Incidental Mutation 'IGL02441:Hspa4'
| ID |
293973 |
| 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 # |
IGL02441
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
53150641-53191284 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53161809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 448
(S448T)
|
| 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: S448T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000020630
Gene: ENSMUSG00000020361
AA Change: S448T
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg8 |
C |
T |
7: 97,029,504 (GRCm39) |
R179C |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,254,631 (GRCm39) |
M242T |
probably damaging |
Het |
| Atad1 |
C |
T |
19: 32,684,348 (GRCm39) |
V17I |
probably benign |
Het |
| Bag4 |
A |
G |
8: 26,258,136 (GRCm39) |
V397A |
probably damaging |
Het |
| Brd7 |
A |
G |
8: 89,070,218 (GRCm39) |
V396A |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr4 |
T |
A |
9: 107,870,466 (GRCm39) |
I123N |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,189,186 (GRCm39) |
F609L |
probably benign |
Het |
| Clec3b |
C |
A |
9: 122,980,178 (GRCm39) |
P24T |
possibly damaging |
Het |
| Ctsg |
T |
A |
14: 56,339,869 (GRCm39) |
T9S |
probably benign |
Het |
| Dalrd3 |
A |
T |
9: 108,448,725 (GRCm39) |
|
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,753,222 (GRCm39) |
V286E |
possibly damaging |
Het |
| Dpep2 |
G |
A |
8: 106,711,723 (GRCm39) |
A568V |
probably benign |
Het |
| Dph5 |
A |
C |
3: 115,720,390 (GRCm39) |
Q192P |
possibly damaging |
Het |
| Eppin |
T |
A |
2: 164,433,698 (GRCm39) |
R37* |
probably null |
Het |
| Esyt1 |
A |
G |
10: 128,348,293 (GRCm39) |
L865P |
possibly damaging |
Het |
| Exoc6b |
A |
G |
6: 84,981,990 (GRCm39) |
L102P |
probably damaging |
Het |
| Foxo6 |
A |
G |
4: 120,125,232 (GRCm39) |
I521T |
possibly damaging |
Het |
| Guca1a |
A |
T |
17: 47,705,578 (GRCm39) |
|
probably benign |
Het |
| Hpx |
A |
G |
7: 105,241,430 (GRCm39) |
F327S |
probably damaging |
Het |
| Hspa12b |
A |
G |
2: 130,980,515 (GRCm39) |
M145V |
probably null |
Het |
| Kbtbd6 |
T |
C |
14: 79,690,759 (GRCm39) |
Y422H |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,937,441 (GRCm39) |
D677V |
probably benign |
Het |
| Ldb1 |
C |
T |
19: 46,024,195 (GRCm39) |
E111K |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,281,029 (GRCm39) |
S3823P |
probably damaging |
Het |
| Man1a2 |
G |
A |
3: 100,499,189 (GRCm39) |
T415I |
probably benign |
Het |
| Map3k2 |
T |
C |
18: 32,333,099 (GRCm39) |
|
probably benign |
Het |
| Morn5 |
T |
A |
2: 35,945,038 (GRCm39) |
Y87* |
probably null |
Het |
| Mpp3 |
T |
C |
11: 101,900,501 (GRCm39) |
D326G |
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,336 (GRCm39) |
H137R |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,102,260 (GRCm39) |
P292T |
probably damaging |
Het |
| Nlrp2 |
C |
A |
7: 5,338,566 (GRCm39) |
|
probably null |
Het |
| Noxo1 |
G |
A |
17: 24,918,030 (GRCm39) |
S112N |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,212,885 (GRCm39) |
K319N |
probably benign |
Het |
| Or8b38 |
A |
T |
9: 37,973,233 (GRCm39) |
I206L |
probably benign |
Het |
| Osbpl7 |
C |
A |
11: 96,958,528 (GRCm39) |
Q728K |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,280,282 (GRCm39) |
E702D |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,205,933 (GRCm39) |
D1492G |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,908,103 (GRCm39) |
K1007E |
possibly damaging |
Het |
| Ppp6r3 |
G |
A |
19: 3,514,693 (GRCm39) |
P141S |
probably benign |
Het |
| Prrt3 |
T |
C |
6: 113,473,977 (GRCm39) |
T354A |
probably damaging |
Het |
| Ptk2 |
C |
A |
15: 73,192,675 (GRCm39) |
W181L |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,995,527 (GRCm39) |
H915Q |
probably benign |
Het |
| Selenbp2 |
G |
T |
3: 94,611,371 (GRCm39) |
V361L |
probably benign |
Het |
| Slamf7 |
A |
G |
1: 171,468,625 (GRCm39) |
L89P |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,937,505 (GRCm39) |
V599M |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,494,467 (GRCm39) |
S921I |
probably damaging |
Het |
| Smc4 |
C |
A |
3: 68,913,544 (GRCm39) |
A44E |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,087,513 (GRCm39) |
|
probably benign |
Het |
| Tead2 |
T |
A |
7: 44,866,845 (GRCm39) |
I68N |
probably damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,902,143 (GRCm39) |
S1680T |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,197,438 (GRCm39) |
V386A |
possibly damaging |
Het |
| Tpx2 |
C |
A |
2: 152,724,207 (GRCm39) |
P328T |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,576,332 (GRCm39) |
I24854F |
probably damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,794,552 (GRCm39) |
R43H |
possibly damaging |
Het |
| Zfp609 |
A |
G |
9: 65,610,611 (GRCm39) |
L784S |
possibly damaging |
Het |
| Zfp703 |
T |
C |
8: 27,470,036 (GRCm39) |
S567P |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,455 (GRCm39) |
I140T |
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 |
|
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 |
2015-04-16 |
Incidental Mutation