Incidental Mutation 'R6833:Hsp90ab1'
ID |
534465 |
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 |
044942-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6833 (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 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: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
96% (54/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 11,658,733 (GRCm39) |
W215R |
probably damaging |
Het |
Aco1 |
A |
G |
4: 40,164,747 (GRCm39) |
K79R |
probably benign |
Het |
Adam28 |
C |
T |
14: 68,855,576 (GRCm39) |
A630T |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,439,480 (GRCm39) |
K1105E |
probably benign |
Het |
Angptl1 |
A |
T |
1: 156,672,263 (GRCm39) |
I30L |
probably benign |
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 |
Ccdc122 |
G |
T |
14: 77,326,371 (GRCm39) |
|
probably benign |
Het |
Cers3 |
T |
C |
7: 66,429,419 (GRCm39) |
|
probably null |
Het |
Dcaf10 |
T |
C |
4: 45,373,043 (GRCm39) |
C95R |
probably damaging |
Het |
Dcxr |
A |
G |
11: 120,616,917 (GRCm39) |
Y149H |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 50,088,890 (GRCm39) |
I2790F |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,352,580 (GRCm39) |
C2578S |
probably benign |
Het |
Dnttip2 |
T |
C |
3: 122,070,452 (GRCm39) |
S556P |
probably damaging |
Het |
Efr3a |
T |
G |
15: 65,714,535 (GRCm39) |
V301G |
probably damaging |
Het |
Eml5 |
A |
T |
12: 98,853,283 (GRCm39) |
H105Q |
probably damaging |
Het |
Enpp3 |
T |
A |
10: 24,685,768 (GRCm39) |
H44L |
probably damaging |
Het |
Fam120a |
A |
G |
13: 49,087,517 (GRCm39) |
V281A |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Ferd3l |
G |
A |
12: 33,978,537 (GRCm39) |
V17I |
probably damaging |
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 |
Gm9195 |
T |
C |
14: 72,671,856 (GRCm39) |
T2586A |
possibly damaging |
Het |
Hsd17b8 |
T |
C |
17: 34,246,191 (GRCm39) |
S161G |
probably damaging |
Het |
Il11ra1 |
A |
G |
4: 41,765,454 (GRCm39) |
H183R |
probably benign |
Het |
Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
Lgals7 |
G |
A |
7: 28,565,087 (GRCm39) |
R75Q |
probably damaging |
Het |
Lpcat3 |
A |
G |
6: 124,676,974 (GRCm39) |
Y124C |
probably 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 |
Mro |
G |
T |
18: 73,997,003 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,955,773 (GRCm39) |
|
probably null |
Het |
Myh14 |
T |
A |
7: 44,273,803 (GRCm39) |
K1356* |
probably null |
Het |
Myo5b |
A |
C |
18: 74,903,396 (GRCm39) |
Q1804P |
probably benign |
Het |
Nol10 |
A |
G |
12: 17,402,728 (GRCm39) |
I67V |
probably benign |
Het |
Pam |
T |
A |
1: 97,765,717 (GRCm39) |
I771F |
probably damaging |
Het |
Pcdhgb8 |
G |
T |
18: 37,895,142 (GRCm39) |
A71S |
probably benign |
Het |
Pmfbp1 |
T |
C |
8: 110,265,307 (GRCm39) |
|
probably null |
Het |
Poc1b |
C |
T |
10: 99,028,666 (GRCm39) |
A336V |
probably benign |
Het |
Poglut3 |
A |
G |
9: 53,303,308 (GRCm39) |
I67V |
possibly damaging |
Het |
Prap1 |
C |
A |
7: 139,674,995 (GRCm39) |
A20E |
possibly damaging |
Het |
Prox1 |
G |
A |
1: 189,892,975 (GRCm39) |
A490V |
probably damaging |
Het |
Prss39 |
G |
T |
1: 34,537,697 (GRCm39) |
V54F |
possibly damaging |
Het |
Sema3b |
T |
A |
9: 107,480,515 (GRCm39) |
E144V |
probably benign |
Het |
Sft2d1 |
C |
T |
17: 8,537,707 (GRCm39) |
T32I |
possibly damaging |
Het |
Smpd2 |
C |
T |
10: 41,364,442 (GRCm39) |
A160T |
probably damaging |
Het |
Stard9 |
G |
T |
2: 120,531,740 (GRCm39) |
V2666F |
probably damaging |
Het |
Syt7 |
T |
A |
19: 10,421,508 (GRCm39) |
M400K |
probably damaging |
Het |
Thoc5 |
T |
C |
11: 4,869,804 (GRCm39) |
L402P |
probably damaging |
Het |
Tinf2 |
A |
T |
14: 55,919,037 (GRCm39) |
M1K |
probably null |
Het |
Ttc21a |
A |
G |
9: 119,771,701 (GRCm39) |
I167V |
probably benign |
Het |
Vldlr |
T |
C |
19: 27,217,974 (GRCm39) |
L474P |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,294 (GRCm39) |
V845A |
probably benign |
Het |
Zdhhc7 |
A |
T |
8: 120,811,663 (GRCm39) |
M180K |
probably damaging |
Het |
Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
probably 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 |
|
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'- GAGGAAGGCTTCTCACCTTG -3'
(R):5'- TTGGAGCAGGCTAATGGCAC -3'
Sequencing Primer
(F):5'- AAGTGGTCCTCCCAGTCATTGG -3'
(R):5'- AGGCTAATGGCACTGGGC -3'
|
Posted On |
2018-09-12 |