Incidental Mutation 'IGL03069:Hsp90ab1'
ID |
409824 |
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 # |
IGL03069
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
45878704-45884187 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45879954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 159
(C159S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024739]
[ENSMUST00000041353]
[ENSMUST00000130406]
[ENSMUST00000163966]
[ENSMUST00000165127]
[ENSMUST00000224905]
[ENSMUST00000223987]
[ENSMUST00000226086]
[ENSMUST00000166469]
|
AlphaFold |
P11499 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024739
AA Change: C521S
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000024739 Gene: ENSMUSG00000023944 AA Change: C521S
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: 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 |
possibly damaging
Transcript: ENSMUST00000165127
AA Change: C159S
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000126239 Gene: ENSMUSG00000023944 AA Change: C159S
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: ENSMUST00000225226
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224341
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224559
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224905
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223987
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226086
|
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 |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
T |
G |
8: 13,607,704 (GRCm39) |
|
probably null |
Het |
Acp3 |
T |
C |
9: 104,197,204 (GRCm39) |
E145G |
possibly damaging |
Het |
Ankrd28 |
T |
A |
14: 31,477,743 (GRCm39) |
K42* |
probably null |
Het |
Arsg |
A |
T |
11: 109,454,082 (GRCm39) |
K429N |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,991,462 (GRCm39) |
T1430I |
probably damaging |
Het |
Calu |
A |
G |
6: 29,356,582 (GRCm39) |
D36G |
possibly damaging |
Het |
Ccdc18 |
T |
C |
5: 108,376,767 (GRCm39) |
S1403P |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,952,385 (GRCm39) |
|
probably benign |
Het |
Cfh |
C |
A |
1: 140,026,793 (GRCm39) |
|
probably benign |
Het |
Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
Dennd4c |
C |
A |
4: 86,692,674 (GRCm39) |
Y61* |
probably null |
Het |
Diaph3 |
A |
G |
14: 87,009,555 (GRCm39) |
S1075P |
probably damaging |
Het |
Dpp7 |
T |
A |
2: 25,245,735 (GRCm39) |
|
probably null |
Het |
Dtd1 |
T |
A |
2: 144,588,981 (GRCm39) |
|
probably benign |
Het |
Dtl |
C |
A |
1: 191,289,008 (GRCm39) |
|
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,390,457 (GRCm39) |
D344G |
probably damaging |
Het |
Kcnip2 |
T |
C |
19: 45,784,710 (GRCm39) |
|
probably benign |
Het |
Krba1 |
A |
G |
6: 48,391,483 (GRCm39) |
T755A |
possibly damaging |
Het |
L2hgdh |
C |
T |
12: 69,739,173 (GRCm39) |
V433I |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,115,127 (GRCm39) |
L1050I |
probably damaging |
Het |
Lgals4 |
A |
T |
7: 28,540,343 (GRCm39) |
I213L |
probably benign |
Het |
Lysmd1 |
A |
G |
3: 95,044,945 (GRCm39) |
I64V |
probably damaging |
Het |
Mfsd4b4 |
A |
C |
10: 39,768,311 (GRCm39) |
C261G |
probably benign |
Het |
Mrgprb3 |
T |
A |
7: 48,293,198 (GRCm39) |
I118F |
possibly damaging |
Het |
Mtmr2 |
T |
A |
9: 13,704,501 (GRCm39) |
Y137* |
probably null |
Het |
Ofcc1 |
A |
T |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
Omd |
A |
T |
13: 49,745,870 (GRCm39) |
|
probably benign |
Het |
Or5d46 |
C |
T |
2: 88,170,643 (GRCm39) |
|
probably null |
Het |
Or8g21 |
A |
T |
9: 38,906,728 (GRCm39) |
M1K |
probably null |
Het |
Polr3a |
T |
A |
14: 24,511,808 (GRCm39) |
D916V |
probably damaging |
Het |
Prpf38a |
T |
C |
4: 108,432,628 (GRCm39) |
Y117C |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,619,029 (GRCm39) |
G771D |
probably benign |
Het |
Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
Snx1 |
T |
A |
9: 66,001,906 (GRCm39) |
I306F |
probably benign |
Het |
Snx31 |
T |
A |
15: 36,525,749 (GRCm39) |
R317* |
probably null |
Het |
Sorl1 |
T |
C |
9: 41,902,722 (GRCm39) |
T1612A |
probably benign |
Het |
Spag1 |
G |
T |
15: 36,224,245 (GRCm39) |
|
probably benign |
Het |
Stambp |
A |
G |
6: 83,538,914 (GRCm39) |
F162S |
probably damaging |
Het |
Tkfc |
T |
A |
19: 10,576,518 (GRCm39) |
M122L |
probably benign |
Het |
Tnni3k |
T |
A |
3: 154,647,242 (GRCm39) |
|
probably null |
Het |
Trim56 |
T |
C |
5: 137,142,616 (GRCm39) |
Q300R |
probably damaging |
Het |
Ttc24 |
T |
A |
3: 87,977,408 (GRCm39) |
T113S |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,339,876 (GRCm39) |
T706S |
possibly damaging |
Het |
Yipf5 |
T |
A |
18: 40,339,290 (GRCm39) |
|
probably benign |
Het |
Zfp202 |
T |
C |
9: 40,122,695 (GRCm39) |
S486P |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,369,100 (GRCm39) |
S1676P |
probably damaging |
Het |
Znrd2 |
G |
T |
19: 5,780,450 (GRCm39) |
L183I |
possibly damaging |
Het |
|
Other mutations in Hsp90ab1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00780:Hsp90ab1
|
APN |
17 |
45,880,490 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
2016-08-02 |