Incidental Mutation 'IGL02342:Hsp90b1'
ID |
289165 |
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 # |
IGL02342
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
86526705-86541308 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 86531603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020238]
[ENSMUST00000020238]
[ENSMUST00000129413]
[ENSMUST00000129413]
|
AlphaFold |
P08113 |
Predicted Effect |
probably null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000129178
|
Predicted Effect |
probably null
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 |
probably null
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: ENSMUST00000218691
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030612E09Rik |
C |
A |
10: 43,050,997 (GRCm39) |
P97Q |
probably damaging |
Het |
Abcb10 |
A |
T |
8: 124,688,773 (GRCm39) |
V501E |
probably damaging |
Het |
Acsf3 |
T |
C |
8: 123,544,237 (GRCm39) |
Y572H |
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,839,332 (GRCm39) |
|
probably null |
Het |
Alox8 |
A |
G |
11: 69,077,053 (GRCm39) |
L480P |
probably damaging |
Het |
Arhgap35 |
G |
A |
7: 16,296,305 (GRCm39) |
T920I |
probably benign |
Het |
Brca2 |
C |
A |
5: 150,466,289 (GRCm39) |
L2018M |
possibly damaging |
Het |
Brdt |
C |
A |
5: 107,490,069 (GRCm39) |
H45N |
probably damaging |
Het |
C1s2 |
A |
G |
6: 124,609,075 (GRCm39) |
F155L |
probably damaging |
Het |
Ccser2 |
A |
G |
14: 36,640,562 (GRCm39) |
|
probably benign |
Het |
Cd8a |
T |
A |
6: 71,350,723 (GRCm39) |
C63S |
probably damaging |
Het |
Clk2 |
A |
T |
3: 89,082,998 (GRCm39) |
T424S |
probably benign |
Het |
Cntn1 |
A |
G |
15: 92,143,898 (GRCm39) |
E287G |
probably benign |
Het |
Cobl |
A |
C |
11: 12,203,672 (GRCm39) |
V928G |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,557,178 (GRCm39) |
|
probably null |
Het |
Crnkl1 |
A |
T |
2: 145,766,633 (GRCm39) |
|
probably null |
Het |
Defb26 |
T |
C |
2: 152,350,121 (GRCm39) |
N53S |
possibly damaging |
Het |
Duox1 |
A |
T |
2: 122,177,793 (GRCm39) |
T1526S |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,142,246 (GRCm39) |
L1233P |
probably damaging |
Het |
Eif5a2 |
A |
G |
3: 28,847,910 (GRCm39) |
E116G |
possibly damaging |
Het |
Garin1b |
A |
G |
6: 29,323,829 (GRCm39) |
T185A |
possibly damaging |
Het |
Gdap2 |
G |
A |
3: 100,085,632 (GRCm39) |
A185T |
probably damaging |
Het |
Grm8 |
T |
C |
6: 27,363,803 (GRCm39) |
R571G |
probably benign |
Het |
Hjv |
G |
A |
3: 96,435,488 (GRCm39) |
D249N |
possibly damaging |
Het |
Ift70a1 |
G |
T |
2: 75,810,976 (GRCm39) |
T369K |
probably benign |
Het |
Ighv1-75 |
T |
G |
12: 115,797,878 (GRCm39) |
|
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,650,216 (GRCm39) |
|
probably benign |
Het |
Itprid2 |
A |
G |
2: 79,490,629 (GRCm39) |
N943S |
probably benign |
Het |
Kdm4d |
A |
G |
9: 14,374,860 (GRCm39) |
W333R |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,624,533 (GRCm39) |
N1426I |
probably damaging |
Het |
Lmbrd1 |
A |
G |
1: 24,743,959 (GRCm39) |
Y119C |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 77,172,976 (GRCm39) |
Y884C |
probably damaging |
Het |
Naip6 |
G |
T |
13: 100,439,748 (GRCm39) |
P340T |
possibly damaging |
Het |
Nfkbib |
G |
T |
7: 28,461,528 (GRCm39) |
H70N |
probably damaging |
Het |
Nol4 |
A |
T |
18: 22,903,926 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
T |
11: 58,891,914 (GRCm39) |
A6873T |
probably benign |
Het |
Or2ag1 |
A |
G |
7: 106,313,232 (GRCm39) |
S219P |
probably benign |
Het |
Or51b4 |
T |
A |
7: 103,530,587 (GRCm39) |
I288F |
probably benign |
Het |
Or6x1 |
T |
A |
9: 40,098,823 (GRCm39) |
N137K |
probably benign |
Het |
Paqr6 |
A |
G |
3: 88,273,491 (GRCm39) |
Y136C |
probably damaging |
Het |
Pcdh18 |
T |
A |
3: 49,710,493 (GRCm39) |
D274V |
probably damaging |
Het |
Phip |
A |
G |
9: 82,768,745 (GRCm39) |
Y1196H |
probably damaging |
Het |
Prc1 |
T |
C |
7: 79,959,190 (GRCm39) |
L345S |
probably damaging |
Het |
Smpdl3a |
A |
G |
10: 57,685,276 (GRCm39) |
|
probably benign |
Het |
Tac1 |
G |
T |
6: 7,559,119 (GRCm39) |
|
probably null |
Het |
Tasor |
T |
A |
14: 27,198,624 (GRCm39) |
S1319T |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,636,140 (GRCm39) |
T576A |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,896,578 (GRCm39) |
D770E |
probably damaging |
Het |
Tmem117 |
T |
C |
15: 94,909,331 (GRCm39) |
V248A |
possibly damaging |
Het |
Trpm8 |
T |
C |
1: 88,255,972 (GRCm39) |
I209T |
possibly damaging |
Het |
Wrap53 |
A |
G |
11: 69,454,417 (GRCm39) |
F244L |
probably damaging |
Het |
Wrap73 |
A |
T |
4: 154,233,237 (GRCm39) |
Q137L |
probably benign |
Het |
Zfhx4 |
A |
T |
3: 5,467,434 (GRCm39) |
T2531S |
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 |
|
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 |
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 |