Incidental Mutation 'R1711:Hsp90b1'
ID 190592
Institutional Source Beutler Lab
Gene Symbol Hsp90b1
Ensembl Gene ENSMUSG00000020048
Gene Name heat shock protein 90, beta (Grp94), member 1
Synonyms ERp99, tumor rejection antigen (gp96) 1, Targ2, endoplasmin, Tra-1, Tra1, gp96, GRP94, 90 kDa
MMRRC Submission 039744-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1711 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 86690209-86705509 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 86694525 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 490 (T490K)
Ref Sequence ENSEMBL: ENSMUSP00000020238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020238] [ENSMUST00000129413]
AlphaFold P08113
Predicted Effect probably damaging
Transcript: ENSMUST00000020238
AA Change: T490K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048
AA Change: T490K

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 damaging
Transcript: ENSMUST00000129413
AA Change: T166K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122710
Gene: ENSMUSG00000020048
AA Change: T166K

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: ENSMUST00000218095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220419
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 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 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: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,269,920 (GRCm38) T741I possibly damaging Het
Acot3 A T 12: 84,053,573 (GRCm38) Q41L probably damaging Het
Actl7b G A 4: 56,740,165 (GRCm38) Q398* probably null Het
Adgrb2 C A 4: 129,992,624 (GRCm38) Q186K probably damaging Het
Akr1a1 A G 4: 116,637,974 (GRCm38) probably null Het
Ap3s2 A T 7: 79,880,490 (GRCm38) F192L probably damaging Het
Apobr T G 7: 126,584,979 (GRCm38) probably null Het
Arhgap5 A G 12: 52,519,345 (GRCm38) N1033S probably damaging Het
Arid3c G T 4: 41,725,947 (GRCm38) R219S probably damaging Het
Bves C T 10: 45,347,865 (GRCm38) T207M probably damaging Het
C330027C09Rik A C 16: 49,017,486 (GRCm38) I850L probably benign Het
Cacna1d T C 14: 30,066,056 (GRCm38) K1619R probably damaging Het
Caps2 A T 10: 112,190,978 (GRCm38) D223V possibly damaging Het
Cd163l1 G T 7: 140,220,609 (GRCm38) C101F probably damaging Het
Cd3g A C 9: 44,974,342 (GRCm38) L35R probably damaging Het
Cdh23 A T 10: 60,523,536 (GRCm38) V261E probably benign Het
Cfap54 T G 10: 93,011,020 (GRCm38) T1028P probably damaging Het
Ch25h C A 19: 34,474,286 (GRCm38) V281L probably benign Het
Clu G T 14: 65,980,905 (GRCm38) V405L possibly damaging Het
Col6a3 A T 1: 90,830,213 (GRCm38) H6Q probably damaging Het
Cps1 G A 1: 67,168,374 (GRCm38) probably null Het
Ctr9 T C 7: 111,055,663 (GRCm38) S1134P unknown Het
Cts7 C T 13: 61,352,810 (GRCm38) G308S probably damaging Het
Cyp2c39 C A 19: 39,566,891 (GRCm38) T385K probably damaging Het
Dennd5a A T 7: 109,918,712 (GRCm38) D596E probably benign Het
Disc1 T A 8: 125,124,610 (GRCm38) I413K probably benign Het
Dll3 C T 7: 28,294,497 (GRCm38) G505D probably damaging Het
Dnah3 A G 7: 120,078,571 (GRCm38) W377R probably damaging Het
Dopey2 A G 16: 93,799,926 (GRCm38) D1792G probably damaging Het
Dpep3 T A 8: 105,973,693 (GRCm38) R460S probably benign Het
Ebf4 A G 2: 130,358,831 (GRCm38) N302S probably damaging Het
Egflam T C 15: 7,289,915 (GRCm38) E194G possibly damaging Het
Ep400 A T 5: 110,693,308 (GRCm38) probably benign Het
Ercc6 T C 14: 32,526,176 (GRCm38) M228T probably damaging Het
Fbxo9 T C 9: 78,087,247 (GRCm38) T264A probably damaging Het
Fcrl5 C A 3: 87,457,414 (GRCm38) P486T possibly damaging Het
Fyb T C 15: 6,580,479 (GRCm38) F178L probably damaging Het
Gaa T A 11: 119,280,460 (GRCm38) I646N probably damaging Het
Gm11639 A G 11: 104,720,688 (GRCm38) K452R probably benign Het
Gm13124 A T 4: 144,555,406 (GRCm38) I272K probably damaging Het
Gm5431 A T 11: 48,895,026 (GRCm38) V174E possibly damaging Het
Gnpat T G 8: 124,886,952 (GRCm38) probably null Het
Gucy1a2 G T 9: 3,759,622 (GRCm38) R476I probably benign Het
Hars A G 18: 36,771,103 (GRCm38) L241P probably damaging Het
Haus5 G A 7: 30,657,903 (GRCm38) Q399* probably null Het
Hephl1 T C 9: 15,059,246 (GRCm38) E984G probably damaging Het
Hmces C T 6: 87,921,592 (GRCm38) Q132* probably null Het
Idh2 T G 7: 80,099,158 (GRCm38) E125A probably damaging Het
Ipo13 G T 4: 117,904,522 (GRCm38) H465Q probably benign Het
Isca2 C A 12: 84,773,619 (GRCm38) T31K probably damaging Het
Itga9 T C 9: 118,698,461 (GRCm38) V560A probably benign Het
Jhy G A 9: 40,911,157 (GRCm38) Q562* probably null Het
Kcnj5 A G 9: 32,322,569 (GRCm38) I150T probably damaging Het
Kmt2a A G 9: 44,841,621 (GRCm38) I1419T unknown Het
Lix1 T C 17: 17,446,058 (GRCm38) F160L possibly damaging Het
Lonrf2 G A 1: 38,813,276 (GRCm38) P165S probably benign Het
Map4k1 A T 7: 28,989,352 (GRCm38) Q276L possibly damaging Het
Mmp9 G A 2: 164,949,422 (GRCm38) G171S probably damaging Het
Mvp C A 7: 126,995,735 (GRCm38) probably null Het
Mylk3 T A 8: 85,364,831 (GRCm38) E115V probably damaging Het
Nebl T A 2: 17,388,754 (GRCm38) T603S probably damaging Het
Nudt15 T C 14: 73,523,336 (GRCm38) D105G probably benign Het
Olfr1369-ps1 G A 13: 21,116,306 (GRCm38) V205I probably benign Het
Olfr527 A C 7: 140,335,999 (GRCm38) T46P possibly damaging Het
Olfr556 G T 7: 102,670,162 (GRCm38) V81L probably damaging Het
Olfr65 T A 7: 103,906,699 (GRCm38) W87R probably damaging Het
Olfr685 A T 7: 105,180,760 (GRCm38) H199Q probably damaging Het
Olfr971 A G 9: 39,840,285 (GRCm38) M284V probably benign Het
Osbpl9 A T 4: 109,066,218 (GRCm38) C495S probably damaging Het
Pamr1 A G 2: 102,640,852 (GRCm38) T507A probably benign Het
Pcdhb9 T A 18: 37,403,327 (GRCm38) C791* probably null Het
Pcgf6 T C 19: 47,050,518 (GRCm38) E101G probably damaging Het
Pdgfrl A T 8: 40,985,794 (GRCm38) I256F probably benign Het
Pdzd7 T C 19: 45,045,511 (GRCm38) R45G possibly damaging Het
Pecr C T 1: 72,277,409 (GRCm38) V46I possibly damaging Het
Pgr A G 9: 8,922,714 (GRCm38) probably null Het
Pik3c2a A T 7: 116,417,927 (GRCm38) Y198* probably null Het
Pp2d1 T A 17: 53,515,310 (GRCm38) M243L possibly damaging Het
Ppp1r1a T A 15: 103,533,492 (GRCm38) I50L possibly damaging Het
Proc T C 18: 32,127,406 (GRCm38) D222G probably benign Het
Ptprq T A 10: 107,534,699 (GRCm38) R2044* probably null Het
Ranbp2 T C 10: 58,460,519 (GRCm38) V326A probably benign Het
Reep6 T A 10: 80,333,981 (GRCm38) F122I possibly damaging Het
Rubcn C A 16: 32,843,101 (GRCm38) R388S probably damaging Het
Rusc1 A G 3: 89,089,293 (GRCm38) L62P probably damaging Het
Satb2 T C 1: 56,850,289 (GRCm38) N423S probably damaging Het
Serpinb9d A G 13: 33,200,748 (GRCm38) K236R probably benign Het
Slc4a7 A G 14: 14,765,709 (GRCm38) R680G probably benign Het
Slitrk1 T A 14: 108,913,096 (GRCm38) Y61F probably benign Het
Son A G 16: 91,660,226 (GRCm38) probably benign Het
Sparc T A 11: 55,395,776 (GRCm38) probably null Het
Spon2 A G 5: 33,216,385 (GRCm38) F194S probably damaging Het
Spta1 A G 1: 174,241,042 (GRCm38) E2136G probably damaging Het
Stat4 T C 1: 52,106,925 (GRCm38) S746P probably damaging Het
Stk31 T A 6: 49,469,304 (GRCm38) S958R probably benign Het
Stom T A 2: 35,315,917 (GRCm38) I267F probably damaging Het
Stx12 A T 4: 132,858,477 (GRCm38) D197E probably damaging Het
Taok3 A T 5: 117,255,926 (GRCm38) N588I possibly damaging Het
Tgs1 A G 4: 3,598,658 (GRCm38) D657G probably damaging Het
Trim6 A G 7: 104,232,837 (GRCm38) T432A probably damaging Het
Trim72 C G 7: 128,004,585 (GRCm38) C34W probably damaging Het
Trpc4ap A T 2: 155,657,744 (GRCm38) I286N probably benign Het
Ttn A G 2: 76,863,561 (GRCm38) V321A possibly damaging Het
Utp4 T A 8: 106,918,720 (GRCm38) I583N probably damaging Het
Wdfy2 G T 14: 62,944,097 (GRCm38) M225I probably benign Het
Wfdc1 A G 8: 119,681,037 (GRCm38) T134A probably benign Het
Wnt9b A G 11: 103,732,128 (GRCm38) S150P probably damaging Het
Zbtb46 A T 2: 181,411,684 (GRCm38) F412I probably damaging Het
Zc3h15 G A 2: 83,661,148 (GRCm38) R240H probably benign Het
Zfp11 A T 5: 129,656,673 (GRCm38) Y575N probably benign Het
Zfp687 T C 3: 95,011,889 (GRCm38) M191V probably benign Het
Other mutations in Hsp90b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Hsp90b1 APN 10 86,704,370 (GRCm38) missense probably benign 0.40
IGL01671:Hsp90b1 APN 10 86,704,325 (GRCm38) missense probably benign 0.07
IGL01673:Hsp90b1 APN 10 86,693,432 (GRCm38) missense probably damaging 0.99
IGL02097:Hsp90b1 APN 10 86,691,684 (GRCm38) unclassified probably benign
IGL02124:Hsp90b1 APN 10 86,705,358 (GRCm38) unclassified probably benign
IGL02257:Hsp90b1 APN 10 86,698,589 (GRCm38) missense probably damaging 1.00
IGL02339:Hsp90b1 APN 10 86,701,814 (GRCm38) missense probably damaging 1.00
IGL02342:Hsp90b1 APN 10 86,695,739 (GRCm38) critical splice acceptor site probably null
R0329:Hsp90b1 UTSW 10 86,694,155 (GRCm38) missense probably damaging 1.00
R0330:Hsp90b1 UTSW 10 86,694,155 (GRCm38) missense probably damaging 1.00
R0735:Hsp90b1 UTSW 10 86,695,748 (GRCm38) splice site probably benign
R1531:Hsp90b1 UTSW 10 86,696,795 (GRCm38) missense probably benign 0.02
R1540:Hsp90b1 UTSW 10 86,694,042 (GRCm38) missense probably damaging 1.00
R1797:Hsp90b1 UTSW 10 86,701,745 (GRCm38) missense possibly damaging 0.86
R2128:Hsp90b1 UTSW 10 86,695,706 (GRCm38) missense probably damaging 1.00
R2129:Hsp90b1 UTSW 10 86,695,706 (GRCm38) missense probably damaging 1.00
R2903:Hsp90b1 UTSW 10 86,703,485 (GRCm38) missense probably damaging 1.00
R4735:Hsp90b1 UTSW 10 86,693,955 (GRCm38) missense probably damaging 1.00
R4749:Hsp90b1 UTSW 10 86,701,808 (GRCm38) missense probably damaging 1.00
R5011:Hsp90b1 UTSW 10 86,696,753 (GRCm38) missense probably benign 0.37
R5650:Hsp90b1 UTSW 10 86,693,503 (GRCm38) missense probably damaging 1.00
R5950:Hsp90b1 UTSW 10 86,701,745 (GRCm38) missense possibly damaging 0.86
R6731:Hsp90b1 UTSW 10 86,701,905 (GRCm38) missense probably benign 0.01
R6835:Hsp90b1 UTSW 10 86,694,085 (GRCm38) missense probably damaging 1.00
R7038:Hsp90b1 UTSW 10 86,695,866 (GRCm38) missense probably damaging 0.99
R7250:Hsp90b1 UTSW 10 86,691,708 (GRCm38) missense unknown
R7343:Hsp90b1 UTSW 10 86,692,183 (GRCm38) missense probably damaging 1.00
R8027:Hsp90b1 UTSW 10 86,696,730 (GRCm38) missense probably damaging 0.97
R8126:Hsp90b1 UTSW 10 86,694,382 (GRCm38) missense probably damaging 0.99
R8336:Hsp90b1 UTSW 10 86,691,104 (GRCm38) makesense probably null
R8768:Hsp90b1 UTSW 10 86,705,305 (GRCm38) critical splice donor site probably null
R9024:Hsp90b1 UTSW 10 86,705,310 (GRCm38) missense possibly damaging 0.85
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-14