Incidental Mutation 'IGL01550:Hsp90b1'
ID 90563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsp90b1
Ensembl Gene ENSMUSG00000020048
Gene Name heat shock protein 90, beta (Grp94), member 1
Synonyms ERp99, gp96, GRP94, tumor rejection antigen (gp96) 1, Tra-1, endoplasmin, 90 kDa, Targ2, Tra1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01550
Quality Score
Status
Chromosome 10
Chromosomal Location 86526705-86541308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86540234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 26 (D26N)
Ref Sequence ENSEMBL: ENSMUSP00000020238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020238] [ENSMUST00000061458] [ENSMUST00000075632] [ENSMUST00000217747]
AlphaFold P08113
Predicted Effect probably benign
Transcript: ENSMUST00000020238
AA Change: D26N

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048
AA Change: D26N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 22 34 N/A INTRINSIC
HATPase_c 96 255 4.96e-9 SMART
Pfam:HSP90 257 781 2.5e-233 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061458
SMART Domains Protein: ENSMUSP00000062844
Gene: ENSMUSG00000044937

DomainStartEndE-ValueType
low complexity region 216 229 N/A INTRINSIC
low complexity region 307 315 N/A INTRINSIC
Blast:AAA 336 401 9e-8 BLAST
SCOP:d1jpna2 338 370 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000075632
SMART Domains Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937

DomainStartEndE-ValueType
low complexity region 216 229 N/A INTRINSIC
low complexity region 307 315 N/A INTRINSIC
Pfam:NACHT 337 515 5.4e-10 PFAM
SCOP:d1qqea_ 805 1028 2e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174945
Predicted Effect probably benign
Transcript: ENSMUST00000217747
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 a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before somite formation with failure of primitive streak formation, absence of the chorion and amnion, and failure of mesoderm formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T G 11: 3,887,974 (GRCm39) R137S unknown Het
Epha8 G T 4: 136,659,051 (GRCm39) Q868K possibly damaging Het
Erc1 T A 6: 119,760,355 (GRCm39) M386L probably damaging Het
Gfpt2 T A 11: 49,715,150 (GRCm39) probably null Het
Gpr142 T A 11: 114,695,152 (GRCm39) L39Q probably damaging Het
Hmcn1 A T 1: 150,474,148 (GRCm39) W4765R probably damaging Het
Hmcn2 A T 2: 31,314,264 (GRCm39) E3603V possibly damaging Het
Kmt2c T C 5: 25,486,274 (GRCm39) T4760A probably damaging Het
Lmo7 C A 14: 102,163,576 (GRCm39) probably benign Het
Mup4 A T 4: 59,960,120 (GRCm39) I48K probably damaging Het
Mylk3 T A 8: 86,091,718 (GRCm39) D29V probably damaging Het
Myo1b A G 1: 51,823,690 (GRCm39) F405S probably damaging Het
Nbea T C 3: 55,712,669 (GRCm39) D2136G possibly damaging Het
Or1l4b A T 2: 37,036,986 (GRCm39) Y254F probably damaging Het
Or52a20 T G 7: 103,366,204 (GRCm39) H134Q probably damaging Het
Or5g27 T A 2: 85,409,875 (GRCm39) C97* probably null Het
Or7e175 A T 9: 20,048,750 (GRCm39) T113S probably damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Rpp40 T C 13: 36,090,183 (GRCm39) probably null Het
Samd7 T A 3: 30,819,399 (GRCm39) S383T probably damaging Het
Tbc1d10c T C 19: 4,234,823 (GRCm39) T413A probably damaging Het
Tlr12 A G 4: 128,509,535 (GRCm39) L905P probably damaging Het
Tnr A G 1: 159,701,828 (GRCm39) K643R probably benign Het
Vmn2r124 T C 17: 18,283,617 (GRCm39) probably null Het
Vwf A T 6: 125,656,252 (GRCm39) I2606F probably benign Het
Wbp4 T C 14: 79,703,774 (GRCm39) T258A probably benign Het
Zfp1005 T A 2: 150,108,363 (GRCm39) probably benign Het
Zfp758 T C 17: 22,594,021 (GRCm39) L137S probably damaging Het
Other mutations in Hsp90b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01671:Hsp90b1 APN 10 86,540,189 (GRCm39) missense probably benign 0.07
IGL01673:Hsp90b1 APN 10 86,529,296 (GRCm39) missense probably damaging 0.99
IGL02097:Hsp90b1 APN 10 86,527,548 (GRCm39) unclassified probably benign
IGL02124:Hsp90b1 APN 10 86,541,222 (GRCm39) unclassified probably benign
IGL02257:Hsp90b1 APN 10 86,534,453 (GRCm39) missense probably damaging 1.00
IGL02339:Hsp90b1 APN 10 86,537,678 (GRCm39) missense probably damaging 1.00
IGL02342:Hsp90b1 APN 10 86,531,603 (GRCm39) critical splice acceptor site probably null
R0329:Hsp90b1 UTSW 10 86,530,019 (GRCm39) missense probably damaging 1.00
R0330:Hsp90b1 UTSW 10 86,530,019 (GRCm39) missense probably damaging 1.00
R0735:Hsp90b1 UTSW 10 86,531,612 (GRCm39) splice site probably benign
R1531:Hsp90b1 UTSW 10 86,532,659 (GRCm39) missense probably benign 0.02
R1540:Hsp90b1 UTSW 10 86,529,906 (GRCm39) missense probably damaging 1.00
R1711:Hsp90b1 UTSW 10 86,530,389 (GRCm39) missense probably damaging 1.00
R1797:Hsp90b1 UTSW 10 86,537,609 (GRCm39) missense possibly damaging 0.86
R2128:Hsp90b1 UTSW 10 86,531,570 (GRCm39) missense probably damaging 1.00
R2129:Hsp90b1 UTSW 10 86,531,570 (GRCm39) missense probably damaging 1.00
R2903:Hsp90b1 UTSW 10 86,539,349 (GRCm39) missense probably damaging 1.00
R4735:Hsp90b1 UTSW 10 86,529,819 (GRCm39) missense probably damaging 1.00
R4749:Hsp90b1 UTSW 10 86,537,672 (GRCm39) missense probably damaging 1.00
R5011:Hsp90b1 UTSW 10 86,532,617 (GRCm39) missense probably benign 0.37
R5650:Hsp90b1 UTSW 10 86,529,367 (GRCm39) missense probably damaging 1.00
R5950:Hsp90b1 UTSW 10 86,537,609 (GRCm39) missense possibly damaging 0.86
R6731:Hsp90b1 UTSW 10 86,537,769 (GRCm39) missense probably benign 0.01
R6835:Hsp90b1 UTSW 10 86,529,949 (GRCm39) missense probably damaging 1.00
R7038:Hsp90b1 UTSW 10 86,531,730 (GRCm39) missense probably damaging 0.99
R7250:Hsp90b1 UTSW 10 86,527,572 (GRCm39) missense unknown
R7343:Hsp90b1 UTSW 10 86,528,047 (GRCm39) missense probably damaging 1.00
R8027:Hsp90b1 UTSW 10 86,532,594 (GRCm39) missense probably damaging 0.97
R8126:Hsp90b1 UTSW 10 86,530,246 (GRCm39) missense probably damaging 0.99
R8336:Hsp90b1 UTSW 10 86,526,968 (GRCm39) makesense probably null
R8768:Hsp90b1 UTSW 10 86,541,169 (GRCm39) critical splice donor site probably null
R9024:Hsp90b1 UTSW 10 86,541,174 (GRCm39) missense possibly damaging 0.85
Posted On 2013-12-09