Incidental Mutation 'R2128:Hsp90b1'
ID 227743
Institutional Source Beutler Lab
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
MMRRC Submission 040131-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2128 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 86526705-86541308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86531570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 421 (D421G)
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: D421G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048
AA Change: D421G

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 possibly damaging
Transcript: ENSMUST00000129413
AA Change: D97G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122710
Gene: ENSMUSG00000020048
AA Change: D97G

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
Meta Mutation Damage Score 0.9478 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,066 (GRCm39) E249G possibly damaging Het
2610028H24Rik A G 10: 76,293,349 (GRCm39) M136V possibly damaging Het
4930523C07Rik A T 1: 159,902,945 (GRCm39) K72* probably null Het
Abca6 A G 11: 110,110,475 (GRCm39) I558T probably benign Het
Acot10 T C 15: 20,666,712 (GRCm39) T10A probably benign Het
Adgrl4 T A 3: 151,205,838 (GRCm39) D233E probably benign Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Aqp3 T A 4: 41,098,061 (GRCm39) I17F probably benign Het
Arap1 T A 7: 101,058,527 (GRCm39) L1375H probably damaging Het
Aspm T C 1: 139,385,373 (GRCm39) V339A probably benign Het
Atp13a3 G A 16: 30,173,094 (GRCm39) A261V probably damaging Het
Casp8ap2 T C 4: 32,640,142 (GRCm39) Y399H probably benign Het
Cept1 A G 3: 106,420,195 (GRCm39) V213A probably damaging Het
Cit A G 5: 116,123,566 (GRCm39) D1469G possibly damaging Het
Cnga2 A G X: 71,051,394 (GRCm39) Y182C possibly damaging Het
Cox20 A G 1: 178,149,512 (GRCm39) I54V probably benign Het
Dhx8 C A 11: 101,629,235 (GRCm39) D261E probably benign Het
Dnah2 A T 11: 69,349,011 (GRCm39) I2486N probably benign Het
Dnah5 A G 15: 28,408,467 (GRCm39) Q3484R probably benign Het
Drd1 T C 13: 54,207,572 (GRCm39) Y207C probably damaging Het
Dtl C T 1: 191,290,222 (GRCm39) V222I probably damaging Het
Dync1h1 T C 12: 110,607,316 (GRCm39) Y2636H probably damaging Het
Endog C A 2: 30,062,048 (GRCm39) D154E probably benign Het
Epc1 A T 18: 6,462,954 (GRCm39) V14E probably damaging Het
Ercc4 C A 16: 12,965,798 (GRCm39) T810K probably damaging Het
Fam43b T A 4: 138,123,299 (GRCm39) N7I possibly damaging Het
Fgd1 T C X: 149,869,213 (GRCm39) probably null Het
Filip1 G T 9: 79,726,612 (GRCm39) T669N probably damaging Het
Fndc1 A G 17: 7,997,497 (GRCm39) probably benign Het
Foxk1 C A 5: 142,420,943 (GRCm39) S189* probably null Het
Gatm T C 2: 122,431,017 (GRCm39) N274S probably damaging Het
Gdf9 A G 11: 53,328,334 (GRCm39) Y430C probably damaging Het
Gga1 C T 15: 78,772,648 (GRCm39) P260S probably damaging Het
Gm11595 A T 11: 99,663,327 (GRCm39) C118S unknown Het
Gm382 G T X: 125,970,274 (GRCm39) V820L possibly damaging Het
Gzmk T A 13: 113,308,548 (GRCm39) I179F probably damaging Het
Hus1 A G 11: 8,956,011 (GRCm39) M174T probably damaging Het
Ifngr2 T A 16: 91,359,761 (GRCm39) Y289* probably null Het
Il6st T A 13: 112,640,709 (GRCm39) H828Q probably benign Het
Impg2 T A 16: 56,038,742 (GRCm39) Y127N probably damaging Het
Irf3 T A 7: 44,651,168 (GRCm39) W345R probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Klhl42 A G 6: 147,003,251 (GRCm39) T342A probably benign Het
Kndc1 G T 7: 139,510,025 (GRCm39) R1289L probably damaging Het
Knl1 A T 2: 118,902,300 (GRCm39) T1334S possibly damaging Het
L3mbtl3 G T 10: 26,189,766 (GRCm39) D499E unknown Het
Ldhd T A 8: 112,353,680 (GRCm39) M478L probably benign Het
Loxl4 C G 19: 42,592,402 (GRCm39) E385D probably damaging Het
Lrriq1 G A 10: 103,050,718 (GRCm39) T678I probably benign Het
Macf1 T A 4: 123,386,567 (GRCm39) I1017F probably benign Het
Madcam1 A G 10: 79,501,406 (GRCm39) E157G possibly damaging Het
Mamdc4 T C 2: 25,459,270 (GRCm39) D195G probably damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Mycbp2 T C 14: 103,438,666 (GRCm39) M2072V probably benign Het
Nck1 A G 9: 100,379,600 (GRCm39) probably null Het
Ndufaf4 G T 4: 24,898,608 (GRCm39) D55Y probably damaging Het
Nek11 A T 9: 105,177,560 (GRCm39) D230E probably benign Het
Nit2 T C 16: 56,981,559 (GRCm39) K67E possibly damaging Het
Or12j2 C T 7: 139,916,342 (GRCm39) T189M probably damaging Het
Or5ae1 T C 7: 84,565,701 (GRCm39) F238S probably damaging Het
Or6a2 T C 7: 106,600,455 (GRCm39) D204G probably damaging Het
Or6c1 A T 10: 129,518,401 (GRCm39) V69E possibly damaging Het
Pakap A G 4: 57,854,890 (GRCm39) Y134C probably benign Het
Pccb G C 9: 100,867,884 (GRCm39) D347E probably damaging Het
Plcl1 T A 1: 55,736,997 (GRCm39) F779L probably damaging Het
Prune2 C A 19: 17,099,786 (GRCm39) D1763E probably benign Het
Pwwp2a A G 11: 43,596,145 (GRCm39) S437G probably benign Het
Rabgap1l A T 1: 160,566,527 (GRCm39) D90E probably benign Het
Rapgef4 T A 2: 72,056,897 (GRCm39) I552N possibly damaging Het
Scn7a A T 2: 66,528,330 (GRCm39) I720K probably damaging Het
Scn9a T A 2: 66,356,998 (GRCm39) N1101I probably damaging Het
Siglec1 A T 2: 130,922,417 (GRCm39) Y553N probably damaging Het
Slc22a23 A G 13: 34,387,953 (GRCm39) L381P possibly damaging Het
Slc7a11 T A 3: 50,338,558 (GRCm39) T284S probably damaging Het
Slc8a2 T A 7: 15,874,417 (GRCm39) probably null Het
Snx29 T A 16: 11,218,835 (GRCm39) S224T probably damaging Het
Stimate T C 14: 30,588,581 (GRCm39) Y103H probably damaging Het
Stox1 T C 10: 62,500,314 (GRCm39) T749A probably benign Het
Tg A G 15: 66,566,743 (GRCm39) I1264V probably benign Het
Top2a A C 11: 98,900,633 (GRCm39) V609G probably damaging Het
Trmt44 G A 5: 35,732,176 (GRCm39) P72S probably benign Het
Ttll3 G C 6: 113,389,895 (GRCm39) S760T probably benign Het
Ttn T C 2: 76,579,022 (GRCm39) D23957G probably damaging Het
Ttn G A 2: 76,664,241 (GRCm39) probably benign Het
Ubxn1 T G 19: 8,849,434 (GRCm39) V59G probably benign Het
Ubxn4 T C 1: 128,172,247 (GRCm39) S14P probably benign Het
Uso1 T A 5: 92,343,229 (GRCm39) M771K probably benign Het
Utp20 A G 10: 88,649,917 (GRCm39) F431S probably damaging Het
Vmn1r206 T C 13: 22,804,782 (GRCm39) S142G probably benign Het
Vmn2r19 A G 6: 123,285,289 (GRCm39) probably null Het
Vps36 G T 8: 22,708,305 (GRCm39) probably null Het
Wnt3 A G 11: 103,703,474 (GRCm39) H319R possibly damaging Het
Zbtb26 G T 2: 37,326,563 (GRCm39) Q158K probably benign Het
Zfp648 T C 1: 154,080,353 (GRCm39) S171P 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTCACGGGAAACATTGAGGG -3'
(R):5'- AGTCGATTTTGTTTGTACCCACATC -3'

Sequencing Primer
(F):5'- GGAGATCATCGGAATCCACCTG -3'
(R):5'- CACATCTGCACCTCGAGG -3'
Posted On 2014-09-17