Incidental Mutation 'IGL01613:Hsph1'
| ID |
92268 |
| 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: 0.618)
|
| Stock # |
IGL01613
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
149537752-149559841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 149550743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 411
(V411A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074846]
[ENSMUST00000200805]
[ENSMUST00000200825]
[ENSMUST00000201452]
[ENSMUST00000201559]
[ENSMUST00000202089]
[ENSMUST00000202361]
|
| AlphaFold |
Q61699 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074846
AA Change: V452A
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: V452A
| 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 |
noncoding transcript
Transcript: ENSMUST00000201431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201452
AA Change: V452A
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: V452A
| 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 |
probably benign
Transcript: ENSMUST00000202089
AA Change: V411A
PolyPhen 2
Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: V411A
| 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 benign
Transcript: ENSMUST00000202361
AA Change: V452A
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: V452A
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
G |
5: 125,589,716 (GRCm39) |
M446R |
possibly damaging |
Het |
| Abca16 |
A |
G |
7: 120,140,500 (GRCm39) |
N1599S |
probably benign |
Het |
| Ankib1 |
G |
A |
5: 3,763,146 (GRCm39) |
Q528* |
probably null |
Het |
| Ano10 |
A |
T |
9: 122,088,606 (GRCm39) |
L347M |
possibly damaging |
Het |
| Bag6 |
T |
C |
17: 35,361,992 (GRCm39) |
|
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,086,191 (GRCm39) |
V182A |
possibly damaging |
Het |
| Capn13 |
G |
T |
17: 73,638,053 (GRCm39) |
T450N |
probably benign |
Het |
| Cbr3 |
A |
T |
16: 93,480,331 (GRCm39) |
E40V |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,955,126 (GRCm39) |
I159T |
probably damaging |
Het |
| Cela3b |
T |
C |
4: 137,152,382 (GRCm39) |
D65G |
possibly damaging |
Het |
| Csf2rb |
T |
G |
15: 78,219,502 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,462,886 (GRCm39) |
T256I |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,497,713 (GRCm39) |
H687R |
probably benign |
Het |
| Elovl1 |
T |
C |
4: 118,288,467 (GRCm39) |
V108A |
probably benign |
Het |
| Emb |
T |
A |
13: 117,408,614 (GRCm39) |
N318K |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,617,339 (GRCm39) |
L36P |
probably damaging |
Het |
| Esco2 |
T |
G |
14: 66,064,044 (GRCm39) |
H380P |
possibly damaging |
Het |
| Gm9747 |
G |
A |
1: 82,211,809 (GRCm39) |
|
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,910,138 (GRCm39) |
M603T |
probably benign |
Het |
| Igsf21 |
C |
T |
4: 139,834,675 (GRCm39) |
G66S |
possibly damaging |
Het |
| Ints11 |
T |
C |
4: 155,969,655 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
G |
T |
5: 37,258,112 (GRCm39) |
A253S |
probably damaging |
Het |
| Met |
A |
G |
6: 17,540,576 (GRCm39) |
Y834C |
probably damaging |
Het |
| Mgl2 |
A |
G |
11: 70,024,984 (GRCm39) |
T2A |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,088,170 (GRCm39) |
V1929L |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,192,536 (GRCm39) |
S1472P |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,248,555 (GRCm39) |
|
probably benign |
Het |
| Ndufaf7 |
A |
G |
17: 79,244,931 (GRCm39) |
I17V |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,666,152 (GRCm39) |
T46A |
probably damaging |
Het |
| Or5ak22 |
C |
T |
2: 85,230,515 (GRCm39) |
D121N |
probably damaging |
Het |
| Or5h25 |
A |
T |
16: 58,930,284 (GRCm39) |
S230T |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,492 (GRCm39) |
I248M |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,786,617 (GRCm39) |
|
probably benign |
Het |
| Or8b50 |
A |
G |
9: 38,517,850 (GRCm39) |
I30V |
probably null |
Het |
| Or8k1 |
T |
G |
2: 86,047,505 (GRCm39) |
D183A |
probably damaging |
Het |
| Ppef2 |
T |
C |
5: 92,383,679 (GRCm39) |
E477G |
probably benign |
Het |
| Scmh1 |
T |
A |
4: 120,387,097 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
C |
A |
2: 66,116,281 (GRCm39) |
D1473Y |
probably damaging |
Het |
| Sdr42e1 |
C |
T |
8: 118,389,676 (GRCm39) |
V322I |
probably benign |
Het |
| Slco1a7 |
G |
T |
6: 141,658,940 (GRCm39) |
T552K |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,035,960 (GRCm39) |
A1089T |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,464,059 (GRCm39) |
Y424H |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,183 (GRCm39) |
F108L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,805,308 (GRCm39) |
N177S |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,031,872 (GRCm39) |
D401G |
probably damaging |
Het |
| Vav1 |
T |
C |
17: 57,614,067 (GRCm39) |
F650L |
possibly damaging |
Het |
| Wdr12 |
T |
C |
1: 60,119,718 (GRCm39) |
H385R |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,660,880 (GRCm39) |
M745V |
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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation