Incidental Mutation 'R6034:Hspbp1'
ID 486439
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 044206-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6034 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 4663520-4688067 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4680711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 255 (I255N)
Ref Sequence ENSEMBL: ENSMUSP00000146248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079970] [ENSMUST00000205952] [ENSMUST00000206306] [ENSMUST00000206946]
AlphaFold Q99P31
Predicted Effect probably damaging
Transcript: ENSMUST00000079970
AA Change: I210N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078886
Gene: ENSMUSG00000063802
AA Change: I210N

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 damaging
Transcript: ENSMUST00000205952
AA Change: I210N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206306
AA Change: I210N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206946
AA Change: I255N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5483 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (55/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 G T 1: 34,760,984 (GRCm39) G80V unknown Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Atad2 A T 15: 57,971,959 (GRCm39) L306Q probably damaging Het
Atp2b4 T A 1: 133,659,645 (GRCm39) probably null Het
Atp6v1c2 C A 12: 17,357,501 (GRCm39) G95V possibly damaging Het
Birc6 T A 17: 74,922,278 (GRCm39) V2192E probably damaging Het
Catsperb A G 12: 101,542,091 (GRCm39) E597G probably benign Het
Ccdc40 A G 11: 119,133,898 (GRCm39) M556V possibly damaging Het
Ccin G A 4: 43,985,354 (GRCm39) R587K probably benign Het
Cdipt T G 7: 126,577,497 (GRCm39) V81G probably damaging Het
Cert1 A C 13: 96,746,308 (GRCm39) I236L probably benign Het
Cfh T C 1: 140,090,869 (GRCm39) K40E probably damaging Het
Cps1 T A 1: 67,196,872 (GRCm39) probably null Het
Dnah7c A T 1: 46,496,418 (GRCm39) D101V probably benign Het
Fastkd3 T A 13: 68,731,729 (GRCm39) W17R probably damaging Het
Gapdh T C 6: 125,142,261 (GRCm39) D25G probably benign Het
H1f4 A G 13: 23,806,296 (GRCm39) L62P probably damaging Het
H2-Ob T C 17: 34,460,192 (GRCm39) V30A probably damaging Het
Hmgxb3 T A 18: 61,265,594 (GRCm39) H1128L probably damaging Het
Imp4 A G 1: 34,482,537 (GRCm39) D91G probably damaging Het
Itprid1 T A 6: 55,944,666 (GRCm39) D462E possibly damaging Het
Kcnip4 G T 5: 48,548,283 (GRCm39) R241S possibly damaging Het
Lilra5 T C 7: 4,245,133 (GRCm39) L259P probably benign Het
Lipf T C 19: 33,942,289 (GRCm39) I73T probably benign Het
Lsm7 T C 10: 80,688,742 (GRCm39) probably null Het
Luzp2 T A 7: 54,816,972 (GRCm39) L141M probably damaging Het
Malrd1 T A 2: 15,850,137 (GRCm39) V1252E possibly damaging Het
Map10 T C 8: 126,399,205 (GRCm39) L866P probably damaging Het
Mink1 AAGCAGCAGCAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAGCAG 11: 70,497,866 (GRCm39) probably benign Het
Mpp2 T C 11: 101,952,460 (GRCm39) I355V possibly damaging Het
Mtrf1l T A 10: 5,773,834 (GRCm39) probably benign Het
Myo5c A T 9: 75,163,187 (GRCm39) T339S probably benign Het
Naa15 A G 3: 51,350,242 (GRCm39) D163G probably damaging Het
Oosp2 A G 19: 11,628,879 (GRCm39) F74S probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4f7 T A 2: 111,644,702 (GRCm39) Y123F probably damaging Het
Pard3 C G 8: 127,791,077 (GRCm39) probably benign Het
Pcdha1 T A 18: 37,063,651 (GRCm39) I105N probably damaging Het
Pcdhgb8 A G 18: 37,895,601 (GRCm39) T224A possibly damaging Het
Phf12 A G 11: 77,908,895 (GRCm39) N325S probably benign Het
Prom1 T A 5: 44,201,750 (GRCm39) probably null Het
Raet1e A G 10: 22,057,990 (GRCm39) *252W probably null Het
Sap130 T C 18: 31,822,459 (GRCm39) V655A possibly damaging Het
Sec16b A T 1: 157,380,509 (GRCm39) K360I probably damaging Het
Sec23ip C T 7: 128,351,927 (GRCm39) T101I possibly damaging Het
Selenoo A G 15: 88,983,546 (GRCm39) K529R probably benign Het
Slc22a15 A G 3: 101,770,235 (GRCm39) F451L possibly damaging Het
St6gal2 T A 17: 55,789,982 (GRCm39) S339T probably benign Het
Stard13 A T 5: 151,018,965 (GRCm39) probably null Het
Synm A G 7: 67,384,653 (GRCm39) V561A probably damaging Het
Tc2n A T 12: 101,617,460 (GRCm39) probably null Het
Ugt2b36 T A 5: 87,229,377 (GRCm39) D236V probably damaging Het
Vmn1r65 A G 7: 6,011,868 (GRCm39) L122P probably damaging Het
Zc3h14 T C 12: 98,737,632 (GRCm39) S40P probably benign Het
Zc3hav1l C A 6: 38,272,215 (GRCm39) G185C probably damaging Het
Zfp563 G A 17: 33,323,935 (GRCm39) A177T 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
R0568:Hspbp1 UTSW 7 4,687,431 (GRCm39) nonsense probably null
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
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'- TCTGGCTCTGACGTCACTAC -3'
(R):5'- ATAGATTTCTGCCAGCTGTCAG -3'

Sequencing Primer
(F):5'- GGCTCTGACGTCACTACTCTGG -3'
(R):5'- AGCTGTCAGGCATGCATCTG -3'
Posted On 2017-08-16