Incidental Mutation 'IGL02275:Hsp90ab1'
ID 287317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsp90ab1
Ensembl Gene ENSMUSG00000023944
Gene Name heat shock protein 90 alpha (cytosolic), class B member 1
Synonyms Hsp90, Hsp84-1, C81438, Hsp84, Hspcb
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02275
Quality Score
Status
Chromosome 17
Chromosomal Location 45878704-45884187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45879364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 619 (Y619C)
Ref Sequence ENSEMBL: ENSMUSP00000024739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024739] [ENSMUST00000041353] [ENSMUST00000130406] [ENSMUST00000226086] [ENSMUST00000166469] [ENSMUST00000163966] [ENSMUST00000224905] [ENSMUST00000165127] [ENSMUST00000223987]
AlphaFold P11499
Predicted Effect possibly damaging
Transcript: ENSMUST00000024739
AA Change: Y619C

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: Y619C

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
HATPase_c 35 189 3.82e-10 SMART
Pfam:HSP90 191 719 5.4e-246 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041353
SMART Domains Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089

DomainStartEndE-ValueType
Pfam:UAA 62 363 5.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130406
SMART Domains Protein: ENSMUSP00000119678
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
SCOP:d1byqa_ 9 76 2e-32 SMART
PDB:1UYM|A 14 76 7e-38 PDB
Blast:HATPase_c 35 76 3e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151306
Predicted Effect probably benign
Transcript: ENSMUST00000226086
Predicted Effect probably benign
Transcript: ENSMUST00000166469
SMART Domains Protein: ENSMUSP00000127338
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
Pfam:HSP90 4 189 1.3e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163966
SMART Domains Protein: ENSMUSP00000131601
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
SCOP:d1byqa_ 9 85 9e-40 SMART
PDB:1UYM|A 14 85 3e-45 PDB
Blast:HATPase_c 35 85 9e-29 BLAST
low complexity region 93 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225226
Predicted Effect probably benign
Transcript: ENSMUST00000224341
Predicted Effect probably benign
Transcript: ENSMUST00000224905
Predicted Effect probably benign
Transcript: ENSMUST00000165127
SMART Domains Protein: ENSMUSP00000126239
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:HSP90 37 161 3.8e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224559
Predicted Effect probably benign
Transcript: ENSMUST00000223987
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the heat shock protein 90 family; these proteins are involved in signal transduction, protein folding and degradation and morphological evolution. This gene encodes the constitutive form of the cytosolic 90 kDa heat-shock protein and is thought to play a role in gastric apoptosis and inflammation. Alternative splicing results in multiple transcript variants. Pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a gene-trapped null mutation exhibit placental defects including failure to form a placental labyrinth and lack of expansion of allantoic blood vessels. Mutants die around mid-gestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T A 16: 3,724,146 (GRCm39) D130V probably damaging Het
4930596D02Rik T C 14: 35,533,880 (GRCm39) T9A probably benign Het
Anapc1 C A 2: 128,501,772 (GRCm39) A757S probably benign Het
Bpifa6 A T 2: 153,834,192 (GRCm39) D328V probably benign Het
Cdh19 T A 1: 110,853,616 (GRCm39) K275I probably benign Het
Col18a1 A G 10: 76,895,217 (GRCm39) I1148T possibly damaging Het
Commd1 A T 11: 22,850,017 (GRCm39) V222D probably damaging Het
Crim1 T A 17: 78,677,427 (GRCm39) M876K possibly damaging Het
Dennd1b C A 1: 139,008,992 (GRCm39) H232N probably damaging Het
Dhx57 T C 17: 80,582,268 (GRCm39) T393A probably benign Het
Dnai7 T C 6: 145,123,090 (GRCm39) Y592C probably damaging Het
Gabrb2 G T 11: 42,482,721 (GRCm39) R193L probably benign Het
Gm5828 T A 1: 16,839,342 (GRCm39) noncoding transcript Het
Gm6483 C T 8: 19,741,629 (GRCm39) P55S probably damaging Het
Kctd19 A G 8: 106,123,006 (GRCm39) I136T probably damaging Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or2w6 A C 13: 21,843,170 (GRCm39) F108V probably benign Het
Sel1l T C 12: 91,781,789 (GRCm39) Y532C probably damaging Het
Sirpb1a A G 3: 15,475,469 (GRCm39) probably null Het
Ush2a C T 1: 187,995,466 (GRCm39) T79M possibly damaging Het
Usp24 T C 4: 106,244,690 (GRCm39) V1215A probably damaging Het
Vdac3-ps1 T C 13: 18,205,379 (GRCm39) noncoding transcript Het
Vmn2r75 T C 7: 85,814,348 (GRCm39) T382A probably benign Het
Vps53 T C 11: 75,937,949 (GRCm39) Y728C probably benign Het
Other mutations in Hsp90ab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Hsp90ab1 APN 17 45,880,490 (GRCm39) missense probably damaging 0.96
IGL02234:Hsp90ab1 APN 17 45,880,661 (GRCm39) missense probably benign 0.01
IGL03069:Hsp90ab1 APN 17 45,879,954 (GRCm39) missense possibly damaging 0.65
IGL03104:Hsp90ab1 APN 17 45,882,449 (GRCm39) missense probably damaging 0.99
R0457:Hsp90ab1 UTSW 17 45,879,914 (GRCm39) missense probably damaging 1.00
R0787:Hsp90ab1 UTSW 17 45,880,425 (GRCm39) unclassified probably benign
R0788:Hsp90ab1 UTSW 17 45,880,425 (GRCm39) unclassified probably benign
R0790:Hsp90ab1 UTSW 17 45,880,425 (GRCm39) unclassified probably benign
R1142:Hsp90ab1 UTSW 17 45,879,900 (GRCm39) nonsense probably null
R1738:Hsp90ab1 UTSW 17 45,882,732 (GRCm39) missense probably damaging 1.00
R2109:Hsp90ab1 UTSW 17 45,880,254 (GRCm39) missense probably benign 0.32
R2156:Hsp90ab1 UTSW 17 45,880,629 (GRCm39) missense possibly damaging 0.82
R2509:Hsp90ab1 UTSW 17 45,880,267 (GRCm39) missense probably damaging 1.00
R3686:Hsp90ab1 UTSW 17 45,880,214 (GRCm39) missense probably damaging 1.00
R3695:Hsp90ab1 UTSW 17 45,882,403 (GRCm39) missense probably damaging 0.98
R3700:Hsp90ab1 UTSW 17 45,882,440 (GRCm39) missense possibly damaging 0.69
R4968:Hsp90ab1 UTSW 17 45,881,962 (GRCm39) missense probably benign 0.05
R5809:Hsp90ab1 UTSW 17 45,881,575 (GRCm39) unclassified probably benign
R6833:Hsp90ab1 UTSW 17 45,881,393 (GRCm39) missense probably benign
R6834:Hsp90ab1 UTSW 17 45,881,393 (GRCm39) missense probably benign
R7392:Hsp90ab1 UTSW 17 45,879,974 (GRCm39) missense probably benign 0.10
R7400:Hsp90ab1 UTSW 17 45,880,210 (GRCm39) missense probably benign 0.04
R7584:Hsp90ab1 UTSW 17 45,881,197 (GRCm39) missense probably damaging 1.00
R7834:Hsp90ab1 UTSW 17 45,882,091 (GRCm39) missense possibly damaging 0.85
R7851:Hsp90ab1 UTSW 17 45,881,378 (GRCm39) missense probably benign 0.17
R7977:Hsp90ab1 UTSW 17 45,882,532 (GRCm39) missense probably damaging 1.00
R7987:Hsp90ab1 UTSW 17 45,882,532 (GRCm39) missense probably damaging 1.00
R8115:Hsp90ab1 UTSW 17 45,880,201 (GRCm39) missense possibly damaging 0.64
R8525:Hsp90ab1 UTSW 17 45,880,726 (GRCm39) missense probably benign 0.09
R9046:Hsp90ab1 UTSW 17 45,879,969 (GRCm39) missense probably damaging 1.00
R9378:Hsp90ab1 UTSW 17 45,881,680 (GRCm39) missense probably damaging 1.00
R9569:Hsp90ab1 UTSW 17 45,879,878 (GRCm39) missense possibly damaging 0.94
R9610:Hsp90ab1 UTSW 17 45,880,600 (GRCm39) missense possibly damaging 0.83
R9611:Hsp90ab1 UTSW 17 45,880,600 (GRCm39) missense possibly damaging 0.83
Posted On 2015-04-16