Incidental Mutation 'R3615:Hsp90aa1'
ID 473059
Institutional Source Beutler Lab
Gene Symbol Hsp90aa1
Ensembl Gene ENSMUSG00000021270
Gene Name heat shock protein 90, alpha (cytosolic), class A member 1
Synonyms Hspca, Hsp86-1, Hsp89, hsp4, Hsp90
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3615 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 110657470-110662829 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 110662114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000121138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021698] [ENSMUST00000094361] [ENSMUST00000124156] [ENSMUST00000149189] [ENSMUST00000155242]
AlphaFold P07901
Predicted Effect unknown
Transcript: ENSMUST00000021698
AA Change: M1L
SMART Domains Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
AA Change: M1L

DomainStartEndE-ValueType
HATPase_c 40 194 2.94e-11 SMART
Pfam:HSP90 196 733 6.7e-272 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000094361
AA Change: M1L
SMART Domains Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
AA Change: M1L

DomainStartEndE-ValueType
HATPase_c 40 194 2.94e-11 SMART
Pfam:HSP90 196 728 2e-245 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000124156
AA Change: M1L

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121138
Gene: ENSMUSG00000021270
AA Change: M1L

DomainStartEndE-ValueType
PDB:3HHU|B 1 103 1e-69 PDB
SCOP:d1byqa_ 11 103 5e-48 SMART
Blast:HATPase_c 40 103 7e-39 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145255
Predicted Effect probably benign
Transcript: ENSMUST00000149189
AA Change: M1L

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114201
Gene: ENSMUSG00000021270
AA Change: M1L

DomainStartEndE-ValueType
PDB:3HHU|B 1 98 6e-66 PDB
SCOP:d1byqa_ 11 98 2e-45 SMART
Blast:HATPase_c 40 98 2e-35 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000155242
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000118189
Gene: ENSMUSG00000021270
AA Change: M1L

DomainStartEndE-ValueType
HATPase_c 40 194 2.94e-11 SMART
Meta Mutation Damage Score 0.5676 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit male sterility associated with arrested male meiosis and male germ cell apoptosis. Mice homozygous for a transgenic gene disruption exhibit male sterility and small testis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,257 (GRCm39) T818A probably benign Het
Aasdh A G 5: 77,036,629 (GRCm39) V304A probably benign Het
Angptl3 G A 4: 98,922,702 (GRCm39) A248T probably benign Het
Ap2b1 T A 11: 83,215,391 (GRCm39) C112S possibly damaging Het
Aqr A T 2: 113,967,368 (GRCm39) I549N probably damaging Het
Barhl1 C T 2: 28,801,562 (GRCm39) D161N possibly damaging Het
Col28a1 A G 6: 8,014,942 (GRCm39) V821A probably damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dnah1 A G 14: 31,037,105 (GRCm39) L247P possibly damaging Het
Dpysl2 T A 14: 67,071,819 (GRCm39) H107L probably damaging Het
Dzip3 A G 16: 48,757,426 (GRCm39) L869S probably damaging Het
Efs T C 14: 55,157,552 (GRCm39) Y160C probably damaging Het
Enam A T 5: 88,652,306 (GRCm39) N1197Y possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fam184b A G 5: 45,740,157 (GRCm39) V343A possibly damaging Het
Fbxw26 A T 9: 109,572,828 (GRCm39) Y105* probably null Het
Fiz1 A G 7: 5,011,171 (GRCm39) L449P probably benign Het
Foxi2 T A 7: 135,012,180 (GRCm39) C23S possibly damaging Het
Gdf2 G A 14: 33,666,914 (GRCm39) R212Q probably damaging Het
Gm5105 C A 3: 137,755,449 (GRCm39) A46S unknown Het
Grik5 C T 7: 24,721,996 (GRCm39) A581T probably benign Het
Gse1 C G 8: 121,299,481 (GRCm39) probably benign Het
Krt25 A C 11: 99,208,124 (GRCm39) V368G possibly damaging Het
Lacc1 A G 14: 77,270,727 (GRCm39) V269A probably benign Het
Lamc1 T C 1: 153,126,896 (GRCm39) K417E probably damaging Het
Miip A G 4: 147,950,371 (GRCm39) M75T probably benign Het
Nlrp10 A G 7: 108,523,683 (GRCm39) F599S probably benign Het
Nlrp12 T A 7: 3,289,205 (GRCm39) M436L probably benign Het
Or4b13 T C 2: 90,082,753 (GRCm39) E193G possibly damaging Het
Pafah1b1 G A 11: 74,581,058 (GRCm39) S57F probably damaging Het
Pla2g2e G A 4: 138,607,685 (GRCm39) V22I probably benign Het
Plekhd1 A G 12: 80,764,044 (GRCm39) E202G probably damaging Het
Prss21 A G 17: 24,091,805 (GRCm39) T258A probably benign Het
Prss34 A G 17: 25,517,820 (GRCm39) E65G probably benign Het
Psap A G 10: 60,130,383 (GRCm39) N149S probably benign Het
Ptprf C T 4: 118,095,080 (GRCm39) A275T probably benign Het
Sem1 A G 6: 6,578,520 (GRCm39) L12P probably damaging Het
Sf3b3 A G 8: 111,571,155 (GRCm39) Y4H probably damaging Het
Sh3bp4 G T 1: 89,065,427 (GRCm39) R7L probably damaging Het
Slc16a1 T A 3: 104,560,886 (GRCm39) L397Q probably damaging Het
Smg5 A G 3: 88,243,758 (GRCm39) S10G possibly damaging Het
Spata31e5 T C 1: 28,815,656 (GRCm39) D792G probably benign Het
Spata31g1 A G 4: 42,971,864 (GRCm39) N399S probably benign Het
Tas2r102 C T 6: 132,739,781 (GRCm39) Q230* probably null Het
Tdo2 A G 3: 81,882,735 (GRCm39) Y13H possibly damaging Het
Tmem231 C T 8: 112,644,945 (GRCm39) R187H possibly damaging Het
Tmem30b A G 12: 73,592,353 (GRCm39) M254T probably damaging Het
Trpm1 G A 7: 63,893,318 (GRCm39) G1057R probably damaging Het
Tusc3 A T 8: 39,617,879 (GRCm39) K347N probably damaging Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Vash2 T C 1: 190,702,616 (GRCm39) Y117C probably damaging Het
Vrk2 A G 11: 26,439,866 (GRCm39) I235T possibly damaging Het
Wdr20 A G 12: 110,760,373 (GRCm39) T420A probably benign Het
Other mutations in Hsp90aa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02056:Hsp90aa1 APN 12 110,660,449 (GRCm39) unclassified probably benign
IGL02243:Hsp90aa1 APN 12 110,661,525 (GRCm39) missense probably damaging 1.00
IGL02865:Hsp90aa1 APN 12 110,659,516 (GRCm39) missense probably benign 0.11
IGL02965:Hsp90aa1 APN 12 110,662,113 (GRCm39) start codon destroyed probably null 0.95
R0827:Hsp90aa1 UTSW 12 110,659,129 (GRCm39) missense probably benign 0.38
R1331:Hsp90aa1 UTSW 12 110,659,254 (GRCm39) missense probably damaging 1.00
R1498:Hsp90aa1 UTSW 12 110,662,122 (GRCm39) splice site probably null
R2039:Hsp90aa1 UTSW 12 110,660,216 (GRCm39) missense probably damaging 1.00
R2082:Hsp90aa1 UTSW 12 110,659,261 (GRCm39) missense probably damaging 1.00
R2102:Hsp90aa1 UTSW 12 110,660,566 (GRCm39) missense probably damaging 0.99
R2169:Hsp90aa1 UTSW 12 110,659,168 (GRCm39) missense probably damaging 0.99
R2194:Hsp90aa1 UTSW 12 110,662,115 (GRCm39) critical splice acceptor site probably null
R2194:Hsp90aa1 UTSW 12 110,662,114 (GRCm39) start codon destroyed possibly damaging 0.59
R2359:Hsp90aa1 UTSW 12 110,661,003 (GRCm39) critical splice donor site probably null
R2364:Hsp90aa1 UTSW 12 110,659,187 (GRCm39) missense probably damaging 0.99
R2393:Hsp90aa1 UTSW 12 110,659,840 (GRCm39) missense probably damaging 1.00
R2398:Hsp90aa1 UTSW 12 110,658,755 (GRCm39) missense possibly damaging 0.86
R2435:Hsp90aa1 UTSW 12 110,662,115 (GRCm39) critical splice acceptor site probably null
R2435:Hsp90aa1 UTSW 12 110,662,114 (GRCm39) start codon destroyed possibly damaging 0.59
R2924:Hsp90aa1 UTSW 12 110,662,115 (GRCm39) critical splice acceptor site probably null
R2924:Hsp90aa1 UTSW 12 110,662,114 (GRCm39) start codon destroyed possibly damaging 0.59
R2925:Hsp90aa1 UTSW 12 110,662,115 (GRCm39) critical splice acceptor site probably null
R2925:Hsp90aa1 UTSW 12 110,662,114 (GRCm39) start codon destroyed possibly damaging 0.59
R3176:Hsp90aa1 UTSW 12 110,662,115 (GRCm39) critical splice acceptor site probably null
R3176:Hsp90aa1 UTSW 12 110,662,114 (GRCm39) start codon destroyed possibly damaging 0.59
R3177:Hsp90aa1 UTSW 12 110,662,115 (GRCm39) critical splice acceptor site probably null
R3177:Hsp90aa1 UTSW 12 110,662,114 (GRCm39) start codon destroyed possibly damaging 0.59
R3276:Hsp90aa1 UTSW 12 110,662,115 (GRCm39) critical splice acceptor site probably null
R3276:Hsp90aa1 UTSW 12 110,662,114 (GRCm39) start codon destroyed possibly damaging 0.59
R3277:Hsp90aa1 UTSW 12 110,662,115 (GRCm39) critical splice acceptor site probably null
R3277:Hsp90aa1 UTSW 12 110,662,114 (GRCm39) start codon destroyed possibly damaging 0.59
R3615:Hsp90aa1 UTSW 12 110,662,115 (GRCm39) critical splice acceptor site probably null
R3616:Hsp90aa1 UTSW 12 110,662,115 (GRCm39) critical splice acceptor site probably null
R3616:Hsp90aa1 UTSW 12 110,662,114 (GRCm39) start codon destroyed possibly damaging 0.59
R4033:Hsp90aa1 UTSW 12 110,662,114 (GRCm39) start codon destroyed possibly damaging 0.59
R4033:Hsp90aa1 UTSW 12 110,662,115 (GRCm39) critical splice acceptor site probably null
R4815:Hsp90aa1 UTSW 12 110,661,660 (GRCm39) missense possibly damaging 0.45
R4932:Hsp90aa1 UTSW 12 110,660,151 (GRCm39) missense probably damaging 1.00
R5117:Hsp90aa1 UTSW 12 110,661,698 (GRCm39) missense possibly damaging 0.71
R5555:Hsp90aa1 UTSW 12 110,659,168 (GRCm39) missense probably damaging 1.00
R6382:Hsp90aa1 UTSW 12 110,661,951 (GRCm39) critical splice donor site probably null
R7024:Hsp90aa1 UTSW 12 110,660,546 (GRCm39) missense possibly damaging 0.46
R7324:Hsp90aa1 UTSW 12 110,661,659 (GRCm39) missense unknown
R7447:Hsp90aa1 UTSW 12 110,658,562 (GRCm39) missense possibly damaging 0.94
R7526:Hsp90aa1 UTSW 12 110,661,728 (GRCm39) missense unknown
R7732:Hsp90aa1 UTSW 12 110,659,852 (GRCm39) missense probably damaging 1.00
R8155:Hsp90aa1 UTSW 12 110,661,828 (GRCm39) missense unknown
R9004:Hsp90aa1 UTSW 12 110,659,045 (GRCm39) missense probably damaging 0.99
R9145:Hsp90aa1 UTSW 12 110,662,684 (GRCm39) critical splice donor site probably null
Z1177:Hsp90aa1 UTSW 12 110,659,900 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14