Incidental Mutation 'R1738:Hsp90ab1'
ID |
199899 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
039770-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1738 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
45878704-45884187 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45882732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 36
(K36E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024739
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024739]
[ENSMUST00000041353]
[ENSMUST00000130406]
[ENSMUST00000163966]
[ENSMUST00000165127]
[ENSMUST00000166469]
[ENSMUST00000223987]
[ENSMUST00000224905]
|
AlphaFold |
P11499 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024739
AA Change: K36E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000024739 Gene: ENSMUSG00000023944 AA Change: K36E
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 |
possibly damaging
Transcript: ENSMUST00000130406
AA Change: K36E
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000119678 Gene: ENSMUSG00000023944 AA Change: K36E
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 |
possibly damaging
Transcript: ENSMUST00000163966
AA Change: K36E
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131601 Gene: ENSMUSG00000023944 AA Change: K36E
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 |
unknown
Transcript: ENSMUST00000165127
AA Change: K36E
|
SMART Domains |
Protein: ENSMUSP00000126239 Gene: ENSMUSG00000023944 AA Change: K36E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
Pfam:HSP90
|
37 |
161 |
3.8e-60 |
PFAM |
|
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 |
noncoding transcript
Transcript: ENSMUST00000224559
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224905
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.7%
- 20x: 89.9%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,682,475 (GRCm39) |
Y202C |
probably damaging |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adgrl3 |
T |
G |
5: 81,535,826 (GRCm39) |
M155R |
probably damaging |
Het |
Ak9 |
A |
T |
10: 41,211,917 (GRCm39) |
Q218L |
possibly damaging |
Het |
Akap13 |
G |
A |
7: 75,326,942 (GRCm39) |
G647D |
probably damaging |
Het |
Angptl3 |
A |
G |
4: 98,921,499 (GRCm39) |
T206A |
probably benign |
Het |
Arhgap19 |
A |
G |
19: 41,772,820 (GRCm39) |
I291T |
probably benign |
Het |
BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,984,133 (GRCm39) |
D3307G |
unknown |
Het |
Cby2 |
C |
T |
14: 75,830,497 (GRCm39) |
M1I |
probably null |
Het |
Ces2h |
T |
A |
8: 105,745,697 (GRCm39) |
|
probably null |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Col4a2 |
T |
A |
8: 11,496,238 (GRCm39) |
F1620I |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,744,083 (GRCm39) |
E88G |
probably damaging |
Het |
Coro6 |
A |
G |
11: 77,360,251 (GRCm39) |
D407G |
probably benign |
Het |
Cpe |
A |
T |
8: 65,064,475 (GRCm39) |
F241L |
probably damaging |
Het |
Csde1 |
A |
G |
3: 102,936,493 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
T |
G |
13: 113,504,034 (GRCm39) |
L179R |
possibly damaging |
Het |
Dgki |
A |
G |
6: 37,034,367 (GRCm39) |
I361T |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,634,582 (GRCm39) |
V1298A |
probably damaging |
Het |
Duox2 |
T |
A |
2: 122,123,895 (GRCm39) |
I430F |
probably damaging |
Het |
Gak |
T |
C |
5: 108,764,842 (GRCm39) |
Y153C |
probably damaging |
Het |
Gal3st2 |
T |
A |
1: 93,802,318 (GRCm39) |
|
probably null |
Het |
Gbp11 |
T |
C |
5: 105,474,510 (GRCm39) |
N389D |
probably benign |
Het |
Grm1 |
A |
G |
10: 10,812,163 (GRCm39) |
V287A |
probably damaging |
Het |
Il24 |
T |
A |
1: 130,815,099 (GRCm39) |
|
probably null |
Het |
Ino80d |
T |
C |
1: 63,132,624 (GRCm39) |
D13G |
probably damaging |
Het |
Ipp |
G |
A |
4: 116,387,618 (GRCm39) |
V399I |
probably benign |
Het |
Kank3 |
A |
T |
17: 34,036,168 (GRCm39) |
D12V |
probably damaging |
Het |
Lcn12 |
A |
T |
2: 25,383,263 (GRCm39) |
S74R |
probably damaging |
Het |
Mast3 |
T |
C |
8: 71,237,200 (GRCm39) |
T637A |
probably benign |
Het |
Nes |
C |
A |
3: 87,883,728 (GRCm39) |
Y662* |
probably null |
Het |
Nudt13 |
A |
T |
14: 20,359,762 (GRCm39) |
H163L |
probably damaging |
Het |
Or1j17 |
T |
C |
2: 36,578,797 (GRCm39) |
V261A |
probably benign |
Het |
Or4a2 |
T |
C |
2: 89,248,362 (GRCm39) |
T132A |
probably benign |
Het |
Or4p7 |
G |
A |
2: 88,221,671 (GRCm39) |
V27I |
probably benign |
Het |
Or8k1 |
A |
T |
2: 86,048,060 (GRCm39) |
|
probably null |
Het |
Pde6b |
C |
T |
5: 108,578,425 (GRCm39) |
R788* |
probably null |
Het |
Pex13 |
A |
G |
11: 23,599,458 (GRCm39) |
L351P |
probably benign |
Het |
Phc1 |
A |
G |
6: 122,295,525 (GRCm39) |
M942T |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,626,659 (GRCm39) |
D571E |
probably benign |
Het |
Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,874,125 (GRCm39) |
N470S |
possibly damaging |
Het |
Primpol |
A |
G |
8: 47,060,873 (GRCm39) |
S82P |
probably damaging |
Het |
Prkg1 |
T |
C |
19: 30,764,322 (GRCm39) |
D256G |
possibly damaging |
Het |
Prune2 |
A |
G |
19: 17,102,374 (GRCm39) |
E2511G |
probably benign |
Het |
Rassf8 |
T |
C |
6: 145,761,034 (GRCm39) |
I120T |
probably benign |
Het |
Rfx4 |
G |
A |
10: 84,716,839 (GRCm39) |
|
probably null |
Het |
Rtp2 |
A |
T |
16: 23,746,423 (GRCm39) |
N69K |
probably benign |
Het |
Sh3d19 |
A |
T |
3: 86,027,913 (GRCm39) |
I597F |
probably damaging |
Het |
Sorl1 |
T |
A |
9: 42,001,261 (GRCm39) |
E246D |
probably benign |
Het |
Tet2 |
T |
A |
3: 133,187,148 (GRCm39) |
I1094L |
probably benign |
Het |
Tlr4 |
A |
T |
4: 66,759,313 (GRCm39) |
H702L |
probably benign |
Het |
Tnfrsf14 |
T |
C |
4: 155,009,788 (GRCm39) |
D47G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,777,157 (GRCm39) |
Y1415C |
probably damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,576,377 (GRCm39) |
F416Y |
probably benign |
Het |
Vmn2r54 |
A |
G |
7: 12,369,815 (GRCm39) |
S83P |
probably benign |
Het |
Vtn |
A |
G |
11: 78,390,422 (GRCm39) |
D53G |
possibly damaging |
Het |
Vwde |
A |
T |
6: 13,190,723 (GRCm39) |
V456D |
probably damaging |
Het |
Wdr91 |
G |
A |
6: 34,861,243 (GRCm39) |
P653L |
probably damaging |
Het |
Ythdf1 |
G |
A |
2: 180,553,285 (GRCm39) |
A283V |
probably benign |
Het |
Zfp975 |
C |
A |
7: 42,312,373 (GRCm39) |
W80L |
probably benign |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGTCCAACTTAGAAGGGTCCGTC -3'
(R):5'- AGTGAGCTATGCACTGAACATGCC -3'
Sequencing Primer
(F):5'- CTTGTCCAGGGCCTGTAGTAAAC -3'
(R):5'- AGAAAATGGCTGCTCTTGTCTC -3'
|
Posted On |
2014-05-23 |