Incidental Mutation 'R7732:Hsp90aa1'
| ID |
595928 |
| 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 |
045788-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7732 (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 110659852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 412
(V412A)
|
| 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: V412A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
AA Change: V412A
| 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: V412A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
AA Change: V412A
| 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 |
|
| Meta Mutation Damage Score |
0.4338 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (73/73) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
T |
15: 91,075,451 (GRCm39) |
S121T |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,478,041 (GRCm39) |
M69V |
|
Het |
| Ap3m2 |
G |
T |
8: 23,287,105 (GRCm39) |
D192E |
probably benign |
Het |
| Arel1 |
A |
G |
12: 84,974,663 (GRCm39) |
V493A |
probably benign |
Het |
| Arhgap27 |
T |
C |
11: 103,230,869 (GRCm39) |
H140R |
probably benign |
Het |
| Bcat2 |
C |
T |
7: 45,234,617 (GRCm39) |
T166M |
possibly damaging |
Het |
| Brd4 |
C |
A |
17: 32,440,386 (GRCm39) |
A318S |
unknown |
Het |
| Cabp4 |
T |
A |
19: 4,185,994 (GRCm39) |
T270S |
probably benign |
Het |
| Cd22 |
G |
A |
7: 30,569,482 (GRCm39) |
R545C |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,769,755 (GRCm39) |
|
probably null |
Het |
| Chst4 |
G |
A |
8: 110,756,514 (GRCm39) |
Q450* |
probably null |
Het |
| Ctsc |
G |
A |
7: 87,946,367 (GRCm39) |
R132Q |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,470,769 (GRCm39) |
D470G |
possibly damaging |
Het |
| Dcc |
C |
T |
18: 71,579,506 (GRCm39) |
G689D |
probably benign |
Het |
| Disc1 |
G |
T |
8: 125,977,714 (GRCm39) |
G779* |
probably null |
Het |
| Dock1 |
T |
G |
7: 134,346,699 (GRCm39) |
D210E |
probably benign |
Het |
| Dynlt1a |
A |
G |
17: 6,365,220 (GRCm39) |
V14A |
probably benign |
Het |
| Dynlt2a3 |
A |
G |
17: 15,187,947 (GRCm39) |
V109A |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,809,092 (GRCm39) |
D779G |
|
Het |
| Eprs1 |
A |
G |
1: 185,105,136 (GRCm39) |
H137R |
probably benign |
Het |
| Eps15l1 |
A |
C |
8: 73,134,820 (GRCm39) |
L447R |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,357,694 (GRCm39) |
|
probably null |
Het |
| Fam221a |
A |
G |
6: 49,349,563 (GRCm39) |
K43E |
probably benign |
Het |
| Fanci |
A |
G |
7: 79,062,400 (GRCm39) |
S309G |
possibly damaging |
Het |
| Fbxo48 |
T |
A |
11: 16,903,601 (GRCm39) |
W76R |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,302,459 (GRCm39) |
V32A |
probably benign |
Het |
| Foxe1 |
A |
T |
4: 46,345,287 (GRCm39) |
D365V |
unknown |
Het |
| Gabrd |
C |
T |
4: 155,470,075 (GRCm39) |
R378H |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,723,864 (GRCm39) |
S1862P |
probably damaging |
Het |
| H2al2b |
T |
C |
Y: 2,720,436 (GRCm39) |
H80R |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,474,692 (GRCm39) |
V2771A |
probably benign |
Het |
| Hoxa11 |
A |
T |
6: 52,220,415 (GRCm39) |
F289L |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,829,160 (GRCm39) |
Q77R |
probably damaging |
Het |
| Lrig1 |
C |
A |
6: 94,603,358 (GRCm39) |
M263I |
probably benign |
Het |
| Ms4a14 |
C |
T |
19: 11,279,047 (GRCm39) |
M1170I |
probably benign |
Het |
| Ndufs7 |
G |
A |
10: 80,089,618 (GRCm39) |
|
probably null |
Het |
| Nectin4 |
A |
T |
1: 171,214,246 (GRCm39) |
E467V |
probably benign |
Het |
| Or8d1b |
A |
G |
9: 38,887,560 (GRCm39) |
E196G |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,642,525 (GRCm39) |
H1302Y |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,466,841 (GRCm39) |
S241G |
probably benign |
Het |
| Pip4p1 |
C |
T |
14: 51,168,090 (GRCm39) |
G48D |
possibly damaging |
Het |
| Pom121l12 |
T |
A |
11: 14,549,843 (GRCm39) |
V183D |
probably damaging |
Het |
| Prickle2 |
T |
A |
6: 92,388,205 (GRCm39) |
E455V |
probably damaging |
Het |
| Ptpn4 |
A |
C |
1: 119,620,532 (GRCm39) |
V488G |
probably benign |
Het |
| Ranbp10 |
A |
G |
8: 106,499,723 (GRCm39) |
I502T |
probably benign |
Het |
| Raph1 |
T |
A |
1: 60,572,447 (GRCm39) |
Q40L |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,026,127 (GRCm39) |
C1056S |
probably damaging |
Het |
| Serpinb6b |
G |
A |
13: 33,152,590 (GRCm39) |
S33N |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,082 (GRCm39) |
N158S |
probably benign |
Het |
| Serping1 |
A |
T |
2: 84,600,448 (GRCm39) |
V298D |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,414,196 (GRCm39) |
H637L |
probably benign |
Het |
| Sh3rf2 |
G |
T |
18: 42,234,753 (GRCm39) |
V179L |
probably damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,680,472 (GRCm39) |
T129A |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,592,847 (GRCm39) |
Y1202F |
probably benign |
Het |
| Spsb2 |
T |
C |
6: 124,786,656 (GRCm39) |
S130P |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,913,013 (GRCm39) |
D749G |
probably benign |
Het |
| Taok3 |
A |
G |
5: 117,331,813 (GRCm39) |
E10G |
possibly damaging |
Het |
| Tbl3 |
G |
T |
17: 24,923,136 (GRCm39) |
A368D |
probably benign |
Het |
| Tdh |
T |
A |
14: 63,733,507 (GRCm39) |
H127L |
probably damaging |
Het |
| Tmem205 |
C |
A |
9: 21,838,703 (GRCm39) |
|
probably null |
Het |
| Tmem30a |
A |
C |
9: 79,687,826 (GRCm39) |
F114L |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,800,308 (GRCm39) |
K607E |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,913,254 (GRCm39) |
D1756V |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,623,969 (GRCm39) |
F312L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,656,793 (GRCm39) |
P12494L |
probably null |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,097 (GRCm39) |
R237G |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,847,798 (GRCm39) |
N2187Y |
probably damaging |
Het |
| Wdr64 |
A |
G |
1: 175,617,495 (GRCm39) |
T692A |
probably benign |
Het |
| Whamm |
A |
G |
7: 81,221,172 (GRCm39) |
N35D |
probably damaging |
Het |
| Wnt2 |
T |
C |
6: 18,023,335 (GRCm39) |
S105G |
probably damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,952 (GRCm39) |
H514Q |
probably benign |
Het |
| Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,884,589 (GRCm39) |
K888E |
possibly damaging |
Het |
| Zzz3 |
T |
C |
3: 152,154,479 (GRCm39) |
Y577H |
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 |
|
|
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'- TTCCAAGCTGAAGCACAAGC -3'
(R):5'- GACAGAAAATCCCATTCGTTGG -3'
Sequencing Primer
(F):5'- GGAAAGCCATTTATGAAGCATTAGCC -3'
(R):5'- GAGACGGGGTTTGCCTAAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation