Incidental Mutation 'R3276:Hsp90aa1'
| ID |
258237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsp90aa1
|
| Ensembl Gene |
ENSMUSG00000021270 |
| Gene Name |
heat shock protein 90, alpha (cytosolic), class A member 1 |
| Synonyms |
hsp4, Hspca, Hsp90, Hsp86-1, Hsp89 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3276 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
110690605-110702728 bp(-) (GRCm38) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to A
at 110695681 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021698]
[ENSMUST00000094361]
[ENSMUST00000124156]
[ENSMUST00000149189]
[ENSMUST00000155242]
|
| AlphaFold |
P07901 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021698
|
| SMART Domains |
Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
| 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 null
Transcript: ENSMUST00000094361
|
| SMART Domains |
Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
Pfam:HSP90
|
196 |
728 |
2e-245 |
PFAM |
|
| Predicted Effect |
probably null
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 null
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 null
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 |
0.9488 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
96% (47/49) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
C |
T |
8: 86,506,866 (GRCm38) |
R1269H |
probably damaging |
Het |
| Ace |
A |
G |
11: 105,976,702 (GRCm38) |
E164G |
probably null |
Het |
| Als2 |
A |
T |
1: 59,170,008 (GRCm38) |
V1464E |
possibly damaging |
Het |
| Atox1 |
A |
G |
11: 55,450,553 (GRCm38) |
L52P |
possibly damaging |
Het |
| Btnl10 |
A |
G |
11: 58,922,390 (GRCm38) |
K282E |
probably benign |
Het |
| Cdkn3 |
T |
C |
14: 46,771,477 (GRCm38) |
|
probably benign |
Het |
| Col16a1 |
A |
G |
4: 130,057,999 (GRCm38) |
K72E |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,911,107 (GRCm38) |
R1565* |
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,786,230 (GRCm38) |
H36R |
probably benign |
Het |
| Cyp4b1 |
T |
C |
4: 115,625,850 (GRCm38) |
N415D |
possibly damaging |
Het |
| Dennd4a |
G |
T |
9: 64,888,993 (GRCm38) |
R767L |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,561,239 (GRCm38) |
F25L |
probably benign |
Het |
| Dhrs3 |
A |
G |
4: 144,923,940 (GRCm38) |
T219A |
probably benign |
Het |
| Dhx58 |
A |
G |
11: 100,696,979 (GRCm38) |
F584S |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 131,088,071 (GRCm38) |
T715A |
probably benign |
Het |
| Eogt |
T |
A |
6: 97,131,394 (GRCm38) |
I229F |
probably benign |
Het |
| Ern2 |
T |
C |
7: 122,180,964 (GRCm38) |
T164A |
possibly damaging |
Het |
| Fam133b |
A |
T |
5: 3,558,522 (GRCm38) |
N84I |
probably damaging |
Het |
| Fbxl21 |
T |
A |
13: 56,537,122 (GRCm38) |
Y346* |
probably null |
Het |
| Fcgbp |
C |
A |
7: 28,091,661 (GRCm38) |
H782Q |
probably damaging |
Het |
| Gm11492 |
T |
C |
11: 87,567,244 (GRCm38) |
V148A |
possibly damaging |
Het |
| Gm5592 |
A |
G |
7: 41,288,380 (GRCm38) |
E362G |
probably benign |
Het |
| Golga3 |
T |
C |
5: 110,201,998 (GRCm38) |
|
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,244,315 (GRCm38) |
T91A |
possibly damaging |
Het |
| Itgad |
C |
A |
7: 128,190,981 (GRCm38) |
H651N |
possibly damaging |
Het |
| Itgav |
A |
G |
2: 83,776,542 (GRCm38) |
D409G |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,609,639 (GRCm38) |
N1119S |
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,682,063 (GRCm38) |
I207V |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,692,077 (GRCm38) |
C51Y |
probably damaging |
Het |
| Lhfpl5 |
T |
C |
17: 28,579,946 (GRCm38) |
I143T |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 66,305,521 (GRCm38) |
K431E |
possibly damaging |
Het |
| Mag |
C |
T |
7: 30,901,648 (GRCm38) |
|
probably null |
Het |
| Maml3 |
A |
T |
3: 51,856,930 (GRCm38) |
N204K |
possibly damaging |
Het |
| Mrpl19 |
T |
C |
6: 81,964,066 (GRCm38) |
S115G |
probably damaging |
Het |
| Mthfd1l |
G |
C |
10: 4,148,025 (GRCm38) |
G954A |
probably damaging |
Het |
| Mut |
A |
G |
17: 40,958,872 (GRCm38) |
|
probably null |
Het |
| Myo19 |
A |
G |
11: 84,892,175 (GRCm38) |
I172V |
probably benign |
Het |
| Naca |
T |
C |
10: 128,040,661 (GRCm38) |
|
probably benign |
Het |
| Nfatc2 |
T |
C |
2: 168,506,994 (GRCm38) |
N638D |
possibly damaging |
Het |
| Nsun6 |
A |
G |
2: 15,009,404 (GRCm38) |
|
probably benign |
Het |
| Olfr1412 |
A |
G |
1: 92,588,813 (GRCm38) |
N161S |
probably benign |
Het |
| Olfr584 |
C |
A |
7: 103,085,750 (GRCm38) |
D72E |
probably damaging |
Het |
| Olfr913 |
T |
A |
9: 38,594,643 (GRCm38) |
C141S |
probably damaging |
Het |
| Padi6 |
A |
G |
4: 140,735,389 (GRCm38) |
L307P |
probably damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,690,232 (GRCm38) |
S57F |
probably damaging |
Het |
| Prcd |
A |
G |
11: 116,659,811 (GRCm38) |
E103G |
possibly damaging |
Het |
| Prkx |
A |
T |
X: 77,771,275 (GRCm38) |
F260I |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,753,943 (GRCm38) |
|
probably null |
Het |
| Ranbp1 |
T |
C |
16: 18,247,429 (GRCm38) |
|
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,249,366 (GRCm38) |
M1003K |
probably benign |
Het |
| Scap |
A |
T |
9: 110,374,025 (GRCm38) |
M256L |
probably benign |
Het |
| Sema4c |
C |
T |
1: 36,549,879 (GRCm38) |
R722H |
possibly damaging |
Het |
| Sgk1 |
C |
T |
10: 21,996,601 (GRCm38) |
R171W |
probably damaging |
Het |
| Spata7 |
A |
G |
12: 98,637,598 (GRCm38) |
N75D |
possibly damaging |
Het |
| Tmem120b |
T |
A |
5: 123,114,104 (GRCm38) |
I146N |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,547,232 (GRCm38) |
F99L |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 59,276,519 (GRCm38) |
C348* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,421,855 (GRCm38) |
D1777E |
probably benign |
Het |
| Unc79 |
C |
A |
12: 103,113,217 (GRCm38) |
D1880E |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,276,759 (GRCm38) |
|
probably null |
Het |
| Zswim9 |
T |
C |
7: 13,277,270 (GRCm38) |
T51A |
possibly damaging |
Het |
|
| Other mutations in Hsp90aa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02056:Hsp90aa1
|
APN |
12 |
110,694,015 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02243:Hsp90aa1
|
APN |
12 |
110,695,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02865:Hsp90aa1
|
APN |
12 |
110,693,082 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL02965:Hsp90aa1
|
APN |
12 |
110,695,679 (GRCm38) |
start codon destroyed |
probably null |
0.95 |
|
R0827:Hsp90aa1
|
UTSW |
12 |
110,692,695 (GRCm38) |
missense |
probably benign |
0.38 |
|
R1331:Hsp90aa1
|
UTSW |
12 |
110,692,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1498:Hsp90aa1
|
UTSW |
12 |
110,695,688 (GRCm38) |
splice site |
probably null |
|
|
R2039:Hsp90aa1
|
UTSW |
12 |
110,693,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2082:Hsp90aa1
|
UTSW |
12 |
110,692,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2102:Hsp90aa1
|
UTSW |
12 |
110,694,132 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2169:Hsp90aa1
|
UTSW |
12 |
110,692,734 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2194:Hsp90aa1
|
UTSW |
12 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2194:Hsp90aa1
|
UTSW |
12 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R2359:Hsp90aa1
|
UTSW |
12 |
110,694,569 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2364:Hsp90aa1
|
UTSW |
12 |
110,692,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2393:Hsp90aa1
|
UTSW |
12 |
110,693,406 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2398:Hsp90aa1
|
UTSW |
12 |
110,692,321 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2435:Hsp90aa1
|
UTSW |
12 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2435:Hsp90aa1
|
UTSW |
12 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R2924:Hsp90aa1
|
UTSW |
12 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2924:Hsp90aa1
|
UTSW |
12 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R2925:Hsp90aa1
|
UTSW |
12 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2925:Hsp90aa1
|
UTSW |
12 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3176:Hsp90aa1
|
UTSW |
12 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3176:Hsp90aa1
|
UTSW |
12 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3177:Hsp90aa1
|
UTSW |
12 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3177:Hsp90aa1
|
UTSW |
12 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3276:Hsp90aa1
|
UTSW |
12 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3277:Hsp90aa1
|
UTSW |
12 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3277:Hsp90aa1
|
UTSW |
12 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3615:Hsp90aa1
|
UTSW |
12 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3615:Hsp90aa1
|
UTSW |
12 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3616:Hsp90aa1
|
UTSW |
12 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3616:Hsp90aa1
|
UTSW |
12 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R4033:Hsp90aa1
|
UTSW |
12 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R4033:Hsp90aa1
|
UTSW |
12 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4815:Hsp90aa1
|
UTSW |
12 |
110,695,226 (GRCm38) |
missense |
possibly damaging |
0.45 |
|
R4932:Hsp90aa1
|
UTSW |
12 |
110,693,717 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5117:Hsp90aa1
|
UTSW |
12 |
110,695,264 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5555:Hsp90aa1
|
UTSW |
12 |
110,692,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6382:Hsp90aa1
|
UTSW |
12 |
110,695,517 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7024:Hsp90aa1
|
UTSW |
12 |
110,694,112 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7324:Hsp90aa1
|
UTSW |
12 |
110,695,225 (GRCm38) |
missense |
unknown |
|
|
R7447:Hsp90aa1
|
UTSW |
12 |
110,692,128 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7526:Hsp90aa1
|
UTSW |
12 |
110,695,294 (GRCm38) |
missense |
unknown |
|
|
R7732:Hsp90aa1
|
UTSW |
12 |
110,693,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8155:Hsp90aa1
|
UTSW |
12 |
110,695,394 (GRCm38) |
missense |
unknown |
|
|
R9004:Hsp90aa1
|
UTSW |
12 |
110,692,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9145:Hsp90aa1
|
UTSW |
12 |
110,696,250 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1177:Hsp90aa1
|
UTSW |
12 |
110,693,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGGGAAAGCAACGTCCAATC -3'
(R):5'- ACATGCGCTTCGTAATTACCG -3'
Sequencing Primer
(F):5'- ATCCTCCAAGTGGTATACTCACG -3'
(R):5'- CGCATTCTGAAATGAGGTCATCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation