Incidental Mutation 'IGL02097:Hsp90b1'
| ID |
279626 |
| 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)
|
| Stock # |
IGL02097
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
86526705-86541308 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 86527548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020238]
[ENSMUST00000129413]
|
| AlphaFold |
P08113 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000020238
AA Change: D776V
|
| SMART Domains |
Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048
AA Change: D776V
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000129413
|
| SMART Domains |
Protein: ENSMUSP00000122710
Gene: ENSMUSG00000020048
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000218691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220419
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
T |
5: 105,109,052 (GRCm39) |
V415D |
possibly damaging |
Het |
| Adcy3 |
C |
T |
12: 4,262,118 (GRCm39) |
A1056V |
probably damaging |
Het |
| Adcy5 |
G |
A |
16: 35,092,468 (GRCm39) |
A610T |
probably damaging |
Het |
| Arhgap21 |
G |
A |
2: 20,884,813 (GRCm39) |
T788I |
probably benign |
Het |
| Asic1 |
T |
C |
15: 99,592,567 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
T |
A |
9: 107,870,199 (GRCm39) |
M68K |
probably benign |
Het |
| Cdhr5 |
G |
T |
7: 140,849,894 (GRCm39) |
T637K |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,529,489 (GRCm39) |
C289S |
probably damaging |
Het |
| Cpne4 |
T |
C |
9: 104,563,701 (GRCm39) |
V26A |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,261,773 (GRCm39) |
D908G |
probably null |
Het |
| Cyp2c29 |
A |
G |
19: 39,296,064 (GRCm39) |
D126G |
probably damaging |
Het |
| Ddx42 |
G |
A |
11: 106,129,986 (GRCm39) |
S426N |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,026,958 (GRCm39) |
V689M |
possibly damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,006,715 (GRCm39) |
T246A |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,205,889 (GRCm39) |
M1036K |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,048,527 (GRCm39) |
N536S |
probably benign |
Het |
| Gnal |
G |
A |
18: 67,350,279 (GRCm39) |
|
probably benign |
Het |
| Gns |
A |
G |
10: 121,226,598 (GRCm39) |
T416A |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,124,943 (GRCm39) |
T603I |
probably damaging |
Het |
| Krt23 |
C |
T |
11: 99,383,836 (GRCm39) |
G19R |
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,014,956 (GRCm39) |
R1584H |
probably benign |
Het |
| Lmbr1l |
C |
T |
15: 98,815,772 (GRCm39) |
V11M |
probably damaging |
Het |
| Man1a2 |
T |
C |
3: 100,489,447 (GRCm39) |
K511E |
possibly damaging |
Het |
| Mrgpra3 |
C |
A |
7: 47,239,204 (GRCm39) |
V241F |
possibly damaging |
Het |
| Myh3 |
A |
G |
11: 66,973,750 (GRCm39) |
D141G |
probably benign |
Het |
| Mylk2 |
G |
A |
2: 152,757,056 (GRCm39) |
C277Y |
probably damaging |
Het |
| Myo3b |
A |
T |
2: 70,069,173 (GRCm39) |
T471S |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,562,096 (GRCm39) |
V1023A |
probably benign |
Het |
| Olfm5 |
T |
A |
7: 103,803,438 (GRCm39) |
T342S |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,647,511 (GRCm39) |
F273L |
probably benign |
Het |
| Or2f1b |
T |
A |
6: 42,739,394 (GRCm39) |
M136K |
probably damaging |
Het |
| Pglyrp4 |
T |
C |
3: 90,642,910 (GRCm39) |
F263L |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,906,608 (GRCm39) |
T1148S |
possibly damaging |
Het |
| Prrc2b |
T |
C |
2: 32,081,513 (GRCm39) |
|
probably benign |
Het |
| Rbm28 |
G |
T |
6: 29,138,617 (GRCm39) |
D398E |
possibly damaging |
Het |
| Rnf220 |
A |
G |
4: 117,130,524 (GRCm39) |
F234L |
probably benign |
Het |
| Sele |
T |
C |
1: 163,880,662 (GRCm39) |
S415P |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,094,821 (GRCm39) |
L79P |
probably damaging |
Het |
| Slc35f4 |
C |
T |
14: 49,543,703 (GRCm39) |
A148T |
probably damaging |
Het |
| Slc6a20a |
G |
A |
9: 123,489,684 (GRCm39) |
P120S |
possibly damaging |
Het |
| Slc8a2 |
A |
G |
7: 15,891,081 (GRCm39) |
E701G |
possibly damaging |
Het |
| Slco1a1 |
T |
A |
6: 141,885,765 (GRCm39) |
I87F |
possibly damaging |
Het |
| Srebf1 |
T |
G |
11: 60,093,650 (GRCm39) |
D739A |
probably damaging |
Het |
| Thg1l |
A |
G |
11: 45,841,055 (GRCm39) |
Y175H |
probably benign |
Het |
| Traf3ip2 |
G |
A |
10: 39,530,475 (GRCm39) |
V540M |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,753,329 (GRCm39) |
D644G |
probably damaging |
Het |
| Zbtb1 |
A |
T |
12: 76,433,371 (GRCm39) |
K452N |
probably damaging |
Het |
| Zfhx2 |
C |
T |
14: 55,300,351 (GRCm39) |
G2467R |
probably damaging |
Het |
| Zfp334 |
A |
T |
2: 165,223,643 (GRCm39) |
Y133* |
probably null |
Het |
|
| Other mutations in Hsp90b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2015-04-16 |
Incidental Mutation