Incidental Mutation 'R6834:Hsp90ab1'
| ID |
534530 |
| 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 |
044943-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6834 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
45878704-45884187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45881393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 250
(I250V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024739
(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: I250V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: I250V
| 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 |
unknown
Transcript: ENSMUST00000166469
AA Change: I37V
|
| SMART Domains |
Protein: ENSMUSP00000127338
Gene: ENSMUSG00000023944
AA Change: I37V
| 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: ENSMUST00000224905
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226086
|
| Meta Mutation Damage Score |
0.0849 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,225,110 (GRCm39) |
W530R |
possibly damaging |
Het |
| Aco1 |
A |
G |
4: 40,164,747 (GRCm39) |
K79R |
probably benign |
Het |
| Adam15 |
C |
T |
3: 89,247,390 (GRCm39) |
G426R |
probably damaging |
Het |
| Angptl1 |
A |
T |
1: 156,672,263 (GRCm39) |
I30L |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,590,599 (GRCm39) |
E295G |
possibly damaging |
Het |
| Ap5m1 |
T |
A |
14: 49,311,194 (GRCm39) |
V88E |
probably damaging |
Het |
| Astn1 |
A |
T |
1: 158,491,692 (GRCm39) |
Q47L |
probably benign |
Het |
| Atf6b |
T |
C |
17: 34,868,131 (GRCm39) |
S135P |
probably damaging |
Het |
| AU018091 |
T |
A |
7: 3,207,795 (GRCm39) |
I589F |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,505,265 (GRCm39) |
S179P |
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,391,643 (GRCm39) |
K730E |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,898,338 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
T |
18: 50,088,890 (GRCm39) |
I2790F |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,031,784 (GRCm39) |
D116G |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,853,283 (GRCm39) |
H105Q |
probably damaging |
Het |
| Epb41l2 |
T |
A |
10: 25,369,502 (GRCm39) |
V23D |
possibly damaging |
Het |
| Gatad2b |
T |
A |
3: 90,255,950 (GRCm39) |
S139T |
probably benign |
Het |
| Glb1l |
A |
G |
1: 75,178,397 (GRCm39) |
V347A |
possibly damaging |
Het |
| Gm4846 |
A |
T |
1: 166,322,147 (GRCm39) |
I140N |
possibly damaging |
Het |
| Gng11 |
A |
G |
6: 4,008,068 (GRCm39) |
I44V |
probably benign |
Het |
| Hsd17b8 |
T |
C |
17: 34,246,191 (GRCm39) |
S161G |
probably damaging |
Het |
| Igkv4-79 |
A |
G |
6: 69,020,256 (GRCm39) |
S20P |
probably damaging |
Het |
| Il11ra1 |
A |
G |
4: 41,765,454 (GRCm39) |
H183R |
probably benign |
Het |
| Kcnip3 |
A |
T |
2: 127,300,278 (GRCm39) |
F252I |
probably damaging |
Het |
| Klk12 |
T |
C |
7: 43,422,772 (GRCm39) |
V233A |
possibly damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,428,336 (GRCm39) |
I242T |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
| Lmod2 |
A |
T |
6: 24,597,782 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,529,222 (GRCm39) |
V1089E |
probably damaging |
Het |
| Lrba |
C |
T |
3: 86,257,593 (GRCm39) |
P1286S |
probably benign |
Het |
| Lrrc41 |
T |
C |
4: 115,953,726 (GRCm39) |
V804A |
possibly damaging |
Het |
| Lrrc8a |
T |
A |
2: 30,145,659 (GRCm39) |
S158T |
possibly damaging |
Het |
| Mcm3 |
A |
T |
1: 20,880,320 (GRCm39) |
M504K |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,595,850 (GRCm39) |
|
probably null |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,385 (GRCm39) |
S121G |
probably damaging |
Het |
| Mvb12a |
G |
A |
8: 71,997,896 (GRCm39) |
M103I |
probably benign |
Het |
| Or4k15c |
A |
G |
14: 50,321,685 (GRCm39) |
V151A |
probably damaging |
Het |
| Or4k2 |
T |
C |
14: 50,423,940 (GRCm39) |
I245V |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pacsin3 |
T |
A |
2: 91,093,180 (GRCm39) |
M224K |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,765,717 (GRCm39) |
I771F |
probably damaging |
Het |
| Pamr1 |
C |
T |
2: 102,445,276 (GRCm39) |
R270C |
probably damaging |
Het |
| Pcdhgb8 |
G |
T |
18: 37,895,142 (GRCm39) |
A71S |
probably benign |
Het |
| Poc1b |
C |
T |
10: 99,028,666 (GRCm39) |
A336V |
probably benign |
Het |
| Prss39 |
G |
T |
1: 34,537,697 (GRCm39) |
V54F |
possibly damaging |
Het |
| Ptar1 |
A |
G |
19: 23,695,288 (GRCm39) |
T252A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,999,632 (GRCm39) |
D574G |
probably benign |
Het |
| Rnf40 |
G |
A |
7: 127,195,578 (GRCm39) |
D635N |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,158,086 (GRCm39) |
Q429L |
probably damaging |
Het |
| Sf1 |
G |
T |
19: 6,424,127 (GRCm39) |
G386C |
probably damaging |
Het |
| Shank2 |
A |
T |
7: 143,963,631 (GRCm39) |
Y623F |
probably damaging |
Het |
| Slc9a5 |
G |
T |
8: 106,091,316 (GRCm39) |
A699S |
probably benign |
Het |
| Sox9 |
A |
T |
11: 112,674,826 (GRCm39) |
Q208L |
probably benign |
Het |
| Synpo2l |
A |
T |
14: 20,710,702 (GRCm39) |
D865E |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,245,522 (GRCm39) |
S1097P |
probably benign |
Het |
| Tmc1 |
C |
A |
19: 20,772,974 (GRCm39) |
E676* |
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,830,825 (GRCm39) |
I158T |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,088,989 (GRCm39) |
Y315H |
probably damaging |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,571 (GRCm39) |
D191G |
probably damaging |
Het |
| Vmn2r-ps158 |
G |
C |
7: 42,673,004 (GRCm39) |
A143P |
probably damaging |
Het |
| Zfp358 |
A |
G |
8: 3,545,613 (GRCm39) |
D92G |
probably benign |
Het |
| Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
probably damaging |
Het |
| Zpld2 |
A |
C |
4: 133,920,476 (GRCm39) |
V563G |
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 |
|
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 |
|
|
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'- AGGAAGGCTTCTCACCTTGAC -3'
(R):5'- TTGGAGCAGGCTAATGGCAC -3'
Sequencing Primer
(F):5'- AAGTGGTCCTCCCAGTCATTGG -3'
(R):5'- AGGCTAATGGCACTGGGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation