Incidental Mutation 'IGL03181:Hspbp1'
ID 412236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspbp1
Ensembl Gene ENSMUSG00000063802
Gene Name HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1
Synonyms 1500019G21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL03181
Quality Score
Status
Chromosome 7
Chromosomal Location 4663520-4688067 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4687363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 83 (R83W)
Ref Sequence ENSEMBL: ENSMUSP00000146248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079970] [ENSMUST00000205952] [ENSMUST00000206306] [ENSMUST00000206946]
AlphaFold Q99P31
Predicted Effect possibly damaging
Transcript: ENSMUST00000079970
AA Change: R38W

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078886
Gene: ENSMUSG00000063802
AA Change: R38W

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 possibly damaging
Transcript: ENSMUST00000205952
AA Change: R38W

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206306
AA Change: R38W

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000206946
AA Change: R83W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C 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
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
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
Posted On 2016-08-02