Incidental Mutation 'R4932:Hsp90aa1'
ID 380665
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 # R4932 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 110657470-110662829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110660151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 382 (Y382N)
Ref Sequence ENSEMBL: ENSMUSP00000091921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021698] [ENSMUST00000094361] [ENSMUST00000124156] [ENSMUST00000149189] [ENSMUST00000155242]
AlphaFold P07901
Predicted Effect probably damaging
Transcript: ENSMUST00000021698
AA Change: Y382N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
AA Change: Y382N

DomainStartEndE-ValueType
HATPase_c 40 194 2.94e-11 SMART
Pfam:HSP90 196 733 6.7e-272 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000094361
AA Change: Y382N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
AA Change: Y382N

DomainStartEndE-ValueType
HATPase_c 40 194 2.94e-11 SMART
Pfam:HSP90 196 728 2e-245 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124156
SMART Domains Protein: ENSMUSP00000121138
Gene: ENSMUSG00000021270

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
SMART Domains Protein: ENSMUSP00000114201
Gene: ENSMUSG00000021270

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
SMART Domains Protein: ENSMUSP00000118189
Gene: ENSMUSG00000021270

DomainStartEndE-ValueType
HATPase_c 40 194 2.94e-11 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A T 17: 36,270,342 (GRCm39) V616E possibly damaging Het
Adam21 A G 12: 81,605,692 (GRCm39) V690A probably benign Het
Afg3l1 A T 8: 124,228,119 (GRCm39) T635S probably damaging Het
Ahcyl2 T A 6: 29,890,700 (GRCm39) M390K probably benign Het
Ank3 T A 10: 69,734,053 (GRCm39) probably null Het
Antkmt T G 17: 26,010,652 (GRCm39) probably null Het
Arhgef3 A T 14: 27,106,170 (GRCm39) K151N probably damaging Het
Ccr3 T G 9: 123,829,043 (GRCm39) F126C probably damaging Het
Ccser1 A G 6: 61,695,175 (GRCm39) D170G possibly damaging Het
Celsr2 T A 3: 108,310,074 (GRCm39) D1552V probably damaging Het
Cfap69 G A 5: 5,675,820 (GRCm39) L265F probably damaging Het
Chrna9 C T 5: 66,126,533 (GRCm39) R92* probably null Het
Cog3 A T 14: 75,970,394 (GRCm39) V341D probably damaging Het
Csmd1 C A 8: 16,073,779 (GRCm39) R2072L probably damaging Het
Dbf4 G T 5: 8,448,039 (GRCm39) H390Q probably benign Het
Dcaf4 T A 12: 83,579,078 (GRCm39) C166S possibly damaging Het
Dclk3 T A 9: 111,297,110 (GRCm39) L218Q possibly damaging Het
Dip2b T A 15: 100,069,603 (GRCm39) W643R probably damaging Het
Dip2c A G 13: 9,674,008 (GRCm39) K1091E probably damaging Het
Dis3 T A 14: 99,326,340 (GRCm39) H415L probably damaging Het
Dnah7a T A 1: 53,542,737 (GRCm39) I2478F possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Doc2a T C 7: 126,447,752 (GRCm39) probably benign Het
Dph5 A T 3: 115,693,456 (GRCm39) M125L probably benign Het
Dst A T 1: 34,267,764 (GRCm39) T5247S possibly damaging Het
Eno4 T G 19: 58,952,889 (GRCm39) V477G possibly damaging Het
Exosc8 T C 3: 54,636,711 (GRCm39) I207V possibly damaging Het
Fat4 T A 3: 39,061,352 (GRCm39) S4312T probably benign Het
Fgfr2 T C 7: 129,843,007 (GRCm39) D126G probably damaging Het
Fgfr4 A G 13: 55,315,983 (GRCm39) T799A unknown Het
Gcn1 A T 5: 115,730,203 (GRCm39) D839V probably benign Het
Gprin3 A G 6: 59,331,158 (GRCm39) V383A probably benign Het
Gpt T C 15: 76,583,040 (GRCm39) V361A probably benign Het
Hepacam G A 9: 37,293,060 (GRCm39) C217Y probably damaging Het
Htr2a T A 14: 74,879,462 (GRCm39) N30K probably benign Het
Jhy A T 9: 40,872,299 (GRCm39) M70K possibly damaging Het
Lrrc19 T C 4: 94,529,174 (GRCm39) Y36C probably damaging Het
Madcam1 C T 10: 79,501,447 (GRCm39) Q171* probably null Het
Mcm8 G A 2: 132,680,629 (GRCm39) M544I probably benign Het
Mdga1 C T 17: 30,076,580 (GRCm39) G64E probably damaging Het
Mmp3 A G 9: 7,446,994 (GRCm39) D58G probably benign Het
Ms4a10 T C 19: 10,942,132 (GRCm39) Y123C probably damaging Het
Ms4a4d T A 19: 11,535,296 (GRCm39) I198K probably benign Het
Mthfd1l A T 10: 3,930,241 (GRCm39) D112V probably benign Het
N4bp2l2 A C 5: 150,566,606 (GRCm39) S567R probably benign Het
Ndufaf2 A G 13: 108,295,010 (GRCm39) Y32H probably damaging Het
Nup153 T A 13: 46,866,213 (GRCm39) K182* probably null Het
Or4c100 A G 2: 88,356,079 (GRCm39) T51A probably benign Het
Or52p2 A G 7: 102,237,623 (GRCm39) F109S probably damaging Het
Or5p4 T A 7: 107,680,781 (GRCm39) V260E probably damaging Het
Otoa T C 7: 120,754,358 (GRCm39) S928P probably damaging Het
Oxct2a T C 4: 123,216,496 (GRCm39) D295G probably benign Het
P4ha2 C A 11: 54,015,846 (GRCm39) T411K probably benign Het
Plcg2 A T 8: 118,333,822 (GRCm39) Q865L probably benign Het
Prepl G T 17: 85,385,932 (GRCm39) T244K possibly damaging Het
Ptpro A T 6: 137,388,103 (GRCm39) K776* probably null Het
Rc3h2 T C 2: 37,279,844 (GRCm39) K462E possibly damaging Het
Scn10a A G 9: 119,516,940 (GRCm39) probably null Het
Serpinb1c A G 13: 33,066,147 (GRCm39) V266A probably damaging Het
Slc6a20b T A 9: 123,433,861 (GRCm39) N326Y probably damaging Het
Spcs2 C T 7: 99,508,038 (GRCm39) G16D possibly damaging Het
Spns3 T C 11: 72,390,321 (GRCm39) D441G possibly damaging Het
Srsf4 A G 4: 131,618,556 (GRCm39) D49G probably damaging Het
Tec A T 5: 72,917,736 (GRCm39) C494* probably null Het
Tecpr1 A T 5: 144,141,476 (GRCm39) Y798N probably damaging Het
Tex56 A T 13: 35,116,613 (GRCm39) T121S possibly damaging Het
Tmt1a T A 15: 100,202,987 (GRCm39) F87Y probably benign Het
Trim56 C T 5: 137,143,343 (GRCm39) E58K probably damaging Het
Ttn A T 2: 76,626,478 (GRCm39) D13146E probably damaging Het
Ube2q1 A T 3: 89,686,790 (GRCm39) K46* probably null Het
Ucn G T 5: 31,295,842 (GRCm39) T8K probably benign Het
Usp25 T C 16: 76,830,870 (GRCm39) probably null Het
Usp48 A T 4: 137,343,144 (GRCm39) Q430L probably benign Het
Usp48 A T 4: 137,343,145 (GRCm39) probably null Het
Vill A T 9: 118,890,579 (GRCm39) D164V probably damaging Het
Vmn2r91 T A 17: 18,356,751 (GRCm39) M806K possibly damaging Het
Wdfy4 T A 14: 32,750,970 (GRCm39) Y2256F probably damaging Het
Wsb1 A G 11: 79,141,826 (GRCm39) S64P probably damaging Het
Zc3h11a C A 1: 133,552,350 (GRCm39) V586F probably benign Het
Zc3h12d A G 10: 7,729,014 (GRCm39) D126G probably damaging Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp442 T A 2: 150,251,635 (GRCm39) H89L possibly damaging Het
Zfp82 T A 7: 29,756,312 (GRCm39) probably null Het
Zmynd8 A G 2: 165,676,871 (GRCm39) V249A possibly damaging 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
R3615:Hsp90aa1 UTSW 12 110,662,114 (GRCm39) start codon destroyed possibly damaging 0.59
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
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 PCR Primer
(F):5'- ACCCCTCTAATGAAATCTGGGG -3'
(R):5'- TGTCCATGGCATTAAAAGGTTG -3'

Sequencing Primer
(F):5'- CTGAAACCTAAGGAATCTTTTTGGC -3'
(R):5'- AAGGTTGTTTCATTTTATTGCAGC -3'
Posted On 2016-04-15