Incidental Mutation 'R4033:Hsp90aa1'
| ID |
313597 |
| 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 |
| MMRRC Submission |
040961-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4033 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
110690605-110702728 bp(-) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 110695680 bp (GRCm38)
|
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
G |
T |
1: 59,196,241 (GRCm38) |
S761R |
probably benign |
Het |
| Ankrd63 |
C |
A |
2: 118,702,931 (GRCm38) |
|
probably benign |
Het |
| Brf1 |
G |
A |
12: 112,979,732 (GRCm38) |
T166M |
probably damaging |
Het |
| C530008M17Rik |
A |
G |
5: 76,858,465 (GRCm38) |
N891S |
unknown |
Het |
| Car9 |
T |
C |
4: 43,508,624 (GRCm38) |
V131A |
possibly damaging |
Het |
| Cerk |
T |
G |
15: 86,155,027 (GRCm38) |
H221P |
possibly damaging |
Het |
| Cfap69 |
A |
T |
5: 5,604,389 (GRCm38) |
I458N |
possibly damaging |
Het |
| Chil4 |
T |
C |
3: 106,214,449 (GRCm38) |
Y28C |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,851,431 (GRCm38) |
T165A |
possibly damaging |
Het |
| Erich6b |
A |
T |
14: 75,658,767 (GRCm38) |
N31I |
probably benign |
Het |
| Fgf17 |
G |
T |
14: 70,641,526 (GRCm38) |
|
probably benign |
Het |
| Fhit |
A |
T |
14: 10,751,671 (GRCm38) |
|
probably benign |
Het |
| Fnip1 |
A |
T |
11: 54,502,471 (GRCm38) |
I578L |
probably benign |
Het |
| Gm17641 |
C |
T |
3: 68,869,813 (GRCm38) |
R36W |
probably damaging |
Het |
| Gm5346 |
C |
G |
8: 43,626,673 (GRCm38) |
M171I |
probably benign |
Het |
| Gprin2 |
A |
T |
14: 34,194,678 (GRCm38) |
D378E |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,573,424 (GRCm38) |
M1L |
probably benign |
Het |
| Ifih1 |
G |
A |
2: 62,635,190 (GRCm38) |
S212L |
probably benign |
Het |
| Iqck |
T |
C |
7: 118,941,604 (GRCm38) |
I242T |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,989,810 (GRCm38) |
D2525N |
possibly damaging |
Het |
| Lsm14b |
A |
G |
2: 180,031,516 (GRCm38) |
K195E |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,481,176 (GRCm38) |
V326I |
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,863,534 (GRCm38) |
N76K |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,599,989 (GRCm38) |
|
probably benign |
Het |
| Nop14 |
T |
C |
5: 34,650,517 (GRCm38) |
D367G |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 89,533,001 (GRCm38) |
C721R |
probably damaging |
Het |
| Olfr558 |
C |
T |
7: 102,709,490 (GRCm38) |
T77I |
probably damaging |
Het |
| Prr27 |
G |
T |
5: 87,843,305 (GRCm38) |
E259* |
probably null |
Het |
| Psmg3 |
G |
A |
5: 139,826,331 (GRCm38) |
P5S |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,003,225 (GRCm38) |
T1134A |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,159,669 (GRCm38) |
N120S |
probably damaging |
Het |
| Reg3b |
A |
T |
6: 78,373,209 (GRCm38) |
K157N |
possibly damaging |
Het |
| Rlf |
T |
G |
4: 121,147,343 (GRCm38) |
Q1480P |
probably damaging |
Het |
| Slc16a12 |
A |
T |
19: 34,675,167 (GRCm38) |
L193Q |
probably damaging |
Het |
| Smo |
G |
A |
6: 29,759,918 (GRCm38) |
R672H |
probably damaging |
Het |
| Smyd4 |
A |
G |
11: 75,349,754 (GRCm38) |
D25G |
probably benign |
Het |
| Sorbs2 |
C |
G |
8: 45,775,595 (GRCm38) |
D264E |
probably damaging |
Het |
| Tctn3 |
G |
T |
19: 40,597,323 (GRCm38) |
Q593K |
probably benign |
Het |
| Tdrd9 |
A |
T |
12: 111,992,539 (GRCm38) |
I136L |
possibly damaging |
Het |
| Tshz3 |
G |
A |
7: 36,770,584 (GRCm38) |
S666N |
possibly damaging |
Het |
| Ubn1 |
C |
T |
16: 5,064,611 (GRCm38) |
T69M |
probably damaging |
Het |
| Unk |
A |
T |
11: 116,053,527 (GRCm38) |
H368L |
probably benign |
Het |
| Zan |
A |
T |
5: 137,437,860 (GRCm38) |
L2051* |
probably null |
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 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
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 |
110,695,680 (GRCm38) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3616:Hsp90aa1
|
UTSW |
12 |
110,695,681 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
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'- TTTCAGGGAAAGCAACGTCC -3'
(R):5'- ACATGCGCTTCGTAATTACCG -3'
Sequencing Primer
(F):5'- ATCCTCCAAGTGGTATACTCACG -3'
(R):5'- CGCATTCTGAAATGAGGTCATCC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation