Incidental Mutation 'R3700:Hsp90ab1'
ID 269977
Institutional Source Beutler Lab
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
MMRRC Submission 040693-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3700 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 45878704-45884187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45882440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 85 (T85A)
Ref Sequence ENSEMBL: ENSMUSP00000024739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024739] [ENSMUST00000041353] [ENSMUST00000130406] [ENSMUST00000163966] [ENSMUST00000223987] [ENSMUST00000166469] [ENSMUST00000224905] [ENSMUST00000165127]
AlphaFold P11499
Predicted Effect possibly damaging
Transcript: ENSMUST00000024739
AA Change: T85A

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: T85A

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: 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: ENSMUST00000223987
Predicted Effect probably benign
Transcript: ENSMUST00000166469
SMART Domains Protein: ENSMUSP00000127338
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
Pfam:HSP90 4 189 1.3e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224559
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
Meta Mutation Damage Score 0.2989 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 98% (51/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 G A 18: 65,438,222 (GRCm39) T1524I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arhgap26 T A 18: 39,253,237 (GRCm39) F221L probably damaging Het
Arhgap28 T C 17: 68,208,361 (GRCm39) S36G probably damaging Het
Bcl11a A G 11: 24,113,890 (GRCm39) D411G probably damaging Het
Cdh23 C A 10: 60,163,149 (GRCm39) probably null Het
Cnnm2 T A 19: 46,750,990 (GRCm39) I260N probably damaging Het
Coro6 T C 11: 77,358,129 (GRCm39) F238S probably damaging Het
Ddah1 G A 3: 145,597,250 (GRCm39) M162I probably benign Het
Dnah5 T C 15: 28,387,937 (GRCm39) I3132T possibly damaging Het
Drgx A T 14: 32,350,818 (GRCm39) E218V probably damaging Het
Dync2i1 C T 12: 116,175,462 (GRCm39) W905* probably null Het
Eif3f A T 7: 108,539,482 (GRCm39) I251F probably benign Het
Ephx4 T C 5: 107,550,673 (GRCm39) F11L probably benign Het
Esp1 T C 17: 41,041,998 (GRCm39) S97P unknown Het
Fbxw10 A T 11: 62,759,983 (GRCm39) probably null Het
Idh2 T C 7: 79,748,895 (GRCm39) K129E probably damaging Het
Kcnj6 A G 16: 94,633,865 (GRCm39) I64T probably damaging Het
Klk1b5 T A 7: 43,500,251 (GRCm39) C280S probably damaging Het
Lhx2 T A 2: 38,250,111 (GRCm39) L269H probably damaging Het
Lrrc71 T A 3: 87,653,185 (GRCm39) probably null Het
Lss T A 10: 76,382,026 (GRCm39) L484Q probably damaging Het
Mmp14 G A 14: 54,669,389 (GRCm39) probably benign Het
Muc5b A G 7: 141,400,986 (GRCm39) T534A unknown Het
Mysm1 T C 4: 94,858,889 (GRCm39) K87E probably benign Het
Or6d13 T A 6: 116,517,489 (GRCm39) V25E probably benign Het
Or6f2 C G 7: 139,756,127 (GRCm39) F37L possibly damaging Het
Pcolce T C 5: 137,607,309 (GRCm39) T61A probably damaging Het
Phc3 C A 3: 30,968,277 (GRCm39) D920Y probably damaging Het
Pi4kb T C 3: 94,901,599 (GRCm39) I422T probably benign Het
Piezo1 C T 8: 123,221,642 (GRCm39) R584H probably damaging Het
Plce1 T A 19: 38,693,781 (GRCm39) F768Y probably damaging Het
Ppp1r21 T C 17: 88,889,882 (GRCm39) S709P possibly damaging Het
Prdx6 T C 1: 161,074,858 (GRCm39) D74G probably damaging Het
Rlf A G 4: 121,008,060 (GRCm39) F307L possibly damaging Het
Skic2 T C 17: 35,068,879 (GRCm39) E40G probably benign Het
Snapin G A 3: 90,397,499 (GRCm39) R91* probably null Het
Sort1 T A 3: 108,263,955 (GRCm39) L838* probably null Het
Sstr4 A G 2: 148,238,273 (GRCm39) I295V possibly damaging Het
Stk39 T A 2: 68,222,462 (GRCm39) I201F probably damaging Het
Tasp1 T C 2: 139,752,474 (GRCm39) T322A probably benign Het
Tepsin C T 11: 119,982,579 (GRCm39) C491Y possibly damaging Het
Tlr9 G A 9: 106,101,278 (GRCm39) V190M probably damaging Het
Ttf2 A G 3: 100,858,324 (GRCm39) L755P probably damaging Het
Txn2 G A 15: 77,811,976 (GRCm39) T60M possibly damaging Het
Vmn1r10 A G 6: 57,091,287 (GRCm39) N293S probably benign Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r111 C T 17: 22,790,142 (GRCm39) W288* probably null Het
Vmn2r118 T C 17: 55,915,421 (GRCm39) S510G possibly damaging Het
Zgpat T A 2: 181,007,439 (GRCm39) probably benign Het
Zzef1 G T 11: 72,777,598 (GRCm39) G1810C probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- GTCCTGACCAACCACTTGTAC -3'
(R):5'- AACAGTTCAGTTGATGTTGAAGGG -3'

Sequencing Primer
(F):5'- GGATGAAAGGCCACACAC -3'
(R):5'- CAGTTGATGTTGAAGGGGGAGG -3'
Posted On 2015-03-18