Incidental Mutation 'IGL03323:Hspa4'
ID |
416547 |
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: 0.934)
|
Stock # |
IGL03323
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
53150641-53191284 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 53155960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 648
(N648K)
|
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: N648K
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000020630 Gene: ENSMUSG00000020361 AA Change: N648K
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: ENSMUST00000139322
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
A |
T |
14: 103,292,730 (GRCm39) |
D418V |
probably damaging |
Het |
Ahdc1 |
G |
A |
4: 132,792,739 (GRCm39) |
G1327S |
probably benign |
Het |
Bcl2l15 |
A |
T |
3: 103,740,719 (GRCm39) |
I62L |
probably benign |
Het |
Ccdc7a |
A |
T |
8: 129,785,244 (GRCm39) |
D105E |
probably benign |
Het |
Cldn12 |
C |
A |
5: 5,558,421 (GRCm39) |
G2V |
probably damaging |
Het |
Eapp |
G |
T |
12: 54,720,400 (GRCm39) |
H272N |
probably damaging |
Het |
Fcrla |
A |
G |
1: 170,755,114 (GRCm39) |
|
probably benign |
Het |
Fmnl3 |
C |
T |
15: 99,219,162 (GRCm39) |
G787S |
probably damaging |
Het |
Fmo5 |
G |
T |
3: 97,546,323 (GRCm39) |
|
probably null |
Het |
Golgb1 |
G |
T |
16: 36,733,815 (GRCm39) |
E1021* |
probably null |
Het |
Iigp1 |
T |
C |
18: 60,522,896 (GRCm39) |
F5L |
probably benign |
Het |
Lad1 |
T |
A |
1: 135,758,712 (GRCm39) |
|
probably null |
Het |
Man2b2 |
T |
C |
5: 36,975,858 (GRCm39) |
D399G |
probably benign |
Het |
Mc5r |
C |
T |
18: 68,472,286 (GRCm39) |
T215I |
probably benign |
Het |
Mx2 |
A |
G |
16: 97,347,575 (GRCm39) |
S156G |
probably damaging |
Het |
Necap2 |
A |
T |
4: 140,795,533 (GRCm39) |
I242N |
possibly damaging |
Het |
Nme8 |
C |
T |
13: 19,873,120 (GRCm39) |
E175K |
probably benign |
Het |
Notch4 |
T |
A |
17: 34,801,445 (GRCm39) |
C1098S |
probably damaging |
Het |
Or1j16 |
T |
A |
2: 36,530,153 (GRCm39) |
M34K |
possibly damaging |
Het |
Or7a42 |
T |
C |
10: 78,791,434 (GRCm39) |
Y132H |
probably benign |
Het |
Osbpl9 |
A |
G |
4: 108,919,656 (GRCm39) |
|
probably benign |
Het |
Prag1 |
T |
C |
8: 36,607,162 (GRCm39) |
S968P |
probably damaging |
Het |
Qsox2 |
A |
G |
2: 26,110,991 (GRCm39) |
S125P |
probably benign |
Het |
Rptn |
A |
G |
3: 93,304,460 (GRCm39) |
T598A |
probably benign |
Het |
Slc2a2 |
G |
A |
3: 28,780,439 (GRCm39) |
M375I |
probably damaging |
Het |
Tmed9 |
C |
T |
13: 55,744,691 (GRCm39) |
T173I |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,181,184 (GRCm39) |
D402G |
probably damaging |
Het |
Ttc21a |
G |
T |
9: 119,769,602 (GRCm39) |
|
probably benign |
Het |
Vmn2r58 |
T |
C |
7: 41,511,295 (GRCm39) |
M503V |
probably benign |
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 |
IGL00957:Hspa4
|
APN |
11 |
53,171,514 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
2016-08-02 |