Incidental Mutation 'R5096:Hspa8'
| ID |
388048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa8
|
| Ensembl Gene |
ENSMUSG00000015656 |
| Gene Name |
heat shock protein 8 |
| Synonyms |
Hsc70, Hsc73, Hsp73, 2410008N15Rik, Hsc71 |
| MMRRC Submission |
042685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R5096 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40712572-40716498 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 40714197 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 |
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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.6%
|
| Validation Efficiency |
95% (61/64) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
T |
14: 54,916,679 (GRCm39) |
|
probably benign |
Het |
| Adar |
T |
A |
3: 89,654,598 (GRCm39) |
*728C |
probably null |
Het |
| Ap3b1 |
A |
G |
13: 94,616,357 (GRCm39) |
R753G |
unknown |
Het |
| Atp9b |
C |
T |
18: 80,805,399 (GRCm39) |
V720I |
probably benign |
Het |
| AY358078 |
A |
C |
14: 52,063,575 (GRCm39) |
D407A |
probably benign |
Het |
| Ccdc185 |
A |
G |
1: 182,576,354 (GRCm39) |
S112P |
possibly damaging |
Het |
| Cir1 |
A |
G |
2: 73,134,105 (GRCm39) |
S155P |
probably damaging |
Het |
| Colq |
C |
T |
14: 31,274,911 (GRCm39) |
E76K |
possibly damaging |
Het |
| Cthrc1 |
T |
A |
15: 38,947,815 (GRCm39) |
I104N |
probably damaging |
Het |
| D930020B18Rik |
A |
T |
10: 121,503,709 (GRCm39) |
I92L |
probably benign |
Het |
| Eif3i |
C |
T |
4: 129,494,237 (GRCm39) |
E21K |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,137,234 (GRCm39) |
M59K |
probably benign |
Het |
| Fam163b |
A |
G |
2: 27,002,761 (GRCm39) |
S79P |
probably benign |
Het |
| Fam181b |
T |
G |
7: 92,730,452 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,821,460 (GRCm39) |
S5731N |
probably benign |
Het |
| Fzd9 |
C |
T |
5: 135,278,713 (GRCm39) |
V391I |
probably damaging |
Het |
| Gbp5 |
A |
G |
3: 142,207,122 (GRCm39) |
D97G |
probably damaging |
Het |
| Gm10715 |
T |
C |
9: 3,038,157 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
T |
12: 24,653,049 (GRCm39) |
K418M |
probably damaging |
Het |
| H2-Q4 |
T |
A |
17: 35,598,689 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
C |
A |
1: 150,486,420 (GRCm39) |
A4329S |
probably damaging |
Het |
| Ica1l |
T |
C |
1: 60,067,313 (GRCm39) |
T26A |
possibly damaging |
Het |
| Ifi209 |
T |
A |
1: 173,472,300 (GRCm39) |
N380K |
probably benign |
Het |
| Inpp5e |
G |
T |
2: 26,289,537 (GRCm39) |
N482K |
probably damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,363,657 (GRCm39) |
V866M |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,260 (GRCm39) |
V492A |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,068 (GRCm39) |
R647G |
probably benign |
Het |
| Lcmt1 |
T |
G |
7: 123,000,691 (GRCm39) |
V75G |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,316,137 (GRCm39) |
I752V |
possibly damaging |
Het |
| Mmp17 |
C |
A |
5: 129,682,627 (GRCm39) |
P422Q |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,464,254 (GRCm39) |
H165L |
probably benign |
Het |
| Nos3 |
C |
T |
5: 24,576,955 (GRCm39) |
T494I |
probably damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,815 (GRCm39) |
V228A |
possibly damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,646 (GRCm39) |
T190I |
possibly damaging |
Het |
| Or51q1c |
T |
C |
7: 103,652,667 (GRCm39) |
Y68H |
probably benign |
Het |
| Or8u8 |
A |
G |
2: 86,012,276 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,545,092 (GRCm39) |
V27G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,398,451 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
A |
G |
4: 111,839,152 (GRCm39) |
I149V |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,928,612 (GRCm39) |
I412K |
probably damaging |
Het |
| Snx19 |
T |
A |
9: 30,340,082 (GRCm39) |
C407S |
probably benign |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Sytl2 |
T |
A |
7: 90,025,290 (GRCm39) |
I426N |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,203,990 (GRCm39) |
|
probably benign |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,819 (GRCm39) |
E51G |
possibly damaging |
Het |
| Tmem221 |
A |
G |
8: 72,011,353 (GRCm39) |
L34P |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,669,862 (GRCm39) |
T90A |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,321,953 (GRCm39) |
D42G |
probably damaging |
Het |
| Wt1 |
A |
G |
2: 104,973,470 (GRCm39) |
T237A |
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 |
|
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 |
|
|
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'- ATTCTGATCGGGAATTTGCCAAC -3'
(R):5'- TGTCTCCAGCTGTTGATTTGAC -3'
Sequencing Primer
(F):5'- GGGAATTTGCCAACCAAACAATTGTG -3'
(R):5'- TTGACCTCAAAAATTCCATCCTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation