Incidental Mutation 'R1794:Hsph1'
ID 202035
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 039824-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.618) question?
Stock # R1794 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 149537752-149559841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 149554238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 79 (N79K)
Ref Sequence ENSEMBL: ENSMUSP00000144043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074846] [ENSMUST00000200805] [ENSMUST00000200825] [ENSMUST00000201452] [ENSMUST00000201559] [ENSMUST00000202361] [ENSMUST00000202089]
AlphaFold Q61699
Predicted Effect probably damaging
Transcript: ENSMUST00000074846
AA Change: N172K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: N172K

DomainStartEndE-ValueType
Pfam:HSP70 3 709 7.3e-190 PFAM
low complexity region 756 768 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200805
AA Change: N79K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143925
Gene: ENSMUSG00000029657
AA Change: N79K

DomainStartEndE-ValueType
Pfam:HSP70 1 94 5.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200825
SMART Domains Protein: ENSMUSP00000143913
Gene: ENSMUSG00000029657

DomainStartEndE-ValueType
Pfam:HSP70 3 100 1.4e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201431
Predicted Effect probably damaging
Transcript: ENSMUST00000201452
AA Change: N172K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: N172K

DomainStartEndE-ValueType
Pfam:HSP70 3 709 7.3e-190 PFAM
low complexity region 756 768 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000201559
AA Change: N79K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144043
Gene: ENSMUSG00000029657
AA Change: N79K

DomainStartEndE-ValueType
Pfam:HSP70 1 144 2.1e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000202361
AA Change: N172K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: N172K

DomainStartEndE-ValueType
Pfam:HSP70 3 709 7.3e-190 PFAM
low complexity region 756 768 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000202089
AA Change: N131K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: N131K

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: ENSMUST00000201666
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.8%
  • 20x: 91.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa7 A G 14: 20,521,535 (GRCm39) Y54H unknown Het
Arhgef3 A G 14: 27,119,562 (GRCm39) T331A probably benign Het
Arhgef40 G T 14: 52,227,387 (GRCm39) C477F possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp13a5 C A 16: 29,140,527 (GRCm39) R343L probably damaging Het
Brdt ACAGCAGCAGCAGCAGC ACAGCAGCAGCAGC 5: 107,507,719 (GRCm39) probably benign Het
Btbd2 G T 10: 80,479,747 (GRCm39) D426E probably damaging Het
Cabin1 A C 10: 75,561,579 (GRCm39) I974R possibly damaging Het
Cacna1i G A 15: 80,273,323 (GRCm39) V1670M probably damaging Het
Cc2d2a C A 5: 43,845,594 (GRCm39) Q288K probably damaging Het
Ccl20 T A 1: 83,095,550 (GRCm39) I37K possibly damaging Het
Cdcp1 A G 9: 123,019,159 (GRCm39) V40A probably benign Het
Cdcp1 T C 9: 123,044,896 (GRCm39) T27A probably benign Het
Cdh4 C T 2: 179,528,635 (GRCm39) T581I probably damaging Het
Cgn A G 3: 94,669,864 (GRCm39) probably null Het
Col7a1 G A 9: 108,794,996 (GRCm39) G1493D unknown Het
Creb3 A G 4: 43,563,302 (GRCm39) E133G probably benign Het
Dchs1 T C 7: 105,420,927 (GRCm39) T498A probably benign Het
Dis3l A C 9: 64,225,058 (GRCm39) V413G possibly damaging Het
Dnah6 T C 6: 73,001,941 (GRCm39) E3865G probably damaging Het
Fam219b A G 9: 57,446,564 (GRCm39) Y139C probably damaging Het
Fat3 A T 9: 15,908,432 (GRCm39) Y2523* probably null Het
Fat3 A T 9: 15,908,434 (GRCm39) Y2523N probably benign Het
Fmnl1 T C 11: 103,087,973 (GRCm39) S40P probably benign Het
Gm4792 T C 10: 94,134,352 (GRCm39) D6G unknown Het
Hhat G T 1: 192,376,214 (GRCm39) Y306* probably null Het
Hmcn1 A G 1: 150,474,036 (GRCm39) I4802T probably benign Het
Hmcn1 G A 1: 150,502,903 (GRCm39) T3908I probably damaging Het
Ikbke T A 1: 131,186,955 (GRCm39) Y579F probably damaging Het
Jak2 A G 19: 29,276,957 (GRCm39) D838G probably benign Het
Klhdc7b T C 15: 89,271,223 (GRCm39) S702P probably benign Het
Lingo3 C A 10: 80,671,432 (GRCm39) R166L probably benign Het
Lins1 T C 7: 66,361,657 (GRCm39) F436S probably damaging Het
Lman1 T C 18: 66,124,755 (GRCm39) D328G probably benign Het
Lox A G 18: 52,661,379 (GRCm39) C232R probably damaging Het
Lrrc59 T C 11: 94,529,421 (GRCm39) V165A probably benign Het
Map9 A G 3: 82,287,528 (GRCm39) D50G probably damaging Het
Marchf1 T A 8: 66,839,594 (GRCm39) Y126N possibly damaging Het
Mcf2l T C 8: 12,965,982 (GRCm39) F3L probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nin G A 12: 70,090,569 (GRCm39) Q949* probably null Het
Nlgn3 A G X: 100,363,639 (GRCm39) H636R probably benign Het
Notch2 A G 3: 98,006,863 (GRCm39) D411G possibly damaging Het
Or4c52 A G 2: 89,845,364 (GRCm39) Y30C probably damaging Het
Or5b24 G C 19: 12,912,332 (GRCm39) A77P probably damaging Het
Pate7 T A 9: 35,688,418 (GRCm39) I56F probably benign Het
Plekha7 A G 7: 115,739,916 (GRCm39) V579A probably damaging Het
Prrc2c T C 1: 162,533,528 (GRCm39) probably benign Het
Rab7b T C 1: 131,624,806 (GRCm39) probably null Het
Reg3b G T 6: 78,349,197 (GRCm39) probably null Het
Rgs20 A G 1: 4,980,795 (GRCm39) Y177H probably damaging Het
Ripk3 G T 14: 56,022,786 (GRCm39) N379K probably benign Het
Rnf220 G T 4: 117,164,765 (GRCm39) Q7K probably benign Het
Ros1 T A 10: 52,000,199 (GRCm39) K1109* probably null Het
Slc22a7 T G 17: 46,744,079 (GRCm39) R460S probably damaging Het
Slc4a2 A G 5: 24,644,326 (GRCm39) M975V probably damaging Het
Slc4a3 A T 1: 75,533,952 (GRCm39) I1100F probably damaging Het
Smco1 A G 16: 32,092,950 (GRCm39) E207G probably benign Het
Snrnp200 A G 2: 127,058,656 (GRCm39) E369G probably benign Het
Spata31d1e T C 13: 59,890,434 (GRCm39) E44G probably benign Het
Tcf4 T A 18: 69,790,924 (GRCm39) M178K probably benign Het
Tex2 T C 11: 106,458,728 (GRCm39) probably benign Het
Tjp1 A T 7: 64,972,877 (GRCm39) I521N probably damaging Het
Tmem203 A G 2: 25,146,006 (GRCm39) T109A probably benign Het
Tmem50b T C 16: 91,374,917 (GRCm39) I126V probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a T C 1: 188,595,006 (GRCm39) F3813L probably benign Het
Vmn1r203 C T 13: 22,708,521 (GRCm39) R101W probably damaging Het
Vmn2r79 G A 7: 86,650,621 (GRCm39) V136I probably benign Het
Wdr38 A G 2: 38,890,741 (GRCm39) Y205C probably damaging Het
Zfp248 A G 6: 118,406,264 (GRCm39) F442L probably damaging Het
Znrf4 A G 17: 56,818,599 (GRCm39) I236T 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
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
Predicted Primers PCR Primer
(F):5'- ATTACCAGCAAGTCACAAATGG -3'
(R):5'- GGCAGCTCTGAAAGTCAAGG -3'

Sequencing Primer
(F):5'- GCAAGTCACAAATGGTACCTG -3'
(R):5'- GCTAGAAACCAAGTCTAAGTCTCTG -3'
Posted On 2014-06-23