Incidental Mutation 'R5898:Hsph1'
ID 457647
Institutional Source Beutler Lab
Gene Symbol Hsph1
Ensembl Gene ENSMUSG00000029657
Gene Name heat shock 105kDa/110kDa protein 1
Synonyms HSP110, hsp110/105, hsp-E7I, Hsp105
MMRRC Submission 044097-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.618) question?
Stock # R5898 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 149537752-149559841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 149548623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 466 (N466K)
Ref Sequence ENSEMBL: ENSMUSP00000144413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074846] [ENSMUST00000201452] [ENSMUST00000201559] [ENSMUST00000202089] [ENSMUST00000202361]
AlphaFold Q61699
Predicted Effect probably damaging
Transcript: ENSMUST00000074846
AA Change: N466K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: N466K

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 damaging
Transcript: ENSMUST00000201452
AA Change: N466K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: N466K

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 damaging
Transcript: ENSMUST00000202089
AA Change: N425K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: N425K

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 damaging
Transcript: ENSMUST00000202361
AA Change: N466K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: N466K

DomainStartEndE-ValueType
Pfam:HSP70 3 709 7.3e-190 PFAM
low complexity region 756 768 N/A INTRINSIC
Meta Mutation Damage Score 0.0988 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 96% (86/90)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G T 10: 100,448,762 (GRCm39) R158L possibly damaging Het
1700017N19Rik G A 10: 100,451,070 (GRCm39) M179I probably benign Het
Abhd12 T C 2: 150,681,698 (GRCm39) I231V possibly damaging Het
Adsl A G 15: 80,845,554 (GRCm39) probably null Het
Ahnak C A 19: 8,991,131 (GRCm39) N4138K possibly damaging Het
Ahnak T C 19: 8,995,575 (GRCm39) S5620P probably damaging Het
Akap13 C T 7: 75,378,894 (GRCm39) T2145I probably damaging Het
Alpk2 T A 18: 65,440,694 (GRCm39) Q700L probably damaging Het
Apobec1 T C 6: 122,557,732 (GRCm39) Y159C probably damaging Het
Atg9a T C 1: 75,162,916 (GRCm39) T395A probably damaging Het
Atp6v1f A G 6: 29,467,957 (GRCm39) I48V probably benign Het
BC051665 A C 13: 60,930,518 (GRCm39) V278G probably damaging Het
Bicd1 A T 6: 149,415,201 (GRCm39) H638L probably damaging Het
Cacna2d4 A G 6: 119,251,192 (GRCm39) Y460C probably damaging Het
Ccdc157 C A 11: 4,094,538 (GRCm39) R496L probably benign Het
Cdcp3 T G 7: 130,843,696 (GRCm39) probably null Het
Cep44 C G 8: 56,994,056 (GRCm39) V174L probably damaging Het
Clca3a1 G T 3: 144,722,522 (GRCm39) F283L possibly damaging Het
Csk T C 9: 57,537,585 (GRCm39) T110A probably benign Het
Cspg4 T A 9: 56,792,506 (GRCm39) probably null Het
Cutc A G 19: 43,748,468 (GRCm39) I124V probably benign Het
Cyp2d9 A G 15: 82,339,725 (GRCm39) T104A probably benign Het
Cyp2j9 G T 4: 96,465,951 (GRCm39) T294K probably benign Het
D630003M21Rik T A 2: 158,046,577 (GRCm39) probably null Het
Dcaf15 G T 8: 84,825,081 (GRCm39) F450L probably damaging Het
Ddhd1 A T 14: 45,840,125 (GRCm39) I723K probably damaging Het
Dnah17 C T 11: 118,005,039 (GRCm39) A782T probably benign Het
Dnah3 T C 7: 119,677,724 (GRCm39) D399G probably benign Het
Dync2h1 T C 9: 7,148,717 (GRCm39) N909S probably benign Het
Erbin A G 13: 103,975,813 (GRCm39) probably null Het
Fanci G A 7: 79,083,069 (GRCm39) V682I probably benign Het
Fap A T 2: 62,403,847 (GRCm39) F9L probably benign Het
Fat3 T C 9: 15,849,757 (GRCm39) I3882V probably benign Het
Fkbp15 A T 4: 62,244,294 (GRCm39) probably null Het
Fsd2 T C 7: 81,186,975 (GRCm39) Y601C probably damaging Het
Gm5900 T C 7: 104,599,468 (GRCm39) noncoding transcript Het
Gramd4 G T 15: 85,984,985 (GRCm39) G82V probably damaging Het
Hc C T 2: 34,887,449 (GRCm39) V1352I probably benign Het
Ice2 T A 9: 69,315,544 (GRCm39) D133E probably benign Het
Ifi213 T C 1: 173,396,545 (GRCm39) M510V probably benign Het
Itpkb T G 1: 180,248,880 (GRCm39) L861R probably damaging Het
Kbtbd3 T A 9: 4,330,476 (GRCm39) D283E probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Masp1 T A 16: 23,310,677 (GRCm39) I252F probably damaging Het
Megf11 G T 9: 64,593,246 (GRCm39) C586F probably damaging Het
Myh2 C A 11: 67,083,545 (GRCm39) A1476E possibly damaging Het
Myo18b A T 5: 112,950,196 (GRCm39) probably null Het
Naip6 A T 13: 100,435,829 (GRCm39) V898E possibly damaging Het
Nav1 T C 1: 135,512,884 (GRCm39) M59V probably benign Het
Nlrp3 A T 11: 59,437,678 (GRCm39) Y119F probably benign Het
Oxa1l T A 14: 54,600,758 (GRCm39) I77N possibly damaging Het
Pcdhb8 T A 18: 37,490,537 (GRCm39) D738E possibly damaging Het
Pdia5 A T 16: 35,243,335 (GRCm39) W269R probably damaging Het
Peak1 T A 9: 56,114,622 (GRCm39) T1440S probably benign Het
Piezo1 A G 8: 123,214,682 (GRCm39) V1547A probably benign Het
Pkp1 T C 1: 135,810,259 (GRCm39) Y437C probably damaging Het
Pla2r1 T C 2: 60,253,104 (GRCm39) D1329G probably damaging Het
Ppip5k2 T C 1: 97,671,887 (GRCm39) probably benign Het
Prrg4 C T 2: 104,675,378 (GRCm39) S75N probably benign Het
Psmb9 T A 17: 34,401,266 (GRCm39) I198F probably damaging Het
Rcbtb2 T A 14: 73,399,405 (GRCm39) L23* probably null Het
Sbno1 A T 5: 124,524,854 (GRCm39) probably benign Het
Scn3a T C 2: 65,345,039 (GRCm39) E483G probably damaging Het
Sdccag8 T A 1: 176,652,388 (GRCm39) D46E probably benign Het
Selenov A G 7: 27,987,579 (GRCm39) F293L probably damaging Het
Septin2 A C 1: 93,407,023 (GRCm39) D20A probably benign Het
Shc1 T A 3: 89,334,274 (GRCm39) Y313* probably null Het
Siglec1 T A 2: 130,915,553 (GRCm39) Y1346F probably damaging Het
Slc22a5 T A 11: 53,764,559 (GRCm39) I296F probably damaging Het
Slc9c1 A G 16: 45,365,123 (GRCm39) N152S probably damaging Het
Smoc1 C T 12: 81,151,531 (GRCm39) R83* probably null Het
Ssx2ip A G 3: 146,133,586 (GRCm39) D227G possibly damaging Het
Tbrg4 T C 11: 6,567,372 (GRCm39) D576G probably damaging Het
Tbx20 T A 9: 24,670,155 (GRCm39) Y226F probably damaging Het
Trav10d G T 14: 53,048,929 (GRCm39) A107S probably damaging Het
Trim60 A T 8: 65,453,016 (GRCm39) L411* probably null Het
Ttbk2 A T 2: 120,575,521 (GRCm39) V1083D probably benign Het
Unc93a T A 17: 13,344,464 (GRCm39) Q26L probably damaging Het
Usp14 T A 18: 10,022,819 (GRCm39) N65I possibly damaging Het
Vip A T 10: 5,593,988 (GRCm39) S114C probably damaging Het
Vmn1r237 A T 17: 21,534,813 (GRCm39) I179F probably damaging Het
Wdr47 T A 3: 108,545,201 (GRCm39) probably null Het
Zfp975 A T 7: 42,311,963 (GRCm39) C217S probably damaging 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
IGL01529:Hsph1 APN 5 149,559,499 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- GCCTCTGGTTTGGACATTCC -3'
(R):5'- TTTGGAGGGACACTTCTTTCTC -3'

Sequencing Primer
(F):5'- ACATTCCATGTCTGCCTCGAGAG -3'
(R):5'- AGGGACACTTCTTTCTCATTTGG -3'
Posted On 2017-02-15