Incidental Mutation 'IGL01671:Hsp90b1'
ID |
103479 |
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 # |
IGL01671
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
86526705-86541308 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86540189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 41
(G41S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020238]
[ENSMUST00000061458]
[ENSMUST00000075632]
[ENSMUST00000217747]
|
AlphaFold |
P08113 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020238
AA Change: G41S
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000020238 Gene: ENSMUSG00000020048 AA Change: G41S
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 |
probably benign
Transcript: ENSMUST00000061458
|
SMART Domains |
Protein: ENSMUSP00000062844 Gene: ENSMUSG00000044937
Domain | Start | End | E-Value | Type |
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
low complexity region
|
307 |
315 |
N/A |
INTRINSIC |
Blast:AAA
|
336 |
401 |
9e-8 |
BLAST |
SCOP:d1jpna2
|
338 |
370 |
1e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075632
|
SMART Domains |
Protein: ENSMUSP00000075059 Gene: ENSMUSG00000044937
Domain | Start | End | E-Value | Type |
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
low complexity region
|
307 |
315 |
N/A |
INTRINSIC |
Pfam:NACHT
|
337 |
515 |
5.4e-10 |
PFAM |
SCOP:d1qqea_
|
805 |
1028 |
2e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129178
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146897
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174945
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217747
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdc7 |
C |
T |
5: 107,131,111 (GRCm39) |
P529S |
probably damaging |
Het |
Defb45 |
T |
C |
2: 152,435,331 (GRCm39) |
K26E |
probably benign |
Het |
Dnajb8 |
T |
C |
6: 88,199,902 (GRCm39) |
L146S |
probably benign |
Het |
Egln1 |
T |
C |
8: 125,637,454 (GRCm39) |
D399G |
probably benign |
Het |
Ephb1 |
A |
T |
9: 101,873,986 (GRCm39) |
C563S |
probably damaging |
Het |
Gad2 |
T |
A |
2: 22,513,711 (GRCm39) |
Y49* |
probably null |
Het |
Gga2 |
A |
G |
7: 121,594,079 (GRCm39) |
S470P |
probably benign |
Het |
Gm21276 |
G |
T |
7: 38,464,151 (GRCm39) |
|
noncoding transcript |
Het |
Gm3115 |
G |
A |
14: 4,084,189 (GRCm38) |
C9Y |
probably benign |
Het |
H2-M1 |
T |
C |
17: 36,981,330 (GRCm39) |
E235G |
probably damaging |
Het |
Hjv |
T |
C |
3: 96,435,807 (GRCm39) |
V355A |
probably damaging |
Het |
Mccc1 |
T |
C |
3: 36,018,609 (GRCm39) |
D575G |
probably benign |
Het |
Metap2 |
T |
C |
10: 93,707,340 (GRCm39) |
|
probably benign |
Het |
Myh7 |
T |
C |
14: 55,210,381 (GRCm39) |
T1775A |
probably damaging |
Het |
Or2aj5 |
A |
G |
16: 19,424,671 (GRCm39) |
I249T |
probably benign |
Het |
Or5b3 |
T |
A |
19: 13,388,255 (GRCm39) |
F107L |
probably benign |
Het |
Or8g21 |
A |
G |
9: 38,906,149 (GRCm39) |
V194A |
probably benign |
Het |
Pak5 |
T |
C |
2: 135,958,293 (GRCm39) |
D265G |
possibly damaging |
Het |
Pex1 |
A |
G |
5: 3,674,088 (GRCm39) |
I793V |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,485,609 (GRCm39) |
I479V |
possibly damaging |
Het |
Rhcg |
A |
C |
7: 79,248,299 (GRCm39) |
I435S |
probably benign |
Het |
Slc9c1 |
A |
T |
16: 45,380,678 (GRCm39) |
T535S |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,805,141 (GRCm39) |
D279G |
possibly damaging |
Het |
Wdr83 |
T |
C |
8: 85,802,448 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
2014-01-21 |