Incidental Mutation 'IGL03104:Hsp90ab1'
| ID |
418872 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03104
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
45878704-45884187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45882449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 82
(R82C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024739]
[ENSMUST00000041353]
[ENSMUST00000130406]
[ENSMUST00000163966]
[ENSMUST00000165127]
[ENSMUST00000166469]
[ENSMUST00000224905]
[ENSMUST00000223987]
|
| AlphaFold |
P11499 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024739
AA Change: R82C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: R82C
| 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
AA Change: R82C
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000131601
Gene: ENSMUSG00000023944
AA Change: R82C
| 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
|
| 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: ENSMUST00000223987
|
| Coding Region Coverage |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
C |
A |
1: 58,321,918 (GRCm39) |
T70K |
probably benign |
Het |
| Armt1 |
T |
A |
10: 4,389,615 (GRCm39) |
Y91N |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,120,934 (GRCm39) |
L46S |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,941,743 (GRCm39) |
S1488P |
probably damaging |
Het |
| Coro7 |
T |
A |
16: 4,446,990 (GRCm39) |
E793V |
probably damaging |
Het |
| Ctnnbl1 |
G |
T |
2: 157,732,885 (GRCm39) |
R555L |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,743,666 (GRCm39) |
C268R |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,847,260 (GRCm39) |
M1684K |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,178,384 (GRCm39) |
C2092* |
probably null |
Het |
| Dtx1 |
T |
A |
5: 120,833,030 (GRCm39) |
Q136L |
possibly damaging |
Het |
| Egln3 |
C |
T |
12: 54,249,981 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,827,504 (GRCm39) |
Y575* |
probably null |
Het |
| Entpd5 |
A |
T |
12: 84,431,022 (GRCm39) |
V310E |
probably damaging |
Het |
| Fkbp5 |
A |
G |
17: 28,634,946 (GRCm39) |
F188L |
probably damaging |
Het |
| Frrs1 |
T |
C |
3: 116,675,431 (GRCm39) |
S120P |
probably benign |
Het |
| Gadl1 |
T |
C |
9: 115,903,108 (GRCm39) |
I479T |
possibly damaging |
Het |
| Gfra2 |
A |
T |
14: 71,205,725 (GRCm39) |
M106L |
probably benign |
Het |
| Gm17455 |
T |
A |
10: 60,239,060 (GRCm39) |
C108* |
probably null |
Het |
| Grhpr |
A |
G |
4: 44,983,867 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,226,905 (GRCm39) |
Y2256C |
probably damaging |
Het |
| Ivd |
A |
T |
2: 118,703,384 (GRCm39) |
I160F |
probably benign |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,450 (GRCm39) |
C67R |
unknown |
Het |
| Lhx4 |
A |
T |
1: 155,580,967 (GRCm39) |
V186E |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,631,958 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Map3k5 |
C |
T |
10: 20,007,801 (GRCm39) |
S1202L |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,770,319 (GRCm39) |
N108K |
probably damaging |
Het |
| Mov10 |
G |
A |
3: 104,704,623 (GRCm39) |
R763W |
probably damaging |
Het |
| Mto1 |
T |
C |
9: 78,356,802 (GRCm39) |
S106P |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,876,233 (GRCm39) |
|
probably benign |
Het |
| Or10j27 |
A |
G |
1: 172,958,526 (GRCm39) |
V86A |
probably benign |
Het |
| Or8s10 |
A |
G |
15: 98,336,127 (GRCm39) |
Y259C |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,151,532 (GRCm39) |
|
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,190,004 (GRCm39) |
Y394C |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,388,904 (GRCm39) |
S377T |
probably benign |
Het |
| Sirpd |
G |
T |
3: 15,397,283 (GRCm39) |
|
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,015,946 (GRCm39) |
S403P |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,297,231 (GRCm39) |
T480A |
probably damaging |
Het |
| Slu7 |
G |
A |
11: 43,332,883 (GRCm39) |
V315I |
probably benign |
Het |
| St6galnac3 |
T |
C |
3: 152,911,115 (GRCm39) |
E282G |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,685 (GRCm39) |
V855A |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,962,717 (GRCm39) |
D350G |
probably benign |
Het |
| Vmn1r53 |
T |
A |
6: 90,200,944 (GRCm39) |
K127* |
probably null |
Het |
| Vmn1r72 |
T |
G |
7: 11,403,812 (GRCm39) |
H212P |
probably damaging |
Het |
| Vmn2r86 |
T |
A |
10: 130,282,501 (GRCm39) |
Q705L |
probably damaging |
Het |
| Vps33b |
C |
T |
7: 79,925,831 (GRCm39) |
R93C |
probably damaging |
Het |
| Wdr91 |
T |
A |
6: 34,882,491 (GRCm39) |
E219D |
probably benign |
Het |
| Zan |
G |
A |
5: 137,461,762 (GRCm39) |
T1139I |
unknown |
Het |
| Zc3hav1 |
T |
A |
6: 38,317,278 (GRCm39) |
K107N |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,187,784 (GRCm39) |
E1150G |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation