Incidental Mutation 'IGL02754:Hsph1'
ID |
306364 |
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 # |
IGL02754
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
149537752-149559841 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 149547057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 531
(N531I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144413
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074846]
[ENSMUST00000201452]
[ENSMUST00000202089]
[ENSMUST00000202361]
|
AlphaFold |
Q61699 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074846
|
SMART Domains |
Protein: ENSMUSP00000074392 Gene: ENSMUSG00000029657
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: ENSMUST00000201431
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201452
AA Change: N531I
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144654 Gene: ENSMUSG00000029657 AA Change: N531I
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: ENSMUST00000201877
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202089
AA Change: N490I
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144297 Gene: ENSMUSG00000029657 AA Change: N490I
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 |
noncoding transcript
Transcript: ENSMUST00000202137
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202361
AA Change: N531I
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144413 Gene: ENSMUSG00000029657 AA Change: N531I
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
709 |
7.3e-190 |
PFAM |
low complexity region
|
756 |
768 |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AW551984 |
T |
A |
9: 39,507,922 (GRCm39) |
R405* |
probably null |
Het |
AW551984 |
C |
T |
9: 39,504,624 (GRCm39) |
|
probably null |
Het |
Bdp1 |
T |
C |
13: 100,197,481 (GRCm39) |
E968G |
possibly damaging |
Het |
Ccdc68 |
T |
C |
18: 70,076,935 (GRCm39) |
|
probably null |
Het |
Ccdc87 |
T |
A |
19: 4,889,889 (GRCm39) |
L127H |
probably damaging |
Het |
Cdk5r1 |
G |
T |
11: 80,368,569 (GRCm39) |
A79S |
probably benign |
Het |
Cdyl |
A |
T |
13: 35,867,725 (GRCm39) |
|
probably benign |
Het |
Cfdp1 |
A |
G |
8: 112,580,766 (GRCm39) |
|
probably benign |
Het |
Chi3l1 |
A |
T |
1: 134,111,339 (GRCm39) |
I62F |
probably damaging |
Het |
Cnot1 |
A |
T |
8: 96,481,706 (GRCm39) |
I789K |
probably benign |
Het |
Cobl |
T |
C |
11: 12,204,371 (GRCm39) |
K695R |
probably damaging |
Het |
Cobl |
C |
A |
11: 12,204,370 (GRCm39) |
K752N |
probably damaging |
Het |
Cstdc5 |
G |
A |
16: 36,179,899 (GRCm39) |
P73S |
probably benign |
Het |
Dcaf6 |
T |
C |
1: 165,165,915 (GRCm39) |
|
probably null |
Het |
Ece2 |
A |
T |
16: 20,451,398 (GRCm39) |
I197F |
probably damaging |
Het |
Eif2b5 |
T |
G |
16: 20,321,536 (GRCm39) |
V363G |
possibly damaging |
Het |
Gca |
T |
C |
2: 62,502,702 (GRCm39) |
S37P |
probably benign |
Het |
Ghsr |
A |
C |
3: 27,426,645 (GRCm39) |
I234L |
probably damaging |
Het |
Grin3b |
A |
T |
10: 79,808,723 (GRCm39) |
I158F |
possibly damaging |
Het |
Gtf2h2 |
A |
T |
13: 100,617,747 (GRCm39) |
D178E |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,747,246 (GRCm39) |
E461G |
probably damaging |
Het |
Insl6 |
G |
T |
19: 29,302,529 (GRCm39) |
Q63K |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,592,806 (GRCm39) |
N3771S |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,691,952 (GRCm39) |
|
probably null |
Het |
Lvrn |
C |
T |
18: 47,023,971 (GRCm39) |
Q773* |
probably null |
Het |
Mterf1b |
T |
C |
5: 4,246,478 (GRCm39) |
F40L |
possibly damaging |
Het |
Nrg1 |
G |
A |
8: 32,316,391 (GRCm39) |
|
probably benign |
Het |
Or10ak13 |
T |
A |
4: 118,639,117 (GRCm39) |
I222F |
possibly damaging |
Het |
Or1n1 |
T |
A |
2: 36,750,232 (GRCm39) |
I43F |
probably damaging |
Het |
Or5p79 |
T |
C |
7: 108,221,880 (GRCm39) |
I287T |
possibly damaging |
Het |
Pax5 |
C |
T |
4: 44,570,059 (GRCm39) |
V319I |
probably damaging |
Het |
Plcz1 |
T |
A |
6: 139,956,307 (GRCm39) |
T321S |
probably benign |
Het |
Plekha6 |
A |
G |
1: 133,212,676 (GRCm39) |
E660G |
probably damaging |
Het |
Prep |
T |
C |
10: 44,943,428 (GRCm39) |
M1T |
probably null |
Het |
Prickle1 |
C |
T |
15: 93,399,034 (GRCm39) |
S598N |
possibly damaging |
Het |
Prtn3 |
A |
G |
10: 79,716,932 (GRCm39) |
Q99R |
probably benign |
Het |
Rad50 |
A |
G |
11: 53,592,883 (GRCm39) |
V89A |
probably damaging |
Het |
Ret |
T |
C |
6: 118,153,213 (GRCm39) |
Y485C |
probably benign |
Het |
Setd2 |
T |
A |
9: 110,379,124 (GRCm39) |
F980I |
possibly damaging |
Het |
Slc44a4 |
A |
G |
17: 35,140,279 (GRCm39) |
Y228C |
probably damaging |
Het |
Tex10 |
C |
T |
4: 48,435,028 (GRCm39) |
C779Y |
possibly damaging |
Het |
Tfdp2 |
T |
G |
9: 96,199,592 (GRCm39) |
S285A |
probably benign |
Het |
Thsd4 |
T |
A |
9: 59,896,380 (GRCm39) |
|
probably benign |
Het |
Tmem106a |
A |
C |
11: 101,481,219 (GRCm39) |
E242D |
probably benign |
Het |
Ttc22 |
T |
C |
4: 106,495,669 (GRCm39) |
V341A |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,138,095 (GRCm39) |
S1151T |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,120,470 (GRCm39) |
|
probably null |
Het |
Vmn1r206 |
A |
T |
13: 22,805,060 (GRCm39) |
L49* |
probably null |
Het |
Vmn1r233 |
A |
T |
17: 21,214,887 (GRCm39) |
F21Y |
probably benign |
Het |
Vmn1r233 |
A |
T |
17: 21,214,886 (GRCm39) |
F21L |
probably benign |
Het |
Vmn2r15 |
A |
T |
5: 109,441,134 (GRCm39) |
C241* |
probably null |
Het |
Zmym6 |
T |
A |
4: 127,003,764 (GRCm39) |
|
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 |
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 |
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 |
2015-04-16 |