Incidental Mutation 'R6116:Hspa8'
| ID |
485123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa8
|
| Ensembl Gene |
ENSMUSG00000015656 |
| Gene Name |
heat shock protein 8 |
| Synonyms |
Hsc70, Hsc73, Hsp73, 2410008N15Rik, Hsc71 |
| MMRRC Submission |
044265-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R6116 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
40712572-40716498 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40716271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 581
(E581G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015800]
[ENSMUST00000117557]
[ENSMUST00000133964]
|
| AlphaFold |
P63017 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015800
AA Change: E600G
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000015800
Gene: ENSMUSG00000015656
AA Change: E600G
| 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 damaging
Transcript: ENSMUST00000117557
AA Change: E581G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113722
Gene: ENSMUSG00000015656
AA Change: E581G
| 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: ENSMUST00000138895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140984
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,990,327 (GRCm39) |
|
probably benign |
Het |
| Apc |
A |
T |
18: 34,449,508 (GRCm39) |
I2101F |
probably damaging |
Het |
| Bpifa3 |
G |
A |
2: 153,975,633 (GRCm39) |
V68I |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,261,864 (GRCm39) |
I878F |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,605,879 (GRCm39) |
M339K |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,809,161 (GRCm39) |
Y1321H |
probably damaging |
Het |
| Dsc1 |
G |
T |
18: 20,230,356 (GRCm39) |
D316E |
probably benign |
Het |
| Eno3 |
C |
T |
11: 70,552,401 (GRCm39) |
T351M |
possibly damaging |
Het |
| Erbb2 |
T |
A |
11: 98,318,225 (GRCm39) |
F487Y |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,657,810 (GRCm39) |
L652P |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,705,206 (GRCm39) |
M470K |
probably damaging |
Het |
| Gm15446 |
T |
A |
5: 110,090,902 (GRCm39) |
C385S |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,898,205 (GRCm39) |
D787G |
probably benign |
Het |
| Igkv12-44 |
T |
C |
6: 69,791,838 (GRCm39) |
T42A |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,679,939 (GRCm39) |
|
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,726,460 (GRCm39) |
E84G |
probably damaging |
Het |
| Lpar3 |
T |
A |
3: 145,946,352 (GRCm39) |
M10K |
possibly damaging |
Het |
| Lpin2 |
A |
G |
17: 71,550,925 (GRCm39) |
D695G |
probably damaging |
Het |
| Mosmo |
T |
A |
7: 120,325,418 (GRCm39) |
L7H |
probably damaging |
Het |
| Ms4a8a |
C |
T |
19: 11,058,436 (GRCm39) |
A9T |
unknown |
Het |
| Myb |
T |
C |
10: 21,030,653 (GRCm39) |
D48G |
probably damaging |
Het |
| Neurod6 |
T |
C |
6: 55,655,776 (GRCm39) |
Y287C |
probably damaging |
Het |
| Olr1 |
T |
A |
6: 129,476,947 (GRCm39) |
D106V |
probably damaging |
Het |
| Or11a4 |
A |
G |
17: 37,536,459 (GRCm39) |
T148A |
probably benign |
Het |
| Or8b4 |
A |
G |
9: 37,829,955 (GRCm39) |
M1V |
probably null |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,004,127 (GRCm39) |
Y505C |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,745,190 (GRCm39) |
I702F |
probably damaging |
Het |
| Slc16a11 |
T |
C |
11: 70,106,262 (GRCm39) |
F119L |
probably benign |
Het |
| Slc2a10 |
A |
C |
2: 165,359,623 (GRCm39) |
T496P |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,353,206 (GRCm39) |
Y181H |
probably damaging |
Het |
| Spata31e5 |
G |
A |
1: 28,817,780 (GRCm39) |
A84V |
probably benign |
Het |
| Stab2 |
G |
T |
10: 86,743,054 (GRCm39) |
P1185Q |
probably damaging |
Het |
| Tcf7l2 |
T |
A |
19: 55,907,446 (GRCm39) |
S335R |
probably damaging |
Het |
| Ttc41 |
G |
A |
10: 86,594,952 (GRCm39) |
|
probably null |
Het |
| Vmn2r32 |
A |
T |
7: 7,467,092 (GRCm39) |
I812N |
probably damaging |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
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 |
|
R4475:Hspa8
|
UTSW |
9 |
40,715,442 (GRCm39) |
unclassified |
probably benign |
|
|
R5096:Hspa8
|
UTSW |
9 |
40,714,197 (GRCm39) |
unclassified |
probably benign |
|
|
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'- ATGTTCATTCAGAAAAGGGCTGAG -3'
(R):5'- ACAAAGCTACACCTTCTTGGAC -3'
Sequencing Primer
(F):5'- TGAATGGTCCAAACATTCGCG -3'
(R):5'- GACTGACTTAATCCACCTCTTCAATG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation