Incidental Mutation 'R2925:Hsp90aa1'
| ID |
255716 |
| 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 |
040510-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2925 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
110657470-110662829 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 110662114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021698]
[ENSMUST00000094361]
[ENSMUST00000124156]
[ENSMUST00000149189]
[ENSMUST00000155242]
|
| AlphaFold |
P07901 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021698
AA Change: M1L
|
| SMART Domains |
Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
AA Change: M1L
| 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: M1L
|
| SMART Domains |
Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
Pfam:HSP90
|
196 |
728 |
2e-245 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124156
AA Change: M1L
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121138
Gene: ENSMUSG00000021270
AA Change: M1L
| 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
AA Change: M1L
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114201
Gene: ENSMUSG00000021270
AA Change: M1L
| 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
AA Change: M1L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000118189
Gene: ENSMUSG00000021270
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.5676 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (40/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,407,755 (GRCm39) |
T93A |
probably damaging |
Het |
| Acte1 |
A |
T |
7: 143,437,736 (GRCm39) |
R147* |
probably null |
Het |
| Akr1c21 |
A |
G |
13: 4,626,349 (GRCm39) |
|
probably null |
Het |
| Alk |
A |
G |
17: 72,910,202 (GRCm39) |
V168A |
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,727,997 (GRCm39) |
E337G |
probably damaging |
Het |
| Bltp1 |
G |
T |
3: 37,061,271 (GRCm39) |
A3327S |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,665,984 (GRCm39) |
S283P |
probably damaging |
Het |
| Ctcfl |
C |
T |
2: 172,936,489 (GRCm39) |
E628K |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,821,907 (GRCm39) |
T1856M |
probably benign |
Het |
| Defb41 |
T |
C |
1: 18,330,857 (GRCm39) |
D30G |
probably damaging |
Het |
| Dnai1 |
A |
T |
4: 41,597,919 (GRCm39) |
I74F |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,833,928 (GRCm39) |
K851* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,242,837 (GRCm39) |
C846S |
probably damaging |
Het |
| Fuom |
T |
C |
7: 139,679,862 (GRCm39) |
T110A |
probably benign |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lyz3 |
C |
T |
10: 117,070,336 (GRCm39) |
R147Q |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,981,446 (GRCm39) |
F224L |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,483,210 (GRCm39) |
R429Q |
probably benign |
Het |
| Ncapg2 |
C |
A |
12: 116,402,349 (GRCm39) |
T727K |
probably benign |
Het |
| Nek4 |
G |
A |
14: 30,673,667 (GRCm39) |
G29S |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup214 |
A |
G |
2: 31,888,015 (GRCm39) |
K15E |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,706 (GRCm39) |
Y119* |
probably null |
Het |
| Or5m11b |
T |
A |
2: 85,806,125 (GRCm39) |
C179* |
probably null |
Het |
| Or8k32 |
C |
T |
2: 86,368,891 (GRCm39) |
D121N |
probably damaging |
Het |
| Or9a4 |
T |
A |
6: 40,548,342 (GRCm39) |
S7R |
probably benign |
Het |
| P2ry13 |
G |
A |
3: 59,116,801 (GRCm39) |
H326Y |
probably benign |
Het |
| Plec |
A |
G |
15: 76,062,452 (GRCm39) |
F2563S |
probably damaging |
Het |
| Rc3h1 |
A |
G |
1: 160,782,546 (GRCm39) |
Y675C |
probably damaging |
Het |
| Samd3 |
T |
A |
10: 26,127,785 (GRCm39) |
S288T |
probably benign |
Het |
| Scaf4 |
G |
T |
16: 90,047,177 (GRCm39) |
P400Q |
unknown |
Het |
| Selplg |
T |
C |
5: 113,958,240 (GRCm39) |
D22G |
possibly damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,708,999 (GRCm39) |
|
probably benign |
Het |
| Syt3 |
T |
A |
7: 44,045,222 (GRCm39) |
V518E |
probably damaging |
Het |
| Tnks |
G |
A |
8: 35,432,815 (GRCm39) |
A2V |
unknown |
Het |
| Upk3a |
A |
G |
15: 84,902,350 (GRCm39) |
Y59C |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,245,055 (GRCm39) |
L331P |
probably damaging |
Het |
| Zbed5 |
A |
G |
5: 129,932,039 (GRCm39) |
T663A |
possibly damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,794,447 (GRCm39) |
R8Q |
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 |
|
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 |
|
|
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'- TTCAGGGAAAGCAACGTCC -3'
(R):5'- ACATGCGCTTCGTAATTACCG -3'
Sequencing Primer
(F):5'- ATCCTCCAAGTGGTATACTCACG -3'
(R):5'- CGCATTCTGAAATGAGGTCATCC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation