Incidental Mutation 'R1029:Hspa13'
| ID |
95178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa13
|
| Ensembl Gene |
ENSMUSG00000032932 |
| Gene Name |
heat shock protein 70 family, member 13 |
| Synonyms |
Stch, B230217N24Rik, 60kDa, 1600002I10Rik |
| MMRRC Submission |
039131-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.678)
|
| Stock # |
R1029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
75552078-75564575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75562125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 25
(Y25N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046283]
[ENSMUST00000114244]
[ENSMUST00000232633]
|
| AlphaFold |
Q8BM72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046283
AA Change: Y25N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048817
Gene: ENSMUSG00000032932
AA Change: Y25N
| 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 damaging
Transcript: ENSMUST00000114244
AA Change: Y25N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109882
Gene: ENSMUSG00000032932
AA Change: Y25N
| 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 |
noncoding transcript
Transcript: ENSMUST00000174952
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232633
AA Change: Y25N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2972 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
92% (36/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
A |
G |
11: 30,376,177 (GRCm39) |
L230S |
probably damaging |
Het |
| 4930505A04Rik |
A |
G |
11: 30,396,389 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,602,032 (GRCm39) |
I1648T |
probably damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,394,817 (GRCm39) |
F236S |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,230,782 (GRCm39) |
D363G |
possibly damaging |
Het |
| Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
| Cog7 |
C |
T |
7: 121,529,752 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
G |
1: 46,651,881 (GRCm39) |
K1365E |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,837,096 (GRCm39) |
|
probably null |
Het |
| Ehd3 |
T |
A |
17: 74,123,321 (GRCm39) |
I108N |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,348,773 (GRCm39) |
S535P |
probably damaging |
Het |
| Fam170a |
T |
C |
18: 50,414,741 (GRCm39) |
V129A |
probably damaging |
Het |
| Gfra3 |
T |
C |
18: 34,823,892 (GRCm39) |
T361A |
probably benign |
Het |
| Gm10295 |
A |
T |
7: 71,000,448 (GRCm39) |
I44K |
unknown |
Het |
| Gm10553 |
T |
C |
1: 85,078,170 (GRCm39) |
S96P |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Lrfn3 |
G |
A |
7: 30,055,347 (GRCm39) |
P533S |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,317,372 (GRCm39) |
|
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,911,639 (GRCm39) |
D1991G |
probably benign |
Het |
| Myoz1 |
A |
G |
14: 20,700,600 (GRCm39) |
Y206H |
probably damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,431 (GRCm39) |
I21F |
probably benign |
Het |
| Otog |
A |
G |
7: 45,924,019 (GRCm39) |
E1126G |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,472,613 (GRCm39) |
|
probably benign |
Het |
| Pttg1ip2 |
C |
T |
5: 5,505,919 (GRCm39) |
A121T |
probably benign |
Het |
| Rab7 |
A |
G |
6: 87,990,624 (GRCm39) |
S17P |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,765,514 (GRCm39) |
S203P |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,439 (GRCm39) |
I314T |
possibly damaging |
Het |
| Tgs1 |
T |
C |
4: 3,593,471 (GRCm39) |
I453T |
probably damaging |
Het |
| Tmem117 |
C |
A |
15: 94,909,217 (GRCm39) |
T210N |
probably benign |
Het |
| Trim55 |
A |
G |
3: 19,698,906 (GRCm39) |
N45S |
probably damaging |
Het |
| Ugt2b34 |
G |
C |
5: 87,052,246 (GRCm39) |
S250* |
probably null |
Het |
| Vmn2r67 |
G |
A |
7: 84,785,974 (GRCm39) |
T677I |
probably damaging |
Het |
| Zfp335 |
C |
G |
2: 164,734,598 (GRCm39) |
|
probably benign |
Het |
| Znrf1 |
T |
A |
8: 112,263,986 (GRCm39) |
Y72N |
probably damaging |
Het |
|
| Other mutations in Hspa13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Hspa13
|
APN |
16 |
75,554,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATACACATCACCGTCCGTGAAGG -3'
(R):5'- ACATACCAAAGCTGTCTCTGTGGGAA -3'
Sequencing Primer
(F):5'- CGTGAAGGACACCATGCTG -3'
(R):5'- CCCCGATGGAATGTTAAAAACTTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation