Incidental Mutation 'IGL01529:Hsph1'
ID |
89695 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hsph1
|
Ensembl Gene |
ENSMUSG00000029657 |
Gene Name |
heat shock 105kDa/110kDa protein 1 |
Synonyms |
HSP110, hsp110/105, hsp-E7I, Hsp105 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.618)
|
Stock # |
IGL01529
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
149537752-149559841 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 149559499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 15
(I15V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144413
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074846]
[ENSMUST00000200805]
[ENSMUST00000200825]
[ENSMUST00000201452]
[ENSMUST00000201559]
[ENSMUST00000202089]
[ENSMUST00000202361]
|
AlphaFold |
Q61699 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074846
AA Change: I15V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000074392 Gene: ENSMUSG00000029657 AA Change: I15V
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
709 |
7.3e-190 |
PFAM |
low complexity region
|
756 |
768 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200805
|
SMART Domains |
Protein: ENSMUSP00000143925 Gene: ENSMUSG00000029657
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
1 |
94 |
5.2e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200825
AA Change: I15V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000143913 Gene: ENSMUSG00000029657 AA Change: I15V
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
100 |
1.4e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201431
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201452
AA Change: I15V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000144654 Gene: ENSMUSG00000029657 AA Change: I15V
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
709 |
7.3e-190 |
PFAM |
low complexity region
|
756 |
768 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201559
|
SMART Domains |
Protein: ENSMUSP00000144043 Gene: ENSMUSG00000029657
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
1 |
144 |
2.1e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202089
AA Change: I15V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000144297 Gene: ENSMUSG00000029657 AA Change: I15V
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
103 |
1.3e-33 |
PFAM |
Pfam:HSP70
|
98 |
668 |
8.5e-135 |
PFAM |
low complexity region
|
715 |
727 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202361
AA Change: I15V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000144413 Gene: ENSMUSG00000029657 AA Change: I15V
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
709 |
7.3e-190 |
PFAM |
low complexity region
|
756 |
768 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201666
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this gene leads to decreased susceptibility to ischemic brain injury. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17c |
A |
T |
7: 83,800,622 (GRCm39) |
I144N |
possibly damaging |
Het |
Adamts19 |
T |
A |
18: 59,096,535 (GRCm39) |
H588Q |
probably damaging |
Het |
Ankrd2 |
A |
G |
19: 42,028,349 (GRCm39) |
K46E |
probably damaging |
Het |
Arhgap10 |
A |
C |
8: 78,072,920 (GRCm39) |
L513V |
possibly damaging |
Het |
Arhgef12 |
C |
A |
9: 42,901,351 (GRCm39) |
R817L |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,650,712 (GRCm39) |
N900K |
probably damaging |
Het |
Atp9b |
A |
T |
18: 80,887,826 (GRCm39) |
|
probably benign |
Het |
Cdc27 |
T |
C |
11: 104,398,042 (GRCm39) |
N773D |
probably damaging |
Het |
Cep97 |
A |
G |
16: 55,750,981 (GRCm39) |
|
probably benign |
Het |
Dgkd |
T |
C |
1: 87,808,133 (GRCm39) |
F67S |
probably damaging |
Het |
Dolk |
T |
C |
2: 30,175,749 (GRCm39) |
T99A |
probably benign |
Het |
Egfr |
A |
T |
11: 16,813,014 (GRCm39) |
R165W |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,172,982 (GRCm39) |
D2577V |
probably damaging |
Het |
Idh2 |
T |
C |
7: 79,747,693 (GRCm39) |
T276A |
probably benign |
Het |
Jag1 |
T |
C |
2: 136,926,897 (GRCm39) |
Y954C |
probably damaging |
Het |
Kat2a |
A |
T |
11: 100,602,735 (GRCm39) |
W118R |
probably damaging |
Het |
Kcnh6 |
G |
T |
11: 105,911,522 (GRCm39) |
R636L |
probably benign |
Het |
Klk1b16 |
G |
T |
7: 43,790,163 (GRCm39) |
K144N |
probably benign |
Het |
Lrrk2 |
T |
A |
15: 91,696,516 (GRCm39) |
L2435I |
possibly damaging |
Het |
Ltbp3 |
A |
G |
19: 5,797,867 (GRCm39) |
D502G |
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,178,359 (GRCm39) |
N1623K |
probably benign |
Het |
Mcm10 |
C |
A |
2: 5,013,439 (GRCm39) |
E64D |
probably benign |
Het |
Med13l |
A |
G |
5: 118,880,400 (GRCm39) |
N1164S |
probably damaging |
Het |
Myo1a |
A |
G |
10: 127,556,529 (GRCm39) |
N1025D |
probably benign |
Het |
Or2m12 |
A |
T |
16: 19,105,450 (GRCm39) |
D14E |
probably benign |
Het |
Or8g27 |
C |
T |
9: 39,129,427 (GRCm39) |
T258I |
probably benign |
Het |
Pdcd11 |
A |
G |
19: 47,098,068 (GRCm39) |
N785D |
probably benign |
Het |
Psmd8 |
A |
T |
7: 28,878,576 (GRCm39) |
I81N |
probably damaging |
Het |
Rigi |
G |
A |
4: 40,225,685 (GRCm39) |
H194Y |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,774,652 (GRCm39) |
G2330R |
probably damaging |
Het |
Scrib |
T |
C |
15: 75,921,084 (GRCm39) |
T80A |
possibly damaging |
Het |
Sergef |
A |
T |
7: 46,092,942 (GRCm39) |
W356R |
probably damaging |
Het |
Slc22a19 |
T |
C |
19: 7,660,300 (GRCm39) |
N370S |
probably damaging |
Het |
Syde1 |
A |
G |
10: 78,426,015 (GRCm39) |
S51P |
probably benign |
Het |
Umodl1 |
A |
T |
17: 31,215,233 (GRCm39) |
D1019V |
possibly damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,486,493 (GRCm39) |
M265T |
probably benign |
Het |
|
Other mutations in Hsph1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00539:Hsph1
|
APN |
5 |
149,542,254 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00839:Hsph1
|
APN |
5 |
149,541,919 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL00965:Hsph1
|
APN |
5 |
149,554,269 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01613:Hsph1
|
APN |
5 |
149,550,743 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02023:Hsph1
|
APN |
5 |
149,557,324 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02272:Hsph1
|
APN |
5 |
149,540,995 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02754:Hsph1
|
APN |
5 |
149,547,057 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0666:Hsph1
|
UTSW |
5 |
149,554,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R1061:Hsph1
|
UTSW |
5 |
149,541,883 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1163:Hsph1
|
UTSW |
5 |
149,554,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Hsph1
|
UTSW |
5 |
149,553,848 (GRCm39) |
missense |
probably benign |
0.03 |
R1794:Hsph1
|
UTSW |
5 |
149,554,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R1806:Hsph1
|
UTSW |
5 |
149,553,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R1847:Hsph1
|
UTSW |
5 |
149,546,950 (GRCm39) |
nonsense |
probably null |
|
R2143:Hsph1
|
UTSW |
5 |
149,554,951 (GRCm39) |
missense |
probably damaging |
0.99 |
R2144:Hsph1
|
UTSW |
5 |
149,553,802 (GRCm39) |
critical splice donor site |
probably null |
|
R2917:Hsph1
|
UTSW |
5 |
149,554,251 (GRCm39) |
nonsense |
probably null |
|
R3840:Hsph1
|
UTSW |
5 |
149,544,180 (GRCm39) |
splice site |
probably null |
|
R3841:Hsph1
|
UTSW |
5 |
149,544,180 (GRCm39) |
splice site |
probably null |
|
R4378:Hsph1
|
UTSW |
5 |
149,559,472 (GRCm39) |
nonsense |
probably null |
|
R4577:Hsph1
|
UTSW |
5 |
149,542,308 (GRCm39) |
missense |
probably benign |
0.03 |
R4618:Hsph1
|
UTSW |
5 |
149,542,308 (GRCm39) |
missense |
probably benign |
0.03 |
R4621:Hsph1
|
UTSW |
5 |
149,542,308 (GRCm39) |
missense |
probably benign |
0.03 |
R5898:Hsph1
|
UTSW |
5 |
149,548,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R6114:Hsph1
|
UTSW |
5 |
149,550,852 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6185:Hsph1
|
UTSW |
5 |
149,541,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R6432:Hsph1
|
UTSW |
5 |
149,542,441 (GRCm39) |
missense |
probably damaging |
0.99 |
R6678:Hsph1
|
UTSW |
5 |
149,541,962 (GRCm39) |
missense |
probably benign |
0.00 |
R7014:Hsph1
|
UTSW |
5 |
149,553,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R7189:Hsph1
|
UTSW |
5 |
149,553,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R7438:Hsph1
|
UTSW |
5 |
149,542,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R7502:Hsph1
|
UTSW |
5 |
149,553,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R7621:Hsph1
|
UTSW |
5 |
149,555,540 (GRCm39) |
missense |
probably damaging |
0.99 |
R7625:Hsph1
|
UTSW |
5 |
149,541,901 (GRCm39) |
missense |
probably benign |
0.00 |
R8480:Hsph1
|
UTSW |
5 |
149,551,029 (GRCm39) |
missense |
probably null |
1.00 |
R8841:Hsph1
|
UTSW |
5 |
149,550,789 (GRCm39) |
missense |
probably damaging |
0.97 |
R8858:Hsph1
|
UTSW |
5 |
149,548,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R9031:Hsph1
|
UTSW |
5 |
149,553,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R9371:Hsph1
|
UTSW |
5 |
149,543,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-03 |