Incidental Mutation 'R5650:Hsp90b1'
| ID |
441377 |
| 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 |
043296-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5650 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
86526705-86541308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86529367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 310
(A310V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020238]
[ENSMUST00000129413]
|
| AlphaFold |
P08113 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020238
AA Change: A634V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048
AA Change: A634V
| 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 damaging
Transcript: ENSMUST00000129413
AA Change: A310V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122710
Gene: ENSMUSG00000020048
AA Change: A310V
| 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: ENSMUST00000218095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220419
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 96.0%
|
| 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 |
|---|
| Alms1 |
T |
C |
6: 85,597,253 (GRCm39) |
L693P |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,614,136 (GRCm39) |
T2524A |
probably damaging |
Het |
| Cdr2 |
A |
G |
7: 120,557,559 (GRCm39) |
I322T |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,758,136 (GRCm39) |
C385S |
probably damaging |
Het |
| Cercam |
C |
T |
2: 29,771,827 (GRCm39) |
S549F |
probably damaging |
Het |
| Coro1b |
C |
T |
19: 4,200,610 (GRCm39) |
T209I |
possibly damaging |
Het |
| Dlec1 |
G |
T |
9: 118,972,662 (GRCm39) |
E1462* |
probably null |
Het |
| Dlgap5 |
C |
T |
14: 47,649,196 (GRCm39) |
G166D |
probably benign |
Het |
| Ep400 |
C |
T |
5: 110,843,818 (GRCm39) |
|
probably null |
Het |
| Fam3d |
A |
T |
14: 8,357,142 (GRCm38) |
V96E |
probably damaging |
Het |
| Fgr |
T |
G |
4: 132,727,533 (GRCm39) |
V478G |
probably benign |
Het |
| Fmo9 |
T |
A |
1: 166,491,015 (GRCm39) |
I437F |
probably damaging |
Het |
| Gabrd |
A |
T |
4: 155,473,081 (GRCm39) |
V64E |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,456,051 (GRCm39) |
Y385C |
probably damaging |
Het |
| H4c4 |
A |
T |
13: 23,765,778 (GRCm39) |
N65I |
possibly damaging |
Het |
| Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
| Helz |
T |
A |
11: 107,485,972 (GRCm39) |
M127K |
probably null |
Het |
| Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
| Kif7 |
C |
T |
7: 79,360,727 (GRCm39) |
R216H |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,129,285 (GRCm39) |
I648T |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,912,031 (GRCm39) |
L1716* |
probably null |
Het |
| Lgals9 |
T |
A |
11: 78,863,980 (GRCm39) |
N55I |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,136,110 (GRCm39) |
T606S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,667,467 (GRCm39) |
|
probably null |
Het |
| Mip |
A |
T |
10: 128,061,934 (GRCm39) |
I62F |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Npepl1 |
T |
C |
2: 173,963,329 (GRCm39) |
F454L |
possibly damaging |
Het |
| Or10h28 |
A |
T |
17: 33,487,858 (GRCm39) |
E53D |
probably benign |
Het |
| Or1j21 |
T |
A |
2: 36,683,277 (GRCm39) |
S10T |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,626 (GRCm39) |
I213N |
possibly damaging |
Het |
| Or8b1b |
A |
T |
9: 38,376,023 (GRCm39) |
K229* |
probably null |
Het |
| Oxct1 |
T |
A |
15: 4,172,332 (GRCm39) |
V466D |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,144,792 (GRCm39) |
I2768F |
probably damaging |
Het |
| Pitpnm1 |
C |
A |
19: 4,153,319 (GRCm39) |
D158E |
possibly damaging |
Het |
| Plekho2 |
T |
C |
9: 65,464,018 (GRCm39) |
N277S |
probably benign |
Het |
| Rab33b |
T |
C |
3: 51,400,837 (GRCm39) |
Y104H |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,604,331 (GRCm39) |
S473G |
probably benign |
Het |
| Serpina1b |
T |
A |
12: 103,694,694 (GRCm39) |
|
probably null |
Het |
| Slc25a17 |
A |
T |
15: 81,213,377 (GRCm39) |
|
probably null |
Het |
| Slc43a2 |
T |
C |
11: 75,436,633 (GRCm39) |
C160R |
probably damaging |
Het |
| Slc7a4 |
G |
T |
16: 17,393,548 (GRCm39) |
L84M |
possibly damaging |
Het |
| Slco1a4 |
T |
A |
6: 141,755,120 (GRCm39) |
I561F |
possibly damaging |
Het |
| Sowahc |
GGGAGGAGGAGGAGGAGGAGGAGGAGGA |
GGGAGGAGGAGGAGGAGGAGGAGGA |
10: 59,059,313 (GRCm39) |
|
probably benign |
Het |
| Specc1 |
T |
C |
11: 62,008,793 (GRCm39) |
I183T |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,569 (GRCm39) |
K362E |
probably benign |
Het |
| Tcf12 |
A |
T |
9: 71,792,584 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
C |
T |
14: 50,598,658 (GRCm39) |
P215S |
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,574,072 (GRCm39) |
S198P |
probably damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,698,670 (GRCm39) |
F427S |
probably damaging |
Het |
| Wdr81 |
T |
A |
11: 75,335,574 (GRCm39) |
S1752C |
probably damaging |
Het |
| Zbtb7a |
A |
G |
10: 80,980,883 (GRCm39) |
Y359C |
probably damaging |
Het |
| Zfp37 |
T |
C |
4: 62,110,002 (GRCm39) |
Y354C |
probably damaging |
Het |
| Zmpste24 |
T |
A |
4: 120,940,074 (GRCm39) |
I191F |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATGATTCATGTAGCAGATCAAG -3'
(R):5'- TGCCAAGAAGCTTCCTGTTG -3'
Sequencing Primer
(F):5'- TCAAGAGAATAAGAGCTGGCATCTTG -3'
(R):5'- CCAAGAAGCTTCCTGTTGCTATATAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation