Incidental Mutation 'R3766:Hspa13'
ID |
274722 |
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 |
040743-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.678)
|
Stock # |
R3766 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
75552078-75564575 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75561974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 75
(D75G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046283]
[ENSMUST00000114244]
[ENSMUST00000232633]
|
AlphaFold |
Q8BM72 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046283
AA Change: D75G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000048817 Gene: ENSMUSG00000032932 AA Change: D75G
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
AA Change: D75G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000109882 Gene: ENSMUSG00000032932 AA Change: D75G
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 benign
Transcript: ENSMUST00000232633
AA Change: D75G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.1075 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (41/42) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
C |
T |
5: 125,583,326 (GRCm39) |
T294M |
probably damaging |
Het |
Brf2 |
G |
T |
8: 27,614,496 (GRCm39) |
T230N |
possibly damaging |
Het |
Ccne2 |
A |
G |
4: 11,199,293 (GRCm39) |
|
probably benign |
Het |
Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
Cttnbp2nl |
G |
A |
3: 104,912,117 (GRCm39) |
T589I |
probably benign |
Het |
Dock10 |
A |
G |
1: 80,514,643 (GRCm39) |
S1091P |
probably damaging |
Het |
Fh1 |
A |
G |
1: 175,442,316 (GRCm39) |
V178A |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 8,003,253 (GRCm39) |
S111P |
probably damaging |
Het |
Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
Gm29394 |
C |
T |
15: 57,912,024 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,813,572 (GRCm39) |
D2601G |
probably damaging |
Het |
Itgav |
T |
C |
2: 83,632,229 (GRCm39) |
|
probably null |
Het |
Kif6 |
A |
T |
17: 50,065,671 (GRCm39) |
|
probably benign |
Het |
Lypla1 |
G |
A |
1: 4,911,201 (GRCm39) |
R104Q |
probably benign |
Het |
Map1b |
T |
C |
13: 99,570,595 (GRCm39) |
K709E |
unknown |
Het |
Or52l1 |
A |
T |
7: 104,830,088 (GRCm39) |
I159K |
probably damaging |
Het |
Or56b1b |
G |
A |
7: 108,164,402 (GRCm39) |
P200L |
probably benign |
Het |
Pcdhb16 |
A |
T |
18: 37,611,249 (GRCm39) |
K70* |
probably null |
Het |
Pex5l |
T |
G |
3: 33,061,327 (GRCm39) |
D174A |
probably benign |
Het |
Plac8l1 |
A |
T |
18: 42,313,460 (GRCm39) |
M94K |
probably benign |
Het |
Plxna1 |
T |
C |
6: 89,311,757 (GRCm39) |
|
probably benign |
Het |
Psg26 |
T |
C |
7: 18,208,996 (GRCm39) |
T471A |
probably benign |
Het |
Pus3 |
C |
A |
9: 35,477,968 (GRCm39) |
T400K |
probably benign |
Het |
Pxk |
T |
C |
14: 8,136,863 (GRCm38) |
|
probably benign |
Het |
Rapgef2 |
T |
C |
3: 78,996,057 (GRCm39) |
T569A |
probably benign |
Het |
Sall4 |
T |
C |
2: 168,597,964 (GRCm39) |
Q292R |
possibly damaging |
Het |
Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
Slc45a1 |
T |
C |
4: 150,722,517 (GRCm39) |
R456G |
probably damaging |
Het |
Sox13 |
T |
C |
1: 133,318,536 (GRCm39) |
R81G |
possibly damaging |
Het |
Spag9 |
A |
G |
11: 93,951,109 (GRCm39) |
|
probably benign |
Het |
Ston1 |
C |
T |
17: 88,942,788 (GRCm39) |
P65S |
probably damaging |
Het |
Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
Tcim |
T |
A |
8: 24,928,765 (GRCm39) |
R50W |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
Trim59 |
A |
G |
3: 68,944,137 (GRCm39) |
V401A |
probably benign |
Het |
Trpm3 |
A |
C |
19: 22,425,741 (GRCm39) |
Q32P |
probably benign |
Het |
Tubgcp5 |
T |
A |
7: 55,480,614 (GRCm39) |
M1018K |
probably damaging |
Het |
Ube2o |
A |
G |
11: 116,437,689 (GRCm39) |
|
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Uvrag |
G |
T |
7: 98,537,350 (GRCm39) |
S615* |
probably null |
Het |
Vmn2r6 |
T |
A |
3: 64,463,929 (GRCm39) |
I302L |
probably benign |
Het |
Vmn2r73 |
C |
T |
7: 85,521,198 (GRCm39) |
V257I |
probably benign |
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 |
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 |
|
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'- GCTGCTGTGGGATTTCTCAC -3'
(R):5'- GCAGGTTCAGCTGTTTTGAC -3'
Sequencing Primer
(F):5'- TCACTGAGAGAATACAATTCCCTG -3'
(R):5'- TGACTCTCCTCTTGGCGGG -3'
|
Posted On |
2015-04-02 |