Incidental Mutation 'R9004:Hsp90aa1'
| ID |
685166 |
| 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 |
068834-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
110657470-110662829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110659045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 584
(V584A)
|
| 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: V584A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
AA Change: V584A
| 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: V584A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
AA Change: V584A
| 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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,454,197 (GRCm39) |
|
probably benign |
Het |
| 2310057N15Rik |
C |
A |
16: 88,570,986 (GRCm39) |
C18F |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,841,483 (GRCm39) |
M941K |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,075,051 (GRCm39) |
I254T |
probably benign |
Het |
| Abcg8 |
C |
A |
17: 85,004,790 (GRCm39) |
T519K |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,106,378 (GRCm39) |
V1149A |
probably damaging |
Het |
| Alg10b |
A |
G |
15: 90,109,894 (GRCm39) |
Y69C |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,279,921 (GRCm39) |
D529G |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,718,276 (GRCm39) |
C1990S |
probably benign |
Het |
| BC034090 |
T |
A |
1: 155,102,138 (GRCm39) |
N42I |
possibly damaging |
Het |
| Bptf |
G |
A |
11: 106,945,713 (GRCm39) |
P2509S |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,225,662 (GRCm39) |
D1042V |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,332,883 (GRCm39) |
V216A |
possibly damaging |
Het |
| Cdr2 |
T |
C |
7: 120,557,722 (GRCm39) |
N268D |
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,453,020 (GRCm39) |
S351G |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,655,909 (GRCm39) |
C205R |
possibly damaging |
Het |
| Dalrd3 |
C |
A |
9: 108,449,430 (GRCm39) |
D454E |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,713,798 (GRCm39) |
L1622P |
unknown |
Het |
| Eif2s2 |
A |
G |
2: 154,720,404 (GRCm39) |
Y172H |
probably benign |
Het |
| Ell |
T |
A |
8: 71,031,604 (GRCm39) |
S101T |
probably damaging |
Het |
| Faf1 |
A |
G |
4: 109,698,550 (GRCm39) |
T337A |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,649,735 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
T |
C |
12: 11,305,022 (GRCm39) |
|
probably benign |
Het |
| Gfap |
A |
G |
11: 102,782,268 (GRCm39) |
I414T |
probably benign |
Het |
| Ginm1 |
A |
C |
10: 7,651,019 (GRCm39) |
V129G |
probably damaging |
Het |
| Helq |
C |
T |
5: 100,926,598 (GRCm39) |
|
probably benign |
Het |
| Hoxb3 |
A |
G |
11: 96,237,137 (GRCm39) |
D405G |
possibly damaging |
Het |
| Iglc2 |
T |
C |
16: 19,017,425 (GRCm39) |
K59R |
probably benign |
Het |
| Inhba |
T |
C |
13: 16,201,526 (GRCm39) |
S363P |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,615,958 (GRCm39) |
K656E |
probably benign |
Het |
| Mroh4 |
G |
T |
15: 74,486,171 (GRCm39) |
L492I |
possibly damaging |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Naaladl1 |
C |
A |
19: 6,155,965 (GRCm39) |
D46E |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,910,359 (GRCm39) |
V1279I |
probably benign |
Het |
| Nceh1 |
T |
A |
3: 27,293,726 (GRCm39) |
D161E |
possibly damaging |
Het |
| Nck2 |
A |
T |
1: 43,593,510 (GRCm39) |
N239I |
|
Het |
| Nlrx1 |
C |
T |
9: 44,167,644 (GRCm39) |
R751H |
probably benign |
Het |
| Or10ag54 |
T |
A |
2: 87,099,695 (GRCm39) |
F190Y |
possibly damaging |
Het |
| Or8b46 |
A |
G |
9: 38,450,530 (GRCm39) |
Y113C |
probably benign |
Het |
| Or8g17 |
C |
A |
9: 38,930,580 (GRCm39) |
V86L |
probably benign |
Het |
| Oscar |
A |
T |
7: 3,619,040 (GRCm39) |
C13S |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,763,979 (GRCm39) |
I511F |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,764,518 (GRCm39) |
D331G |
possibly damaging |
Het |
| Pde4c |
C |
T |
8: 71,199,515 (GRCm39) |
S265L |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,662,914 (GRCm39) |
S502G |
probably benign |
Het |
| Pigl |
A |
G |
11: 62,403,779 (GRCm39) |
Y237C |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,799,421 (GRCm39) |
Q2880L |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,406,768 (GRCm39) |
H2335L |
probably benign |
Het |
| Ppp1r17 |
A |
G |
6: 56,008,513 (GRCm39) |
E151G |
probably damaging |
Het |
| Ppp1r27 |
A |
G |
11: 120,441,849 (GRCm39) |
Y11H |
probably damaging |
Het |
| Prss54 |
C |
A |
8: 96,292,137 (GRCm39) |
K147N |
possibly damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,732,687 (GRCm39) |
F526I |
possibly damaging |
Het |
| Ptprt |
T |
C |
2: 161,608,314 (GRCm39) |
N661D |
probably benign |
Het |
| Rfpl4b |
T |
C |
10: 38,697,771 (GRCm39) |
|
probably benign |
Het |
| Sdad1 |
T |
C |
5: 92,439,820 (GRCm39) |
T402A |
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,702,859 (GRCm39) |
D178G |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,178,109 (GRCm39) |
L225P |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,018 (GRCm39) |
E105V |
probably benign |
Het |
| Tlk1 |
A |
G |
2: 70,552,290 (GRCm39) |
I520T |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,152,738 (GRCm39) |
V445A |
probably benign |
Het |
| Tomm6 |
T |
C |
17: 47,998,833 (GRCm39) |
D40G |
possibly damaging |
Het |
| Traf6 |
C |
A |
2: 101,520,443 (GRCm39) |
Q164K |
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,670,284 (GRCm39) |
H150R |
|
Het |
| Ube2g2 |
A |
T |
10: 77,479,434 (GRCm39) |
M126L |
probably benign |
Het |
| Unc45b |
A |
G |
11: 82,819,515 (GRCm39) |
D496G |
probably damaging |
Het |
| Vmn1r74 |
A |
C |
7: 11,580,840 (GRCm39) |
I47L |
probably benign |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,624 (GRCm39) |
L112F |
|
Het |
| Wwc2 |
A |
C |
8: 48,373,732 (GRCm39) |
L45V |
probably damaging |
Het |
| Zfp459 |
A |
C |
13: 67,556,714 (GRCm39) |
I123R |
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 |
|
|
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 |
|
|
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 |
|
|
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'- CCACCCATATGTGCTTGTGAC -3'
(R):5'- TGATGAGTATTGTGTGCAACAGC -3'
Sequencing Primer
(F):5'- TGTGCTTGTGACAATACAGCACG -3'
(R):5'- TATTGTGTGCAACAGCTGAAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation