Incidental Mutation 'R4453:Hspa1a'
| ID |
329063 |
| 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 |
041152-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4453 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35188335-35191132 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35189269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 545
(Y545H)
|
| 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 benign
Transcript: ENSMUST00000087328
AA Change: Y545H
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000084586
Gene: ENSMUSG00000091971
AA Change: Y545H
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
A |
G |
1: 93,322,075 (GRCm39) |
D361G |
probably damaging |
Het |
| Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
| Ccdc86 |
G |
T |
19: 10,925,883 (GRCm39) |
P239T |
probably damaging |
Het |
| Ces2h |
G |
A |
8: 105,741,288 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,379,190 (GRCm39) |
S43R |
probably damaging |
Het |
| Cpne6 |
G |
A |
14: 55,750,054 (GRCm39) |
V62M |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,642,664 (GRCm39) |
C161R |
probably damaging |
Het |
| Dnajc10 |
T |
C |
2: 80,176,967 (GRCm39) |
S641P |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Grm2 |
G |
A |
9: 106,531,078 (GRCm39) |
T137I |
probably damaging |
Het |
| Gusb |
A |
G |
5: 130,027,324 (GRCm39) |
V327A |
possibly damaging |
Het |
| Helz |
C |
T |
11: 107,563,455 (GRCm39) |
Q1631* |
probably null |
Het |
| Hus1 |
A |
T |
11: 8,956,035 (GRCm39) |
M166K |
probably damaging |
Het |
| Kcnh1 |
C |
A |
1: 192,187,825 (GRCm39) |
T762K |
probably damaging |
Het |
| Limd1 |
C |
A |
9: 123,309,359 (GRCm39) |
Q353K |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,097,115 (GRCm39) |
K276I |
probably damaging |
Het |
| Ntpcr |
G |
A |
8: 126,462,929 (GRCm39) |
V49I |
probably benign |
Het |
| Or6c70 |
T |
C |
10: 129,710,530 (GRCm39) |
N32S |
probably null |
Het |
| Ppp1r1c |
A |
G |
2: 79,538,575 (GRCm39) |
I20V |
possibly damaging |
Het |
| Prdm13 |
G |
T |
4: 21,679,464 (GRCm39) |
A342E |
unknown |
Het |
| Prkd3 |
C |
A |
17: 79,290,975 (GRCm39) |
R180L |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,099,274 (GRCm39) |
F1593L |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,155,603 (GRCm39) |
C95S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,272 (GRCm39) |
M1510V |
probably benign |
Het |
| Taf12 |
A |
G |
4: 132,010,306 (GRCm39) |
I92V |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
G |
A |
15: 76,258,743 (GRCm39) |
R48C |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,482,680 (GRCm39) |
|
probably null |
Het |
| Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
| Zfp473 |
T |
A |
7: 44,382,678 (GRCm39) |
T552S |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
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 |
|
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 |
|
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'- AATCCACCTCCTCGATGGTG -3'
(R):5'- AGATCGAGGTGACCTTCGAC -3'
Sequencing Primer
(F):5'- ACTGATGATGGGGCTGCAC -3'
(R):5'- CGGCATCCTGAACGTCAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation