Incidental Mutation 'R2109:Hsp90ab1'
ID 232420
Institutional Source Beutler Lab
Gene Symbol Hsp90ab1
Ensembl Gene ENSMUSG00000023944
Gene Name heat shock protein 90 alpha (cytosolic), class B member 1
Synonyms Hsp90, Hsp84-1, C81438, Hsp84, Hspcb
MMRRC Submission 040113-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2109 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 45878704-45884187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45880254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 96 (H96Q)
Ref Sequence ENSEMBL: ENSMUSP00000126239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024739] [ENSMUST00000041353] [ENSMUST00000130406] [ENSMUST00000163966] [ENSMUST00000165127] [ENSMUST00000226086] [ENSMUST00000166469] [ENSMUST00000224905] [ENSMUST00000223987]
AlphaFold P11499
Predicted Effect probably benign
Transcript: ENSMUST00000024739
AA Change: H458Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: H458Q

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
SMART Domains Protein: ENSMUSP00000131601
Gene: ENSMUSG00000023944

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
AA Change: H96Q

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126239
Gene: ENSMUSG00000023944
AA Change: H96Q

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:HSP90 37 161 3.8e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225226
Predicted Effect probably benign
Transcript: ENSMUST00000224341
Predicted Effect probably benign
Transcript: ENSMUST00000226086
Predicted Effect probably benign
Transcript: ENSMUST00000166469
SMART Domains Protein: ENSMUSP00000127338
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
Pfam:HSP90 4 189 1.3e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224559
Predicted Effect probably benign
Transcript: ENSMUST00000224905
Predicted Effect probably benign
Transcript: ENSMUST00000223987
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 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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik G T 7: 43,900,435 (GRCm39) R113S probably benign Het
Ackr2 A T 9: 121,738,026 (GRCm39) I134F probably damaging Het
Actr3b T A 5: 26,036,709 (GRCm39) I174N possibly damaging Het
Akap9 T A 5: 4,094,847 (GRCm39) S2214T possibly damaging Het
Arhgef12 C A 9: 42,890,768 (GRCm39) R986L possibly damaging Het
Brap G T 5: 121,801,422 (GRCm39) S59I possibly damaging Het
Btnl1 C T 17: 34,598,578 (GRCm39) H65Y probably damaging Het
C1s2 T C 6: 124,612,004 (GRCm39) T121A probably damaging Het
Capn1 T A 19: 6,064,388 (GRCm39) Y37F probably benign Het
Ccdc39 T C 3: 33,869,650 (GRCm39) K726E probably damaging Het
Cd300lb G A 11: 114,816,865 (GRCm39) S195F probably damaging Het
Cenpf T C 1: 189,411,264 (GRCm39) K307E probably damaging Het
Chodl A C 16: 78,738,251 (GRCm39) N73T possibly damaging Het
Cimip2c G A 5: 30,637,851 (GRCm39) G66E probably damaging Het
Crnn A T 3: 93,055,747 (GRCm39) M178L probably benign Het
Cyp4a12b A G 4: 115,290,110 (GRCm39) D221G probably damaging Het
Dipk2a A T 9: 94,406,498 (GRCm39) I303N probably damaging Het
Dmxl2 A G 9: 54,301,097 (GRCm39) V2338A probably benign Het
Dnah9 G T 11: 65,928,411 (GRCm39) P2086Q probably damaging Het
Dsg2 A G 18: 20,725,346 (GRCm39) I486V probably benign Het
E2f8 A G 7: 48,524,855 (GRCm39) S265P probably damaging Het
Eif1b A G 9: 120,323,296 (GRCm39) D52G probably benign Het
Etl4 A T 2: 20,790,153 (GRCm39) T602S probably benign Het
Exoc3l2 A T 7: 19,223,059 (GRCm39) probably benign Het
Fbxl6 C A 15: 76,421,173 (GRCm39) V297F probably damaging Het
Fgr T A 4: 132,725,786 (GRCm39) N398K probably benign Het
G3bp1 A G 11: 55,379,986 (GRCm39) R107G probably damaging Het
Gp2 A T 7: 119,052,155 (GRCm39) N186K probably benign Het
Hbs1l T A 10: 21,217,831 (GRCm39) L249* probably null Het
Hmgcs2 T A 3: 98,204,337 (GRCm39) L246* probably null Het
Ibtk C T 9: 85,588,603 (GRCm39) V1078I probably benign Het
Ltn1 T C 16: 87,212,530 (GRCm39) D677G probably benign Het
Lyst C T 13: 13,887,405 (GRCm39) T3078I possibly damaging Het
Mamdc4 A G 2: 25,459,402 (GRCm39) F199S probably damaging Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mki67 G A 7: 135,299,592 (GRCm39) T1814I probably damaging Het
Msantd5l T A 11: 51,145,264 (GRCm39) I108F possibly damaging Het
Mttp A T 3: 137,800,763 (GRCm39) F766I probably benign Het
Nbl1 T A 4: 138,810,915 (GRCm39) probably null Het
Nmrk1 T A 19: 18,618,802 (GRCm39) L118Q probably damaging Het
Nopchap1 C T 10: 83,201,656 (GRCm39) S143L probably damaging Het
Oog3 A T 4: 143,886,082 (GRCm39) L172H probably damaging Het
Or2y11 T G 11: 49,443,260 (GRCm39) S229A probably damaging Het
Osbpl1a T G 18: 12,892,457 (GRCm39) Q332P probably damaging Het
Pik3cg A G 12: 32,243,709 (GRCm39) F921L possibly damaging Het
Plch2 T C 4: 155,069,054 (GRCm39) S1086G possibly damaging Het
Plekha5 A G 6: 140,369,942 (GRCm39) T18A possibly damaging Het
Pogz T A 3: 94,786,276 (GRCm39) S955T probably benign Het
Pot1b A T 17: 55,960,413 (GRCm39) I639N probably benign Het
Prkdc T C 16: 15,505,254 (GRCm39) I852T probably benign Het
Prps1l1 A G 12: 35,035,521 (GRCm39) K212R probably benign Het
Ptpn5 A G 7: 46,735,807 (GRCm39) Y304H probably damaging Het
Ralgapa1 A G 12: 55,822,973 (GRCm39) I281T possibly damaging Het
Rgs22 A T 15: 36,099,880 (GRCm39) Y278* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 T A 11: 119,333,489 (GRCm39) Y2899* probably null Het
Rttn C T 18: 89,004,197 (GRCm39) T397I possibly damaging Het
Sacs G T 14: 61,410,902 (GRCm39) probably null Het
Sbf2 G T 7: 110,060,419 (GRCm39) Q182K probably damaging Het
Sec14l5 C T 16: 4,984,968 (GRCm39) R105* probably null Het
Sh2b1 A T 7: 126,071,536 (GRCm39) D216E possibly damaging Het
Sh3gl3 A G 7: 81,920,008 (GRCm39) N72S possibly damaging Het
Slc12a1 A T 2: 125,015,619 (GRCm39) I391F probably damaging Het
Slc36a2 G A 11: 55,072,381 (GRCm39) A77V probably damaging Het
Smc2 A T 4: 52,474,987 (GRCm39) I888L probably benign Het
Smoc1 C T 12: 81,197,450 (GRCm39) T194M probably damaging Het
Sorcs1 C T 19: 50,666,630 (GRCm39) G93R probably benign Het
Sox30 T G 11: 45,882,595 (GRCm39) F542V probably damaging Het
Svep1 A G 4: 58,206,030 (GRCm39) V116A possibly damaging Het
Synj2 A G 17: 6,063,966 (GRCm39) D330G probably benign Het
Tenm3 A C 8: 48,796,384 (GRCm39) S202A possibly damaging Het
Tg C T 15: 66,601,443 (GRCm39) T151I probably benign Het
Tnfaip2 A G 12: 111,414,527 (GRCm39) E361G probably damaging Het
Tnk1 A T 11: 69,746,009 (GRCm39) D305E probably damaging Het
Tpp1 A G 7: 105,399,177 (GRCm39) L133P probably damaging Het
Trappc1 T A 11: 69,215,243 (GRCm39) M41K probably damaging Het
Tsen54 A G 11: 115,706,549 (GRCm39) D9G probably damaging Het
