Incidental Mutation 'IGL03181:Hspbp1'
ID412236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspbp1
Ensembl Gene ENSMUSG00000063802
Gene NameHSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL03181
Quality Score
Status
Chromosome7
Chromosomal Location4660521-4685068 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 4684364 bp
ZygosityHeterozygous
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]
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: 71,193,373 V1319A possibly damaging Het
Abcb11 T A 2: 69,328,008 probably benign Het
Acss3 G T 10: 107,053,388 H190Q probably damaging Het
Adra2b C T 2: 127,363,983 T140I probably benign Het
Arl1 T A 10: 88,743,059 probably benign Het
Atp4a T G 7: 30,724,704 C968G probably benign Het
BC003331 G T 1: 150,363,539 P378T probably benign Het
Clec4n T C 6: 123,230,515 C13R possibly damaging Het
Cnot3 T C 7: 3,653,248 Y178H probably damaging Het
Col18a1 G A 10: 77,055,698 R1560C probably damaging Het
Cyp2c66 T C 19: 39,142,039 F106S probably benign Het
Dcn A C 10: 97,483,452 E30D probably damaging Het
Dennd5a A T 7: 109,933,658 F302I probably damaging Het
Dip2b T C 15: 100,215,207 V1501A probably damaging Het
Dnah10 C T 5: 124,748,457 P687S probably damaging Het
Drc7 A G 8: 95,068,127 T387A probably benign Het
Dusp7 T A 9: 106,373,810 M378K probably damaging Het
Ftmt T C 18: 52,331,881 Y90H probably damaging Het
Glb1l3 T C 9: 26,828,363 probably null Het
Gm884 A T 11: 103,616,416 probably benign Het
Gpatch3 T C 4: 133,578,122 F223L probably damaging Het
Gpr158 T A 2: 21,783,161 F538I probably benign Het
Gucy2e A G 11: 69,230,182 probably benign Het
Hadha A G 5: 30,121,526 V566A probably benign Het
Hectd4 A T 5: 121,353,958 S3787C possibly damaging Het
Hnrnpk A T 13: 58,394,316 D265E possibly damaging Het
Hspg2 T A 4: 137,515,937 L758Q probably damaging Het
Ippk A G 13: 49,441,987 Y180C probably damaging Het
Itpr3 T A 17: 27,111,268 M1620K probably benign Het
Klf7 T C 1: 64,035,726 K298R possibly damaging Het
Ktn1 A T 14: 47,733,284 T1229S probably benign Het
Lefty2 A G 1: 180,897,550 N282D probably damaging Het
Nsd1 G A 13: 55,247,045 E820K probably damaging Het
Obsl1 C A 1: 75,492,584 A1238S probably benign Het
Pias2 T C 18: 77,133,242 I391T possibly damaging Het
Ppp1r10 G T 17: 35,930,624 G764* probably null Het
Ptpra T C 2: 130,517,787 F158L probably damaging Het
Recql T C 6: 142,378,192 S59G probably benign Het
Rrp1b A T 17: 32,057,176 I566F probably benign Het
Sh3yl1 G A 12: 30,941,980 D145N possibly damaging Het
Slc35f5 T A 1: 125,585,185 I52N probably damaging Het
Slc51b A G 9: 65,415,165 probably null Het
Smpd4 C T 16: 17,625,807 Q72* probably null Het
Spata6 A G 4: 111,822,766 D391G probably benign Het
Tnc T A 4: 63,967,306 D1853V possibly damaging Het
Tnks1bp1 C T 2: 85,062,714 T333I probably benign Het
Vmn2r100 T A 17: 19,531,945 I813N probably damaging Het
Vwa8 T A 14: 79,009,250 H677Q probably benign Het
Washc4 T C 10: 83,591,019 Y1064H probably damaging Het
Wdr82 T A 9: 106,186,415 I272K probably benign Het
Zc3h12a T C 4: 125,119,304 Y589C probably damaging Het
Other mutations in Hspbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Hspbp1 APN 7 4664751 missense probably damaging 0.97
IGL02072:Hspbp1 APN 7 4677721 missense probably damaging 1.00
IGL02548:Hspbp1 APN 7 4681841 splice site probably benign
IGL02573:Hspbp1 APN 7 4677853 missense probably damaging 1.00
IGL03177:Hspbp1 APN 7 4664701 critical splice donor site probably null
R0568:Hspbp1 UTSW 7 4684432 nonsense probably null
R0670:Hspbp1 UTSW 7 4677736 missense probably damaging 1.00
R3013:Hspbp1 UTSW 7 4663484 missense probably benign 0.18
R3729:Hspbp1 UTSW 7 4677809 missense probably damaging 1.00
R3934:Hspbp1 UTSW 7 4664595 missense probably benign 0.41
R6031:Hspbp1 UTSW 7 4663466 missense probably benign 0.28
R6031:Hspbp1 UTSW 7 4663466 missense probably benign 0.28
R6034:Hspbp1 UTSW 7 4677712 missense probably damaging 1.00
R6034:Hspbp1 UTSW 7 4677712 missense probably damaging 1.00
R6728:Hspbp1 UTSW 7 4660782 missense possibly damaging 0.93
R6797:Hspbp1 UTSW 7 4660782 missense possibly damaging 0.93
R6930:Hspbp1 UTSW 7 4684607 missense probably benign
R6992:Hspbp1 UTSW 7 4664715 missense probably benign 0.23
R7459:Hspbp1 UTSW 7 4684578 missense probably benign 0.00
R7525:Hspbp1 UTSW 7 4663436 missense probably damaging 1.00
R7608:Hspbp1 UTSW 7 4660822 missense possibly damaging 0.73
R7962:Hspbp1 UTSW 7 4681842 critical splice donor site probably null
Posted On2016-08-02