Incidental Mutation 'R6185:Hsph1'
ID 502097
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 044325-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.618) question?
Stock # R6185 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 149537752-149559841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 149541160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 753 (C753S)
Ref Sequence ENSEMBL: ENSMUSP00000074392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074846] [ENSMUST00000201452] [ENSMUST00000202089] [ENSMUST00000202361]
AlphaFold Q61699
Predicted Effect probably damaging
Transcript: ENSMUST00000074846
AA Change: C753S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: C753S

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: C797S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: C797S

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 damaging
Transcript: ENSMUST00000202089
AA Change: C756S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: C756S

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: C797S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: C797S

DomainStartEndE-ValueType
Pfam:HSP70 3 709 7.3e-190 PFAM
low complexity region 756 768 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (80/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,078,089 (GRCm39) H894Q probably benign Het
Abca4 A T 3: 121,919,789 (GRCm39) I1024F probably damaging Het
Acadl A G 1: 66,877,522 (GRCm39) V343A possibly damaging Het
Akr1e1 T A 13: 4,651,252 (GRCm39) I123L probably benign Het
Angptl2 T C 2: 33,119,026 (GRCm39) S267P probably benign Het
Ap2a1 T G 7: 44,565,594 (GRCm39) K91T probably damaging Het
Bend7 A T 2: 4,793,333 (GRCm39) Q379L probably damaging Het
Bicdl1 C T 5: 115,808,212 (GRCm39) probably null Het
Cachd1 C A 4: 100,838,228 (GRCm39) Y830* probably null Het
Ccdc158 T A 5: 92,814,713 (GRCm39) I38F possibly damaging Het
Cep97 T A 16: 55,735,455 (GRCm39) M448L probably benign Het
Chd9 A G 8: 91,775,765 (GRCm39) D2572G probably damaging Het
Clcnkb C T 4: 141,141,825 (GRCm39) V54M probably benign Het
Cln8 A G 8: 14,946,544 (GRCm39) D186G probably benign Het
Crxos C T 7: 15,636,805 (GRCm39) S22L possibly damaging Het
Cx3cr1 A T 9: 119,880,444 (GRCm39) H319Q probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Dmrta1 A G 4: 89,580,005 (GRCm39) R322G probably damaging Het
Dpf1 A G 7: 29,010,696 (GRCm39) E103G possibly damaging Het
Dsg1b T G 18: 20,532,543 (GRCm39) V529G probably benign Het
Dst G A 1: 34,212,161 (GRCm39) V1361I probably damaging Het
Epha4 T C 1: 77,483,743 (GRCm39) I89V probably damaging Het
Etfdh G T 3: 79,513,114 (GRCm39) H370N probably benign Het
Fam186a A G 15: 99,845,530 (GRCm39) I238T unknown Het
Fbxl5 T A 5: 43,978,894 (GRCm39) S19C probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fryl A G 5: 73,270,131 (GRCm39) V367A probably benign Het
Gm19410 T A 8: 36,274,664 (GRCm39) L1495H possibly damaging Het
Gm19965 A G 1: 116,749,003 (GRCm39) E228G possibly damaging Het
Gpr89 C A 3: 96,798,149 (GRCm39) C169F probably damaging Het
Hmcn1 A T 1: 150,491,189 (GRCm39) probably null Het
Igf2 T A 7: 142,212,118 (GRCm39) S4C possibly damaging Het
Kansl3 A T 1: 36,385,099 (GRCm39) S486T probably damaging Het
Khdrbs1 G C 4: 129,636,068 (GRCm39) probably benign Het
Lnx1 A T 5: 74,846,269 (GRCm39) C60* probably null Het
Lrpprc T C 17: 85,074,452 (GRCm39) D485G probably benign Het
Ly6i A T 15: 74,851,879 (GRCm39) S97T possibly damaging Het
Me2 G A 18: 73,924,199 (GRCm39) Q338* probably null Het
Med16 A T 10: 79,732,197 (GRCm39) L790Q probably damaging Het
Muc16 G T 9: 18,565,769 (GRCm39) T2250K unknown Het
Myo10 T G 15: 25,726,596 (GRCm39) F273C probably damaging Het
Neil3 T A 8: 54,052,182 (GRCm39) H472L probably benign Het
Nrxn1 T A 17: 90,344,564 (GRCm39) S57C probably damaging Het
Nup188 A T 2: 30,231,722 (GRCm39) T1439S probably damaging Het
Or10g3 T C 14: 52,610,019 (GRCm39) T164A possibly damaging Het
Or10g7 T C 9: 39,905,420 (GRCm39) F105L probably benign Het
Or5w10 A G 2: 87,375,087 (GRCm39) M267T possibly damaging Het
Otud7a T A 7: 63,408,133 (GRCm39) L812Q probably damaging Het
Paip2b C T 6: 83,786,952 (GRCm39) A95T probably benign Het
Pax4 C T 6: 28,446,347 (GRCm39) V49I probably damaging Het
Plek C T 11: 16,931,829 (GRCm39) A341T probably damaging Het
Prkag1 G A 15: 98,723,595 (GRCm39) P10L probably benign Het
R3hdm1 A C 1: 128,079,598 (GRCm39) D15A possibly damaging Het
Rad54b A T 4: 11,593,804 (GRCm39) D144V possibly damaging Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Sbf1 A G 15: 89,189,814 (GRCm39) L379P probably damaging Het
Sec14l3 A T 11: 4,025,244 (GRCm39) I285F probably damaging Het
Sec31b A T 19: 44,531,723 (GRCm39) I62N possibly damaging Het
Selp A G 1: 163,953,915 (GRCm39) N72D probably damaging Het
Sipa1l1 T A 12: 82,471,802 (GRCm39) S1261T probably damaging Het
Sipa1l2 A T 8: 126,194,992 (GRCm39) Y915* probably null Het
Slc22a27 A T 19: 7,903,953 (GRCm39) D61E probably benign Het
Slc2a7 A G 4: 150,233,450 (GRCm39) T8A probably benign Het
Slc5a2 T C 7: 127,870,349 (GRCm39) I529T probably damaging Het
Spart A C 3: 55,024,640 (GRCm39) Q78H probably damaging Het
Spocd1 T C 4: 129,850,242 (GRCm39) I756T probably benign Het
Stc1 G A 14: 69,275,813 (GRCm39) C202Y probably damaging Het
Stk10 A G 11: 32,527,749 (GRCm39) T166A probably benign Het
Syt6 A T 3: 103,492,844 (GRCm39) D32V probably damaging Het
Tanc1 T A 2: 59,621,929 (GRCm39) probably null Het
Tanc2 T A 11: 105,803,865 (GRCm39) N297K probably damaging Het
Telo2 A G 17: 25,321,014 (GRCm39) S734P probably benign Het
Tfrc T A 16: 32,437,090 (GRCm39) Y250N probably benign Het
Tmem97 C T 11: 78,434,388 (GRCm39) W65* probably null Het
Ubr3 T C 2: 69,768,621 (GRCm39) M476T probably damaging Het
Ubtf T C 11: 102,204,849 (GRCm39) T117A probably damaging Het
Usp17lb T A 7: 104,490,631 (GRCm39) M99L probably benign Het
Uvrag A C 7: 98,790,039 (GRCm39) probably null Het
Vmn2r63 A G 7: 42,578,435 (GRCm39) S153P probably damaging Het
Vmn2r90 A T 17: 17,953,644 (GRCm39) T603S probably damaging Het
Vps8 C A 16: 21,288,891 (GRCm39) L417I 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
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
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'- CAAACACATCTCATGAAGTGGGG -3'
(R):5'- AGGCAGTCAGTTGATTAGGAGTC -3'

Sequencing Primer
(F):5'- CTAGTCCAGGTCCATGTTGACAGAG -3'
(R):5'- AGTCATTGTGATTGATTGATGCAGC -3'
Posted On 2018-02-27