Incidental Mutation 'R9046:Hsp90ab1'
| ID |
688081 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9046 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45878704-45884187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45879969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 516
(P516S)
|
| 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 damaging
Transcript: ENSMUST00000024739
AA Change: P516S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: P516S
| 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 damaging
Transcript: ENSMUST00000165127
AA Change: P154S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126239
Gene: ENSMUSG00000023944
AA Change: P154S
| 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 |
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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
99% (66/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,243,525 (GRCm39) |
V1796A |
probably benign |
Het |
| Abca3 |
A |
G |
17: 24,617,477 (GRCm39) |
D1058G |
probably damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,323,858 (GRCm39) |
V431A |
probably benign |
Het |
| Amdhd1 |
C |
T |
10: 93,363,087 (GRCm39) |
D334N |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,506,642 (GRCm39) |
M252K |
probably benign |
Het |
| Anxa3 |
G |
A |
5: 96,976,626 (GRCm39) |
R204Q |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,426,093 (GRCm39) |
T352A |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,850,846 (GRCm39) |
E464G |
possibly damaging |
Het |
| Atp11b |
T |
A |
3: 35,852,740 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
T |
A |
16: 95,829,402 (GRCm39) |
S1100C |
probably damaging |
Het |
| Ccm2l |
T |
A |
2: 152,916,720 (GRCm39) |
I317N |
probably damaging |
Het |
| Ccr9 |
C |
T |
9: 123,608,831 (GRCm39) |
T171I |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,218,303 (GRCm39) |
|
probably benign |
Het |
| Dact1 |
A |
G |
12: 71,365,534 (GRCm39) |
I735V |
probably benign |
Het |
| Dok6 |
C |
A |
18: 89,787,221 (GRCm39) |
V14L |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 62,984,603 (GRCm39) |
Y436F |
possibly damaging |
Het |
| Fndc9 |
G |
T |
11: 46,128,889 (GRCm39) |
W136L |
probably damaging |
Het |
| Gal3st1 |
G |
A |
11: 3,948,278 (GRCm39) |
V162I |
probably benign |
Het |
| Gart |
A |
G |
16: 91,418,561 (GRCm39) |
S973P |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,035 (GRCm39) |
|
probably null |
Het |
| Htr1a |
G |
C |
13: 105,581,816 (GRCm39) |
G352A |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,568,945 (GRCm39) |
T545A |
probably damaging |
Het |
| Isg20 |
A |
T |
7: 78,569,823 (GRCm39) |
R265* |
probably null |
Het |
| Kcmf1 |
C |
T |
6: 72,825,455 (GRCm39) |
A213T |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,572,540 (GRCm39) |
V1007A |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,515,337 (GRCm39) |
E81G |
probably damaging |
Het |
| Klhl6 |
C |
A |
16: 19,765,803 (GRCm39) |
V600F |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,285,479 (GRCm39) |
V471A |
probably benign |
Het |
| Lap3 |
A |
G |
5: 45,652,562 (GRCm39) |
T53A |
probably damaging |
Het |
| Lmntd1 |
A |
T |
6: 145,365,565 (GRCm39) |
I188N |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,302,543 (GRCm39) |
I1868V |
possibly damaging |
Het |
| Mef2d |
A |
T |
3: 88,074,825 (GRCm39) |
Y337F |
probably benign |
Het |
| Mgat4e |
T |
C |
1: 134,474,742 (GRCm39) |
T7A |
possibly damaging |
Het |
| Myo3a |
G |
T |
2: 22,448,367 (GRCm39) |
L985F |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,923,112 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,376,145 (GRCm39) |
G77S |
probably benign |
Het |
| Nostrin |
G |
T |
2: 68,975,123 (GRCm39) |
V13L |
probably benign |
Het |
| Nup155 |
TGGG |
TGG |
15: 8,157,919 (GRCm39) |
|
probably null |
Het |
| Or14j6 |
A |
G |
17: 38,215,145 (GRCm39) |
K236R |
probably damaging |
Het |
| Or3a10 |
T |
C |
11: 73,935,284 (GRCm39) |
D272G |
probably damaging |
Het |
| Or4a75 |
C |
T |
2: 89,448,496 (GRCm39) |
|
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,115 (GRCm39) |
N193D |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,864,927 (GRCm39) |
K1025T |
probably damaging |
Het |
| Parvb |
T |
C |
15: 84,174,639 (GRCm39) |
I144T |
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
A |
G |
17: 15,175,160 (GRCm39) |
V195A |
probably damaging |
Het |
| Prpf18 |
A |
T |
2: 4,640,464 (GRCm39) |
M257K |
possibly damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,870,364 (GRCm39) |
|
probably null |
Het |
| Ptprt |
G |
A |
2: 161,372,361 (GRCm39) |
T1437M |
possibly damaging |
Het |
| Ptx3 |
T |
C |
3: 66,132,153 (GRCm39) |
F225L |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,947,435 (GRCm39) |
K50E |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,661,940 (GRCm39) |
N427D |
probably benign |
Het |
| Serpinb8 |
G |
A |
1: 107,530,563 (GRCm39) |
A114T |
possibly damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,436,725 (GRCm39) |
V35A |
probably damaging |
Het |
| Slc22a2 |
G |
A |
17: 12,834,234 (GRCm39) |
A501T |
probably null |
Het |
| Slu7 |
G |
A |
11: 43,335,629 (GRCm39) |
C455Y |
probably damaging |
Het |
| Src |
C |
A |
2: 157,307,795 (GRCm39) |
H235N |
probably damaging |
Het |
| Svopl |
T |
A |
6: 37,998,531 (GRCm39) |
M248L |
probably benign |
Het |
| Tbx6 |
G |
A |
7: 126,381,120 (GRCm39) |
|
probably null |
Het |
| Tprg1l |
A |
T |
4: 154,242,913 (GRCm39) |
I239N |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,513,189 (GRCm39) |
F350L |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,176,698 (GRCm39) |
Y359C |
probably damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,585 (GRCm39) |
S145P |
probably damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,850 (GRCm39) |
F76I |
probably benign |
Het |
| Xpot |
A |
T |
10: 121,432,149 (GRCm39) |
C916* |
probably null |
Het |
| Zfp236 |
C |
T |
18: 82,637,042 (GRCm39) |
E1415K |
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 |
|
|
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 |
|
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'- TCCAAGATCTCCTTCATGAGC -3'
(R):5'- GAAGGAGACCCAGAAGTCCATC -3'
Sequencing Primer
(F):5'- AGATCTCCTTCATGAGCTTGCAGAG -3'
(R):5'- CTACTATATCACTGGTATGTCGGAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation