Incidental Mutation 'R1847:Hsph1'
ID |
207793 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsph1
|
Ensembl Gene |
ENSMUSG00000029657 |
Gene Name |
heat shock 105kDa/110kDa protein 1 |
Synonyms |
HSP110, hsp110/105, hsp-E7I, Hsp105 |
MMRRC Submission |
039872-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.618)
|
Stock # |
R1847 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
149537752-149559841 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 149546950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 567
(K567*)
|
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 |
probably null
Transcript: ENSMUST00000201452
AA Change: K567*
|
SMART Domains |
Protein: ENSMUSP00000144654 Gene: ENSMUSG00000029657 AA Change: K567*
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 null
Transcript: ENSMUST00000202089
AA Change: K526*
|
SMART Domains |
Protein: ENSMUSP00000144297 Gene: ENSMUSG00000029657 AA Change: K526*
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 null
Transcript: ENSMUST00000202361
AA Change: K567*
|
SMART Domains |
Protein: ENSMUSP00000144413 Gene: ENSMUSG00000029657 AA Change: K567*
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
709 |
7.3e-190 |
PFAM |
low complexity region
|
756 |
768 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.2%
|
Validation Efficiency |
97% (68/70) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
C |
A |
16: 14,263,313 (GRCm39) |
R758S |
probably benign |
Het |
Acnat1 |
A |
T |
4: 49,447,716 (GRCm39) |
H288Q |
possibly damaging |
Het |
Adamts1 |
T |
C |
16: 85,599,114 (GRCm39) |
E162G |
possibly damaging |
Het |
Akap11 |
A |
G |
14: 78,751,101 (GRCm39) |
S429P |
probably benign |
Het |
Alg14 |
T |
C |
3: 121,155,415 (GRCm39) |
Y212H |
probably damaging |
Het |
Cacna1g |
T |
C |
11: 94,357,007 (GRCm39) |
T97A |
probably damaging |
Het |
Ccdc112 |
T |
A |
18: 46,420,821 (GRCm39) |
N310Y |
possibly damaging |
Het |
Cenpl |
A |
T |
1: 160,913,574 (GRCm39) |
Y328F |
probably damaging |
Het |
Cep162 |
G |
A |
9: 87,086,133 (GRCm39) |
H1064Y |
probably benign |
Het |
Cnksr3 |
T |
A |
10: 7,104,324 (GRCm39) |
E126D |
probably benign |
Het |
Ctsh |
T |
A |
9: 89,943,618 (GRCm39) |
M81K |
probably benign |
Het |
D6Wsu163e |
A |
G |
6: 126,932,112 (GRCm39) |
T284A |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dnaaf1 |
T |
A |
8: 120,309,616 (GRCm39) |
M196K |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,725,212 (GRCm39) |
G4314C |
probably damaging |
Het |
Dph1 |
A |
G |
11: 75,070,557 (GRCm39) |
Y361H |
probably damaging |
Het |
Ect2 |
C |
T |
3: 27,204,221 (GRCm39) |
M29I |
probably benign |
Het |
Eif3h |
T |
C |
15: 51,661,066 (GRCm39) |
Y167C |
probably damaging |
Het |
Epc2 |
C |
T |
2: 49,422,101 (GRCm39) |
R332C |
probably damaging |
Het |
Fras1 |
C |
A |
5: 96,897,282 (GRCm39) |
|
probably null |
Het |
Gfm2 |
A |
G |
13: 97,299,442 (GRCm39) |
I386V |
probably benign |
Het |
Gpd1l |
G |
A |
9: 114,743,399 (GRCm39) |
T167I |
probably damaging |
Het |
Igfn1 |
T |
G |
1: 135,897,126 (GRCm39) |
S1147R |
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,874,590 (GRCm39) |
V406A |
probably benign |
Het |
Kcna2 |
A |
G |
3: 107,012,429 (GRCm39) |
I337V |
possibly damaging |
Het |
Kcnab1 |
T |
C |
3: 65,209,615 (GRCm39) |
|
probably null |
Het |
Kri1 |
G |
T |
9: 21,191,788 (GRCm39) |
|
probably benign |
Het |
Lrguk |
T |
A |
6: 34,110,322 (GRCm39) |
I801K |
possibly damaging |
Het |
Magi2 |
A |
T |
5: 20,807,458 (GRCm39) |
N871Y |
probably damaging |
Het |
Map3k10 |
G |
T |
7: 27,360,981 (GRCm39) |
|
probably null |
Het |
Mrps25 |
T |
C |
6: 92,155,721 (GRCm39) |
T71A |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,390,321 (GRCm39) |
W945* |
probably null |
Het |
Ncan |
A |
T |
8: 70,555,104 (GRCm39) |
I1021N |
probably damaging |
Het |
Ncf4 |
C |
A |
15: 78,134,582 (GRCm39) |
S11R |
probably benign |
Het |
Neb |
A |
C |
2: 52,086,307 (GRCm39) |
S5255R |
possibly damaging |
Het |
Nop2 |
TGATGAAGATGAAGATGA |
TGATGAAGATGA |
6: 125,114,042 (GRCm39) |
|
probably benign |
Het |
Or4c102 |
G |
A |
2: 88,422,516 (GRCm39) |
A123T |
probably damaging |
Het |
Or5ak22 |
A |
T |
2: 85,230,785 (GRCm39) |
F31I |
probably damaging |
Het |
Or5d16 |
T |
C |
2: 87,773,065 (GRCm39) |
|
probably null |
Het |
Pacs1 |
T |
C |
19: 5,203,742 (GRCm39) |
I328V |
probably damaging |
Het |
Pafah2 |
GCCCC |
GCCCCC |
4: 134,152,852 (GRCm39) |
|
probably null |
Het |
Pan2 |
A |
G |
10: 128,140,247 (GRCm39) |
H56R |
possibly damaging |
Het |
Pigo |
G |
A |
4: 43,024,710 (GRCm39) |
R124* |
probably null |
Het |
Ppfia2 |
A |
G |
10: 106,763,571 (GRCm39) |
D1188G |
probably benign |
Het |
Ppp1r16b |
A |
G |
2: 158,603,355 (GRCm39) |
N327D |
probably damaging |
Het |
Psd3 |
A |
G |
8: 68,172,656 (GRCm39) |
C223R |
possibly damaging |
Het |
Rad50 |
A |
G |
11: 53,592,934 (GRCm39) |
V72A |
possibly damaging |
Het |
Rcor3 |
T |
A |
1: 191,785,133 (GRCm39) |
D445V |
possibly damaging |
Het |
Rundc1 |
T |
A |
11: 101,324,507 (GRCm39) |
H404Q |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,779,236 (GRCm39) |
K2083E |
probably benign |
Het |
Scd3 |
C |
A |
19: 44,224,281 (GRCm39) |
H171Q |
probably damaging |
Het |
Scrn2 |
T |
C |
11: 96,923,021 (GRCm39) |
F155L |
probably benign |
Het |
Serpina12 |
A |
T |
12: 103,998,769 (GRCm39) |
L323Q |
probably damaging |
Het |
Sptlc3 |
T |
A |
2: 139,467,843 (GRCm39) |
M467K |
probably benign |
Het |
Stard9 |
G |
T |
2: 120,528,970 (GRCm39) |
R1742S |
possibly damaging |
Het |
Thbd |
A |
T |
2: 148,249,604 (GRCm39) |
L88* |
probably null |
Het |
Tln2 |
G |
A |
9: 67,269,969 (GRCm39) |
Q477* |
probably null |
Het |
Tnn |
T |
A |
1: 159,943,752 (GRCm39) |
E1020D |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,726,990 (GRCm39) |
H3Q |
probably damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Vmp1 |
G |
A |
11: 86,534,413 (GRCm39) |
Q165* |
probably null |
Het |
Zfp758 |
T |
A |
17: 22,594,204 (GRCm39) |
M230K |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCCCTGCTTAAGTTTGAACACTC -3'
(R):5'- GAGAGTACTGTCTTTGGTGCCC -3'
Sequencing Primer
(F):5'- AGTTTGAACACTCCTTCTAGCAGG -3'
(R):5'- ACTGTCTTTGGTGCCCTATAATTTG -3'
|
Posted On |
2014-06-23 |