Incidental Mutation 'R3277:Hsp90aa1'
| ID |
258285 |
| 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 # |
R3277 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,472,100 (GRCm38) |
R553G |
possibly damaging |
Het |
| Adarb2 |
A |
G |
13: 8,752,627 (GRCm38) |
N646S |
probably damaging |
Het |
| Adcy8 |
C |
T |
15: 64,699,159 (GRCm38) |
G1242S |
probably benign |
Het |
| Ano9 |
T |
A |
7: 141,104,124 (GRCm38) |
T543S |
probably damaging |
Het |
| Btnl10 |
A |
G |
11: 58,922,390 (GRCm38) |
K282E |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,169,676 (GRCm38) |
D330G |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,067,652 (GRCm38) |
A416E |
possibly damaging |
Het |
| Cdx2 |
A |
T |
5: 147,303,192 (GRCm38) |
S225T |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,911,359 (GRCm38) |
I843M |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,437,964 (GRCm38) |
|
probably null |
Het |
| Cyp4f18 |
T |
C |
8: 71,993,200 (GRCm38) |
D317G |
possibly damaging |
Het |
| Dennd4a |
G |
T |
9: 64,888,993 (GRCm38) |
R767L |
probably damaging |
Het |
| Dgkb |
G |
A |
12: 38,084,217 (GRCm38) |
V41M |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,340,116 (GRCm38) |
Y1206H |
probably damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,972,211 (GRCm38) |
|
probably null |
Het |
| Fbxw2 |
T |
C |
2: 34,822,750 (GRCm38) |
T100A |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 28,091,661 (GRCm38) |
H782Q |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,214,888 (GRCm38) |
Q1455L |
unknown |
Het |
| Frrs1 |
T |
C |
3: 116,899,224 (GRCm38) |
F49S |
probably damaging |
Het |
| Gli3 |
A |
T |
13: 15,725,982 (GRCm38) |
Q1318L |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 41,288,380 (GRCm38) |
E362G |
probably benign |
Het |
| Gm7104 |
A |
T |
12: 88,285,728 (GRCm38) |
|
noncoding transcript |
Het |
| Gpatch2l |
A |
G |
12: 86,244,315 (GRCm38) |
T91A |
possibly damaging |
Het |
| Hacd4 |
T |
C |
4: 88,437,510 (GRCm38) |
H46R |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 56,153,428 (GRCm38) |
V2175A |
probably benign |
Het |
| Hey1 |
T |
C |
3: 8,664,891 (GRCm38) |
S169G |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,128,969 (GRCm38) |
T437K |
probably benign |
Het |
| Hlf |
T |
C |
11: 90,345,835 (GRCm38) |
K199E |
probably damaging |
Het |
| Hpgd |
C |
A |
8: 56,298,413 (GRCm38) |
A92E |
probably 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 |
| Kif2a |
A |
G |
13: 106,976,756 (GRCm38) |
I455T |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,692,077 (GRCm38) |
C51Y |
probably damaging |
Het |
| Lamc3 |
G |
T |
2: 31,908,625 (GRCm38) |
G448C |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,276,480 (GRCm38) |
G425D |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,359,278 (GRCm38) |
|
probably null |
Het |
| Mag |
C |
T |
7: 30,901,648 (GRCm38) |
|
probably null |
Het |
| Mdh1b |
G |
A |
1: 63,711,531 (GRCm38) |
T426M |
possibly damaging |
Het |
| Nr1h4 |
G |
A |
10: 89,478,788 (GRCm38) |
T282I |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,930,752 (GRCm38) |
E26K |
possibly damaging |
Het |
| Olfr1231 |
C |
T |
2: 89,303,218 (GRCm38) |
V125M |
possibly damaging |
Het |
| Olfr1412 |
A |
G |
1: 92,588,813 (GRCm38) |
N161S |
probably benign |
Het |
| Olfr552 |
T |
C |
7: 102,604,576 (GRCm38) |
V74A |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,735,389 (GRCm38) |
L307P |
probably damaging |
Het |
| Parp9 |
T |
C |
16: 35,948,208 (GRCm38) |
S20P |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,113,264 (GRCm38) |
F963L |
probably damaging |
Het |
| Pwp1 |
C |
T |
10: 85,882,079 (GRCm38) |
L294F |
probably benign |
Het |
| Radil |
A |
G |
5: 142,506,856 (GRCm38) |
L339P |
probably damaging |
Het |
| Raver1 |
G |
A |
9: 21,079,277 (GRCm38) |
P316S |
possibly damaging |
Het |
| Rell1 |
A |
G |
5: 63,926,987 (GRCm38) |
|
probably null |
Het |
| Rxrg |
A |
G |
1: 167,635,700 (GRCm38) |
D257G |
possibly damaging |
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 |
| Ttc23l |
A |
G |
15: 10,547,232 (GRCm38) |
F99L |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 71,629,695 (GRCm38) |
C1642G |
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,276,759 (GRCm38) |
|
probably null |
Het |
| Wrn |
A |
G |
8: 33,317,554 (GRCm38) |
M292T |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 87,782,331 (GRCm38) |
Y462H |
probably damaging |
Het |
| Zscan5b |
T |
A |
7: 6,231,346 (GRCm38) |
Y124N |
possibly damaging |
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 |
110,695,681 (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 |
|
|
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'- TTTCAGGGAAAGCAACGTCC -3'
(R):5'- CATGCGCTTCGTAATTACCG -3'
Sequencing Primer
(F):5'- ATCCTCCAAGTGGTATACTCACG -3'
(R):5'- CGCATTCTGAAATGAGGTCATCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation