Incidental Mutation 'R2364:Hsp90aa1'
ID |
247281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsp90aa1
|
Ensembl Gene |
ENSMUSG00000021270 |
Gene Name |
heat shock protein 90, alpha (cytosolic), class A member 1 |
Synonyms |
Hspca, Hsp86-1, Hsp89, hsp4, Hsp90 |
MMRRC Submission |
040345-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2364 (G1)
|
Quality Score |
224 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
110657470-110662829 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 110659187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 537
(F537I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091921
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021698]
[ENSMUST00000094361]
[ENSMUST00000124156]
[ENSMUST00000149189]
[ENSMUST00000155242]
|
AlphaFold |
P07901 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021698
AA Change: F537I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021698 Gene: ENSMUSG00000021270 AA Change: F537I
Domain | Start | End | E-Value | Type |
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
Pfam:HSP90
|
196 |
733 |
6.7e-272 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094361
AA Change: F537I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091921 Gene: ENSMUSG00000021270 AA Change: F537I
Domain | Start | End | E-Value | Type |
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
Pfam:HSP90
|
196 |
728 |
2e-245 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124156
|
SMART Domains |
Protein: ENSMUSP00000121138 Gene: ENSMUSG00000021270
Domain | Start | End | E-Value | Type |
PDB:3HHU|B
|
1 |
103 |
1e-69 |
PDB |
SCOP:d1byqa_
|
11 |
103 |
5e-48 |
SMART |
Blast:HATPase_c
|
40 |
103 |
7e-39 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129005
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134967
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145255
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149189
|
SMART Domains |
Protein: ENSMUSP00000114201 Gene: ENSMUSG00000021270
Domain | Start | End | E-Value | Type |
PDB:3HHU|B
|
1 |
98 |
6e-66 |
PDB |
SCOP:d1byqa_
|
11 |
98 |
2e-45 |
SMART |
Blast:HATPase_c
|
40 |
98 |
2e-35 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155242
|
SMART Domains |
Protein: ENSMUSP00000118189 Gene: ENSMUSG00000021270
Domain | Start | End | E-Value | Type |
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] PHENOTYPE: Mice homozygous for a gene trap allele exhibit male sterility associated with arrested male meiosis and male germ cell apoptosis. Mice homozygous for a transgenic gene disruption exhibit male sterility and small testis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
A |
G |
3: 137,871,584 (GRCm39) |
S268P |
probably benign |
Het |
Adam6a |
A |
G |
12: 113,508,250 (GRCm39) |
K208E |
probably benign |
Het |
Anks6 |
A |
G |
4: 47,027,248 (GRCm39) |
S725P |
possibly damaging |
Het |
Asb3 |
A |
G |
11: 31,051,192 (GRCm39) |
I549V |
probably benign |
Het |
Blvrb |
A |
G |
7: 27,147,558 (GRCm39) |
I6V |
possibly damaging |
Het |
Cabs1 |
A |
T |
5: 88,128,092 (GRCm39) |
T248S |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,279,046 (GRCm39) |
|
probably null |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Fpr1 |
A |
T |
17: 18,097,872 (GRCm39) |
L39* |
probably null |
Het |
Gstm5 |
A |
G |
3: 107,803,687 (GRCm39) |
E40G |
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,054,640 (GRCm39) |
M97V |
possibly damaging |
Het |
Hs6st1 |
T |
C |
1: 36,107,800 (GRCm39) |
V21A |
probably benign |
Het |
Insr |
T |
C |
8: 3,224,820 (GRCm39) |
D216G |
probably benign |
Het |
Kif2a |
A |
T |
13: 107,113,344 (GRCm39) |
N428K |
probably damaging |
Het |
Mapk10 |
G |
T |
5: 103,186,507 (GRCm39) |
N38K |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,185,344 (GRCm39) |
E865G |
probably benign |
Het |
Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
Or1q1 |
T |
C |
2: 36,887,577 (GRCm39) |
Y252H |
probably damaging |
Het |
Or4k6 |
A |
T |
14: 50,475,612 (GRCm39) |
H243Q |
probably damaging |
Het |
Or5b104 |
A |
G |
19: 13,072,118 (GRCm39) |
V298A |
probably damaging |
Het |
Os9 |
T |
A |
10: 126,955,007 (GRCm39) |
K180N |
possibly damaging |
Het |
Pcdhb20 |
A |
T |
18: 37,638,991 (GRCm39) |
I506F |
probably damaging |
Het |
Pros1 |
T |
G |
16: 62,734,211 (GRCm39) |
L339R |
probably damaging |
Het |
Srp72 |
A |
G |
5: 77,132,209 (GRCm39) |
I266V |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,899,391 (GRCm39) |
V632A |
probably damaging |
Het |
Tpcn1 |
G |
T |
5: 120,691,559 (GRCm39) |
C298* |
probably null |
Het |
Ubfd1 |
T |
A |
7: 121,668,167 (GRCm39) |
D232E |
probably benign |
Het |
Vamp1 |
A |
T |
6: 125,217,306 (GRCm39) |
I117L |
probably benign |
Het |
Wwtr1 |
T |
C |
3: 57,370,024 (GRCm39) |
T364A |
possibly damaging |
Het |
Zbtb47 |
C |
T |
9: 121,596,660 (GRCm39) |
P672L |
probably damaging |
Het |
Zfp143 |
C |
A |
7: 109,682,449 (GRCm39) |
T339K |
probably damaging |
Het |
Zfp317 |
A |
G |
9: 19,559,031 (GRCm39) |
D415G |
probably benign |
Het |
Zfp628 |
A |
G |
7: 4,923,686 (GRCm39) |
H636R |
probably damaging |
Het |
|
Other mutations in Hsp90aa1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02056:Hsp90aa1
|
APN |
12 |
110,660,449 (GRCm39) |
unclassified |
probably benign |
|
IGL02243:Hsp90aa1
|
APN |
12 |
110,661,525 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02865:Hsp90aa1
|
APN |
12 |
110,659,516 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02965:Hsp90aa1
|
APN |
12 |
110,662,113 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
R0827:Hsp90aa1
|
UTSW |
12 |
110,659,129 (GRCm39) |
missense |
probably benign |
0.38 |
R1331:Hsp90aa1
|
UTSW |
12 |
110,659,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R1498:Hsp90aa1
|
UTSW |
12 |
110,662,122 (GRCm39) |
splice site |
probably null |
|
R2039:Hsp90aa1
|
UTSW |
12 |
110,660,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R2082:Hsp90aa1
|
UTSW |
12 |
110,659,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Hsp90aa1
|
UTSW |
12 |
110,660,566 (GRCm39) |
missense |
probably damaging |
0.99 |
R2169:Hsp90aa1
|
UTSW |
12 |
110,659,168 (GRCm39) |
missense |
probably damaging |
0.99 |
R2194:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2194:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R2359:Hsp90aa1
|
UTSW |
12 |
110,661,003 (GRCm39) |
critical splice donor site |
probably null |
|
R2393:Hsp90aa1
|
UTSW |
12 |
110,659,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R2398:Hsp90aa1
|
UTSW |
12 |
110,658,755 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2435:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2435:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R2924:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2924:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R2925:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2925:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R3176:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3176:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R3177:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3177:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R3276:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3276:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R3277:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3277:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R3615:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3615:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R3616:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3616:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R4033:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R4033:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4815:Hsp90aa1
|
UTSW |
12 |
110,661,660 (GRCm39) |
missense |
possibly damaging |
0.45 |
R4932:Hsp90aa1
|
UTSW |
12 |
110,660,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R5117:Hsp90aa1
|
UTSW |
12 |
110,661,698 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5555:Hsp90aa1
|
UTSW |
12 |
110,659,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R6382:Hsp90aa1
|
UTSW |
12 |
110,661,951 (GRCm39) |
critical splice donor site |
probably null |
|
R7024:Hsp90aa1
|
UTSW |
12 |
110,660,546 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7324:Hsp90aa1
|
UTSW |
12 |
110,661,659 (GRCm39) |
missense |
unknown |
|
R7447:Hsp90aa1
|
UTSW |
12 |
110,658,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7526:Hsp90aa1
|
UTSW |
12 |
110,661,728 (GRCm39) |
missense |
unknown |
|
R7732:Hsp90aa1
|
UTSW |
12 |
110,659,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8155:Hsp90aa1
|
UTSW |
12 |
110,661,828 (GRCm39) |
missense |
unknown |
|
R9004:Hsp90aa1
|
UTSW |
12 |
110,659,045 (GRCm39) |
missense |
probably damaging |
0.99 |
R9145:Hsp90aa1
|
UTSW |
12 |
110,662,684 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Hsp90aa1
|
UTSW |
12 |
110,659,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAAACTGACTACGAGTGATGTG -3'
(R):5'- GCAAGAATGTCCAGCCTGTAC -3'
Sequencing Primer
(F):5'- CTGACTACGAGTGATGTGTAACC -3'
(R):5'- GAATGTCCAGCCTGTACCTAAGG -3'
|
Posted On |
2014-10-30 |