Incidental Mutation 'R3404:Hspa13'
| ID |
259305 |
| 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 |
040622-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.714)
|
| Stock # |
R3404 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
75552078-75564575 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 75554914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 391
(E391*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046283]
[ENSMUST00000114244]
[ENSMUST00000232633]
|
| AlphaFold |
Q8BM72 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046283
AA Change: E391*
|
| SMART Domains |
Protein: ENSMUSP00000048817
Gene: ENSMUSG00000032932
AA Change: E391*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
C |
T |
15: 64,571,449 (GRCm39) |
V1065M |
probably damaging |
Het |
| Alg12 |
A |
T |
15: 88,698,782 (GRCm39) |
I181N |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,682,252 (GRCm39) |
K1220* |
probably null |
Het |
| Apc |
A |
G |
18: 34,446,655 (GRCm39) |
T1150A |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,963,774 (GRCm39) |
S770N |
probably benign |
Het |
| Bcorl1 |
T |
A |
X: 47,459,884 (GRCm39) |
M1139K |
probably benign |
Het |
| Bdkrb2 |
T |
C |
12: 105,558,755 (GRCm39) |
V332A |
possibly damaging |
Het |
| Bnc2 |
G |
T |
4: 84,464,478 (GRCm39) |
N20K |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 86,034,089 (GRCm39) |
N544I |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,151,771 (GRCm39) |
V162A |
probably benign |
Het |
| Dnai1 |
A |
T |
4: 41,603,246 (GRCm39) |
E176D |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,343,968 (GRCm39) |
Q1771* |
probably null |
Het |
| Fezf1 |
A |
T |
6: 23,247,283 (GRCm39) |
V264D |
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,563,964 (GRCm39) |
|
probably benign |
Het |
| Hemk1 |
G |
A |
9: 107,214,415 (GRCm39) |
Q6* |
probably null |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,058 (GRCm39) |
T106S |
possibly damaging |
Het |
| Immp2l |
T |
A |
12: 41,160,846 (GRCm39) |
L48* |
probably null |
Het |
| Itgam |
A |
G |
7: 127,669,875 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,213,103 (GRCm39) |
V486D |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,309,204 (GRCm39) |
T416S |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,437,550 (GRCm39) |
C2104F |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,322,286 (GRCm39) |
D49G |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,695,687 (GRCm39) |
A24T |
unknown |
Het |
| Pzp |
G |
A |
6: 128,490,769 (GRCm39) |
T398M |
probably damaging |
Het |
| Rbfox3 |
T |
A |
11: 118,387,283 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Rnf146 |
A |
G |
10: 29,223,424 (GRCm39) |
V154A |
possibly damaging |
Het |
| Senp7 |
T |
A |
16: 56,008,640 (GRCm39) |
W1007R |
probably damaging |
Het |
| Snx31 |
C |
T |
15: 36,525,799 (GRCm39) |
C300Y |
probably benign |
Het |
| Ticrr |
G |
C |
7: 79,344,539 (GRCm39) |
S1468T |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,228,875 (GRCm39) |
E327G |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,946,157 (GRCm39) |
E149G |
probably damaging |
Het |
| Ube4a |
A |
G |
9: 44,840,985 (GRCm39) |
S979P |
probably damaging |
Het |
| Uvssa |
G |
T |
5: 33,547,162 (GRCm39) |
G243C |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,926,200 (GRCm39) |
S3834P |
probably damaging |
Het |
| Zfp609 |
A |
T |
9: 65,608,454 (GRCm39) |
M1142K |
possibly damaging |
Het |
| Zfp729b |
T |
G |
13: 67,739,283 (GRCm39) |
H994P |
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 |
|
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 |
|
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'- AAGCACTAACTTGGAGAGGCC -3'
(R):5'- TGACTCTGAACTGCCAAAAGAC -3'
Sequencing Primer
(F):5'- GCCAGGAGCCTCCATCAATC -3'
(R):5'- CCAGCTCACCCCAGGAGATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation