Incidental Mutation 'R1331:Hsp90aa1'
ID |
156209 |
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 |
039396-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1331 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
110657470-110662829 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 110659254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 514
(K514N)
|
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: K514N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021698 Gene: ENSMUSG00000021270 AA Change: K514N
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: K514N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091921 Gene: ENSMUSG00000021270 AA Change: K514N
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 93.0%
|
Validation Efficiency |
100% (59/59) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
T |
11: 69,773,202 (GRCm39) |
|
probably null |
Het |
Acat1 |
T |
C |
9: 53,496,183 (GRCm39) |
D318G |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,791,002 (GRCm39) |
F748L |
probably benign |
Het |
Alkbh8 |
T |
A |
9: 3,347,916 (GRCm39) |
|
probably null |
Het |
Arhgef26 |
A |
G |
3: 62,247,449 (GRCm39) |
T178A |
probably benign |
Het |
Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
Ccdc180 |
T |
C |
4: 45,909,359 (GRCm39) |
V509A |
possibly damaging |
Het |
Ccdc39 |
T |
C |
3: 33,869,634 (GRCm39) |
E731G |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,374,998 (GRCm39) |
V2931A |
probably damaging |
Het |
Cobl |
A |
T |
11: 12,325,853 (GRCm39) |
N207K |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,273,584 (GRCm39) |
W718R |
unknown |
Het |
Dnah7a |
A |
G |
1: 53,507,828 (GRCm39) |
I3081T |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,615,698 (GRCm39) |
V2977A |
probably damaging |
Het |
Ephb4 |
A |
G |
5: 137,364,796 (GRCm39) |
|
probably benign |
Het |
Eri3 |
T |
C |
4: 117,422,104 (GRCm39) |
|
probably benign |
Het |
Fbxo24 |
A |
G |
5: 137,617,891 (GRCm39) |
V291A |
probably damaging |
Het |
Glra1 |
A |
C |
11: 55,405,896 (GRCm39) |
S282A |
probably benign |
Het |
Gm7589 |
C |
A |
9: 59,053,325 (GRCm39) |
|
noncoding transcript |
Het |
H6pd |
T |
C |
4: 150,066,872 (GRCm39) |
N505D |
probably benign |
Het |
Hdlbp |
T |
A |
1: 93,348,853 (GRCm39) |
N566Y |
probably damaging |
Het |
Impdh1 |
A |
T |
6: 29,206,477 (GRCm39) |
V120D |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,465,627 (GRCm39) |
T1360A |
probably benign |
Het |
Loxhd1 |
C |
T |
18: 77,490,632 (GRCm39) |
P1411S |
possibly damaging |
Het |
Lpl |
A |
G |
8: 69,349,281 (GRCm39) |
E269G |
probably damaging |
Het |
Map1a |
G |
T |
2: 121,136,701 (GRCm39) |
E2268* |
probably null |
Het |
Mark1 |
T |
C |
1: 184,660,245 (GRCm39) |
E137G |
probably damaging |
Het |
Mki67 |
A |
T |
7: 135,300,005 (GRCm39) |
S1676R |
possibly damaging |
Het |
Mogat2 |
T |
C |
7: 98,872,722 (GRCm39) |
Y154C |
possibly damaging |
Het |
Myo18a |
C |
G |
11: 77,732,405 (GRCm39) |
I859M |
probably benign |
Het |
Myo7a |
A |
G |
7: 97,756,215 (GRCm39) |
V39A |
probably benign |
Het |
Nedd4 |
T |
A |
9: 72,584,668 (GRCm39) |
I123N |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,977,754 (GRCm39) |
V1966A |
probably benign |
Het |
Or7g33 |
T |
C |
9: 19,448,842 (GRCm39) |
N128S |
probably benign |
Het |
Orc3 |
T |
G |
4: 34,599,748 (GRCm39) |
N77T |
probably benign |
Het |
Penk |
A |
G |
4: 4,134,287 (GRCm39) |
M120T |
probably benign |
Het |
Phf7 |
G |
A |
14: 30,962,362 (GRCm39) |
Q148* |
probably null |
Het |
Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
Pkhd1l1 |
C |
T |
15: 44,452,993 (GRCm39) |
R3973C |
probably damaging |
Het |
Polq |
C |
T |
16: 36,862,109 (GRCm39) |
T264M |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,203,437 (GRCm39) |
T2070S |
probably damaging |
Het |
Ralgapb |
T |
C |
2: 158,272,453 (GRCm39) |
F169S |
probably damaging |
Het |
Rapgef5 |
G |
T |
12: 117,685,084 (GRCm39) |
A278S |
probably benign |
Het |
Ripor2 |
G |
T |
13: 24,861,824 (GRCm39) |
E203* |
probably null |
Het |
Setx |
T |
C |
2: 29,069,698 (GRCm39) |
L2501P |
probably benign |
Het |
Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
Slc35b1 |
T |
A |
11: 95,276,689 (GRCm39) |
V56D |
probably damaging |
Het |
Slc45a4 |
C |
T |
15: 73,458,596 (GRCm39) |
D326N |
probably benign |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Stat4 |
T |
A |
1: 52,053,086 (GRCm39) |
V89D |
probably benign |
Het |
Tek |
T |
A |
4: 94,627,943 (GRCm39) |
|
probably benign |
Het |
Tert |
T |
A |
13: 73,796,473 (GRCm39) |
F1068Y |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,217,670 (GRCm39) |
I205K |
probably damaging |
Het |
Vmn1r212 |
A |
T |
13: 23,067,562 (GRCm39) |
I257K |
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 |
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 |
|
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'- AATACAGCACGGGGATGTCACCAG -3'
(R):5'- AGGCAAGAATGTCCAGCCTGTACC -3'
Sequencing Primer
(F):5'- CTGACTACGAGTGATGTGTAACC -3'
(R):5'- GAATGTCCAGCCTGTACCTAAGG -3'
|
Posted On |
2014-02-11 |