Incidental Mutation 'IGL00494:Hspa13'
| ID |
3954 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hspa13
|
| Ensembl Gene |
ENSMUSG00000032932 |
| Gene Name |
heat shock protein 70 family, member 13 |
| Synonyms |
Stch, B230217N24Rik, 60kDa, 1600002I10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.678)
|
| Stock # |
IGL00494
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
75552078-75564575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75554880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 402
(V402A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046283]
[ENSMUST00000114244]
[ENSMUST00000232633]
|
| AlphaFold |
Q8BM72 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046283
AA Change: V402A
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048817
Gene: ENSMUSG00000032932
AA Change: V402A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:HSP70
|
33 |
347 |
3.4e-79 |
PFAM |
|
Pfam:HSP70
|
349 |
460 |
5e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114244
|
| SMART Domains |
Protein: ENSMUSP00000109882
Gene: ENSMUSG00000032932
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:HSP70
|
33 |
260 |
1.2e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137806
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232633
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the heat shock protein 70 family and is found associated with microsomes. Members of this protein family play a role in the processing of cytosolic and secretory proteins, as well as in the removal of denatured or incorrectly-folded proteins. The encoded protein contains an ATPase domain and has been shown to associate with a ubiquitin-like protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,621,108 (GRCm39) |
T271A |
possibly damaging |
Het |
| Amer3 |
A |
G |
1: 34,627,608 (GRCm39) |
T616A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,818,907 (GRCm39) |
M1216K |
probably damaging |
Het |
| Clec16a |
A |
T |
16: 10,413,760 (GRCm39) |
K389M |
probably damaging |
Het |
| Grin2b |
T |
G |
6: 135,713,329 (GRCm39) |
M851L |
possibly damaging |
Het |
| Hapln1 |
T |
C |
13: 89,753,590 (GRCm39) |
V252A |
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,159,442 (GRCm39) |
Y454H |
probably damaging |
Het |
| Map3k21 |
G |
A |
8: 126,671,412 (GRCm39) |
S900N |
possibly damaging |
Het |
| Mdm1 |
C |
A |
10: 118,000,346 (GRCm39) |
H615N |
probably damaging |
Het |
| Meak7 |
T |
C |
8: 120,499,334 (GRCm39) |
K53E |
probably benign |
Het |
| Nabp1 |
A |
T |
1: 51,516,687 (GRCm39) |
D60E |
probably damaging |
Het |
| Nmur1 |
T |
C |
1: 86,314,084 (GRCm39) |
E361G |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,245,715 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
G |
12: 55,793,970 (GRCm39) |
D555A |
probably damaging |
Het |
| Rbbp4 |
T |
C |
4: 129,203,946 (GRCm39) |
E406G |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,266,174 (GRCm39) |
C587S |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,610,869 (GRCm39) |
N516K |
probably damaging |
Het |
| Taar7e |
T |
C |
10: 23,914,038 (GRCm39) |
I176T |
probably benign |
Het |
| Tex14 |
G |
T |
11: 87,446,310 (GRCm39) |
R1439S |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,316,039 (GRCm39) |
|
probably benign |
Het |
| Xntrpc |
T |
A |
7: 101,736,754 (GRCm39) |
L327Q |
probably damaging |
Het |
|
| Other mutations in Hspa13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03350:Hspa13
|
APN |
16 |
75,554,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Hspa13
|
UTSW |
16 |
75,562,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1018:Hspa13
|
UTSW |
16 |
75,558,164 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1029:Hspa13
|
UTSW |
16 |
75,562,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2043:Hspa13
|
UTSW |
16 |
75,555,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3404:Hspa13
|
UTSW |
16 |
75,554,914 (GRCm39) |
nonsense |
probably null |
|
|
R3766:Hspa13
|
UTSW |
16 |
75,561,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4596:Hspa13
|
UTSW |
16 |
75,555,114 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4610:Hspa13
|
UTSW |
16 |
75,558,190 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4839:Hspa13
|
UTSW |
16 |
75,562,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Hspa13
|
UTSW |
16 |
75,563,651 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5782:Hspa13
|
UTSW |
16 |
75,554,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6428:Hspa13
|
UTSW |
16 |
75,554,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Hspa13
|
UTSW |
16 |
75,562,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Hspa13
|
UTSW |
16 |
75,561,925 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6903:Hspa13
|
UTSW |
16 |
75,554,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Hspa13
|
UTSW |
16 |
75,555,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation