Incidental Mutation 'IGL02124:Hsp90b1'
| ID |
280782 |
| 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 # |
IGL02124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
86526705-86541308 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 86541222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020238]
[ENSMUST00000061458]
[ENSMUST00000075632]
[ENSMUST00000217747]
|
| AlphaFold |
P08113 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020238
|
| SMART Domains |
Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
T |
C |
2: 127,028,654 (GRCm39) |
R182G |
possibly damaging |
Het |
| Casd1 |
A |
T |
6: 4,624,142 (GRCm39) |
I312F |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,413,557 (GRCm39) |
T395A |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,405,381 (GRCm39) |
I1717T |
probably benign |
Het |
| Ces1f |
A |
T |
8: 93,992,488 (GRCm39) |
V321E |
possibly damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,886,832 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,327,099 (GRCm39) |
F1416L |
unknown |
Het |
| Cplx4 |
T |
C |
18: 66,103,123 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
T |
2: 13,386,648 (GRCm39) |
I1539N |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,878,696 (GRCm39) |
T562A |
probably benign |
Het |
| Dnmt1 |
C |
A |
9: 20,819,845 (GRCm39) |
V1433F |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,680,251 (GRCm39) |
L436P |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,117,841 (GRCm39) |
I783V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,942,553 (GRCm39) |
V482E |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,734,927 (GRCm39) |
E400V |
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,374,626 (GRCm39) |
D656G |
probably damaging |
Het |
| Frem3 |
A |
C |
8: 81,339,723 (GRCm39) |
D672A |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,221,106 (GRCm39) |
M3T |
possibly damaging |
Het |
| Gm973 |
C |
T |
1: 59,621,632 (GRCm39) |
Q26* |
probably null |
Het |
| Hspg2 |
G |
A |
4: 137,246,125 (GRCm39) |
|
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,737,753 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
G |
A |
8: 111,464,256 (GRCm39) |
R295Q |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,409,369 (GRCm39) |
W1151L |
unknown |
Het |
| Myo3a |
A |
G |
2: 22,467,538 (GRCm39) |
Y264C |
probably benign |
Het |
| Or4c123 |
A |
G |
2: 89,127,407 (GRCm39) |
V69A |
probably benign |
Het |
| Or55b3 |
T |
C |
7: 102,126,742 (GRCm39) |
T112A |
possibly damaging |
Het |
| Or5p60 |
T |
A |
7: 107,724,249 (GRCm39) |
I74L |
probably benign |
Het |
| Pecam1 |
C |
T |
11: 106,581,807 (GRCm39) |
G380S |
probably damaging |
Het |
| Phf21a |
C |
T |
2: 92,179,767 (GRCm39) |
T345I |
probably damaging |
Het |
| Polg |
G |
A |
7: 79,109,485 (GRCm39) |
S444L |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,401,027 (GRCm39) |
Y486H |
probably damaging |
Het |
| Scg5 |
G |
A |
2: 113,622,382 (GRCm39) |
|
probably benign |
Het |
| Septin5 |
G |
T |
16: 18,443,579 (GRCm39) |
D123E |
probably damaging |
Het |
| Skint6 |
G |
A |
4: 112,944,993 (GRCm39) |
T483I |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,091,581 (GRCm39) |
|
probably benign |
Het |
| Tepsin |
T |
C |
11: 119,982,547 (GRCm39) |
R440G |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,959,947 (GRCm39) |
V649E |
probably damaging |
Het |
| Usf3 |
C |
A |
16: 44,040,019 (GRCm39) |
Q1500K |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,568 (GRCm39) |
S116G |
probably damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,035 (GRCm39) |
I312L |
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 |
|
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 |
|
|
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