 (GRCm39) missense probably benign 0.01
R8971:Hspbp1 UTSW 7 4,684,858 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- ACAACAGCTTGTAGCTCACTAAGCC -3'
(R):5'- TTGTTGCTAAGGAGACTGAGCGAAG -3'

Sequencing Primer
(F):5'- GTAGCTCACTAAGCCACTCTC -3'
(R):5'- TTTGGGATCATGAGAAGACTCC -3'
Posted On 2013-06-11