Incidental Mutation 'IGL02272:Hsph1'
ID 287216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsph1
Ensembl Gene ENSMUSG00000029657
Gene Name heat shock 105kDa/110kDa protein 1
Synonyms Hsp105, hsp-E7I, HSP110
Accession Numbers
Essential gene? Possibly essential (E-score: 0.600) question?
Stock # IGL02272
Quality Score
Status
Chromosome 5
Chromosomal Location 149614287-149636376 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149617530 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 852 (S852P)
Ref Sequence ENSEMBL: ENSMUSP00000144413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074846] [ENSMUST00000201452] [ENSMUST00000202089] [ENSMUST00000202361]
AlphaFold Q61699
Predicted Effect probably benign
Transcript: ENSMUST00000074846
AA Change: S808P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: S808P

DomainStartEndE-ValueType
Pfam:HSP70 3 709 7.3e-190 PFAM
low complexity region 756 768 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201431
Predicted Effect probably benign
Transcript: ENSMUST00000201452
AA Change: S852P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: S852P

DomainStartEndE-ValueType
Pfam:HSP70 3 709 7.3e-190 PFAM
low complexity region 756 768 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201877
Predicted Effect probably benign
Transcript: ENSMUST00000202089
AA Change: S811P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: S811P

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 noncoding transcript
Transcript: ENSMUST00000202137
Predicted Effect probably benign
Transcript: ENSMUST00000202361
AA Change: S852P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: S852P

DomainStartEndE-ValueType
Pfam:HSP70 3 709 7.3e-190 PFAM
low complexity region 756 768 N/A INTRINSIC
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,450,021 (GRCm38) C759* probably null Het
Adgrg6 T A 10: 14,468,829 (GRCm38) M127L probably damaging Het
AI314180 A T 4: 58,811,731 (GRCm38) N1439K probably benign Het
Anxa9 A G 3: 95,305,894 (GRCm38) V47A probably benign Het
Arhgef12 T A 9: 43,001,452 (GRCm38) D483V probably damaging Het
Arrdc3 C A 13: 80,891,650 (GRCm38) probably benign Het
Ccdc169 A G 3: 55,150,748 (GRCm38) E67G probably damaging Het
Ccdc191 T A 16: 43,960,022 (GRCm38) V731D possibly damaging Het
Cdh3 G T 8: 106,547,836 (GRCm38) probably null Het
Cntnap1 G A 11: 101,178,316 (GRCm38) V199M probably damaging Het
Cntnap3 A T 13: 64,757,411 (GRCm38) V852E probably damaging Het
Csmd1 A T 8: 16,199,893 (GRCm38) S1024T probably damaging Het
Cyp3a25 T C 5: 145,993,265 (GRCm38) probably benign Het
Dusp6 T A 10: 99,266,019 (GRCm38) V289D probably damaging Het
Epha6 C T 16: 59,818,937 (GRCm38) R858Q probably damaging Het
Flrt2 T A 12: 95,779,704 (GRCm38) F272Y probably damaging Het
Gbf1 T A 19: 46,269,803 (GRCm38) W846R probably damaging Het
Gtpbp2 T A 17: 46,164,781 (GRCm38) V152E probably benign Het
Hmces A G 6: 87,917,855 (GRCm38) probably null Het
Kat6b A C 14: 21,626,778 (GRCm38) K394Q probably damaging Het
Kdr G A 5: 75,961,840 (GRCm38) T475I probably benign Het
Klhl25 A G 7: 75,866,620 (GRCm38) T425A probably benign Het
Klk1b8 T A 7: 43,952,793 (GRCm38) C50S probably damaging Het
Kri1 T C 9: 21,276,168 (GRCm38) Y343C probably damaging Het
Lamb1 T C 12: 31,305,769 (GRCm38) S953P probably benign Het
Lpin1 A G 12: 16,547,600 (GRCm38) V681A probably damaging Het
Lpin3 A G 2: 160,901,661 (GRCm38) T508A probably benign Het
Moxd1 T A 10: 24,282,700 (GRCm38) Y417* probably null Het
Mthfd1l T G 10: 4,041,812 (GRCm38) I588S probably damaging Het
Myo5c C A 9: 75,266,160 (GRCm38) N543K possibly damaging Het
Myo9a T A 9: 59,884,600 (GRCm38) probably benign Het
Nme8 T C 13: 19,658,826 (GRCm38) Y393C probably damaging Het
Nr2e1 T G 10: 42,567,979 (GRCm38) N249T probably damaging Het
Pex11g A G 8: 3,465,898 (GRCm38) V45A probably benign Het
Pkhd1 C A 1: 20,209,260 (GRCm38) G2945W probably damaging Het
Plxnd1 A G 6: 115,993,628 (GRCm38) F393S probably damaging Het
Ppp3cc A G 14: 70,236,489 (GRCm38) V353A probably damaging Het
Prss16 T A 13: 22,003,035 (GRCm38) Q455L probably damaging Het
Ptpn6 A T 6: 124,721,208 (GRCm38) V524E probably damaging Het
Rap1gap A G 4: 137,716,566 (GRCm38) Y163C probably damaging Het
Rnf31 C T 14: 55,598,782 (GRCm38) L598F probably damaging Het
Sardh T G 2: 27,224,991 (GRCm38) D550A probably benign Het
Serpinc1 T G 1: 160,999,992 (GRCm38) I387S probably damaging Het
Sh3d19 A T 3: 86,121,167 (GRCm38) D650V probably benign Het
Sipa1l2 T A 8: 125,492,011 (GRCm38) T196S probably damaging Het
Slc25a46 T C 18: 31,583,568 (GRCm38) T294A probably benign Het
Srrm2 T C 17: 23,815,782 (GRCm38) probably benign Het
Steap2 T A 5: 5,677,612 (GRCm38) N241I probably benign Het
Tcaf3 T C 6: 42,596,660 (GRCm38) Y206C probably damaging Het
Tmem259 T A 10: 79,978,463 (GRCm38) Q322L probably damaging Het
Tnni2 C A 7: 142,443,429 (GRCm38) Q52K possibly damaging Het
Ttn A G 2: 76,735,028 (GRCm38) V28285A possibly damaging Het
Uba7 T A 9: 107,976,153 (GRCm38) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm38) K331N probably damaging Het
Usp50 G A 2: 126,769,944 (GRCm38) T232I probably damaging Het
Vmn2r116 G A 17: 23,385,999 (GRCm38) M95I probably benign Het
Vmn2r116 T A 17: 23,386,004 (GRCm38) L97Q probably damaging Het
Vmn2r24 A T 6: 123,786,884 (GRCm38) N240I possibly damaging Het
Vmn2r72 T C 7: 85,750,693 (GRCm38) R383G probably benign Het
Other mutations in Hsph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Hsph1 APN 5 149,618,789 (GRCm38) missense possibly damaging 0.95
IGL00839:Hsph1 APN 5 149,618,454 (GRCm38) missense possibly damaging 0.47
IGL00965:Hsph1 APN 5 149,630,804 (GRCm38) missense probably damaging 1.00
IGL01529:Hsph1 APN 5 149,636,034 (GRCm38) missense probably benign 0.01
IGL01613:Hsph1 APN 5 149,627,278 (GRCm38) missense probably benign 0.34
IGL02023:Hsph1 APN 5 149,633,859 (GRCm38) missense probably damaging 1.00
IGL02754:Hsph1 APN 5 149,623,592 (GRCm38) missense possibly damaging 0.95
R0666:Hsph1 UTSW 5 149,631,502 (GRCm38) missense probably damaging 1.00
R1061:Hsph1 UTSW 5 149,618,418 (GRCm38) missense possibly damaging 0.93
R1163:Hsph1 UTSW 5 149,630,801 (GRCm38) missense probably damaging 1.00
R1511:Hsph1 UTSW 5 149,630,383 (GRCm38) missense probably benign 0.03
R1794:Hsph1 UTSW 5 149,630,773 (GRCm38) missense probably damaging 1.00
R1806:Hsph1 UTSW 5 149,629,989 (GRCm38) missense probably damaging 0.99
R1847:Hsph1 UTSW 5 149,623,485 (GRCm38) nonsense probably null
R2143:Hsph1 UTSW 5 149,631,486 (GRCm38) missense probably damaging 0.99
R2144:Hsph1 UTSW 5 149,630,337 (GRCm38) critical splice donor site probably null
R2917:Hsph1 UTSW 5 149,630,786 (GRCm38) nonsense probably null
R3840:Hsph1 UTSW 5 149,620,715 (GRCm38) splice site probably null
R3841:Hsph1 UTSW 5 149,620,715 (GRCm38) splice site probably null
R4378:Hsph1 UTSW 5 149,636,007 (GRCm38) nonsense probably null
R4577:Hsph1 UTSW 5 149,618,843 (GRCm38) missense probably benign 0.03
R4618:Hsph1 UTSW 5 149,618,843 (GRCm38) missense probably benign 0.03
R4621:Hsph1 UTSW 5 149,618,843 (GRCm38) missense probably benign 0.03
R5898:Hsph1 UTSW 5 149,625,158 (GRCm38) missense probably damaging 1.00
R6114:Hsph1 UTSW 5 149,627,387 (GRCm38) missense possibly damaging 0.53
R6185:Hsph1 UTSW 5 149,617,695 (GRCm38) missense probably damaging 1.00
R6432:Hsph1 UTSW 5 149,618,976 (GRCm38) missense probably damaging 0.99
R6678:Hsph1 UTSW 5 149,618,497 (GRCm38) missense probably benign 0.00
R7014:Hsph1 UTSW 5 149,630,400 (GRCm38) missense probably damaging 1.00
R7189:Hsph1 UTSW 5 149,630,460 (GRCm38) missense probably damaging 1.00
R7438:Hsph1 UTSW 5 149,619,020 (GRCm38) missense probably damaging 1.00
R7502:Hsph1 UTSW 5 149,630,373 (GRCm38) missense probably damaging 1.00
R7621:Hsph1 UTSW 5 149,632,075 (GRCm38) missense probably damaging 0.99
R7625:Hsph1 UTSW 5 149,618,436 (GRCm38) missense probably benign 0.00
R8480:Hsph1 UTSW 5 149,627,564 (GRCm38) missense probably null 1.00
R8841:Hsph1 UTSW 5 149,627,324 (GRCm38) missense probably damaging 0.97
R8858:Hsph1 UTSW 5 149,625,111 (GRCm38) missense probably damaging 1.00
R9031:Hsph1 UTSW 5 149,629,805 (GRCm38) missense probably damaging 0.99
R9371:Hsph1 UTSW 5 149,619,930 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16