Incidental Mutation 'R8480:Hsph1'
| ID |
657474 |
| 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 |
067924-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.511)
|
| Stock # |
R8480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149537752-149559841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 149551029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 406
(W406R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074846]
[ENSMUST00000200805]
[ENSMUST00000200825]
[ENSMUST00000201452]
[ENSMUST00000201559]
[ENSMUST00000202089]
[ENSMUST00000202361]
|
| AlphaFold |
Q61699 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074846
AA Change: W406R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: W406R
| 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 benign
Transcript: ENSMUST00000200825
|
| SMART Domains |
Protein: ENSMUSP00000143913
Gene: ENSMUSG00000029657
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
100 |
1.4e-34 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201452
AA Change: W406R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: W406R
| 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 |
probably null
Transcript: ENSMUST00000202089
AA Change: W365R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: W365R
| 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 |
probably null
Transcript: ENSMUST00000202361
AA Change: W406R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: W406R
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (53/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
G |
A |
15: 101,108,720 (GRCm39) |
V499M |
possibly damaging |
Het |
| Adam5 |
G |
A |
8: 25,294,475 (GRCm39) |
Q375* |
probably null |
Het |
| Adgrf1 |
G |
A |
17: 43,606,055 (GRCm39) |
E60K |
probably benign |
Het |
| Alb |
T |
C |
5: 90,610,630 (GRCm39) |
V70A |
probably damaging |
Het |
| Aph1b |
T |
A |
9: 66,695,709 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
G |
A |
9: 105,274,189 (GRCm39) |
R143Q |
possibly damaging |
Het |
| Aste1 |
A |
T |
9: 105,274,995 (GRCm39) |
T351S |
probably damaging |
Het |
| Bace2 |
T |
A |
16: 97,214,670 (GRCm39) |
L286Q |
probably damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,163 (GRCm39) |
G235R |
probably damaging |
Het |
| Bpnt2 |
C |
T |
4: 4,769,376 (GRCm39) |
M246I |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,848,630 (GRCm39) |
H516Q |
probably damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,842,486 (GRCm39) |
|
probably null |
Het |
| Cdh22 |
T |
A |
2: 164,988,646 (GRCm39) |
E236D |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Celsr2 |
T |
A |
3: 108,306,218 (GRCm39) |
T2029S |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,975,043 (GRCm39) |
D1234G |
probably benign |
Het |
| Cplane1 |
C |
A |
15: 8,216,942 (GRCm39) |
P720Q |
possibly damaging |
Het |
| Cpt2 |
A |
G |
4: 107,764,957 (GRCm39) |
I269T |
probably damaging |
Het |
| Dcaf7 |
T |
A |
11: 105,945,619 (GRCm39) |
S323T |
probably benign |
Het |
| Ddias |
G |
T |
7: 92,508,608 (GRCm39) |
Q436K |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,972,335 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
A |
14: 68,073,859 (GRCm39) |
I294F |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,173,794 (GRCm39) |
D2306E |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,280 (GRCm39) |
D626V |
probably damaging |
Het |
| Gm6563 |
A |
G |
19: 23,653,290 (GRCm39) |
T27A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,373,568 (GRCm39) |
|
probably null |
Het |
| Ighv1-66 |
C |
T |
12: 115,557,002 (GRCm39) |
G27R |
possibly damaging |
Het |
| Krt26 |
T |
C |
11: 99,228,426 (GRCm39) |
E102G |
probably damaging |
Het |
| Krt34 |
T |
A |
11: 99,930,971 (GRCm39) |
|
probably null |
Het |
| Krt36 |
T |
C |
11: 99,993,635 (GRCm39) |
D401G |
possibly damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,518,827 (GRCm39) |
G326S |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,633,802 (GRCm39) |
N758S |
probably damaging |
Het |
| Mrtfb |
A |
T |
16: 13,202,056 (GRCm39) |
|
probably null |
Het |
| Muc4 |
C |
T |
16: 32,574,421 (GRCm39) |
T957I |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,358,743 (GRCm39) |
Y831C |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,678,859 (GRCm39) |
V829E |
probably benign |
Het |
| Nmnat1 |
G |
A |
4: 149,557,827 (GRCm39) |
L72F |
possibly damaging |
Het |
| Or4f14d |
A |
T |
2: 111,960,330 (GRCm39) |
D275E |
possibly damaging |
Het |
| Pcdh7 |
T |
A |
5: 58,286,407 (GRCm39) |
V1161E |
probably damaging |
Het |
| Raver1 |
A |
G |
9: 21,001,576 (GRCm39) |
Y86H |
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,588,705 (GRCm39) |
H1035Q |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,411,284 (GRCm39) |
M814K |
probably benign |
Het |
| Sh3d19 |
T |
G |
3: 85,992,184 (GRCm39) |
W71G |
probably benign |
Het |
| Sidt1 |
T |
C |
16: 44,065,529 (GRCm39) |
Y759C |
probably damaging |
Het |
| Spg11 |
G |
T |
2: 121,943,560 (GRCm39) |
D197E |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Ssc5d |
A |
T |
7: 4,939,328 (GRCm39) |
D588V |
probably damaging |
Het |
| Supt20 |
C |
A |
3: 54,614,537 (GRCm39) |
T181K |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,244,015 (GRCm39) |
S1363R |
probably benign |
Het |
| Tbcel |
G |
A |
9: 42,375,169 (GRCm39) |
|
probably null |
Het |
| Ube2e3 |
T |
C |
2: 78,749,158 (GRCm39) |
L169P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,778,796 (GRCm39) |
F595S |
probably benign |
Het |
| Zfp473 |
G |
T |
7: 44,382,323 (GRCm39) |
P670Q |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,986,299 (GRCm39) |
A660V |
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 |
|
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 |
|
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'- TTCCGACTGAACACCTCGTG -3'
(R):5'- CAAAGCGTAGAAACATGCTGC -3'
Sequencing Primer
(F):5'- CCTCGTGCACACTAAGAGG -3'
(R):5'- GCTGCAAGCAGTTAAGTTTTACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation