Incidental Mutation 'R3616:Hsp90aa1'
| ID |
268407 |
| 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 |
040673-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3616 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
110657470-110662829 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 110662114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021698]
[ENSMUST00000094361]
[ENSMUST00000124156]
[ENSMUST00000149189]
[ENSMUST00000155242]
|
| AlphaFold |
P07901 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021698
AA Change: M1L
|
| SMART Domains |
Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
Pfam:HSP90
|
196 |
733 |
6.7e-272 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000094361
AA Change: M1L
|
| SMART Domains |
Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
Pfam:HSP90
|
196 |
728 |
2e-245 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124156
AA Change: M1L
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121138
Gene: ENSMUSG00000021270
AA Change: M1L
| 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
AA Change: M1L
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114201
Gene: ENSMUSG00000021270
AA Change: M1L
| 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
AA Change: M1L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000118189
Gene: ENSMUSG00000021270
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.5676 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (29/29) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,535,257 (GRCm39) |
T818A |
probably benign |
Het |
| Aasdh |
A |
G |
5: 77,036,629 (GRCm39) |
V304A |
probably benign |
Het |
| Angptl3 |
G |
A |
4: 98,922,702 (GRCm39) |
A248T |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,215,391 (GRCm39) |
C112S |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,967,368 (GRCm39) |
I549N |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,801,562 (GRCm39) |
D161N |
possibly damaging |
Het |
| Col28a1 |
A |
G |
6: 8,014,942 (GRCm39) |
V821A |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 31,037,105 (GRCm39) |
L247P |
possibly damaging |
Het |
| Dpysl2 |
T |
A |
14: 67,071,819 (GRCm39) |
H107L |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,757,426 (GRCm39) |
L869S |
probably damaging |
Het |
| Efs |
T |
C |
14: 55,157,552 (GRCm39) |
Y160C |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,652,306 (GRCm39) |
N1197Y |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam184b |
A |
G |
5: 45,740,157 (GRCm39) |
V343A |
possibly damaging |
Het |
| Fbxw26 |
A |
T |
9: 109,572,828 (GRCm39) |
Y105* |
probably null |
Het |
| Fiz1 |
A |
G |
7: 5,011,171 (GRCm39) |
L449P |
probably benign |
Het |
| Foxi2 |
T |
A |
7: 135,012,180 (GRCm39) |
C23S |
possibly damaging |
Het |
| Gdf2 |
G |
A |
14: 33,666,914 (GRCm39) |
R212Q |
probably damaging |
Het |
| Gm5105 |
C |
A |
3: 137,755,449 (GRCm39) |
A46S |
unknown |
Het |
| Grik5 |
C |
T |
7: 24,721,996 (GRCm39) |
A581T |
probably benign |
Het |
| Gse1 |
C |
G |
8: 121,299,481 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,346,740 (GRCm39) |
|
probably benign |
Het |
| Krt25 |
A |
C |
11: 99,208,124 (GRCm39) |
V368G |
possibly damaging |
Het |
| Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,126,896 (GRCm39) |
K417E |
probably damaging |
Het |
| Miip |
A |
G |
4: 147,950,371 (GRCm39) |
M75T |
probably benign |
Het |
| Nlrp10 |
A |
G |
7: 108,523,683 (GRCm39) |
F599S |
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,289,205 (GRCm39) |
M436L |
probably benign |
Het |
| Or4b13 |
T |
C |
2: 90,082,753 (GRCm39) |
E193G |
possibly damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,581,058 (GRCm39) |
S57F |
probably damaging |
Het |
| Pard6b |
T |
C |
2: 167,929,259 (GRCm39) |
|
probably benign |
Het |
| Pla2g2e |
G |
A |
4: 138,607,685 (GRCm39) |
V22I |
probably benign |
Het |
| Plekhd1 |
A |
G |
12: 80,764,044 (GRCm39) |
E202G |
probably damaging |
Het |
| Prss21 |
A |
G |
17: 24,091,805 (GRCm39) |
T258A |
probably benign |
Het |
| Prss34 |
A |
G |
17: 25,517,820 (GRCm39) |
E65G |
probably benign |
Het |
| Psap |
A |
G |
10: 60,130,383 (GRCm39) |
N149S |
probably benign |
Het |
| Ptprf |
C |
T |
4: 118,095,080 (GRCm39) |
A275T |
probably benign |
Het |
| Sem1 |
A |
G |
6: 6,578,520 (GRCm39) |
L12P |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,571,155 (GRCm39) |
Y4H |
probably damaging |
Het |
| Sh3bp4 |
G |
T |
1: 89,065,427 (GRCm39) |
R7L |
probably damaging |
Het |
| Slc16a1 |
T |
A |
3: 104,560,886 (GRCm39) |
L397Q |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,243,758 (GRCm39) |
S10G |
possibly damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Spata31e5 |
T |
C |
1: 28,815,656 (GRCm39) |
D792G |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,864 (GRCm39) |
N399S |
probably benign |
Het |
| Tas2r102 |
C |
T |
6: 132,739,781 (GRCm39) |
Q230* |
probably null |
Het |
| Tdo2 |
A |
G |
3: 81,882,735 (GRCm39) |
Y13H |
possibly damaging |
Het |
| Tmem231 |
C |
T |
8: 112,644,945 (GRCm39) |
R187H |
possibly damaging |
Het |
| Tmem30b |
A |
G |
12: 73,592,353 (GRCm39) |
M254T |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,893,318 (GRCm39) |
G1057R |
probably damaging |
Het |
| Tusc3 |
A |
T |
8: 39,617,879 (GRCm39) |
K347N |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
| Vash2 |
T |
C |
1: 190,702,616 (GRCm39) |
Y117C |
probably damaging |
Het |
| Vrk2 |
A |
G |
11: 26,439,866 (GRCm39) |
I235T |
possibly damaging |
Het |
| Wdr20 |
A |
G |
12: 110,760,373 (GRCm39) |
T420A |
probably benign |
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 |
|
|
R2364:Hsp90aa1
|
UTSW |
12 |
110,659,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- TTTCAGGGAAAGCAACGTCC -3'
(R):5'- CATGCGCTTCGTAATTACCG -3'
Sequencing Primer
(F):5'- ATCCTCCAAGTGGTATACTCACG -3'
(R):5'- CGCATTCTGAAATGAGGTCATCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation