Incidental Mutation 'R8525:Hsp90ab1'
| ID |
658787 |
| 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 |
067950-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8525 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45878704-45884187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45880726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 115
(E115D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024739]
[ENSMUST00000041353]
[ENSMUST00000130406]
[ENSMUST00000163966]
[ENSMUST00000165127]
[ENSMUST00000166469]
[ENSMUST00000223987]
[ENSMUST00000224905]
[ENSMUST00000226086]
|
| AlphaFold |
P11499 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024739
AA Change: E328D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: E328D
| 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 |
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: 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 |
probably benign
Transcript: ENSMUST00000166469
AA Change: E115D
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000127338
Gene: ENSMUSG00000023944
AA Change: E115D
| 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: ENSMUST00000224341
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224905
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226086
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (49/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
T |
7: 27,255,936 (GRCm39) |
N8Y |
possibly damaging |
Het |
| 4932414N04Rik |
A |
T |
2: 68,559,378 (GRCm39) |
D197V |
possibly damaging |
Het |
| Aar2 |
G |
A |
2: 156,397,837 (GRCm39) |
R283Q |
probably benign |
Het |
| Acsf2 |
T |
A |
11: 94,463,446 (GRCm39) |
I119F |
probably benign |
Het |
| Adamtsl1 |
C |
T |
4: 86,195,247 (GRCm39) |
P572S |
probably damaging |
Het |
| Adh5 |
A |
T |
3: 138,157,095 (GRCm39) |
I219F |
probably damaging |
Het |
| Arhgap23 |
T |
A |
11: 97,380,910 (GRCm39) |
F1098I |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,779,365 (GRCm39) |
H674Q |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,853 (GRCm39) |
R786H |
probably benign |
Het |
| Ccr1l1 |
A |
G |
9: 123,777,589 (GRCm39) |
I286T |
possibly damaging |
Het |
| Ccr9 |
T |
A |
9: 123,608,732 (GRCm39) |
M138K |
probably benign |
Het |
| Dbh |
T |
C |
2: 27,055,798 (GRCm39) |
F91L |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,110,115 (GRCm39) |
|
probably null |
Het |
| Eif3j1 |
A |
G |
2: 121,880,991 (GRCm39) |
I148V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,534,892 (GRCm39) |
R116G |
probably damaging |
Het |
| Exoc6 |
C |
A |
19: 37,597,440 (GRCm39) |
Q614K |
possibly damaging |
Het |
| Gabpb1 |
A |
G |
2: 126,494,194 (GRCm39) |
S144P |
possibly damaging |
Het |
| Galnt13 |
G |
A |
2: 54,950,488 (GRCm39) |
V390M |
possibly damaging |
Het |
| Gimap5 |
T |
C |
6: 48,729,501 (GRCm39) |
S24P |
probably benign |
Het |
| Gm4924 |
T |
A |
10: 82,213,701 (GRCm39) |
|
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,865,365 (GRCm39) |
I613K |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,266,759 (GRCm39) |
V1949A |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,318,698 (GRCm39) |
Y294C |
probably damaging |
Het |
| Il17ra |
T |
G |
6: 120,451,298 (GRCm39) |
Y157* |
probably null |
Het |
| Ipo13 |
T |
C |
4: 117,762,126 (GRCm39) |
E416G |
probably damaging |
Het |
| Large1 |
C |
T |
8: 73,564,120 (GRCm39) |
V549M |
probably damaging |
Het |
| Mmp17 |
A |
G |
5: 129,679,271 (GRCm39) |
D390G |
probably damaging |
Het |
| Mrps10 |
T |
G |
17: 47,683,371 (GRCm39) |
I102R |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,450,155 (GRCm39) |
L1712P |
probably damaging |
Het |
| Nipal2 |
A |
G |
15: 34,584,815 (GRCm39) |
M251T |
probably damaging |
Het |
| Nup160 |
G |
A |
2: 90,548,440 (GRCm39) |
|
probably null |
Het |
| Or5ac19 |
A |
T |
16: 59,089,571 (GRCm39) |
V153D |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,255 (GRCm39) |
I74T |
probably damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,081,337 (GRCm39) |
D34N |
possibly damaging |
Het |
| Pigb |
G |
T |
9: 72,924,809 (GRCm39) |
P450Q |
probably damaging |
Het |
| Radil |
A |
C |
5: 142,474,256 (GRCm39) |
L730R |
probably damaging |
Het |
| Rsbn1 |
G |
T |
3: 103,821,538 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,805,467 (GRCm39) |
D264G |
probably damaging |
Het |
| Shank3 |
C |
G |
15: 89,431,973 (GRCm39) |
S906C |
probably damaging |
Het |
| Slc1a3 |
A |
G |
15: 8,672,459 (GRCm39) |
V340A |
possibly damaging |
Het |
| Slc1a3 |
A |
T |
15: 8,680,423 (GRCm39) |
I145N |
possibly damaging |
Het |
| Slc35f4 |
A |
T |
14: 49,541,681 (GRCm39) |
S208T |
possibly damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,862 (GRCm39) |
N290S |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,715,380 (GRCm39) |
D363G |
probably benign |
Het |
| Tox3 |
T |
G |
8: 91,001,309 (GRCm39) |
N34T |
probably damaging |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,001 (GRCm39) |
I305L |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,120,711 (GRCm39) |
I57V |
possibly damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,464,603 (GRCm39) |
L1587R |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,825,322 (GRCm39) |
N430S |
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 |
|
|
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 |
|
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'- AGGATCTTGCTCTGCTGCAG -3'
(R):5'- GGCGGGATAATTCTTGCTACCAG -3'
Sequencing Primer
(F):5'- TCTCCCGGGAGATGTTCAG -3'
(R):5'- CAGCATGCTGGGTTTATTTGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation