Incidental Mutation 'R3177:Hsp90aa1'
ID 476065
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
MMRRC Submission 040615-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3177 (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: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 100% (21/21)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,020 (GRCm39) R553G possibly damaging Het
Adarb2 A G 13: 8,802,663 (GRCm39) N646S probably damaging Het
Adcy8 C T 15: 64,571,008 (GRCm39) G1242S probably benign Het
Ano9 T A 7: 140,684,037 (GRCm39) T543S probably damaging Het
Btnl10 A G 11: 58,813,216 (GRCm39) K282E probably benign Het
Btnl9 T C 11: 49,060,503 (GRCm39) D330G probably damaging Het
Ccdc178 G T 18: 22,200,709 (GRCm39) A416E possibly damaging Het
Cdx2 A T 5: 147,240,002 (GRCm39) S225T probably benign Het
Clca4b T C 3: 144,617,120 (GRCm39) I843M probably benign Het
Cntn4 G A 6: 106,414,925 (GRCm39) probably null Het
Cyb561 T C 11: 105,826,613 (GRCm39) probably benign Het
Cyp4f18 T C 8: 72,747,044 (GRCm39) D317G possibly damaging Het
Dennd4a G T 9: 64,796,275 (GRCm39) R767L probably damaging Het
Dgkb G A 12: 38,134,216 (GRCm39) V41M probably damaging Het
Duox1 T C 2: 122,170,597 (GRCm39) Y1206H probably damaging Het
Dync1i1 T C 6: 5,972,211 (GRCm39) probably null Het
Fbxw2 T C 2: 34,712,762 (GRCm39) T100A probably benign Het
Fcgbp C A 7: 27,791,086 (GRCm39) H782Q probably damaging Het
Flg2 A T 3: 93,122,195 (GRCm39) Q1455L unknown Het
Frrs1 T C 3: 116,692,873 (GRCm39) F49S probably damaging Het
Gli3 A T 13: 15,900,567 (GRCm39) Q1318L probably benign Het
Gm5581 C G 6: 131,143,928 (GRCm39) noncoding transcript Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gm7104 A T 12: 88,252,498 (GRCm39) noncoding transcript Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hacd4 T C 4: 88,355,747 (GRCm39) H46R probably damaging Het
Hao2 T C 3: 98,787,644 (GRCm39) probably benign Het
Herc2 T C 7: 55,803,176 (GRCm39) V2175A probably benign Het
Hey1 T C 3: 8,729,951 (GRCm39) S169G probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hlf T C 11: 90,236,661 (GRCm39) K199E probably damaging Het
Hpgd C A 8: 56,751,448 (GRCm39) A92E probably damaging Het
Itgad C A 7: 127,790,153 (GRCm39) H651N possibly damaging Het
Itgav A G 2: 83,606,886 (GRCm39) D409G probably damaging Het
Kif2a A G 13: 107,113,264 (GRCm39) I455T probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamc3 G T 2: 31,798,637 (GRCm39) G448C probably damaging Het
Ltbp1 G A 17: 75,583,475 (GRCm39) G425D possibly damaging Het
Ltbp1 T A 17: 75,666,273 (GRCm39) probably null Het
Mag C T 7: 30,601,073 (GRCm39) probably null Het
Mdh1b G A 1: 63,750,690 (GRCm39) T426M possibly damaging Het
Nr1h4 G A 10: 89,314,650 (GRCm39) T282I possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or4c1 C T 2: 89,133,562 (GRCm39) V125M possibly damaging Het
Or52k2 T C 7: 102,253,783 (GRCm39) V74A possibly damaging Het
Or9s27 A G 1: 92,516,535 (GRCm39) N161S probably benign Het
Padi6 A G 4: 140,462,700 (GRCm39) L307P probably damaging Het
Parp9 T C 16: 35,768,578 (GRCm39) S20P probably damaging Het
Pdcd11 T C 19: 47,101,703 (GRCm39) F963L probably damaging Het
Pwp1 C T 10: 85,717,943 (GRCm39) L294F probably benign Het
Radil A G 5: 142,492,611 (GRCm39) L339P probably damaging Het
Raver1 G A 9: 20,990,573 (GRCm39) P316S possibly damaging Het
Rell1 A G 5: 64,084,330 (GRCm39) probably null Het
Rxrg A G 1: 167,463,269 (GRCm39) D257G possibly damaging Het
Sema4c C T 1: 36,588,960 (GRCm39) R722H possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Spata7 A G 12: 98,603,857 (GRCm39) N75D possibly damaging Het
Ttc23l A G 15: 10,547,318 (GRCm39) F99L possibly damaging Het
Unc13a A C 8: 72,082,339 (GRCm39) C1642G probably benign Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Wrn A G 8: 33,807,582 (GRCm39) M292T probably damaging Het
Zfp423 A G 8: 88,508,959 (GRCm39) Y462H probably damaging Het
Zscan5b T A 7: 6,234,345 (GRCm39) Y124N possibly damaging Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A 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
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
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 2017-05-11