Incidental Mutation 'R0866:Hspa8'
| ID |
82351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa8
|
| Ensembl Gene |
ENSMUSG00000015656 |
| Gene Name |
heat shock protein 8 |
| Synonyms |
Hsc70, Hsc73, Hsp73, 2410008N15Rik, Hsc71 |
| MMRRC Submission |
039040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R0866 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40712572-40716498 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 40713920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015800]
[ENSMUST00000117557]
[ENSMUST00000133964]
|
| AlphaFold |
P63017 |
| Predicted Effect |
probably null
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 null
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: ENSMUST00000140984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153847
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215526
|
| Meta Mutation Damage Score |
0.9500 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
G |
T |
6: 131,529,742 (GRCm39) |
R112L |
unknown |
Het |
| Abcd4 |
G |
T |
12: 84,658,507 (GRCm39) |
A232E |
probably damaging |
Het |
| Acsm5 |
T |
A |
7: 119,140,123 (GRCm39) |
I508N |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,132,156 (GRCm39) |
Q263R |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,879,451 (GRCm39) |
L1890P |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,363,384 (GRCm39) |
D560N |
probably damaging |
Het |
| Crb3 |
T |
A |
17: 57,369,743 (GRCm39) |
L17Q |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,115,098 (GRCm39) |
R78L |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,599,229 (GRCm39) |
C669S |
probably damaging |
Het |
| Gria2 |
A |
T |
3: 80,629,331 (GRCm39) |
|
probably benign |
Het |
| H2-M11 |
T |
C |
17: 36,859,829 (GRCm39) |
L274P |
probably benign |
Het |
| Hmox1 |
A |
G |
8: 75,823,931 (GRCm39) |
T200A |
probably benign |
Het |
| Isy1 |
C |
A |
6: 87,796,094 (GRCm39) |
R281L |
probably benign |
Het |
| Kiz |
C |
A |
2: 146,697,973 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,371,591 (GRCm39) |
K704R |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,375,147 (GRCm39) |
D4484E |
probably damaging |
Het |
| Lrrc7 |
C |
A |
3: 157,869,903 (GRCm39) |
|
probably benign |
Het |
| Mtmr14 |
T |
C |
6: 113,216,543 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,438,474 (GRCm39) |
V660E |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,570,513 (GRCm39) |
I1190T |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,376 (GRCm39) |
R318G |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,210,596 (GRCm39) |
T1739A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or5h18 |
C |
T |
16: 58,847,791 (GRCm39) |
V160I |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,126,957 (GRCm39) |
E722G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,662,656 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,277,923 (GRCm39) |
F413I |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,392,628 (GRCm39) |
Y24C |
probably damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,988 (GRCm39) |
S103P |
probably damaging |
Het |
| Rtn1 |
G |
T |
12: 72,355,156 (GRCm39) |
Y263* |
probably null |
Het |
| Slc22a1 |
T |
C |
17: 12,875,933 (GRCm39) |
E427G |
probably benign |
Het |
| Speg |
A |
G |
1: 75,393,727 (GRCm39) |
T1695A |
probably damaging |
Het |
| Tlx3 |
C |
A |
11: 33,153,315 (GRCm39) |
G49W |
probably damaging |
Het |
| Tor1b |
A |
G |
2: 30,846,928 (GRCm39) |
M292V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,854 (GRCm39) |
L128Q |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfc3h1 |
G |
A |
10: 115,263,621 (GRCm39) |
V1821I |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,477,272 (GRCm39) |
T3271S |
possibly damaging |
Het |
| Zfp386 |
G |
T |
12: 116,018,329 (GRCm39) |
|
probably benign |
Het |
| Zfp574 |
A |
T |
7: 24,779,323 (GRCm39) |
K115M |
probably 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 |
|
R3621:Hspa8
|
UTSW |
9 |
40,713,219 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
|
R4475:Hspa8
|
UTSW |
9 |
40,715,442 (GRCm39) |
unclassified |
probably benign |
|
|
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'- GCTTCCTGCACTAGAGATTACGTCC -3'
(R):5'- TGCCTGTCGCTGAGAGTCATTG -3'
Sequencing Primer
(F):5'- CAGGtttttgttttctgtttttttgg -3'
(R):5'- TGGTTGGCAAATTCCCGATC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation