Incidental Mutation 'R4475:Hspa8'
| ID |
330521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa8
|
| Ensembl Gene |
ENSMUSG00000015656 |
| Gene Name |
heat shock protein 8 |
| Synonyms |
Hsc70, Hsc73, Hsp73, 2410008N15Rik, Hsc71 |
| MMRRC Submission |
041732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R4475 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40712572-40716498 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 40715442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015800]
[ENSMUST00000117557]
[ENSMUST00000133964]
|
| AlphaFold |
P63017 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015800
|
| SMART Domains |
Protein: ENSMUSP00000015800
Gene: ENSMUSG00000015656
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
6 |
612 |
2.3e-272 |
PFAM |
|
Pfam:MreB_Mbl
|
117 |
383 |
5.3e-19 |
PFAM |
|
low complexity region
|
613 |
640 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101927
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117557
|
| SMART Domains |
Protein: ENSMUSP00000113722
Gene: ENSMUSG00000015656
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
6 |
593 |
3e-255 |
PFAM |
|
low complexity region
|
594 |
621 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117870
|
| SMART Domains |
Protein: ENSMUSP00000114081
Gene: ENSMUSG00000015656
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
6 |
118 |
2.1e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133964
|
| SMART Domains |
Protein: ENSMUSP00000117285
Gene: ENSMUSG00000015656
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
6 |
116 |
2.5e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the heat shock protein 70 family, which contains both heat-inducible and constitutively expressed members. This protein belongs to the latter group, which are also referred to as heat-shock cognate proteins. It functions as a chaperone, and binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
A |
16: 14,407,227 (GRCm39) |
I52N |
possibly damaging |
Het |
| Adgra3 |
A |
T |
5: 50,159,240 (GRCm39) |
Y337N |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,871 (GRCm39) |
L11P |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,188,426 (GRCm39) |
F1947L |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,817 (GRCm39) |
I114T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,094,544 (GRCm39) |
T904A |
probably damaging |
Het |
| Dbh |
T |
A |
2: 27,070,984 (GRCm39) |
|
probably null |
Het |
| Dgkh |
T |
C |
14: 78,827,318 (GRCm39) |
D858G |
possibly damaging |
Het |
| Dlx5 |
T |
C |
6: 6,881,663 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
| Epg5 |
A |
C |
18: 77,991,723 (GRCm39) |
D140A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,180,716 (GRCm39) |
D402N |
probably benign |
Het |
| Hells |
A |
G |
19: 38,933,973 (GRCm39) |
T265A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Ighm |
A |
G |
12: 113,384,513 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Nrxn1 |
G |
T |
17: 91,009,410 (GRCm39) |
N388K |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,824 (GRCm39) |
Y320* |
probably null |
Het |
| Or10j2 |
T |
C |
1: 173,098,480 (GRCm39) |
V246A |
probably damaging |
Het |
| Or9s27 |
T |
C |
1: 92,516,301 (GRCm39) |
V83A |
probably benign |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,235,170 (GRCm39) |
L809P |
probably damaging |
Het |
| Plek |
C |
T |
11: 16,935,528 (GRCm39) |
|
probably null |
Het |
| Prg4 |
T |
C |
1: 150,330,610 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
T |
C |
1: 9,615,810 (GRCm39) |
L21P |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Smpd5 |
T |
C |
15: 76,178,926 (GRCm39) |
L98P |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,155 (GRCm39) |
K34E |
possibly damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,609,080 (GRCm39) |
V719A |
possibly damaging |
Het |
| Tmem52b |
C |
T |
6: 129,491,219 (GRCm39) |
H37Y |
probably benign |
Het |
| Tnip1 |
A |
G |
11: 54,830,422 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,267,009 (GRCm39) |
Y457H |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,975 (GRCm39) |
I2600T |
possibly damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp365 |
C |
A |
10: 67,724,750 (GRCm39) |
K379N |
possibly damaging |
Het |
|
| Other mutations in Hspa8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03388:Hspa8
|
APN |
9 |
40,716,224 (GRCm39) |
unclassified |
probably benign |
|
|
R0006:Hspa8
|
UTSW |
9 |
40,715,925 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0799:Hspa8
|
UTSW |
9 |
40,715,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0866:Hspa8
|
UTSW |
9 |
40,713,920 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3621:Hspa8
|
UTSW |
9 |
40,713,219 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
|
R5096:Hspa8
|
UTSW |
9 |
40,714,197 (GRCm39) |
unclassified |
probably benign |
|
|
R6116:Hspa8
|
UTSW |
9 |
40,716,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6363:Hspa8
|
UTSW |
9 |
40,714,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7067:Hspa8
|
UTSW |
9 |
40,715,921 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7310:Hspa8
|
UTSW |
9 |
40,714,704 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7549:Hspa8
|
UTSW |
9 |
40,714,255 (GRCm39) |
splice site |
probably null |
|
|
R7998:Hspa8
|
UTSW |
9 |
40,715,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8268:Hspa8
|
UTSW |
9 |
40,714,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8329:Hspa8
|
UTSW |
9 |
40,713,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8548:Hspa8
|
UTSW |
9 |
40,713,767 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Hspa8
|
UTSW |
9 |
40,714,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Hspa8
|
UTSW |
9 |
40,714,098 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGCTTGTATAGAAAGCCCAGG -3'
(R):5'- ACCCTTGTCATTGGTGATGG -3'
Sequencing Primer
(F):5'- TATAGAAAGCCCAGGGAAGTTCCTC -3'
(R):5'- CTGTGCTCTTATCTACAGCAGAAAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation