Incidental Mutation 'IGL01529:Hsph1'
ID 89695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsph1
Ensembl Gene ENSMUSG00000029657
Gene Name heat shock 105kDa/110kDa protein 1
Synonyms HSP110, hsp110/105, hsp-E7I, Hsp105
Accession Numbers
Essential gene? Possibly essential (E-score: 0.618) question?
Stock # IGL01529
Quality Score
Status
Chromosome 5
Chromosomal Location 149537752-149559841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149559499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 15 (I15V)
Ref Sequence ENSEMBL: ENSMUSP00000144413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074846] [ENSMUST00000200805] [ENSMUST00000200825] [ENSMUST00000201452] [ENSMUST00000201559] [ENSMUST00000202089] [ENSMUST00000202361]
AlphaFold Q61699
Predicted Effect probably benign
Transcript: ENSMUST00000074846
AA Change: I15V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: I15V

DomainStartEndE-ValueType
Pfam:HSP70 3 709 7.3e-190 PFAM
low complexity region 756 768 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200805
SMART Domains Protein: ENSMUSP00000143925
Gene: ENSMUSG00000029657

DomainStartEndE-ValueType
Pfam:HSP70 1 94 5.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200825
AA Change: I15V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000143913
Gene: ENSMUSG00000029657
AA Change: I15V

DomainStartEndE-ValueType
Pfam:HSP70 3 100 1.4e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201431
Predicted Effect probably benign
Transcript: ENSMUST00000201452
AA Change: I15V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: I15V

DomainStartEndE-ValueType
Pfam:HSP70 3 709 7.3e-190 PFAM
low complexity region 756 768 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201559
SMART Domains Protein: ENSMUSP00000144043
Gene: ENSMUSG00000029657

DomainStartEndE-ValueType
Pfam:HSP70 1 144 2.1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202089
AA Change: I15V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: I15V

DomainStartEndE-ValueType
Pfam:HSP70 3 103 1.3e-33 PFAM
Pfam:HSP70 98 668 8.5e-135 PFAM
low complexity region 715 727 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202361
AA Change: I15V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: I15V

