Incidental Mutation 'R4968:Hsp90ab1'
ID 384228
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 042564-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4968 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 45878704-45884187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45881962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 166 (T166A)
Ref Sequence ENSEMBL: ENSMUSP00000024739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024739] [ENSMUST00000041353] [ENSMUST00000130406] [ENSMUST00000165127] [ENSMUST00000166469] [ENSMUST00000224905] [ENSMUST00000163966] [ENSMUST00000223987] [ENSMUST00000226086]
AlphaFold P11499
Predicted Effect probably benign
Transcript: ENSMUST00000024739
AA Change: T166A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: T166A

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 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: 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: ENSMUST00000226086
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A T 11: 58,769,616 (GRCm39) K53* probably null Het
4921513D11Rik T C 17: 79,935,651 (GRCm39) S255P probably benign Het
Ace A G 11: 105,872,679 (GRCm39) N367S possibly damaging Het
Agl A T 3: 116,582,175 (GRCm39) N282K probably benign Het
Ahnak C A 19: 8,992,464 (GRCm39) P4583T probably damaging Het
Alpi T C 1: 87,029,247 (GRCm39) D4G probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Aplnr T C 2: 84,967,289 (GRCm39) Y105H probably damaging Het
Arhgap9 G A 10: 127,162,875 (GRCm39) R395K possibly damaging Het
Asah1 A G 8: 41,807,067 (GRCm39) M119T Het
Atp5f1b T C 10: 127,919,856 (GRCm39) F75L probably damaging Het
B4galt6 G T 18: 20,861,026 (GRCm39) N75K possibly damaging Het
Bco1 A T 8: 117,857,833 (GRCm39) H486L probably benign Het
Btaf1 T A 19: 36,947,351 (GRCm39) L480Q probably null Het
Ccdc34 G T 2: 109,871,078 (GRCm39) probably null Het
Cdh19 T C 1: 110,852,958 (GRCm39) S326G probably benign Het
Cep89 A G 7: 35,109,055 (GRCm39) D178G possibly damaging Het
Cyp11b2 A T 15: 74,725,854 (GRCm39) probably null Het
Cyp21a1 A G 17: 35,022,383 (GRCm39) I157T possibly damaging Het
Dcbld2 A G 16: 58,245,074 (GRCm39) D116G probably damaging Het
Ddx5 T C 11: 106,674,953 (GRCm39) Q377R probably damaging Het
Deup1 T C 9: 15,503,724 (GRCm39) D279G probably damaging Het
F11 G A 8: 45,698,770 (GRCm39) A458V probably benign Het
Fhad1 C A 4: 141,645,618 (GRCm39) G326W probably damaging Het
Fhit C T 14: 10,421,522 (GRCm38) V26M probably damaging Het
Gjb5 A T 4: 127,250,015 (GRCm39) V43E probably damaging Het
Grtp1 A T 8: 13,242,184 (GRCm39) I75N probably damaging Het
Hmcn1 A G 1: 150,533,221 (GRCm39) I3022T possibly damaging Het
Ift70b T C 2: 75,768,391 (GRCm39) I121V probably benign Het
Iho1 C T 9: 108,289,713 (GRCm39) V170M probably benign Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Kcnk10 T C 12: 98,401,161 (GRCm39) I491V probably benign Het
Kcp A T 6: 29,497,628 (GRCm39) C519* probably null Het
Lcmt2 T C 2: 120,970,217 (GRCm39) T69A probably benign Het
Lmf1 A G 17: 25,804,592 (GRCm39) Y90C probably damaging Het
Lpp A G 16: 24,798,064 (GRCm39) D612G probably damaging Het
Lrfn5 C A 12: 61,886,461 (GRCm39) S83Y probably damaging Het
Lrp1b T C 2: 40,592,719 (GRCm39) probably null Het
Lrp1b C T 2: 41,679,074 (GRCm39) C6Y probably damaging Het
Lrrc8c A G 5: 105,754,993 (GRCm39) D256G probably damaging Het
Mphosph10 A G 7: 64,032,656 (GRCm39) Y478H probably damaging Het
Mpp2 T C 11: 101,955,124 (GRCm39) H167R probably benign Het
Mtss1 A G 15: 58,815,767 (GRCm39) S598P probably damaging Het
Myh10 A G 11: 68,684,049 (GRCm39) E1154G probably damaging Het
Myo10 T C 15: 25,808,270 (GRCm39) V1218A probably damaging Het
Myo19 A G 11: 84,792,328 (GRCm39) K599R probably damaging Het
Neurl4 T C 11: 69,798,134 (GRCm39) M771T probably damaging Het
Nlrc4 A G 17: 74,753,936 (GRCm39) V149A probably benign Het
Nup133 A T 8: 124,641,935 (GRCm39) S843T probably benign Het
Or2y1c T C 11: 49,361,358 (GRCm39) C127R probably damaging Het
Or51k1 T C 7: 103,661,777 (GRCm39) N44S probably damaging Het
P3h2 A G 16: 25,811,412 (GRCm39) probably null Het
Piezo2 A T 18: 63,278,042 (GRCm39) Y287* probably null Het
Prob1 T C 18: 35,785,605 (GRCm39) Y883C probably damaging Het
Pxdn T A 12: 30,050,011 (GRCm39) H506Q probably benign Het
Ripor3 T C 2: 167,827,037 (GRCm39) D658G probably benign Het
Rufy1 T A 11: 50,301,434 (GRCm39) I333L probably benign Het
Selenok T A 14: 29,692,064 (GRCm39) V34E probably benign Het
Selplg T C 5: 113,957,787 (GRCm39) E173G possibly damaging Het
Septin10 A G 10: 59,016,943 (GRCm39) F194L probably damaging Het
Sptbn2 A T 19: 4,779,230 (GRCm39) probably null Het
St6galnac6 C T 2: 32,498,098 (GRCm39) P6S probably benign Het
Syngr2 T C 11: 117,704,296 (GRCm39) Y194H probably damaging Het
Thbs4 A G 13: 92,894,576 (GRCm39) I649T possibly damaging Het
Triobp T A 15: 78,850,816 (GRCm39) N323K probably benign Het
Tuba8 T A 6: 121,197,548 (GRCm39) L70Q probably damaging Het
Vmn2r61 A G 7: 41,949,478 (GRCm39) T633A probably benign Het
Zfp280b G T 10: 75,875,188 (GRCm39) V356L probably damaging Het
Zswim4 A T 8: 84,944,001 (GRCm39) V746D 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
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
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'- TCCTGGTTTCTCAAGCAAGC -3'
(R):5'- ACATTGAACTGATTGTTACCTTGCG -3'

Sequencing Primer
(F):5'- GCAAGCTAAGATTCCTGTGTAGCC -3'
(R):5'- TTGGCCAAGAACCATGTTGC -3'
Posted On 2016-04-27