Incidental Mutation 'IGL01554:Hspa1a'
| ID |
90673 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hspa1a
|
| Ensembl Gene |
ENSMUSG00000091971 |
| Gene Name |
heat shock protein 1A |
| Synonyms |
Hsp68, Hsp70a1, Hsp70.3, Hsp70-3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35188335-35191132 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35189500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 468
(P468T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007248]
[ENSMUST00000087328]
[ENSMUST00000173680]
|
| AlphaFold |
Q61696 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007248
|
| SMART Domains |
Protein: ENSMUSP00000007248
Gene: ENSMUSG00000007033
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
8 |
614 |
6.5e-269 |
PFAM |
|
low complexity region
|
616 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087328
AA Change: P468T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084586
Gene: ENSMUSG00000091971
AA Change: P468T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
6 |
612 |
1.3e-268 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173680
|
| SMART Domains |
Protein: ENSMUSP00000133726
Gene: ENSMUSG00000092609
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
87 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
91 |
102 |
5.9e-5 |
PROSPERO |
|
internal_repeat_1
|
113 |
124 |
5.9e-5 |
PROSPERO |
|
low complexity region
|
134 |
146 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: At the cellular level, mice homozygous for a knock-out allele exhibit impaired thermotolerance and increased sensitivity to heat stress-induced apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,932,992 (GRCm39) |
I1211V |
probably benign |
Het |
| Adgre4 |
A |
G |
17: 56,124,090 (GRCm39) |
S497G |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,601 (GRCm39) |
M65T |
possibly damaging |
Het |
| Entrep3 |
A |
G |
3: 89,092,888 (GRCm39) |
T257A |
probably damaging |
Het |
| Ermard |
A |
G |
17: 15,271,855 (GRCm39) |
D338G |
possibly damaging |
Het |
| Espl1 |
T |
C |
15: 102,221,660 (GRCm39) |
L983P |
probably damaging |
Het |
| Ext2 |
A |
C |
2: 93,642,294 (GRCm39) |
L192V |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,409,403 (GRCm39) |
Y241F |
probably benign |
Het |
| Fbxl12 |
G |
A |
9: 20,550,215 (GRCm39) |
P170S |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,807,622 (GRCm39) |
P1314T |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,522,144 (GRCm39) |
R747G |
probably benign |
Het |
| Lamb1 |
T |
C |
12: 31,356,976 (GRCm39) |
C1028R |
probably damaging |
Het |
| Lcn8 |
C |
T |
2: 25,544,198 (GRCm39) |
A40V |
possibly damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,165,906 (GRCm39) |
Y260C |
possibly damaging |
Het |
| Mex3d |
G |
T |
10: 80,217,869 (GRCm39) |
N449K |
possibly damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,696 (GRCm39) |
N156S |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,823 (GRCm39) |
K438E |
possibly damaging |
Het |
| Nudt7 |
A |
G |
8: 114,874,625 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
C |
A |
2: 31,941,084 (GRCm39) |
S39* |
probably null |
Het |
| Opn5 |
A |
G |
17: 42,918,089 (GRCm39) |
S58P |
probably damaging |
Het |
| Or6c74 |
T |
C |
10: 129,870,052 (GRCm39) |
S186P |
probably damaging |
Het |
| Or7e173 |
T |
C |
9: 19,938,704 (GRCm39) |
I177V |
possibly damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,426 (GRCm39) |
N750K |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,502 (GRCm39) |
N1055D |
probably damaging |
Het |
| Phf2 |
T |
A |
13: 48,959,355 (GRCm39) |
K884* |
probably null |
Het |
| Prkdc |
A |
G |
16: 15,470,166 (GRCm39) |
N191S |
probably benign |
Het |
| Prpf8 |
A |
T |
11: 75,386,472 (GRCm39) |
Q987L |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,538,355 (GRCm39) |
P425L |
probably damaging |
Het |
| Rab36 |
T |
C |
10: 74,886,520 (GRCm39) |
I166T |
possibly damaging |
Het |
| Rab3gap1 |
G |
T |
1: 127,855,745 (GRCm39) |
L461F |
possibly damaging |
Het |
| Rnls |
A |
T |
19: 33,368,499 (GRCm39) |
Y27N |
possibly damaging |
Het |
| Sncaip |
A |
T |
18: 53,002,006 (GRCm39) |
I176F |
possibly damaging |
Het |
| Tagap |
G |
A |
17: 8,151,780 (GRCm39) |
G322S |
probably benign |
Het |
| Tas2r130 |
C |
T |
6: 131,607,046 (GRCm39) |
A250T |
probably benign |
Het |
| Tgs1 |
A |
G |
4: 3,593,632 (GRCm39) |
S507G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,706,056 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,737,548 (GRCm39) |
K246E |
possibly damaging |
Het |
|
| Other mutations in Hspa1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03380:Hspa1a
|
APN |
17 |
35,189,253 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1983:Hspa1a
|
UTSW |
17 |
35,189,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2117:Hspa1a
|
UTSW |
17 |
35,189,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Hspa1a
|
UTSW |
17 |
35,190,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3905:Hspa1a
|
UTSW |
17 |
35,190,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3906:Hspa1a
|
UTSW |
17 |
35,190,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3908:Hspa1a
|
UTSW |
17 |
35,190,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3909:Hspa1a
|
UTSW |
17 |
35,190,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4301:Hspa1a
|
UTSW |
17 |
35,189,482 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4453:Hspa1a
|
UTSW |
17 |
35,189,269 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4610:Hspa1a
|
UTSW |
17 |
35,190,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4904:Hspa1a
|
UTSW |
17 |
35,189,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6253:Hspa1a
|
UTSW |
17 |
35,189,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Hspa1a
|
UTSW |
17 |
35,189,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6478:Hspa1a
|
UTSW |
17 |
35,189,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6981:Hspa1a
|
UTSW |
17 |
35,189,267 (GRCm39) |
splice site |
probably null |
|
|
R8015:Hspa1a
|
UTSW |
17 |
35,189,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8487:Hspa1a
|
UTSW |
17 |
35,191,033 (GRCm39) |
start gained |
probably benign |
|
|
R8944:Hspa1a
|
UTSW |
17 |
35,190,019 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9779:Hspa1a
|
UTSW |
17 |
35,190,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation