Incidental Mutation 'IGL00957:Hspa4'
ID |
28591 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hspa4
|
Ensembl Gene |
ENSMUSG00000020361 |
Gene Name |
heat shock protein 4 |
Synonyms |
70kDa, APG-2, Hsp70RY, Hsp110 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.933)
|
Stock # |
IGL00957
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
53150641-53191284 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 53171514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 230
(T230I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020630]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020630
AA Change: T230I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000020630 Gene: ENSMUSG00000020361 AA Change: T230I
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
608 |
2.9e-211 |
PFAM |
Pfam:HSP70
|
590 |
693 |
3.8e-10 |
PFAM |
low complexity region
|
787 |
800 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151854
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit age-dependent neurofibrillary tangles and tau deposits, impaired contextual conditioning, and impaired bar grasping. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
T |
A |
1: 63,573,470 (GRCm39) |
I246N |
probably benign |
Het |
Adora1 |
A |
G |
1: 134,130,951 (GRCm39) |
L240P |
probably damaging |
Het |
Ago4 |
C |
T |
4: 126,410,926 (GRCm39) |
V188I |
probably benign |
Het |
Ccdc138 |
T |
A |
10: 58,364,838 (GRCm39) |
|
probably benign |
Het |
Cpeb4 |
A |
G |
11: 31,823,204 (GRCm39) |
Y306C |
probably damaging |
Het |
Ctsz |
T |
C |
2: 174,269,771 (GRCm39) |
E272G |
probably damaging |
Het |
Dst |
G |
A |
1: 34,267,488 (GRCm39) |
V5155I |
probably benign |
Het |
Fabp12 |
C |
T |
3: 10,315,273 (GRCm39) |
|
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Hpcal1 |
G |
A |
12: 17,837,591 (GRCm39) |
E142K |
probably benign |
Het |
Htt |
T |
C |
5: 34,964,068 (GRCm39) |
V387A |
probably benign |
Het |
Loxl3 |
A |
G |
6: 83,025,747 (GRCm39) |
|
probably benign |
Het |
Lrrc30 |
G |
A |
17: 67,939,499 (GRCm39) |
S27L |
probably benign |
Het |
Mtpn |
A |
G |
6: 35,516,547 (GRCm39) |
|
probably benign |
Het |
Mug2 |
A |
G |
6: 122,017,613 (GRCm39) |
Y450C |
probably damaging |
Het |
Ncl |
A |
G |
1: 86,284,091 (GRCm39) |
|
probably null |
Het |
Or8k23 |
A |
T |
2: 86,186,477 (GRCm39) |
V83E |
possibly damaging |
Het |
Psmd3 |
T |
A |
11: 98,576,394 (GRCm39) |
S99T |
probably benign |
Het |
Rb1cc1 |
G |
A |
1: 6,319,763 (GRCm39) |
A1061T |
probably damaging |
Het |
Rhbdd1 |
T |
C |
1: 82,318,362 (GRCm39) |
Y82H |
probably damaging |
Het |
Slc5a6 |
T |
C |
5: 31,196,279 (GRCm39) |
|
probably benign |
Het |
Sox6 |
T |
C |
7: 115,376,327 (GRCm39) |
K135R |
probably damaging |
Het |
Tasor2 |
T |
A |
13: 3,627,101 (GRCm39) |
I950F |
possibly damaging |
Het |
Tbx21 |
A |
G |
11: 96,989,920 (GRCm39) |
V424A |
probably benign |
Het |
Trpa1 |
A |
T |
1: 14,951,892 (GRCm39) |
Y936N |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,569,280 (GRCm39) |
D25458E |
probably damaging |
Het |
Zfp629 |
C |
T |
7: 127,211,896 (GRCm39) |
V6M |
probably damaging |
Het |
|
Other mutations in Hspa4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00479:Hspa4
|
APN |
11 |
53,171,544 (GRCm39) |
splice site |
probably null |
|
IGL00701:Hspa4
|
APN |
11 |
53,161,860 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02324:Hspa4
|
APN |
11 |
53,190,885 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02328:Hspa4
|
APN |
11 |
53,190,885 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02336:Hspa4
|
APN |
11 |
53,153,200 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02441:Hspa4
|
APN |
11 |
53,161,809 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03323:Hspa4
|
APN |
11 |
53,155,960 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03356:Hspa4
|
APN |
11 |
53,160,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R0027:Hspa4
|
UTSW |
11 |
53,174,412 (GRCm39) |
missense |
probably benign |
0.00 |
R0398:Hspa4
|
UTSW |
11 |
53,163,706 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0568:Hspa4
|
UTSW |
11 |
53,153,703 (GRCm39) |
splice site |
probably benign |
|
R0655:Hspa4
|
UTSW |
11 |
53,160,519 (GRCm39) |
missense |
probably benign |
0.02 |
R1876:Hspa4
|
UTSW |
11 |
53,174,983 (GRCm39) |
missense |
probably benign |
0.16 |
R2225:Hspa4
|
UTSW |
11 |
53,177,760 (GRCm39) |
missense |
probably benign |
0.28 |
R3813:Hspa4
|
UTSW |
11 |
53,161,806 (GRCm39) |
missense |
probably benign |
0.21 |
R3937:Hspa4
|
UTSW |
11 |
53,161,776 (GRCm39) |
missense |
probably benign |
0.13 |
R4360:Hspa4
|
UTSW |
11 |
53,155,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R4457:Hspa4
|
UTSW |
11 |
53,171,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R4492:Hspa4
|
UTSW |
11 |
53,171,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R4751:Hspa4
|
UTSW |
11 |
53,175,026 (GRCm39) |
missense |
probably benign |
0.22 |
R5032:Hspa4
|
UTSW |
11 |
53,179,950 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5233:Hspa4
|
UTSW |
11 |
53,177,802 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5320:Hspa4
|
UTSW |
11 |
53,153,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R5650:Hspa4
|
UTSW |
11 |
53,155,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R6108:Hspa4
|
UTSW |
11 |
53,152,539 (GRCm39) |
missense |
probably damaging |
0.97 |
R6211:Hspa4
|
UTSW |
11 |
53,153,766 (GRCm39) |
missense |
probably benign |
0.06 |
R6232:Hspa4
|
UTSW |
11 |
53,153,766 (GRCm39) |
missense |
probably benign |
0.06 |
R6234:Hspa4
|
UTSW |
11 |
53,153,766 (GRCm39) |
missense |
probably benign |
0.06 |
R6235:Hspa4
|
UTSW |
11 |
53,153,766 (GRCm39) |
missense |
probably benign |
0.06 |
R6243:Hspa4
|
UTSW |
11 |
53,153,766 (GRCm39) |
missense |
probably benign |
0.06 |
R6245:Hspa4
|
UTSW |
11 |
53,153,766 (GRCm39) |
missense |
probably benign |
0.06 |
R6468:Hspa4
|
UTSW |
11 |
53,155,883 (GRCm39) |
missense |
probably benign |
0.03 |
R7194:Hspa4
|
UTSW |
11 |
53,156,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R7308:Hspa4
|
UTSW |
11 |
53,157,930 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7654:Hspa4
|
UTSW |
11 |
53,190,951 (GRCm39) |
missense |
probably damaging |
0.98 |
R7731:Hspa4
|
UTSW |
11 |
53,157,791 (GRCm39) |
critical splice donor site |
probably null |
|
R7813:Hspa4
|
UTSW |
11 |
53,162,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R7841:Hspa4
|
UTSW |
11 |
53,157,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7849:Hspa4
|
UTSW |
11 |
53,171,530 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7913:Hspa4
|
UTSW |
11 |
53,153,134 (GRCm39) |
missense |
probably benign |
0.01 |
R7980:Hspa4
|
UTSW |
11 |
53,171,404 (GRCm39) |
missense |
probably benign |
0.22 |
R8679:Hspa4
|
UTSW |
11 |
53,160,691 (GRCm39) |
missense |
probably damaging |
0.98 |
R9012:Hspa4
|
UTSW |
11 |
53,159,402 (GRCm39) |
missense |
probably benign |
0.14 |
R9129:Hspa4
|
UTSW |
11 |
53,174,463 (GRCm39) |
nonsense |
probably null |
|
R9230:Hspa4
|
UTSW |
11 |
53,171,466 (GRCm39) |
missense |
probably benign |
0.22 |
R9631:Hspa4
|
UTSW |
11 |
53,160,582 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Posted On |
2013-04-17 |