Incidental Mutation 'IGL02023:Hsph1'
| ID |
184032 |
| 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: 0.511)
|
| Stock # |
IGL02023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
149537752-149559841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149557324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 46
(R46G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074846]
[ENSMUST00000200805]
[ENSMUST00000200825]
[ENSMUST00000201452]
[ENSMUST00000201559]
[ENSMUST00000202361]
[ENSMUST00000202089]
|
| AlphaFold |
Q61699 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074846
AA Change: R46G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: R46G
| 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 damaging
Transcript: ENSMUST00000200825
AA Change: R46G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143913
Gene: ENSMUSG00000029657
AA Change: R46G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
100 |
1.4e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201431
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201452
AA Change: R46G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: R46G
| 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 |
noncoding transcript
Transcript: ENSMUST00000201666
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202361
AA Change: R46G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: R46G
| 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: R46G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: R46G
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,953,942 (GRCm39) |
K833E |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,325,519 (GRCm39) |
I312V |
probably benign |
Het |
| Adcy8 |
T |
A |
15: 64,694,069 (GRCm39) |
I403F |
probably damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,575,010 (GRCm39) |
N444K |
probably damaging |
Het |
| Ang4 |
T |
C |
14: 52,001,511 (GRCm39) |
|
probably benign |
Het |
| Atf6b |
T |
C |
17: 34,870,841 (GRCm39) |
V401A |
possibly damaging |
Het |
| Atp7a |
A |
T |
X: 105,138,588 (GRCm39) |
I604F |
probably damaging |
Het |
| Cd151 |
T |
C |
7: 141,050,370 (GRCm39) |
Y202H |
probably damaging |
Het |
| Cd99l2 |
A |
T |
X: 70,493,552 (GRCm39) |
N64K |
possibly damaging |
Het |
| Cog7 |
C |
T |
7: 121,543,000 (GRCm39) |
|
probably null |
Het |
| Decr2 |
A |
T |
17: 26,306,354 (GRCm39) |
M94K |
probably benign |
Het |
| Dock11 |
A |
T |
X: 35,232,422 (GRCm39) |
H188L |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,602,397 (GRCm39) |
S682G |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,612,258 (GRCm39) |
|
probably benign |
Het |
| Gja3 |
G |
T |
14: 57,273,136 (GRCm39) |
P412Q |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,758,262 (GRCm39) |
N333D |
probably benign |
Het |
| Gpr65 |
T |
A |
12: 98,242,127 (GRCm39) |
V260D |
probably benign |
Het |
| Hormad1 |
A |
G |
3: 95,485,604 (GRCm39) |
E264G |
possibly damaging |
Het |
| Hycc2 |
G |
A |
1: 58,569,274 (GRCm39) |
A435V |
possibly damaging |
Het |
| Iars1 |
A |
G |
13: 49,841,725 (GRCm39) |
Y71C |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,404,494 (GRCm39) |
H35R |
probably damaging |
Het |
| Mfge8 |
C |
T |
7: 78,794,985 (GRCm39) |
|
probably benign |
Het |
| Mgat4c |
T |
A |
10: 102,214,045 (GRCm39) |
Y9* |
probably null |
Het |
| Mpdz |
A |
T |
4: 81,247,766 (GRCm39) |
I1074N |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,772,453 (GRCm39) |
|
noncoding transcript |
Het |
| Nbea |
A |
T |
3: 55,588,437 (GRCm39) |
M2434K |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,245,078 (GRCm39) |
L540P |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,121,858 (GRCm39) |
R554G |
probably damaging |
Het |
| Npdc1 |
T |
A |
2: 25,298,032 (GRCm39) |
|
probably benign |
Het |
| Or2aj6 |
A |
T |
16: 19,443,158 (GRCm39) |
S231T |
probably benign |
Het |
| Osbpl10 |
T |
A |
9: 115,055,790 (GRCm39) |
V654D |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,314 (GRCm39) |
G105V |
possibly damaging |
Het |
| Pnma8b |
T |
C |
7: 16,679,616 (GRCm39) |
V200A |
probably damaging |
Het |
| Ppard |
A |
G |
17: 28,517,871 (GRCm39) |
H313R |
probably benign |
Het |
| Rasgrp4 |
T |
C |
7: 28,838,335 (GRCm39) |
L103P |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,216,487 (GRCm39) |
Y504H |
possibly damaging |
Het |
| Ripk4 |
A |
T |
16: 97,556,431 (GRCm39) |
L104Q |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,423,704 (GRCm39) |
V2253A |
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,668,607 (GRCm39) |
S43P |
probably damaging |
Het |
| Stab2 |
C |
A |
10: 86,707,695 (GRCm39) |
G1742V |
possibly damaging |
Het |
| Timm23 |
A |
G |
14: 31,915,804 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,615,999 (GRCm39) |
N14902S |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,465,711 (GRCm39) |
T2760A |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,816,388 (GRCm39) |
N398D |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation