Incidental Mutation 'IGL00965:Hsph1'
ID |
27502 |
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 # |
IGL00965
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
149537752-149559841 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 149554269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 162
(I162N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144413
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074846]
[ENSMUST00000200805]
[ENSMUST00000200825]
[ENSMUST00000201452]
[ENSMUST00000201559]
[ENSMUST00000202361]
[ENSMUST00000202089]
|
AlphaFold |
Q61699 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074846
AA Change: I162N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000074392 Gene: ENSMUSG00000029657 AA Change: I162N
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 damaging
Transcript: ENSMUST00000200805
AA Change: I69N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143925 Gene: ENSMUSG00000029657 AA Change: I69N
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
1 |
94 |
5.2e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200825
|
SMART Domains |
Protein: ENSMUSP00000143913 Gene: ENSMUSG00000029657
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
100 |
1.4e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201431
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201452
AA Change: I162N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000144654 Gene: ENSMUSG00000029657 AA Change: I162N
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
709 |
7.3e-190 |
PFAM |
low complexity region
|
756 |
768 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201559
AA Change: I69N
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144043 Gene: ENSMUSG00000029657 AA Change: I69N
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
1 |
144 |
2.1e-58 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201666
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202361
AA Change: I162N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000144413 Gene: ENSMUSG00000029657 AA Change: I162N
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 damaging
Transcript: ENSMUST00000202089
AA Change: I121N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000144297 Gene: ENSMUSG00000029657 AA Change: I121N
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 |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot8 |
C |
T |
2: 164,646,735 (GRCm39) |
M1I |
probably null |
Het |
Adam33 |
T |
C |
2: 130,896,183 (GRCm39) |
|
probably benign |
Het |
Adgrl1 |
C |
T |
8: 84,664,332 (GRCm39) |
T1236I |
probably damaging |
Het |
Ago4 |
A |
G |
4: 126,387,107 (GRCm39) |
V832A |
probably benign |
Het |
Ankrd26 |
G |
T |
6: 118,536,319 (GRCm39) |
Y91* |
probably null |
Het |
Atp9a |
C |
A |
2: 168,482,600 (GRCm39) |
V845L |
probably benign |
Het |
Cfap100 |
C |
T |
6: 90,392,787 (GRCm39) |
E108K |
probably benign |
Het |
Chrdl2 |
T |
A |
7: 99,655,860 (GRCm39) |
|
probably null |
Het |
Cibar2 |
T |
C |
8: 120,893,429 (GRCm39) |
Q254R |
probably benign |
Het |
Cilk1 |
A |
G |
9: 78,071,821 (GRCm39) |
I498V |
probably benign |
Het |
Erbb4 |
A |
T |
1: 68,110,789 (GRCm39) |
L1008* |
probably null |
Het |
Gm42688 |
C |
T |
6: 83,080,373 (GRCm39) |
|
probably benign |
Het |
H2-Eb2 |
T |
A |
17: 34,544,771 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
T |
C |
2: 31,233,108 (GRCm39) |
V219A |
probably damaging |
Het |
Hsf2 |
C |
T |
10: 57,388,196 (GRCm39) |
P447S |
probably damaging |
Het |
Il12rb2 |
T |
C |
6: 67,337,561 (GRCm39) |
T107A |
probably damaging |
Het |
Lnx1 |
T |
A |
5: 74,846,378 (GRCm39) |
N24I |
probably benign |
Het |
Mgat3 |
C |
A |
15: 80,096,634 (GRCm39) |
A487D |
probably damaging |
Het |
Or10h5 |
C |
T |
17: 33,434,947 (GRCm39) |
V124M |
probably benign |
Het |
Or52ae9 |
T |
A |
7: 103,390,172 (GRCm39) |
I92F |
probably benign |
Het |
Or6b2 |
T |
C |
1: 92,407,746 (GRCm39) |
D199G |
probably damaging |
Het |
Or6c65 |
T |
A |
10: 129,603,455 (GRCm39) |
L30Q |
probably null |
Het |
Ppargc1b |
A |
G |
18: 61,456,235 (GRCm39) |
Y75H |
probably damaging |
Het |
Rgl2 |
G |
T |
17: 34,154,910 (GRCm39) |
C638F |
probably benign |
Het |
Rhpn1 |
C |
A |
15: 75,583,735 (GRCm39) |
R407S |
probably damaging |
Het |
Sipa1l2 |
A |
G |
8: 126,174,613 (GRCm39) |
S1222P |
probably benign |
Het |
Tango6 |
T |
A |
8: 107,468,642 (GRCm39) |
|
probably benign |
Het |
Tonsl |
G |
A |
15: 76,516,080 (GRCm39) |
|
probably benign |
Het |
Vmn1r77 |
G |
A |
7: 11,775,223 (GRCm39) |
|
probably null |
Het |
Vmn2r13 |
A |
C |
5: 109,303,964 (GRCm39) |
F822L |
probably damaging |
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 |
IGL01529:Hsph1
|
APN |
5 |
149,559,499 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2013-04-17 |