Incidental Mutation 'R3908:Hspa1a'
| ID |
310305 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3908 (G1)
|
| Quality Score |
157 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35188335-35191132 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35190703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 67
(V67M)
|
| 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: V67M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084586
Gene: ENSMUSG00000091971
AA Change: V67M
| 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 |
|
| Meta Mutation Damage Score |
0.6264 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,067,151 (GRCm39) |
V1352A |
possibly damaging |
Het |
| Abcb7 |
G |
T |
X: 103,327,765 (GRCm39) |
Q715K |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,870,532 (GRCm39) |
D74G |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,083,257 (GRCm39) |
V748A |
possibly damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Il22 |
C |
T |
10: 118,041,529 (GRCm39) |
R81* |
probably null |
Het |
| Jak2 |
T |
A |
19: 29,268,673 (GRCm39) |
L583Q |
probably damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,379,169 (GRCm39) |
I287V |
probably damaging |
Het |
| Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
| Matr3 |
C |
T |
18: 35,705,894 (GRCm39) |
P273L |
probably damaging |
Het |
| Mpp4 |
T |
A |
1: 59,188,196 (GRCm39) |
H183L |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,661,885 (GRCm39) |
|
probably null |
Het |
| Or52h7 |
T |
C |
7: 104,213,848 (GRCm39) |
I140T |
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,770,470 (GRCm39) |
S617P |
probably damaging |
Het |
| Psmb1 |
T |
C |
17: 15,710,543 (GRCm39) |
Y2C |
probably damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Serpinb9f |
A |
G |
13: 33,511,919 (GRCm39) |
T141A |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,910,875 (GRCm39) |
|
probably null |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
| Zbtb12 |
A |
T |
17: 35,115,244 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Hspa1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01554:Hspa1a
|
APN |
17 |
35,189,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACCATGGACGAGATCTC -3'
(R):5'- TTCCATCCAGAGACAAGCG -3'
Sequencing Primer
(F):5'- GAGATCTCCTCCGGGAAGAAC -3'
(R):5'- TTCCAGAAGCAGAGCGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation