Incidental Mutation 'IGL00780:Hsp90ab1'
ID |
11368 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hsp90ab1
|
Ensembl Gene |
ENSMUSG00000023944 |
Gene Name |
heat shock protein 90 alpha (cytosolic), class B member 1 |
Synonyms |
Hsp90, Hsp84-1, C81438, Hsp84, Hspcb |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00780
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
45878704-45884187 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45880490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 407
(N407S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024739
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024739]
[ENSMUST00000041353]
[ENSMUST00000130406]
[ENSMUST00000165127]
[ENSMUST00000224905]
[ENSMUST00000166469]
[ENSMUST00000223987]
[ENSMUST00000163966]
[ENSMUST00000226086]
|
AlphaFold |
P11499 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024739
AA Change: N407S
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000024739 Gene: ENSMUSG00000023944 AA Change: N407S
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
HATPase_c
|
35 |
189 |
3.82e-10 |
SMART |
Pfam:HSP90
|
191 |
719 |
5.4e-246 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041353
|
SMART Domains |
Protein: ENSMUSP00000037834 Gene: ENSMUSG00000037089
Domain | Start | End | E-Value | Type |
Pfam:UAA
|
62 |
363 |
5.1e-79 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130406
|
SMART Domains |
Protein: ENSMUSP00000119678 Gene: ENSMUSG00000023944
Domain | Start | End | E-Value | Type |
SCOP:d1byqa_
|
9 |
76 |
2e-32 |
SMART |
PDB:1UYM|A
|
14 |
76 |
7e-38 |
PDB |
Blast:HATPase_c
|
35 |
76 |
3e-21 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145205
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146770
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151306
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165127
|
SMART Domains |
Protein: ENSMUSP00000126239 Gene: ENSMUSG00000023944
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
Pfam:HSP90
|
37 |
161 |
3.8e-60 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224559
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224905
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225226
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166469
|
SMART Domains |
Protein: ENSMUSP00000127338 Gene: ENSMUSG00000023944
Domain | Start | End | E-Value | Type |
Pfam:HSP90
|
4 |
189 |
1.3e-92 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223987
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163966
|
SMART Domains |
Protein: ENSMUSP00000131601 Gene: ENSMUSG00000023944
Domain | Start | End | E-Value | Type |
SCOP:d1byqa_
|
9 |
85 |
9e-40 |
SMART |
PDB:1UYM|A
|
14 |
85 |
3e-45 |
PDB |
Blast:HATPase_c
|
35 |
85 |
9e-29 |
BLAST |
low complexity region
|
93 |
107 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226086
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224341
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the heat shock protein 90 family; these proteins are involved in signal transduction, protein folding and degradation and morphological evolution. This gene encodes the constitutive form of the cytosolic 90 kDa heat-shock protein and is thought to play a role in gastric apoptosis and inflammation. Alternative splicing results in multiple transcript variants. Pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Dec 2012] PHENOTYPE: Homozygotes for a gene-trapped null mutation exhibit placental defects including failure to form a placental labyrinth and lack of expansion of allantoic blood vessels. Mutants die around mid-gestation. [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 |
Abi3bp |
A |
G |
16: 56,423,168 (GRCm39) |
D440G |
probably null |
Het |
Acvrl1 |
T |
A |
15: 101,035,248 (GRCm39) |
F258Y |
probably damaging |
Het |
Ano1 |
A |
G |
7: 144,209,367 (GRCm39) |
S278P |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,964,673 (GRCm39) |
D227G |
probably damaging |
Het |
AW146154 |
T |
C |
7: 41,129,883 (GRCm39) |
Y411C |
probably damaging |
Het |
Blnk |
T |
A |
19: 40,922,890 (GRCm39) |
K412M |
probably benign |
Het |
Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
Dach1 |
A |
T |
14: 98,138,858 (GRCm39) |
N528K |
possibly damaging |
Het |
Dag1 |
A |
T |
9: 108,086,818 (GRCm39) |
W108R |
probably damaging |
Het |
Elapor2 |
A |
G |
5: 9,472,367 (GRCm39) |
T355A |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,229,060 (GRCm39) |
T717A |
probably damaging |
Het |
Fnbp1l |
T |
C |
3: 122,342,898 (GRCm39) |
D394G |
possibly damaging |
Het |
Gaa |
T |
A |
11: 119,165,117 (GRCm39) |
|
probably null |
Het |
Gpr158 |
A |
T |
2: 21,831,629 (GRCm39) |
K910* |
probably null |
Het |
Grb14 |
G |
A |
2: 64,745,062 (GRCm39) |
P99S |
probably damaging |
Het |
Gtf2h2 |
T |
C |
13: 100,615,729 (GRCm39) |
D264G |
probably benign |
Het |
Heatr3 |
A |
G |
8: 88,897,568 (GRCm39) |
I667V |
probably benign |
Het |
Htr2a |
A |
T |
14: 74,943,645 (GRCm39) |
L408F |
possibly damaging |
Het |
Itgb5 |
G |
A |
16: 33,705,345 (GRCm39) |
V212I |
probably damaging |
Het |
Kmt2c |
G |
A |
5: 25,516,049 (GRCm39) |
T2598I |
probably benign |
Het |
Lcorl |
T |
C |
5: 45,904,637 (GRCm39) |
N137S |
probably damaging |
Het |
Lef1 |
T |
C |
3: 130,986,779 (GRCm39) |
F212L |
possibly damaging |
Het |
Map2k5 |
T |
C |
9: 63,188,359 (GRCm39) |
|
probably benign |
Het |
Med15 |
G |
A |
16: 17,471,351 (GRCm39) |
T642I |
probably damaging |
Het |
Nasp |
C |
A |
4: 116,461,196 (GRCm39) |
E274* |
probably null |
Het |
Nup210l |
A |
T |
3: 90,098,156 (GRCm39) |
|
probably benign |
Het |
Pgghg |
T |
C |
7: 140,525,264 (GRCm39) |
|
probably null |
Het |
Plpp1 |
A |
G |
13: 112,988,040 (GRCm39) |
I54M |
probably damaging |
Het |
Poldip3 |
C |
T |
15: 83,022,680 (GRCm39) |
G35R |
probably damaging |
Het |
Ppig |
A |
T |
2: 69,563,268 (GRCm39) |
E81D |
possibly damaging |
Het |
Ptpn21 |
G |
T |
12: 98,646,630 (GRCm39) |
T999K |
probably damaging |
Het |
Rad9b |
T |
C |
5: 122,482,310 (GRCm39) |
I142V |
probably benign |
Het |
Ralgps1 |
A |
T |
2: 33,163,639 (GRCm39) |
H139Q |
probably damaging |
Het |
Rdh16f2 |
T |
C |
10: 127,710,961 (GRCm39) |
|
probably null |
Het |
Sema3d |
G |
A |
5: 12,574,293 (GRCm39) |
R265Q |
probably damaging |
Het |
Tdp1 |
T |
C |
12: 99,859,907 (GRCm39) |
V198A |
possibly damaging |
Het |
Trim43c |
A |
T |
9: 88,723,909 (GRCm39) |
D145V |
probably benign |
Het |
Trpc4 |
C |
T |
3: 54,209,596 (GRCm39) |
P654S |
probably damaging |
Het |
Yy1 |
T |
G |
12: 108,781,463 (GRCm39) |
I376S |
probably damaging |
Het |
Zfp773 |
T |
A |
7: 7,136,113 (GRCm39) |
Q161L |
probably benign |
Het |
|
Other mutations in Hsp90ab1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02234:Hsp90ab1
|
APN |
17 |
45,880,661 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02275:Hsp90ab1
|
APN |
17 |
45,879,364 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL03069:Hsp90ab1
|
APN |
17 |
45,879,954 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL03104:Hsp90ab1
|
APN |
17 |
45,882,449 (GRCm39) |
missense |
probably damaging |
0.99 |
R0457:Hsp90ab1
|
UTSW |
17 |
45,879,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R0787:Hsp90ab1
|
UTSW |
17 |
45,880,425 (GRCm39) |
unclassified |
probably benign |
|
R0788:Hsp90ab1
|
UTSW |
17 |
45,880,425 (GRCm39) |
unclassified |
probably benign |
|
R0790:Hsp90ab1
|
UTSW |
17 |
45,880,425 (GRCm39) |
unclassified |
probably benign |
|
R1142:Hsp90ab1
|
UTSW |
17 |
45,879,900 (GRCm39) |
nonsense |
probably null |
|
R1738:Hsp90ab1
|
UTSW |
17 |
45,882,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R2109:Hsp90ab1
|
UTSW |
17 |
45,880,254 (GRCm39) |
missense |
probably benign |
0.32 |
R2156:Hsp90ab1
|
UTSW |
17 |
45,880,629 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2509:Hsp90ab1
|
UTSW |
17 |
45,880,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R3686:Hsp90ab1
|
UTSW |
17 |
45,880,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R3695:Hsp90ab1
|
UTSW |
17 |
45,882,403 (GRCm39) |
missense |
probably damaging |
0.98 |
R3700:Hsp90ab1
|
UTSW |
17 |
45,882,440 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4968:Hsp90ab1
|
UTSW |
17 |
45,881,962 (GRCm39) |
missense |
probably benign |
0.05 |
R5809:Hsp90ab1
|
UTSW |
17 |
45,881,575 (GRCm39) |
unclassified |
probably benign |
|
R6833:Hsp90ab1
|
UTSW |
17 |
45,881,393 (GRCm39) |
missense |
probably benign |
|
R6834:Hsp90ab1
|
UTSW |
17 |
45,881,393 (GRCm39) |
missense |
probably benign |
|
R7392:Hsp90ab1
|
UTSW |
17 |
45,879,974 (GRCm39) |
missense |
probably benign |
0.10 |
R7400:Hsp90ab1
|
UTSW |
17 |
45,880,210 (GRCm39) |
missense |
probably benign |
0.04 |
R7584:Hsp90ab1
|
UTSW |
17 |
45,881,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R7834:Hsp90ab1
|
UTSW |
17 |
45,882,091 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7851:Hsp90ab1
|
UTSW |
17 |
45,881,378 (GRCm39) |
missense |
probably benign |
0.17 |
R7977:Hsp90ab1
|
UTSW |
17 |
45,882,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R7987:Hsp90ab1
|
UTSW |
17 |
45,882,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R8115:Hsp90ab1
|
UTSW |
17 |
45,880,201 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8525:Hsp90ab1
|
UTSW |
17 |
45,880,726 (GRCm39) |
missense |
probably benign |
0.09 |
R9046:Hsp90ab1
|
UTSW |
17 |
45,879,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R9378:Hsp90ab1
|
UTSW |
17 |
45,881,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R9569:Hsp90ab1
|
UTSW |
17 |
45,879,878 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9610:Hsp90ab1
|
UTSW |
17 |
45,880,600 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9611:Hsp90ab1
|
UTSW |
17 |
45,880,600 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Posted On |
2012-12-06 |