Incidental Mutation 'R3700:Hsp90ab1'
ID |
269977 |
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 |
040693-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3700 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
45878704-45884187 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45882440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 85
(T85A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024739
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024739]
[ENSMUST00000041353]
[ENSMUST00000130406]
[ENSMUST00000163966]
[ENSMUST00000223987]
[ENSMUST00000166469]
[ENSMUST00000224905]
[ENSMUST00000165127]
|
AlphaFold |
P11499 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024739
AA Change: T85A
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000024739 Gene: ENSMUSG00000023944 AA Change: T85A
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 |
probably benign
Transcript: ENSMUST00000223987
|
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 |
noncoding transcript
Transcript: ENSMUST00000224559
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224905
|
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 |
|
Meta Mutation Damage Score |
0.2989 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
98% (51/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
G |
A |
18: 65,438,222 (GRCm39) |
T1524I |
probably damaging |
Het |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Arhgap26 |
T |
A |
18: 39,253,237 (GRCm39) |
F221L |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,208,361 (GRCm39) |
S36G |
probably damaging |
Het |
Bcl11a |
A |
G |
11: 24,113,890 (GRCm39) |
D411G |
probably damaging |
Het |
Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
Cnnm2 |
T |
A |
19: 46,750,990 (GRCm39) |
I260N |
probably damaging |
Het |
Coro6 |
T |
C |
11: 77,358,129 (GRCm39) |
F238S |
probably damaging |
Het |
Ddah1 |
G |
A |
3: 145,597,250 (GRCm39) |
M162I |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,387,937 (GRCm39) |
I3132T |
possibly damaging |
Het |
Drgx |
A |
T |
14: 32,350,818 (GRCm39) |
E218V |
probably damaging |
Het |
Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
Eif3f |
A |
T |
7: 108,539,482 (GRCm39) |
I251F |
probably benign |
Het |
Ephx4 |
T |
C |
5: 107,550,673 (GRCm39) |
F11L |
probably benign |
Het |
Esp1 |
T |
C |
17: 41,041,998 (GRCm39) |
S97P |
unknown |
Het |
Fbxw10 |
A |
T |
11: 62,759,983 (GRCm39) |
|
probably null |
Het |
Idh2 |
T |
C |
7: 79,748,895 (GRCm39) |
K129E |
probably damaging |
Het |
Kcnj6 |
A |
G |
16: 94,633,865 (GRCm39) |
I64T |
probably damaging |
Het |
Klk1b5 |
T |
A |
7: 43,500,251 (GRCm39) |
C280S |
probably damaging |
Het |
Lhx2 |
T |
A |
2: 38,250,111 (GRCm39) |
L269H |
probably damaging |
Het |
Lrrc71 |
T |
A |
3: 87,653,185 (GRCm39) |
|
probably null |
Het |
Lss |
T |
A |
10: 76,382,026 (GRCm39) |
L484Q |
probably damaging |
Het |
Mmp14 |
G |
A |
14: 54,669,389 (GRCm39) |
|
probably benign |
Het |
Muc5b |
A |
G |
7: 141,400,986 (GRCm39) |
T534A |
unknown |
Het |
Mysm1 |
T |
C |
4: 94,858,889 (GRCm39) |
K87E |
probably benign |
Het |
Or6d13 |
T |
A |
6: 116,517,489 (GRCm39) |
V25E |
probably benign |
Het |
Or6f2 |
C |
G |
7: 139,756,127 (GRCm39) |
F37L |
possibly damaging |
Het |
Pcolce |
T |
C |
5: 137,607,309 (GRCm39) |
T61A |
probably damaging |
Het |
Phc3 |
C |
A |
3: 30,968,277 (GRCm39) |
D920Y |
probably damaging |
Het |
Pi4kb |
T |
C |
3: 94,901,599 (GRCm39) |
I422T |
probably benign |
Het |
Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
Plce1 |
T |
A |
19: 38,693,781 (GRCm39) |
F768Y |
probably damaging |
Het |
Ppp1r21 |
T |
C |
17: 88,889,882 (GRCm39) |
S709P |
possibly damaging |
Het |
Prdx6 |
T |
C |
1: 161,074,858 (GRCm39) |
D74G |
probably damaging |
Het |
Rlf |
A |
G |
4: 121,008,060 (GRCm39) |
F307L |
possibly damaging |
Het |
Skic2 |
T |
C |
17: 35,068,879 (GRCm39) |
E40G |
probably benign |
Het |
Snapin |
G |
A |
3: 90,397,499 (GRCm39) |
R91* |
probably null |
Het |
Sort1 |
T |
A |
3: 108,263,955 (GRCm39) |
L838* |
probably null |
Het |
Sstr4 |
A |
G |
2: 148,238,273 (GRCm39) |
I295V |
possibly damaging |
Het |
Stk39 |
T |
A |
2: 68,222,462 (GRCm39) |
I201F |
probably damaging |
Het |
Tasp1 |
T |
C |
2: 139,752,474 (GRCm39) |
T322A |
probably benign |
Het |
Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
Tlr9 |
G |
A |
9: 106,101,278 (GRCm39) |
V190M |
probably damaging |
Het |
Ttf2 |
A |
G |
3: 100,858,324 (GRCm39) |
L755P |
probably damaging |
Het |
Txn2 |
G |
A |
15: 77,811,976 (GRCm39) |
T60M |
possibly damaging |
Het |
Vmn1r10 |
A |
G |
6: 57,091,287 (GRCm39) |
N293S |
probably benign |
Het |
Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
Vmn2r111 |
C |
T |
17: 22,790,142 (GRCm39) |
W288* |
probably null |
Het |
Vmn2r118 |
T |
C |
17: 55,915,421 (GRCm39) |
S510G |
possibly damaging |
Het |
Zgpat |
T |
A |
2: 181,007,439 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
G |
T |
11: 72,777,598 (GRCm39) |
G1810C |
probably null |
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 |
|
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 |
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'- GTCCTGACCAACCACTTGTAC -3'
(R):5'- AACAGTTCAGTTGATGTTGAAGGG -3'
Sequencing Primer
(F):5'- GGATGAAAGGCCACACAC -3'
(R):5'- CAGTTGATGTTGAAGGGGGAGG -3'
|
Posted On |
2015-03-18 |