Incidental Mutation 'IGL02243:Hsp90aa1'
| ID |
286073 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02243
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
110657470-110662829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110661525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 164
(S164P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021698]
[ENSMUST00000094361]
[ENSMUST00000124156]
[ENSMUST00000149189]
[ENSMUST00000155242]
|
| AlphaFold |
P07901 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021698
AA Change: S164P
|
| SMART Domains |
Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
AA Change: S164P
| 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: S164P
|
| SMART Domains |
Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
AA Change: S164P
| 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 damaging
Transcript: ENSMUST00000155242
AA Change: S164P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118189
Gene: ENSMUSG00000021270
AA Change: S164P
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc2 |
A |
G |
10: 80,138,175 (GRCm39) |
Y87C |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Brsk2 |
T |
C |
7: 141,547,036 (GRCm39) |
F493S |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,009,965 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
T |
C |
16: 38,162,142 (GRCm39) |
|
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,147,456 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ddx19a |
T |
G |
8: 111,703,088 (GRCm39) |
I450L |
probably benign |
Het |
| Edn2 |
G |
A |
4: 120,019,229 (GRCm39) |
|
probably null |
Het |
| Elp2 |
G |
A |
18: 24,755,663 (GRCm39) |
R470Q |
probably benign |
Het |
| Fhdc1 |
T |
G |
3: 84,381,947 (GRCm39) |
M1L |
possibly damaging |
Het |
| Gba2 |
A |
T |
4: 43,568,719 (GRCm39) |
I619N |
probably benign |
Het |
| Glce |
A |
G |
9: 61,977,422 (GRCm39) |
F154S |
probably damaging |
Het |
| Gm3476 |
A |
T |
14: 6,122,811 (GRCm38) |
C195* |
probably null |
Het |
| Iqcg |
T |
C |
16: 32,865,962 (GRCm39) |
D127G |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,879,965 (GRCm39) |
T381I |
possibly damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lhx2 |
T |
A |
2: 38,243,531 (GRCm39) |
|
probably benign |
Het |
| Lrrc2 |
A |
T |
9: 110,799,125 (GRCm39) |
N158I |
probably damaging |
Het |
| M1ap |
C |
T |
6: 83,003,269 (GRCm39) |
P389S |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,687,525 (GRCm39) |
D104V |
probably benign |
Het |
| Met |
G |
A |
6: 17,549,093 (GRCm39) |
V982I |
probably damaging |
Het |
| Msh2 |
T |
A |
17: 87,985,796 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
A |
G |
15: 77,651,682 (GRCm39) |
L1509P |
probably damaging |
Het |
| Mylk2 |
A |
G |
2: 152,762,473 (GRCm39) |
H554R |
probably damaging |
Het |
| Oxr1 |
T |
G |
15: 41,399,097 (GRCm39) |
|
probably benign |
Het |
| Pdp1 |
A |
T |
4: 11,961,873 (GRCm39) |
V146D |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,577 (GRCm39) |
M910L |
probably benign |
Het |
| Prl2a1 |
T |
C |
13: 27,991,400 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
C |
T |
11: 54,567,226 (GRCm39) |
P1136S |
probably damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,848,217 (GRCm39) |
S69C |
possibly damaging |
Het |
| Rnaseh1 |
C |
T |
12: 28,705,631 (GRCm39) |
R152W |
probably damaging |
Het |
| Sele |
T |
C |
1: 163,880,537 (GRCm39) |
V373A |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,070,584 (GRCm39) |
S314L |
possibly damaging |
Het |
| Traf4 |
T |
C |
11: 78,051,343 (GRCm39) |
E271G |
probably benign |
Het |
| Trim39 |
T |
C |
17: 36,571,276 (GRCm39) |
D494G |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation