Incidental Mutation 'R9024:Hsp90b1'
| ID |
686433 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9024 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
86526705-86541308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86541174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 16
(F16L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020238]
[ENSMUST00000061458]
[ENSMUST00000075632]
[ENSMUST00000217747]
|
| AlphaFold |
P08113 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020238
AA Change: F16L
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048
AA Change: F16L
| 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 |
probably benign
Transcript: ENSMUST00000217747
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| 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 |
|---|
| 4930579F01Rik |
C |
A |
3: 137,891,923 (GRCm39) |
A16S |
unknown |
Het |
| Aldh3b1 |
T |
A |
19: 3,968,155 (GRCm39) |
I335F |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,475,025 (GRCm39) |
Y650N |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,789,416 (GRCm39) |
V1524A |
possibly damaging |
Het |
| Ccin |
A |
G |
4: 43,983,562 (GRCm39) |
|
probably benign |
Het |
| Cdk15 |
A |
T |
1: 59,326,957 (GRCm39) |
I213F |
probably damaging |
Het |
| Chfr |
G |
T |
5: 110,306,698 (GRCm39) |
S481I |
probably benign |
Het |
| Coro2a |
T |
C |
4: 46,542,323 (GRCm39) |
D350G |
probably benign |
Het |
| Ctps1 |
C |
A |
4: 120,406,707 (GRCm39) |
E350* |
probably null |
Het |
| Dctn4 |
G |
A |
18: 60,678,894 (GRCm39) |
|
probably null |
Het |
| Epha4 |
C |
A |
1: 77,365,169 (GRCm39) |
R610L |
possibly damaging |
Het |
| Esp4 |
A |
T |
17: 40,911,102 (GRCm39) |
M1L |
unknown |
Het |
| Fads3 |
T |
C |
19: 10,033,839 (GRCm39) |
V408A |
probably damaging |
Het |
| Gm19402 |
T |
A |
10: 77,525,805 (GRCm39) |
K263* |
probably null |
Het |
| Gm26657 |
G |
T |
4: 56,740,769 (GRCm39) |
|
probably benign |
Het |
| Hsdl1 |
A |
G |
8: 120,290,839 (GRCm39) |
V311A |
probably benign |
Het |
| Icmt |
T |
C |
4: 152,385,161 (GRCm39) |
C208R |
probably damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,643,943 (GRCm39) |
|
probably null |
Het |
| Kif21a |
T |
A |
15: 90,821,399 (GRCm39) |
K1465* |
probably null |
Het |
| Klhl9 |
A |
T |
4: 88,639,999 (GRCm39) |
F81I |
probably damaging |
Het |
| Kynu |
A |
G |
2: 43,490,807 (GRCm39) |
H170R |
possibly damaging |
Het |
| Mmp12 |
A |
G |
9: 7,355,444 (GRCm39) |
Y397C |
probably damaging |
Het |
| Mpped2 |
T |
C |
2: 106,614,043 (GRCm39) |
F126L |
probably benign |
Het |
| Muc2 |
C |
T |
7: 141,287,936 (GRCm39) |
P236S |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,793,295 (GRCm39) |
T1291A |
possibly damaging |
Het |
| Myom2 |
T |
C |
8: 15,113,936 (GRCm39) |
L28P |
probably damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,328,648 (GRCm39) |
*924W |
probably null |
Het |
| Nrip1 |
G |
T |
16: 76,088,388 (GRCm39) |
Y1056* |
probably null |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Oxr1 |
A |
G |
15: 41,694,518 (GRCm39) |
Y20C |
probably damaging |
Het |
| P2ry2 |
T |
C |
7: 100,647,229 (GRCm39) |
T359A |
probably damaging |
Het |
| Paxbp1 |
G |
A |
16: 90,840,963 (GRCm39) |
R94C |
possibly damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,783,623 (GRCm39) |
Y569C |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,592,975 (GRCm39) |
T1713A |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,370,176 (GRCm39) |
S56G |
probably benign |
Het |
| Plekhg5 |
T |
C |
4: 152,197,118 (GRCm39) |
I801T |
possibly damaging |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Pogz |
A |
T |
3: 94,785,543 (GRCm39) |
N833Y |
probably damaging |
Het |
| Polk |
G |
T |
13: 96,623,340 (GRCm39) |
H501N |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,874,567 (GRCm39) |
N1043S |
probably damaging |
Het |
| Rad18 |
A |
T |
6: 112,626,562 (GRCm39) |
C448S |
probably benign |
Het |
| Rhof |
T |
A |
5: 123,269,963 (GRCm39) |
K65* |
probably null |
Het |
| Rpa2 |
T |
C |
4: 132,499,153 (GRCm39) |
V74A |
probably damaging |
Het |
| Smarcc1 |
T |
C |
9: 110,015,001 (GRCm39) |
M522T |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,769 (GRCm39) |
S92P |
probably benign |
Het |
| Srrt |
C |
A |
5: 137,301,291 (GRCm39) |
R45L |
unknown |
Het |
| Tmem233 |
T |
C |
5: 116,221,057 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tubd1 |
T |
G |
11: 86,445,991 (GRCm39) |
H210Q |
possibly damaging |
Het |
| Usp36 |
T |
C |
11: 118,166,983 (GRCm39) |
N298S |
possibly damaging |
Het |
| Vmn2r63 |
T |
G |
7: 42,577,874 (GRCm39) |
R221S |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,923,470 (GRCm39) |
I3782V |
probably damaging |
Het |
| Zfp184 |
T |
A |
13: 22,143,128 (GRCm39) |
I278N |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCAGGGAAAGCATCATC -3'
(R):5'- TCCATTGGGTGCAGAGAGTG -3'
Sequencing Primer
(F):5'- ATCACCCAAGTCTCCTTCGAGG -3'
(R):5'- TGAAAAGCGGCCCGACC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation