Incidental Mutation 'IGL00780:Hsp90ab1'
ID 11368
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 # IGL00780
Quality Score
Status
Chromosome 17
Chromosomal Location 45878704-45884187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45880490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 407 (N407S)
Ref Sequence ENSEMBL: ENSMUSP00000024739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024739] [ENSMUST00000041353] [ENSMUST00000130406] [ENSMUST00000165127] [ENSMUST00000224905] [ENSMUST00000166469] [ENSMUST00000223987] [ENSMUST00000163966] [ENSMUST00000226086]
AlphaFold P11499
Predicted Effect probably damaging
Transcript: ENSMUST00000024739
AA Change: N407S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: N407S

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: 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: ENSMUST00000224905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225226
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: ENSMUST00000223987
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 probably benign
Transcript: ENSMUST00000226086
Predicted Effect probably benign
Transcript: ENSMUST00000224341
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,423,168 (GRCm39) D440G probably null Het
Acvrl1 T A 15: 101,035,248 (GRCm39) F258Y probably damaging Het
Ano1 A G 7: 144,209,367 (GRCm39) S278P probably damaging Het
Aoc1l3 A G 6: 48,964,673 (GRCm39) D227G probably damaging Het
AW146154 T C 7: 41,129,883 (GRCm39) Y411C probably damaging Het
Blnk T A 19: 40,922,890 (GRCm39) K412M probably benign Het
Clpb C T 7: 101,427,815 (GRCm39) R387* probably null Het
Dach1 A T 14: 98,138,858 (GRCm39) N528K possibly damaging Het
Dag1 A T 9: 108,086,818 (GRCm39) W108R probably damaging Het
Elapor2 A G 5: 9,472,367 (GRCm39) T355A probably damaging Het
Fbn2 T C 18: 58,229,060 (GRCm39) T717A probably damaging Het
Fnbp1l T C 3: 122,342,898 (GRCm39) D394G possibly damaging Het
Gaa T A 11: 119,165,117 (GRCm39) probably null Het
Gpr158 A T 2: 21,831,629 (GRCm39) K910* probably null Het
Grb14 G A 2: 64,745,062 (GRCm39) P99S probably damaging Het
Gtf2h2 T C 13: 100,615,729 (GRCm39) D264G probably benign Het
Heatr3 A G 8: 88,897,568 (GRCm39) I667V probably benign Het
Htr2a A T 14: 74,943,645 (GRCm39) L408F possibly damaging Het
Itgb5 G A 16: 33,705,345 (GRCm39) V212I probably damaging Het
Kmt2c G A 5: 25,516,049 (GRCm39) T2598I probably benign Het
Lcorl T C 5: 45,904,637 (GRCm39) N137S probably damaging Het
Lef1 T C 3: 130,986,779 (GRCm39) F212L possibly damaging Het
Map2k5 T C 9: 63,188,359 (GRCm39) probably benign Het
Med15 G A 16: 17,471,351 (GRCm39) T642I probably damaging Het
Nasp C A 4: 116,461,196 (GRCm39) E274* probably null Het
Nup210l A T 3: 90,098,156 (GRCm39) probably benign Het
Pgghg T C 7: 140,525,264 (GRCm39) probably null Het
Plpp1 A G 13: 112,988,040 (GRCm39) I54M probably damaging Het
Poldip3 C T 15: 83,022,680 (GRCm39) G35R probably damaging Het
Ppig A T 2: 69,563,268 (GRCm39) E81D possibly damaging Het
Ptpn21 G T 12: 98,646,630 (GRCm39) T999K probably damaging Het
Rad9b T C 5: 122,482,310 (GRCm39) I142V probably benign Het
Ralgps1 A T 2: 33,163,639 (GRCm39) H139Q probably damaging Het
Rdh16f2 T C 10: 127,710,961 (GRCm39) probably null Het
Sema3d G A 5: 12,574,293 (GRCm39) R265Q probably damaging Het
Tdp1 T C 12: 99,859,907 (GRCm39) V198A possibly damaging Het
Trim43c A T 9: 88,723,909 (GRCm39) D145V probably benign Het
Trpc4 C T 3: 54,209,596 (GRCm39) P654S probably damaging Het
Yy1 T G 12: 108,781,463 (GRCm39) I376S probably damaging Het
Zfp773 T A 7: 7,136,113 (GRCm39) Q161L probably benign Het
Other mutations in Hsp90ab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02234:Hsp90ab1 APN 17 45,880,661 (GRCm39) missense probably benign 0.01
IGL02275:Hsp90ab1 APN 17 45,879,364 (GRCm39) missense possibly damaging 0.76
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 2012-12-06