DomainStartEndE-ValueType
Pfam:HSP70 3 709 7.3e-190 PFAM
low complexity region 756 768 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201666
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene leads to decreased susceptibility to ischemic brain injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c A T 7: 83,800,622 (GRCm39) I144N possibly damaging Het
Adamts19 T A 18: 59,096,535 (GRCm39) H588Q probably damaging Het
Ankrd2 A G 19: 42,028,349 (GRCm39) K46E probably damaging Het
Arhgap10 A C 8: 78,072,920 (GRCm39) L513V possibly damaging Het
Arhgef12 C A 9: 42,901,351 (GRCm39) R817L probably damaging Het
Asxl3 T A 18: 22,650,712 (GRCm39) N900K probably damaging Het
Atp9b A T 18: 80,887,826 (GRCm39) probably benign Het
Cdc27 T C 11: 104,398,042 (GRCm39) N773D probably damaging Het
Cep97 A G 16: 55,750,981 (GRCm39) probably benign Het
Dgkd T C 1: 87,808,133 (GRCm39) F67S probably damaging Het
Dolk T C 2: 30,175,749 (GRCm39) T99A probably benign Het
Egfr A T 11: 16,813,014 (GRCm39) R165W probably benign Het
Fat2 T A 11: 55,172,982 (GRCm39) D2577V probably damaging Het
Idh2 T C 7: 79,747,693 (GRCm39) T276A probably benign Het
Jag1 T C 2: 136,926,897 (GRCm39) Y954C probably damaging Het
Kat2a A T 11: 100,602,735 (GRCm39) W118R probably damaging Het
Kcnh6 G T 11: 105,911,522 (GRCm39) R636L probably benign Het
Klk1b16 G T 7: 43,790,163 (GRCm39) K144N probably benign Het
Lrrk2 T A 15: 91,696,516 (GRCm39) L2435I possibly damaging Het
Ltbp3 A G 19: 5,797,867 (GRCm39) D502G probably benign Het
Ltn1 A T 16: 87,178,359 (GRCm39) N1623K probably benign Het
Mcm10 C A 2: 5,013,439 (GRCm39) E64D probably benign Het
Med13l A G 5: 118,880,400 (GRCm39) N1164S probably damaging Het
Myo1a A G 10: 127,556,529 (GRCm39) N1025D probably benign Het
Or2m12 A T 16: 19,105,450 (GRCm39) D14E probably benign Het
Or8g27 C T 9: 39,129,427 (GRCm39) T258I probably benign Het
Pdcd11 A G 19: 47,098,068 (GRCm39) N785D probably benign Het
Psmd8 A T 7: 28,878,576 (GRCm39) I81N probably damaging Het
Rigi G A 4: 40,225,685 (GRCm39) H194Y probably benign Het
Ryr1 C T 7: 28,774,652 (GRCm39) G2330R probably damaging Het
Scrib T C 15: 75,921,084 (GRCm39) T80A possibly damaging Het
Sergef A T 7: 46,092,942 (GRCm39) W356R probably damaging Het
Slc22a19 T C 19: 7,660,300 (GRCm39) N370S probably damaging Het
Syde1 A G 10: 78,426,015 (GRCm39) S51P probably benign Het
Umodl1 A T 17: 31,215,233 (GRCm39) D1019V possibly damaging Het
Vmn2r45 A G 7: 8,486,493 (GRCm39) M265T probably benign Het
Other mutations in Hsph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Hsph1 APN 5 149,542,254 (GRCm39) missense possibly damaging 0.95
IGL00839:Hsph1 APN 5 149,541,919 (GRCm39) missense possibly damaging 0.47
IGL00965:Hsph1 APN 5 149,554,269 (GRCm39) missense probably damaging 1.00
IGL01613:Hsph1 APN 5 149,550,743 (GRCm39) missense probably benign 0.34
IGL02023:Hsph1 APN 5 149,557,324 (GRCm39) missense probably damaging 1.00
IGL02272:Hsph1 APN 5 149,540,995 (GRCm39) missense probably benign 0.00
IGL02754:Hsph1 APN 5 149,547,057 (GRCm39) missense possibly damaging 0.95
R0666:Hsph1 UTSW 5 149,554,967 (GRCm39) missense probably damaging 1.00
R1061:Hsph1 UTSW 5 149,541,883 (GRCm39) missense possibly damaging 0.93
R1163:Hsph1 UTSW 5 149,554,266 (GRCm39) missense probably damaging 1.00
R1511:Hsph1 UTSW 5 149,553,848 (GRCm39) missense probably benign 0.03
R1794:Hsph1 UTSW 5 149,554,238 (GRCm39) missense probably damaging 1.00
R1806:Hsph1 UTSW 5 149,553,454 (GRCm39) missense probably damaging 0.99
R1847:Hsph1 UTSW 5 149,546,950 (GRCm39) nonsense probably null
R2143:Hsph1 UTSW 5 149,554,951 (GRCm39) missense probably damaging 0.99
R2144:Hsph1 UTSW 5 149,553,802 (GRCm39) critical splice donor site probably null
R2917:Hsph1 UTSW 5 149,554,251 (GRCm39) nonsense probably null
R3840:Hsph1 UTSW 5 149,544,180 (GRCm39) splice site probably null
R3841:Hsph1 UTSW 5 149,544,180 (GRCm39) splice site probably null
R4378:Hsph1 UTSW 5 149,559,472 (GRCm39) nonsense probably null
R4577:Hsph1 UTSW 5 149,542,308 (GRCm39) missense probably benign 0.03
R4618:Hsph1 UTSW 5 149,542,308 (GRCm39) missense probably benign 0.03
R4621:Hsph1 UTSW 5 149,542,308 (GRCm39) missense probably benign 0.03
R5898:Hsph1 UTSW 5 149,548,623 (GRCm39) missense probably damaging 1.00
R6114:Hsph1 UTSW 5 149,550,852 (GRCm39) missense possibly damaging 0.53
R6185:Hsph1 UTSW 5 149,541,160 (GRCm39) missense probably damaging 1.00
R6432:Hsph1 UTSW 5 149,542,441 (GRCm39) missense probably damaging 0.99
R6678:Hsph1 UTSW 5 149,541,962 (GRCm39) missense probably benign 0.00
R7014:Hsph1 UTSW 5 149,553,865 (GRCm39) missense probably damaging 1.00
R7189:Hsph1 UTSW 5 149,553,925 (GRCm39) missense probably damaging 1.00
R7438:Hsph1 UTSW 5 149,542,485 (GRCm39) missense probably damaging 1.00
R7502:Hsph1 UTSW 5 149,553,838 (GRCm39) missense probably damaging 1.00
R7621:Hsph1 UTSW 5 149,555,540 (GRCm39) missense probably damaging 0.99
R7625:Hsph1 UTSW 5 149,541,901 (GRCm39) missense probably benign 0.00
R8480:Hsph1 UTSW 5 149,551,029 (GRCm39) missense probably null 1.00
R8841:Hsph1 UTSW 5 149,550,789 (GRCm39) missense probably damaging 0.97
R8858:Hsph1 UTSW 5 149,548,576 (GRCm39) missense probably damaging 1.00
R9031:Hsph1 UTSW 5 149,553,270 (GRCm39) missense probably damaging 0.99
R9371:Hsph1 UTSW 5 149,543,395 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03