Incidental Mutation 'IGL02272:Hsph1'
| ID |
287216 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hsph1
|
| Ensembl Gene |
ENSMUSG00000029657 |
| Gene Name |
heat shock 105kDa/110kDa protein 1 |
| Synonyms |
Hsp105, hsp-E7I, HSP110 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.600)
|
| Stock # |
IGL02272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
149614287-149636376 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 149617530 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 852
(S852P)
|
| 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
AA Change: S808P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: S808P
| 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 |
probably benign
Transcript: ENSMUST00000201452
AA Change: S852P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: S852P
| 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 |
probably benign
Transcript: ENSMUST00000202089
AA Change: S811P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: S811P
| 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 |
probably benign
Transcript: ENSMUST00000202361
AA Change: S852P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: S852P
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,450,021 (GRCm38) |
C759* |
probably null |
Het |
| Adgrg6 |
T |
A |
10: 14,468,829 (GRCm38) |
M127L |
probably damaging |
Het |
| AI314180 |
A |
T |
4: 58,811,731 (GRCm38) |
N1439K |
probably benign |
Het |
| Anxa9 |
A |
G |
3: 95,305,894 (GRCm38) |
V47A |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 43,001,452 (GRCm38) |
D483V |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 80,891,650 (GRCm38) |
|
probably benign |
Het |
| Ccdc169 |
A |
G |
3: 55,150,748 (GRCm38) |
E67G |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,960,022 (GRCm38) |
V731D |
possibly damaging |
Het |
| Cdh3 |
G |
T |
8: 106,547,836 (GRCm38) |
|
probably null |
Het |
| Cntnap1 |
G |
A |
11: 101,178,316 (GRCm38) |
V199M |
probably damaging |
Het |
| Cntnap3 |
A |
T |
13: 64,757,411 (GRCm38) |
V852E |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,199,893 (GRCm38) |
S1024T |
probably damaging |
Het |
| Cyp3a25 |
T |
C |
5: 145,993,265 (GRCm38) |
|
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,266,019 (GRCm38) |
V289D |
probably damaging |
Het |
| Epha6 |
C |
T |
16: 59,818,937 (GRCm38) |
R858Q |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,779,704 (GRCm38) |
F272Y |
probably damaging |
Het |
| Gbf1 |
T |
A |
19: 46,269,803 (GRCm38) |
W846R |
probably damaging |
Het |
| Gtpbp2 |
T |
A |
17: 46,164,781 (GRCm38) |
V152E |
probably benign |
Het |
| Hmces |
A |
G |
6: 87,917,855 (GRCm38) |
|
probably null |
Het |
| Kat6b |
A |
C |
14: 21,626,778 (GRCm38) |
K394Q |
probably damaging |
Het |
| Kdr |
G |
A |
5: 75,961,840 (GRCm38) |
T475I |
probably benign |
Het |
| Klhl25 |
A |
G |
7: 75,866,620 (GRCm38) |
T425A |
probably benign |
Het |
| Klk1b8 |
T |
A |
7: 43,952,793 (GRCm38) |
C50S |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,276,168 (GRCm38) |
Y343C |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,305,769 (GRCm38) |
S953P |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,547,600 (GRCm38) |
V681A |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,901,661 (GRCm38) |
T508A |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,282,700 (GRCm38) |
Y417* |
probably null |
Het |
| Mthfd1l |
T |
G |
10: 4,041,812 (GRCm38) |
I588S |
probably damaging |
Het |
| Myo5c |
C |
A |
9: 75,266,160 (GRCm38) |
N543K |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,884,600 (GRCm38) |
|
probably benign |
Het |
| Nme8 |
T |
C |
13: 19,658,826 (GRCm38) |
Y393C |
probably damaging |
Het |
| Nr2e1 |
T |
G |
10: 42,567,979 (GRCm38) |
N249T |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,465,898 (GRCm38) |
V45A |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,209,260 (GRCm38) |
G2945W |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,993,628 (GRCm38) |
F393S |
probably damaging |
Het |
| Ppp3cc |
A |
G |
14: 70,236,489 (GRCm38) |
V353A |
probably damaging |
Het |
| Prss16 |
T |
A |
13: 22,003,035 (GRCm38) |
Q455L |
probably damaging |
Het |
| Ptpn6 |
A |
T |
6: 124,721,208 (GRCm38) |
V524E |
probably damaging |
Het |
| Rap1gap |
A |
G |
4: 137,716,566 (GRCm38) |
Y163C |
probably damaging |
Het |
| Rnf31 |
C |
T |
14: 55,598,782 (GRCm38) |
L598F |
probably damaging |
Het |
| Sardh |
T |
G |
2: 27,224,991 (GRCm38) |
D550A |
probably benign |
Het |
| Serpinc1 |
T |
G |
1: 160,999,992 (GRCm38) |
I387S |
probably damaging |
Het |
| Sh3d19 |
A |
T |
3: 86,121,167 (GRCm38) |
D650V |
probably benign |
Het |
| Sipa1l2 |
T |
A |
8: 125,492,011 (GRCm38) |
T196S |
probably damaging |
Het |
| Slc25a46 |
T |
C |
18: 31,583,568 (GRCm38) |
T294A |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 23,815,782 (GRCm38) |
|
probably benign |
Het |
| Steap2 |
T |
A |
5: 5,677,612 (GRCm38) |
N241I |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,596,660 (GRCm38) |
Y206C |
probably damaging |
Het |
| Tmem259 |
T |
A |
10: 79,978,463 (GRCm38) |
Q322L |
probably damaging |
Het |
| Tnni2 |
C |
A |
7: 142,443,429 (GRCm38) |
Q52K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,735,028 (GRCm38) |
V28285A |
possibly damaging |
Het |
| Uba7 |
T |
A |
9: 107,976,153 (GRCm38) |
S99R |
probably benign |
Het |
| Ubxn2b |
A |
T |
4: 6,216,071 (GRCm38) |
K331N |
probably damaging |
Het |
| Usp50 |
G |
A |
2: 126,769,944 (GRCm38) |
T232I |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,385,999 (GRCm38) |
M95I |
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,386,004 (GRCm38) |
L97Q |
probably damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,786,884 (GRCm38) |
N240I |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,750,693 (GRCm38) |
R383G |
probably benign |
Het |
|
| Other mutations in Hsph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Hsph1
|
APN |
5 |
149,618,789 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL00839:Hsph1
|
APN |
5 |
149,618,454 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL00965:Hsph1
|
APN |
5 |
149,630,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01529:Hsph1
|
APN |
5 |
149,636,034 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01613:Hsph1
|
APN |
5 |
149,627,278 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL02023:Hsph1
|
APN |
5 |
149,633,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02754:Hsph1
|
APN |
5 |
149,623,592 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0666:Hsph1
|
UTSW |
5 |
149,631,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1061:Hsph1
|
UTSW |
5 |
149,618,418 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1163:Hsph1
|
UTSW |
5 |
149,630,801 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1511:Hsph1
|
UTSW |
5 |
149,630,383 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1794:Hsph1
|
UTSW |
5 |
149,630,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1806:Hsph1
|
UTSW |
5 |
149,629,989 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1847:Hsph1
|
UTSW |
5 |
149,623,485 (GRCm38) |
nonsense |
probably null |
|
|
R2143:Hsph1
|
UTSW |
5 |
149,631,486 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2144:Hsph1
|
UTSW |
5 |
149,630,337 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2917:Hsph1
|
UTSW |
5 |
149,630,786 (GRCm38) |
nonsense |
probably null |
|
|
R3840:Hsph1
|
UTSW |
5 |
149,620,715 (GRCm38) |
splice site |
probably null |
|
|
R3841:Hsph1
|
UTSW |
5 |
149,620,715 (GRCm38) |
splice site |
probably null |
|
|
R4378:Hsph1
|
UTSW |
5 |
149,636,007 (GRCm38) |
nonsense |
probably null |
|
|
R4577:Hsph1
|
UTSW |
5 |
149,618,843 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4618:Hsph1
|
UTSW |
5 |
149,618,843 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4621:Hsph1
|
UTSW |
5 |
149,618,843 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5898:Hsph1
|
UTSW |
5 |
149,625,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6114:Hsph1
|
UTSW |
5 |
149,627,387 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6185:Hsph1
|
UTSW |
5 |
149,617,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6432:Hsph1
|
UTSW |
5 |
149,618,976 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6678:Hsph1
|
UTSW |
5 |
149,618,497 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7014:Hsph1
|
UTSW |
5 |
149,630,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7189:Hsph1
|
UTSW |
5 |
149,630,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7438:Hsph1
|
UTSW |
5 |
149,619,020 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7502:Hsph1
|
UTSW |
5 |
149,630,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7621:Hsph1
|
UTSW |
5 |
149,632,075 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7625:Hsph1
|
UTSW |
5 |
149,618,436 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8480:Hsph1
|
UTSW |
5 |
149,627,564 (GRCm38) |
missense |
probably null |
1.00 |
|
R8841:Hsph1
|
UTSW |
5 |
149,627,324 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8858:Hsph1
|
UTSW |
5 |
149,625,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9031:Hsph1
|
UTSW |
5 |
149,629,805 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9371:Hsph1
|
UTSW |
5 |
149,619,930 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation