Incidental Mutation 'R8336:Hsp90b1'
ID |
644627 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
067729-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8336 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
86526705-86541308 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to G
at 86526968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glutamine
at position 803
(*803Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020238]
[ENSMUST00000129413]
|
AlphaFold |
P08113 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020238
AA Change: *803Q
|
SMART Domains |
Protein: ENSMUSP00000020238 Gene: ENSMUSG00000020048 AA Change: *803Q
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: 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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 |
4930578I06Rik |
T |
C |
14: 64,223,545 (GRCm39) |
K77R |
probably benign |
Het |
Acta1 |
C |
T |
8: 124,619,310 (GRCm39) |
E261K |
possibly damaging |
Het |
Adamts19 |
A |
T |
18: 59,140,444 (GRCm39) |
I848L |
possibly damaging |
Het |
Adck1 |
C |
A |
12: 88,335,249 (GRCm39) |
T45K |
probably damaging |
Het |
Agl |
A |
G |
3: 116,566,495 (GRCm39) |
F291S |
|
Het |
BC048671 |
T |
C |
6: 90,279,849 (GRCm39) |
V24A |
probably benign |
Het |
Brsk2 |
C |
T |
7: 141,538,211 (GRCm39) |
A119V |
probably damaging |
Het |
Cacnb1 |
A |
G |
11: 97,894,119 (GRCm39) |
Y468H |
probably benign |
Het |
Cep89 |
A |
T |
7: 35,127,141 (GRCm39) |
K501* |
probably null |
Het |
Ces2a |
T |
A |
8: 105,465,665 (GRCm39) |
F306I |
probably damaging |
Het |
Col6a4 |
T |
A |
9: 105,952,528 (GRCm39) |
I457F |
possibly damaging |
Het |
Cts7 |
A |
G |
13: 61,504,723 (GRCm39) |
|
probably null |
Het |
Dnah12 |
C |
A |
14: 26,432,220 (GRCm39) |
T444K |
probably benign |
Het |
Dusp5 |
T |
C |
19: 53,529,406 (GRCm39) |
S270P |
probably damaging |
Het |
Eppk1 |
T |
TCAC |
15: 75,992,152 (GRCm39) |
|
probably null |
Het |
Esam |
T |
A |
9: 37,448,362 (GRCm39) |
I267K |
probably benign |
Het |
Fastkd1 |
A |
G |
2: 69,542,489 (GRCm39) |
V106A |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,821,099 (GRCm39) |
T5611A |
possibly damaging |
Het |
Gcc2 |
A |
G |
10: 58,108,189 (GRCm39) |
D933G |
probably damaging |
Het |
Gm16506 |
T |
A |
14: 43,964,825 (GRCm39) |
H39L |
|
Het |
Gm5145 |
A |
T |
17: 20,790,687 (GRCm39) |
N22Y |
probably damaging |
Het |
Gm6465 |
A |
T |
5: 11,896,780 (GRCm39) |
R50W |
probably damaging |
Het |
Hivep1 |
C |
A |
13: 42,309,405 (GRCm39) |
D548E |
probably benign |
Het |
Hnrnpl |
C |
A |
7: 28,513,462 (GRCm39) |
S178R |
possibly damaging |
Het |
Kdm5a |
A |
G |
6: 120,396,407 (GRCm39) |
N1088S |
probably benign |
Het |
Klk1b11 |
C |
T |
7: 43,425,865 (GRCm39) |
|
probably benign |
Het |
Kmt5b |
T |
C |
19: 3,865,531 (GRCm39) |
I865T |
probably damaging |
Het |
Map3k10 |
C |
A |
7: 27,372,884 (GRCm39) |
R189L |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,603,430 (GRCm39) |
S1040P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,163,902 (GRCm39) |
S2019G |
probably damaging |
Het |
Nfrkb |
T |
C |
9: 31,314,815 (GRCm39) |
V545A |
possibly damaging |
Het |
Nkd2 |
G |
T |
13: 73,969,192 (GRCm39) |
P425T |
probably damaging |
Het |
Or5h26 |
T |
C |
16: 58,987,918 (GRCm39) |
Y196C |
possibly damaging |
Het |
Ostm1 |
A |
G |
10: 42,572,334 (GRCm39) |
Y239C |
probably damaging |
Het |
Pabpc1l |
A |
G |
2: 163,874,204 (GRCm39) |
D203G |
probably benign |
Het |
Pcdhb21 |
T |
A |
18: 37,648,942 (GRCm39) |
Y690* |
probably null |
Het |
Pla2r1 |
C |
A |
2: 60,253,027 (GRCm39) |
V1355F |
possibly damaging |
Het |
Pms1 |
C |
T |
1: 53,245,985 (GRCm39) |
S518N |
probably benign |
Het |
Rab44 |
A |
T |
17: 29,367,249 (GRCm39) |
*726C |
probably null |
Het |
Rin1 |
A |
T |
19: 5,105,013 (GRCm39) |
H691L |
possibly damaging |
Het |
Slc30a9 |
T |
A |
5: 67,473,058 (GRCm39) |
Y47* |
probably null |
Het |
Sp9 |
T |
A |
2: 73,104,796 (GRCm39) |
V450D |
possibly damaging |
Het |
Sstr3 |
T |
C |
15: 78,424,693 (GRCm39) |
N18S |
probably damaging |
Het |
Sugct |
T |
A |
13: 17,032,504 (GRCm39) |
Y416F |
probably benign |
Het |
Tcf3 |
T |
C |
10: 80,257,000 (GRCm39) |
T75A |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,746,808 (GRCm39) |
V999A |
probably damaging |
Het |
Tfap2c |
T |
A |
2: 172,399,112 (GRCm39) |
L453* |
probably null |
Het |
Trip12 |
A |
T |
1: 84,743,762 (GRCm39) |
M515K |
probably benign |
Het |
Vstm2a |
G |
A |
11: 16,207,801 (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 |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCACAGCCACTCAGATTATG -3'
(R):5'- TGACTACACCTCACTAGCATTAGG -3'
Sequencing Primer
(F):5'- ACAGCCACTCAGATTATGTTCTG -3'
(R):5'- CTTGCCAATAAGCAAGTACAA -3'
|
Posted On |
2020-09-02 |