Ttn T A 2: 76,804,598 (GRCm39) I225F probably damaging Het
Ube4b T C 4: 149,457,298 (GRCm39) K313R probably benign Het
Vps50 T C 6: 3,555,379 (GRCm39) V425A probably damaging Het
Wbp2 A T 11: 115,971,445 (GRCm39) Y153* probably null Het
Xrn1 A G 9: 95,861,273 (GRCm39) S478G probably benign Het
Zfp354c T C 11: 50,707,969 (GRCm39) E77G probably benign Het
Zfp462 T C 4: 55,008,496 (GRCm39) M154T probably benign Het
Zfp704 A G 3: 9,539,585 (GRCm39) V255A probably damaging Het
Zfp763 G T 17: 33,238,752 (GRCm39) A131E probably benign Het
Zfp931 A T 2: 177,711,651 (GRCm39) V32E probably null Het
Other mutations in Hsp90ab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Hsp90ab1 APN 17 45,880,490 (GRCm39) missense probably damaging 0.96
IGL02234:Hsp90ab1 APN 17 45,880,661 (GRCm39) missense probably benign 0.01
IGL02275:Hsp90ab1 APN 17 45,879,364 (GRCm39) missense possibly damaging 0.76
IGL03069:Hsp90ab1 APN 17 45,879,954 (GRCm39) missense possibly damaging 0.65
IGL03104:Hsp90ab1 APN 17 45,882,449 (GRCm39) missense probably damaging 0.99
R0457:Hsp90ab1 UTSW 17 45,879,914 (GRCm39) missense probably damaging 1.00
R0787:Hsp90ab1 UTSW 17 45,880,425 (GRCm39) unclassified probably benign
R0788:Hsp90ab1 UTSW 17 45,880,425 (GRCm39) unclassified probably benign
R0790:Hsp90ab1 UTSW 17 45,880,425 (GRCm39) unclassified probably benign
R1142:Hsp90ab1 UTSW 17 45,879,900 (GRCm39) nonsense probably null
R1738:Hsp90ab1 UTSW 17 45,882,732 (GRCm39) missense probably damaging 1.00
R2156:Hsp90ab1 UTSW 17 45,880,629 (GRCm39) missense possibly damaging 0.82
R2509:Hsp90ab1 UTSW 17 45,880,267 (GRCm39) missense probably damaging 1.00
R3686:Hsp90ab1 UTSW 17 45,880,214 (GRCm39) missense probably damaging 1.00
R3695:Hsp90ab1 UTSW 17 45,882,403 (GRCm39) missense probably damaging 0.98
R3700:Hsp90ab1 UTSW 17 45,882,440 (GRCm39) missense possibly damaging 0.69
R4968:Hsp90ab1 UTSW 17 45,881,962 (GRCm39) missense probably benign 0.05
R5809:Hsp90ab1 UTSW 17 45,881,575 (GRCm39) unclassified probably benign
R6833:Hsp90ab1 UTSW 17 45,881,393 (GRCm39) missense probably benign
R6834:Hsp90ab1 UTSW 17 45,881,393 (GRCm39) missense probably benign
R7392:Hsp90ab1 UTSW 17 45,879,974 (GRCm39) missense probably benign 0.10
R7400:Hsp90ab1 UTSW 17 45,880,210 (GRCm39) missense probably benign 0.04
R7584:Hsp90ab1 UTSW 17 45,881,197 (GRCm39) missense probably damaging 1.00
R7834:Hsp90ab1 UTSW 17 45,882,091 (GRCm39) missense possibly damaging 0.85
R7851:Hsp90ab1 UTSW 17 45,881,378 (GRCm39) missense probably benign 0.17
R7977:Hsp90ab1 UTSW 17 45,882,532 (GRCm39) missense probably damaging 1.00
R7987:Hsp90ab1 UTSW 17 45,882,532 (GRCm39) missense probably damaging 1.00
R8115:Hsp90ab1 UTSW 17 45,880,201 (GRCm39) missense possibly damaging 0.64
R8525:Hsp90ab1 UTSW 17 45,880,726 (GRCm39) missense probably benign 0.09
R9046:Hsp90ab1 UTSW 17 45,879,969 (GRCm39) missense probably damaging 1.00
R9378:Hsp90ab1 UTSW 17 45,881,680 (GRCm39) missense probably damaging 1.00
R9569:Hsp90ab1 UTSW 17 45,879,878 (GRCm39) missense possibly damaging 0.94
R9610:Hsp90ab1 UTSW 17 45,880,600 (GRCm39) missense possibly damaging 0.83
R9611:Hsp90ab1 UTSW 17 45,880,600 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- AGTTGGCCACTTGCTCTTTG -3'
(R):5'- ACAAGAAGTTCTATGAGGCCTTCTC -3'

Sequencing Primer
(F):5'- TGCTCTCACCTACAGGATTAATAC -3'
(R):5'- GAGGCCTTCTCCAAAAATTTAAAGG -3'
Posted On 2014-09-18