Incidental Mutation 'R2853:Hspd1'
| ID |
252371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspd1
|
| Ensembl Gene |
ENSMUSG00000025980 |
| Gene Name |
heat shock protein 1 (chaperonin) |
| Synonyms |
Hsp60 |
| MMRRC Submission |
040446-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2853 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
55116994-55127402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55120256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 315
(D315E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027123]
[ENSMUST00000127861]
[ENSMUST00000144077]
|
| AlphaFold |
P63038 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027123
AA Change: D315E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027123
Gene: ENSMUSG00000025980
AA Change: D315E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
47 |
550 |
1.8e-87 |
PFAM |
|
low complexity region
|
557 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127861
|
| SMART Domains |
Protein: ENSMUSP00000119336
Gene: ENSMUSG00000025980
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
47 |
202 |
2.1e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144077
|
| SMART Domains |
Protein: ENSMUSP00000122947
Gene: ENSMUSG00000025980
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
47 |
142 |
1.2e-32 |
PFAM |
|
| Meta Mutation Damage Score |
0.8456 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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 chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a gene-trap allele exhibit embryonic lethality between E7.5 and E9.75 associated with growth retardation. Males heterozygous for a gene-trap allele produce fewer female offspring than expected. Heterozygotes develop a slowly progressive motor defect resembling spastic paraplegia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
C |
16: 8,418,832 (GRCm39) |
K142T |
probably damaging |
Het |
| Als2cl |
T |
C |
9: 110,723,203 (GRCm39) |
S636P |
probably damaging |
Het |
| Angptl7 |
T |
C |
4: 148,584,736 (GRCm39) |
E4G |
probably benign |
Het |
| Aph1c |
T |
C |
9: 66,741,764 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
T |
C |
11: 97,383,420 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Atosb |
A |
G |
4: 43,036,293 (GRCm39) |
L146P |
probably benign |
Het |
| Ccdc85a |
A |
G |
11: 28,342,942 (GRCm39) |
|
probably benign |
Het |
| Chchd1 |
T |
C |
14: 20,754,288 (GRCm39) |
S67P |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,435,645 (GRCm39) |
V1104I |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,907,355 (GRCm39) |
I644V |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
| Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Gpr62 |
T |
C |
9: 106,341,911 (GRCm39) |
E339G |
probably benign |
Het |
| Ids |
G |
T |
X: 69,396,776 (GRCm39) |
T329K |
probably damaging |
Het |
| Itga9 |
G |
A |
9: 118,465,604 (GRCm39) |
E153K |
probably damaging |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,427,003 (GRCm39) |
I1107T |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
| Mtm1 |
T |
G |
X: 70,345,389 (GRCm39) |
I437S |
probably damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,257,113 (GRCm39) |
V129I |
probably damaging |
Het |
| Ncs1 |
T |
C |
2: 31,177,329 (GRCm39) |
F169L |
probably damaging |
Het |
| Ndst2 |
T |
C |
14: 20,779,964 (GRCm39) |
E92G |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,742,124 (GRCm39) |
V164A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,128,526 (GRCm39) |
Q4059R |
probably benign |
Het |
| Scgb1b20 |
A |
C |
7: 33,072,949 (GRCm39) |
K52N |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,967,211 (GRCm39) |
Q171L |
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,809,597 (GRCm39) |
L612Q |
probably damaging |
Het |
| Srprb |
G |
A |
9: 103,076,038 (GRCm39) |
Q800* |
probably null |
Het |
| Ss18l1 |
A |
G |
2: 179,699,914 (GRCm39) |
Y258C |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,063,386 (GRCm39) |
K1567R |
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,622,967 (GRCm39) |
F122S |
probably damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
|
| Other mutations in Hspd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01434:Hspd1
|
APN |
1 |
55,120,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01896:Hspd1
|
APN |
1 |
55,118,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03295:Hspd1
|
APN |
1 |
55,119,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0035:Hspd1
|
UTSW |
1 |
55,122,942 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0051:Hspd1
|
UTSW |
1 |
55,121,205 (GRCm39) |
unclassified |
probably benign |
|
|
R0051:Hspd1
|
UTSW |
1 |
55,121,205 (GRCm39) |
unclassified |
probably benign |
|
|
R1326:Hspd1
|
UTSW |
1 |
55,119,418 (GRCm39) |
splice site |
probably null |
|
|
R2163:Hspd1
|
UTSW |
1 |
55,117,697 (GRCm39) |
unclassified |
probably benign |
|
|
R2851:Hspd1
|
UTSW |
1 |
55,120,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2852:Hspd1
|
UTSW |
1 |
55,120,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4196:Hspd1
|
UTSW |
1 |
55,126,068 (GRCm39) |
missense |
probably benign |
|
|
R5590:Hspd1
|
UTSW |
1 |
55,123,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Hspd1
|
UTSW |
1 |
55,123,766 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6600:Hspd1
|
UTSW |
1 |
55,117,777 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7120:Hspd1
|
UTSW |
1 |
55,118,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7604:Hspd1
|
UTSW |
1 |
55,119,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7814:Hspd1
|
UTSW |
1 |
55,117,803 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7980:Hspd1
|
UTSW |
1 |
55,117,785 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8059:Hspd1
|
UTSW |
1 |
55,120,883 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8472:Hspd1
|
UTSW |
1 |
55,117,505 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8709:Hspd1
|
UTSW |
1 |
55,120,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9466:Hspd1
|
UTSW |
1 |
55,119,483 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Hspd1
|
UTSW |
1 |
55,119,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAATACCTGTGTACCAAGC -3'
(R):5'- TTTCAGACCAGGAGTTGTGG -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- TTCAGACCAGGAGTTGTGGGAAAAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation