Incidental Mutation 'R3906:Hspa1a'
| ID |
309208 |
| 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 |
040813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3906 (G1)
|
| Quality Score |
191 |
|
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: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (36/37) |
| 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: 39 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 |
| Ank2 |
A |
G |
3: 126,810,547 (GRCm39) |
L513P |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
| Cd1d1 |
A |
G |
3: 86,906,063 (GRCm39) |
W71R |
probably damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,103,427 (GRCm39) |
F397L |
probably damaging |
Het |
| Ces2a |
A |
G |
8: 105,465,940 (GRCm39) |
I325V |
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,186,585 (GRCm39) |
V140M |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,754,926 (GRCm39) |
|
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Dsg3 |
G |
A |
18: 20,671,556 (GRCm39) |
G754R |
probably damaging |
Het |
| Endod1 |
T |
A |
9: 14,292,151 (GRCm39) |
Y39F |
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Fpr2 |
A |
G |
17: 18,113,811 (GRCm39) |
K269R |
probably benign |
Het |
| Frk |
T |
G |
10: 34,460,052 (GRCm39) |
L216V |
probably benign |
Het |
| Gan |
G |
A |
8: 117,920,873 (GRCm39) |
V370M |
probably damaging |
Het |
| Grik1 |
A |
G |
16: 87,803,337 (GRCm39) |
I285T |
probably benign |
Het |
| Kbtbd8 |
T |
A |
6: 95,103,565 (GRCm39) |
Y405N |
probably damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Kif26a |
T |
A |
12: 112,143,324 (GRCm39) |
S1193T |
probably benign |
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 |
| Lrrk1 |
G |
T |
7: 65,944,651 (GRCm39) |
T653K |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 25,046,922 (GRCm39) |
Y182C |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,194,412 (GRCm39) |
D739G |
probably benign |
Het |
| Ninl |
T |
C |
2: 150,822,039 (GRCm39) |
D21G |
probably damaging |
Het |
| Or11g27 |
C |
T |
14: 50,771,211 (GRCm39) |
T114I |
probably benign |
Het |
| Or9i16 |
C |
T |
19: 13,865,070 (GRCm39) |
C168Y |
probably damaging |
Het |
| Pacsin2 |
A |
C |
15: 83,263,256 (GRCm39) |
V125G |
probably damaging |
Het |
| Pfas |
G |
A |
11: 68,879,112 (GRCm39) |
|
probably benign |
Het |
| Pla2g4f |
C |
T |
2: 120,130,980 (GRCm39) |
R825Q |
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,435,209 (GRCm39) |
V506E |
possibly damaging |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,753,095 (GRCm39) |
D1742V |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,235,466 (GRCm39) |
|
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,631 (GRCm39) |
T160A |
possibly damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,772 (GRCm39) |
T378A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACCATGGACGAGATCTC -3'
(R):5'- GTTCCATCCAGAGACAAGCG -3'
Sequencing Primer
(F):5'- GAGATCTCCTCCGGGAAGAAC -3'
(R):5'- TTCCAGAAGCAGAGCGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation