Incidental Mutation 'IGL02977:Hspe1'
| ID |
406424 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hspe1
|
| Ensembl Gene |
ENSMUSG00000073676 |
| Gene Name |
heat shock protein 1 (chaperonin 10) |
| Synonyms |
Hsp10, mitochondrial chaperonin 10 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL02977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
55127307-55130476 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55130232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 88
(Y88H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027123]
[ENSMUST00000075242]
[ENSMUST00000127861]
[ENSMUST00000144077]
|
| AlphaFold |
Q64433 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027123
|
| SMART Domains |
Protein: ENSMUSP00000027123
Gene: ENSMUSG00000025980
| 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: ENSMUST00000075242
AA Change: Y88H
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074724
Gene: ENSMUSG00000073676
AA Change: Y88H
| Domain | Start | End | E-Value | Type |
|---|
|
Cpn10
|
8 |
100 |
2.91e-39 |
SMART |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000134628
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
C |
T |
8: 125,587,930 (GRCm39) |
V57M |
probably benign |
Het |
| 4933440M02Rik |
T |
A |
7: 124,930,874 (GRCm39) |
|
noncoding transcript |
Het |
| Bmp5 |
A |
G |
9: 75,801,081 (GRCm39) |
T404A |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,985,976 (GRCm39) |
V1660A |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,387,069 (GRCm39) |
Y2121* |
probably null |
Het |
| Daam1 |
G |
A |
12: 71,990,946 (GRCm39) |
A187T |
unknown |
Het |
| Dnaja4 |
T |
C |
9: 54,621,794 (GRCm39) |
L343P |
possibly damaging |
Het |
| Dym |
T |
C |
18: 75,196,246 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
T |
1: 164,021,590 (GRCm39) |
D1355V |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,863,797 (GRCm39) |
T2523M |
possibly damaging |
Het |
| Gcnt1 |
A |
T |
19: 17,306,738 (GRCm39) |
I329N |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,768 (GRCm39) |
|
noncoding transcript |
Het |
| Hdgfl2 |
A |
G |
17: 56,406,319 (GRCm39) |
N569S |
possibly damaging |
Het |
| Hivep1 |
T |
C |
13: 42,309,412 (GRCm39) |
S551P |
possibly damaging |
Het |
| Hpse2 |
G |
A |
19: 42,777,561 (GRCm39) |
|
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,445,016 (GRCm39) |
M312K |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 40,620,747 (GRCm39) |
D3577A |
probably damaging |
Het |
| Mapk13 |
G |
T |
17: 28,995,322 (GRCm39) |
G181V |
probably damaging |
Het |
| Oprl1 |
G |
T |
2: 181,360,304 (GRCm39) |
C115F |
probably damaging |
Het |
| Or4d1 |
A |
G |
11: 87,804,956 (GRCm39) |
S259P |
possibly damaging |
Het |
| Or5d37 |
T |
C |
2: 87,923,915 (GRCm39) |
I122V |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,453,524 (GRCm39) |
D112G |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,265,599 (GRCm39) |
I395N |
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,674,120 (GRCm39) |
S823P |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,103,484 (GRCm39) |
L538P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,422,235 (GRCm39) |
Y216N |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tonsl |
T |
A |
15: 76,517,073 (GRCm39) |
Q882L |
probably benign |
Het |
| Trav13-2 |
C |
T |
14: 53,872,764 (GRCm39) |
T80I |
probably damaging |
Het |
| Uaca |
C |
T |
9: 60,773,662 (GRCm39) |
P388S |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,607,748 (GRCm39) |
R439G |
possibly damaging |
Het |
| Vmn2r18 |
C |
A |
5: 151,510,149 (GRCm39) |
A75S |
probably damaging |
Het |
|
| Other mutations in Hspe1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02442:Hspe1
|
APN |
1 |
55,128,201 (GRCm39) |
unclassified |
probably benign |
|
|
Shock
|
UTSW |
1 |
55,129,860 (GRCm39) |
splice site |
probably null |
|
|
R4712:Hspe1
|
UTSW |
1 |
55,128,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6279:Hspe1
|
UTSW |
1 |
55,129,860 (GRCm39) |
splice site |
probably null |
|
|
R6300:Hspe1
|
UTSW |
1 |
55,129,860 (GRCm39) |
splice site |
probably null |
|
|
R7041:Hspe1
|
UTSW |
1 |
55,128,376 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7121:Hspe1
|
UTSW |
1 |
55,128,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9136:Hspe1
|
UTSW |
1 |
55,128,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation