Incidental Mutation 'IGL03104:Hsp90ab1'
ID 418872
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 Hspcb, Hsp84, Hsp90, C81438, Hsp84-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03104
Quality Score
Status
Chromosome 17
Chromosomal Location 45567775-45573271 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45571523 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 82 (R82C)
Ref Sequence ENSEMBL: ENSMUSP00000024739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024739] [ENSMUST00000041353] [ENSMUST00000130406] [ENSMUST00000163966] [ENSMUST00000165127] [ENSMUST00000166469] [ENSMUST00000223987] [ENSMUST00000224905]
AlphaFold P11499
Predicted Effect probably damaging
Transcript: ENSMUST00000024739
AA Change: R82C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: R82C

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
AA Change: R82C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000131601
Gene: ENSMUSG00000023944
AA Change: R82C

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: 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 probably benign
Transcript: ENSMUST00000223987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224559
Predicted Effect probably benign
Transcript: ENSMUST00000224905
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 C A 1: 58,282,759 T70K probably benign Het
Armt1 T A 10: 4,439,615 Y91N possibly damaging Het
Atp1a2 A G 1: 172,293,367 L46S probably damaging Het
Baz1a A G 12: 54,894,958 S1488P probably damaging Het
Coro7 T A 16: 4,629,126 E793V probably damaging Het
Ctnnbl1 G T 2: 157,890,965 R555L probably damaging Het
Dclk2 A G 3: 86,836,359 C268R probably damaging Het
Dock7 A T 4: 98,959,023 M1684K possibly damaging Het
Dock8 T A 19: 25,201,020 C2092* probably null Het
Dtx1 T A 5: 120,694,965 Q136L possibly damaging Het
Egln3 C T 12: 54,203,195 probably benign Het
Eml5 A T 12: 98,861,245 Y575* probably null Het
Entpd5 A T 12: 84,384,248 V310E probably damaging Het
Fkbp5 A G 17: 28,415,972 F188L probably damaging Het
Frrs1 T C 3: 116,881,782 S120P probably benign Het
Gadl1 T C 9: 116,074,040 I479T possibly damaging Het
Gfra2 A T 14: 70,968,285 M106L probably benign Het
Gm17455 T A 10: 60,403,281 C108* probably null Het
Gm9733 G T 3: 15,332,223 probably benign Het
Grhpr A G 4: 44,983,867 probably benign Het
Igsf10 T C 3: 59,319,484 Y2256C probably damaging Het
Ivd A T 2: 118,872,903 I160F probably benign Het
Krtap5-5 A G 7: 142,229,713 C67R unknown Het
Lhx4 A T 1: 155,705,221 V186E probably damaging Het
Lrrk2 T C 15: 91,747,755 I1294T possibly damaging Het
Map3k5 C T 10: 20,132,055 S1202L probably benign Het
Mdfic T A 6: 15,770,320 N108K probably damaging Het
Mov10 G A 3: 104,797,307 R763W probably damaging Het
Mto1 T C 9: 78,449,520 S106P probably damaging Het
Naca C T 10: 128,040,364 probably benign Het
Olfr1408 A G 1: 173,130,959 V86A probably benign Het
Olfr282 A G 15: 98,438,246 Y259C possibly damaging Het
Pan2 T C 10: 128,315,663 probably benign Het
Pold1 T C 7: 44,540,580 Y394C probably damaging Het
Sipa1l1 T A 12: 82,342,130 S377T probably benign Het
Slc36a3 A G 11: 55,125,120 S403P probably damaging Het
Slc4a4 A G 5: 89,149,372 T480A probably damaging Het
Slu7 G A 11: 43,442,056 V315I probably benign Het
St6galnac3 T C 3: 153,205,478 E282G probably damaging Het
Tlr12 A G 4: 128,615,892 V855A probably benign Het
Vmn1r53 T A 6: 90,223,962 K127* probably null Het
Vmn1r72 T G 7: 11,669,885 H212P probably damaging Het
Vmn2r86 T A 10: 130,446,632 Q705L probably damaging Het
Vps33b C T 7: 80,276,083 R93C probably damaging Het
Wdr91 T A 6: 34,905,556 E219D probably benign Het
Zan G A 5: 137,463,500 T1139I unknown Het
Zc3hav1 T A 6: 38,340,343 K107N probably damaging Het
Zcchc6 T C 13: 59,814,903 D350G probably benign Het
Zmym2 A G 14: 56,950,327 E1150G possibly damaging Het
Other mutations in Hsp90ab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Hsp90ab1 APN 17 45569564 missense probably damaging 0.96
IGL02234:Hsp90ab1 APN 17 45569735 missense probably benign 0.01
IGL02275:Hsp90ab1 APN 17 45568438 missense possibly damaging 0.76
IGL03069:Hsp90ab1 APN 17 45569028 missense possibly damaging 0.65
R0457:Hsp90ab1 UTSW 17 45568988 missense probably damaging 1.00
R0787:Hsp90ab1 UTSW 17 45569499 unclassified probably benign
R0788:Hsp90ab1 UTSW 17 45569499 unclassified probably benign
R0790:Hsp90ab1 UTSW 17 45569499 unclassified probably benign
R1142:Hsp90ab1 UTSW 17 45568974 nonsense probably null
R1738:Hsp90ab1 UTSW 17 45571806 missense probably damaging 1.00
R2109:Hsp90ab1 UTSW 17 45569328 missense probably benign 0.32
R2156:Hsp90ab1 UTSW 17 45569703 missense possibly damaging 0.82
R2509:Hsp90ab1 UTSW 17 45569341 missense probably damaging 1.00
R3686:Hsp90ab1 UTSW 17 45569288 missense probably damaging 1.00
R3695:Hsp90ab1 UTSW 17 45571477 missense probably damaging 0.98
R3700:Hsp90ab1 UTSW 17 45571514 missense possibly damaging 0.69
R4968:Hsp90ab1 UTSW 17 45571036 missense probably benign 0.05
R5809:Hsp90ab1 UTSW 17 45570649 unclassified probably benign
R6833:Hsp90ab1 UTSW 17 45570467 missense probably benign
R6834:Hsp90ab1 UTSW 17 45570467 missense probably benign
R7392:Hsp90ab1 UTSW 17 45569048 missense probably benign 0.10
R7400:Hsp90ab1 UTSW 17 45569284 missense probably benign 0.04
R7584:Hsp90ab1 UTSW 17 45570271 missense probably damaging 1.00
R7834:Hsp90ab1 UTSW 17 45571165 missense possibly damaging 0.85
R7851:Hsp90ab1 UTSW 17 45570452 missense probably benign 0.17
R7977:Hsp90ab1 UTSW 17 45571606 missense probably damaging 1.00
R7987:Hsp90ab1 UTSW 17 45571606 missense probably damaging 1.00
R8115:Hsp90ab1 UTSW 17 45569275 missense possibly damaging 0.64
R8525:Hsp90ab1 UTSW 17 45569800 missense probably benign 0.09
R9046:Hsp90ab1 UTSW 17 45569043 missense probably damaging 1.00
R9378:Hsp90ab1 UTSW 17 45570754 missense probably damaging 1.00
R9569:Hsp90ab1 UTSW 17 45568952 missense possibly damaging 0.94
R9610:Hsp90ab1 UTSW 17 45569674 missense possibly damaging 0.83
R9611:Hsp90ab1 UTSW 17 45569674 missense possibly damaging 0.83
Posted On 2016-08-02