Incidental Mutation 'R3909:Hspa1a'
| ID |
309318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa1a
|
| Ensembl Gene |
ENSMUSG00000091971 |
| Gene Name |
heat shock protein 1A |
| Synonyms |
Hsp68, Hsp70a1, Hsp70.3, Hsp70-3 |
| MMRRC Submission |
040814-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3909 (G1)
|
| Quality Score |
192 |
|
Status
|
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: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,625,125 (GRCm39) |
F501Y |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,204,906 (GRCm39) |
T1089A |
probably benign |
Het |
| Ankrd12 |
G |
T |
17: 66,291,000 (GRCm39) |
P1478T |
probably benign |
Het |
| Arhgap39 |
A |
G |
15: 76,636,088 (GRCm39) |
V49A |
probably benign |
Het |
| Arid4b |
T |
C |
13: 14,307,069 (GRCm39) |
L108P |
probably damaging |
Het |
| Atrn |
T |
A |
2: 130,836,127 (GRCm39) |
C1136S |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,970 (GRCm39) |
S446P |
probably damaging |
Het |
| Cngb3 |
G |
A |
4: 19,461,679 (GRCm39) |
C520Y |
probably damaging |
Het |
| Crim1 |
C |
T |
17: 78,588,668 (GRCm39) |
|
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,806,802 (GRCm39) |
P71S |
possibly damaging |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Gbp3 |
C |
T |
3: 142,272,099 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,387,804 (GRCm39) |
D1642G |
possibly damaging |
Het |
| Hyls1 |
T |
C |
9: 35,472,705 (GRCm39) |
D237G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,403,235 (GRCm39) |
T732M |
unknown |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,182 (GRCm39) |
T229S |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,497,357 (GRCm39) |
E291G |
probably damaging |
Het |
| Or5w18 |
T |
A |
2: 87,633,031 (GRCm39) |
F95L |
probably benign |
Het |
| Or5w20 |
T |
A |
2: 87,727,293 (GRCm39) |
|
probably null |
Het |
| Prps1l1 |
A |
T |
12: 35,035,797 (GRCm39) |
H304L |
possibly damaging |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Rlf |
G |
A |
4: 121,006,229 (GRCm39) |
T917I |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,466,953 (GRCm39) |
D4704G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,104,332 (GRCm39) |
I1643F |
probably damaging |
Het |
| Vmn2r38 |
T |
C |
7: 9,078,553 (GRCm39) |
K610E |
probably damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,255,806 (GRCm39) |
F1486L |
probably benign |
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 |
|
R3908: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