Incidental Mutation 'R1061:Hsph1'
ID |
94463 |
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 |
039147-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.618)
|
Stock # |
R1061 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
149537752-149559841 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 149541883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 781
(V781D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144413
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074846]
[ENSMUST00000201452]
[ENSMUST00000202089]
[ENSMUST00000202361]
|
AlphaFold |
Q61699 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074846
AA Change: V737D
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000074392 Gene: ENSMUSG00000029657 AA Change: V737D
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: V781D
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144654 Gene: ENSMUSG00000029657 AA Change: V781D
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: V740D
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144297 Gene: ENSMUSG00000029657 AA Change: V740D
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: V781D
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144413 Gene: ENSMUSG00000029657 AA Change: V781D
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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,108,153 (GRCm39) |
A715T |
probably benign |
Het |
Ampd2 |
A |
G |
3: 107,983,005 (GRCm39) |
Y641H |
probably damaging |
Het |
Aqp4 |
A |
T |
18: 15,531,248 (GRCm39) |
V171E |
probably damaging |
Het |
Arid4a |
T |
A |
12: 71,121,729 (GRCm39) |
S381R |
probably damaging |
Het |
Armc8 |
T |
G |
9: 99,419,784 (GRCm39) |
N51H |
probably damaging |
Het |
Asic5 |
T |
A |
3: 81,928,308 (GRCm39) |
Y424N |
probably damaging |
Het |
Bcl11a |
A |
T |
11: 24,114,069 (GRCm39) |
K471* |
probably null |
Het |
Birc6 |
A |
G |
17: 74,996,307 (GRCm39) |
T4494A |
probably damaging |
Het |
Btbd9 |
A |
G |
17: 30,746,409 (GRCm39) |
I139T |
probably benign |
Het |
Ccdc60 |
C |
A |
5: 116,310,527 (GRCm39) |
R178S |
possibly damaging |
Het |
Cd163 |
C |
T |
6: 124,286,128 (GRCm39) |
A226V |
probably benign |
Het |
Cibar2 |
C |
A |
8: 120,896,443 (GRCm39) |
|
probably null |
Het |
Cog1 |
T |
G |
11: 113,542,863 (GRCm39) |
S170A |
probably benign |
Het |
Cwc15 |
T |
C |
9: 14,419,211 (GRCm39) |
L169P |
probably damaging |
Het |
Cyp3a25 |
A |
T |
5: 145,923,643 (GRCm39) |
D333E |
probably benign |
Het |
Ddc |
C |
T |
11: 11,779,132 (GRCm39) |
V331I |
probably benign |
Het |
Dlc1 |
T |
A |
8: 37,325,205 (GRCm39) |
T367S |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,943,514 (GRCm39) |
D3183G |
possibly damaging |
Het |
Eif2a |
T |
A |
3: 58,452,486 (GRCm39) |
Y165* |
probably null |
Het |
Eml6 |
T |
C |
11: 29,727,267 (GRCm39) |
D1285G |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,713,008 (GRCm39) |
|
probably null |
Het |
Fbn1 |
T |
C |
2: 125,187,883 (GRCm39) |
T1549A |
probably benign |
Het |
Fezf2 |
T |
C |
14: 12,342,713 (GRCm38) |
Y384C |
probably damaging |
Het |
Flvcr1 |
A |
T |
1: 190,740,370 (GRCm39) |
V550E |
probably benign |
Het |
Gcm2 |
A |
G |
13: 41,259,347 (GRCm39) |
W41R |
probably damaging |
Het |
Gli2 |
A |
T |
1: 118,782,247 (GRCm39) |
M160K |
possibly damaging |
Het |
Gpr61 |
C |
T |
3: 108,057,623 (GRCm39) |
R346H |
probably damaging |
Het |
Hoxa5 |
A |
T |
6: 52,181,135 (GRCm39) |
S66T |
probably benign |
Het |
Kdm3b |
G |
A |
18: 34,929,915 (GRCm39) |
V220M |
probably damaging |
Het |
Klhl25 |
T |
A |
7: 75,516,268 (GRCm39) |
Y391* |
probably null |
Het |
Mc2r |
A |
T |
18: 68,540,880 (GRCm39) |
Y138N |
probably damaging |
Het |
Mtap |
C |
A |
4: 89,074,821 (GRCm39) |
D106E |
probably benign |
Het |
Nup43 |
G |
T |
10: 7,543,435 (GRCm39) |
W37L |
probably damaging |
Het |
Nxpe2 |
T |
A |
9: 48,237,663 (GRCm39) |
E197D |
probably damaging |
Het |
Odad1 |
T |
C |
7: 45,591,179 (GRCm39) |
I218T |
probably damaging |
Het |
Or10d1c |
C |
A |
9: 38,893,779 (GRCm39) |
C187F |
probably damaging |
Het |
Or55b4 |
T |
A |
7: 102,133,321 (GRCm39) |
*335C |
probably null |
Het |
Or5p60 |
T |
C |
7: 107,723,663 (GRCm39) |
Y269C |
probably damaging |
Het |
Or8h8 |
A |
T |
2: 86,753,126 (GRCm39) |
V250D |
possibly damaging |
Het |
Pitrm1 |
A |
G |
13: 6,605,611 (GRCm39) |
H186R |
probably damaging |
Het |
Pklr |
C |
T |
3: 89,052,188 (GRCm39) |
R467C |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,326,401 (GRCm39) |
N112D |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Ppp3cb |
A |
C |
14: 20,558,682 (GRCm39) |
|
probably null |
Het |
R3hcc1l |
C |
T |
19: 42,571,865 (GRCm39) |
R135* |
probably null |
Het |
Ralyl |
A |
C |
3: 14,180,761 (GRCm39) |
D68A |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
S100a1 |
T |
C |
3: 90,418,619 (GRCm39) |
N65S |
probably damaging |
Het |
Scn11a |
A |
T |
9: 119,624,729 (GRCm39) |
M531K |
probably damaging |
Het |
Slc5a5 |
T |
A |
8: 71,342,865 (GRCm39) |
M232L |
probably benign |
Het |
Tet3 |
A |
T |
6: 83,350,305 (GRCm39) |
N1054K |
probably damaging |
Het |
Tg |
A |
G |
15: 66,570,408 (GRCm39) |
N1427D |
probably benign |
Het |
Tns1 |
A |
C |
1: 73,956,831 (GRCm39) |
V530G |
probably damaging |
Het |
Trcg1 |
C |
A |
9: 57,153,156 (GRCm39) |
Q600K |
possibly damaging |
Het |
Tshz3 |
A |
G |
7: 36,468,131 (GRCm39) |
E40G |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,334,420 (GRCm39) |
F1138S |
possibly damaging |
Het |
Vmn2r26 |
C |
T |
6: 124,038,603 (GRCm39) |
T726I |
probably benign |
Het |
Vmn2r97 |
A |
T |
17: 19,148,440 (GRCm39) |
R112* |
probably null |
Het |
Vwa2 |
G |
T |
19: 56,897,426 (GRCm39) |
R577L |
probably benign |
Het |
Vwa3b |
A |
C |
1: 37,196,511 (GRCm39) |
Q46P |
probably damaging |
Het |
Wdr25 |
T |
A |
12: 108,958,725 (GRCm39) |
|
probably null |
Het |
Wrap53 |
A |
G |
11: 69,453,226 (GRCm39) |
L405P |
probably damaging |
Het |
Zfp629 |
C |
A |
7: 127,211,161 (GRCm39) |
W216L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGTTCAAGGACACACTGCCAAC -3'
(R):5'- AGGGAGTGACCTGACTTAGCCAAC -3'
Sequencing Primer
(F):5'- CCAGGACAGACGTAGCTAGAAC -3'
(R):5'- CCTGACTTAGCCAACATGTGG -3'
|
Posted On |
2014-01-05 |