Incidental Mutation 'IGL02342:Hsp90b1'
ID 289165
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 # IGL02342
Quality Score
Status
Chromosome 10
Chromosomal Location 86526705-86541308 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 86531603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020238] [ENSMUST00000020238] [ENSMUST00000129413] [ENSMUST00000129413]
AlphaFold P08113
Predicted Effect probably null
Transcript: ENSMUST00000020238
SMART Domains Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048

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 null
Transcript: ENSMUST00000020238
SMART Domains Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048

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 noncoding transcript
Transcript: ENSMUST00000129178
Predicted Effect probably null
Transcript: ENSMUST00000129413
SMART Domains Protein: ENSMUSP00000122710
Gene: ENSMUSG00000020048

DomainStartEndE-ValueType
coiled coil region 9 35 N/A INTRINSIC
Pfam:HSP90 39 373 3.8e-170 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000129413
SMART Domains Protein: ENSMUSP00000122710
Gene: ENSMUSG00000020048

DomainStartEndE-ValueType
coiled coil region 9 35 N/A INTRINSIC
Pfam:HSP90 39 373 3.8e-170 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152600
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218691
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik C A 10: 43,050,997 (GRCm39) P97Q probably damaging Het
Abcb10 A T 8: 124,688,773 (GRCm39) V501E probably damaging Het
Acsf3 T C 8: 123,544,237 (GRCm39) Y572H probably benign Het
Adamts3 A T 5: 89,839,332 (GRCm39) probably null Het
Alox8 A G 11: 69,077,053 (GRCm39) L480P probably damaging Het
Arhgap35 G A 7: 16,296,305 (GRCm39) T920I probably benign Het
Brca2 C A 5: 150,466,289 (GRCm39) L2018M possibly damaging Het
Brdt C A 5: 107,490,069 (GRCm39) H45N probably damaging Het
C1s2 A G 6: 124,609,075 (GRCm39) F155L probably damaging Het
Ccser2 A G 14: 36,640,562 (GRCm39) probably benign Het
Cd8a T A 6: 71,350,723 (GRCm39) C63S probably damaging Het
Clk2 A T 3: 89,082,998 (GRCm39) T424S probably benign Het
Cntn1 A G 15: 92,143,898 (GRCm39) E287G probably benign Het
Cobl A C 11: 12,203,672 (GRCm39) V928G possibly damaging Het
Col12a1 A G 9: 79,557,178 (GRCm39) probably null Het
Crnkl1 A T 2: 145,766,633 (GRCm39) probably null Het
Defb26 T C 2: 152,350,121 (GRCm39) N53S possibly damaging Het
Duox1 A T 2: 122,177,793 (GRCm39) T1526S probably damaging Het
Dync2h1 A G 9: 7,142,246 (GRCm39) L1233P probably damaging Het
Eif5a2 A G 3: 28,847,910 (GRCm39) E116G possibly damaging Het
Garin1b A G 6: 29,323,829 (GRCm39) T185A possibly damaging Het
Gdap2 G A 3: 100,085,632 (GRCm39) A185T probably damaging Het
Grm8 T C 6: 27,363,803 (GRCm39) R571G probably benign Het
Hjv G A 3: 96,435,488 (GRCm39) D249N possibly damaging Het
Ift70a1 G T 2: 75,810,976 (GRCm39) T369K probably benign Het
Ighv1-75 T G 12: 115,797,878 (GRCm39) probably benign Het
Ikzf1 A G 11: 11,650,216 (GRCm39) probably benign Het
Itprid2 A G 2: 79,490,629 (GRCm39) N943S probably benign Het
Kdm4d A G 9: 14,374,860 (GRCm39) W333R probably damaging Het
Lama3 A T 18: 12,624,533 (GRCm39) N1426I probably damaging Het
Lmbrd1 A G 1: 24,743,959 (GRCm39) Y119C probably damaging Het
Mctp1 A G 13: 77,172,976 (GRCm39) Y884C probably damaging Het
Naip6 G T 13: 100,439,748 (GRCm39) P340T possibly damaging Het
Nfkbib G T 7: 28,461,528 (GRCm39) H70N probably damaging Het
Nol4 A T 18: 22,903,926 (GRCm39) probably benign Het
Obscn C T 11: 58,891,914 (GRCm39) A6873T probably benign Het
Or2ag1 A G 7: 106,313,232 (GRCm39) S219P probably benign Het
Or51b4 T A 7: 103,530,587 (GRCm39) I288F probably benign Het
Or6x1 T A 9: 40,098,823 (GRCm39) N137K probably benign Het
Paqr6 A G 3: 88,273,491 (GRCm39) Y136C probably damaging Het
Pcdh18 T A 3: 49,710,493 (GRCm39) D274V probably damaging Het
Phip A G 9: 82,768,745 (GRCm39) Y1196H probably damaging Het
Prc1 T C 7: 79,959,190 (GRCm39) L345S probably damaging Het
Smpdl3a A G 10: 57,685,276 (GRCm39) probably benign Het
Tac1 G T 6: 7,559,119 (GRCm39) probably null Het
Tasor T A 14: 27,198,624 (GRCm39) S1319T possibly damaging Het
Tg A G 15: 66,636,140 (GRCm39) T576A probably benign Het
Thbs2 A T 17: 14,896,578 (GRCm39) D770E probably damaging Het
Tmem117 T C 15: 94,909,331 (GRCm39) V248A possibly damaging Het
Trpm8 T C 1: 88,255,972 (GRCm39) I209T possibly damaging Het
Wrap53 A G 11: 69,454,417 (GRCm39) F244L probably damaging Het
Wrap73 A T 4: 154,233,237 (GRCm39) Q137L probably benign Het
Zfhx4 A T 3: 5,467,434 (GRCm39) T2531S probably benign Het
Other mutations in Hsp90b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Hsp90b1 APN 10 86,540,234 (GRCm39) missense probably benign 0.40
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
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 2015-04-16