Incidental Mutation 'IGL02324:Hspa4'
ID |
288407 |
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 # |
IGL02324
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
53150641-53191284 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 53190885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020630]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000020630
|
SMART Domains |
Protein: ENSMUSP00000020630 Gene: ENSMUSG00000020361
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
A |
3: 151,203,511 (GRCm39) |
C124S |
probably damaging |
Het |
Aldh1a7 |
T |
C |
19: 20,704,368 (GRCm39) |
N42S |
probably damaging |
Het |
Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
C1qb |
C |
A |
4: 136,607,811 (GRCm39) |
R184L |
possibly damaging |
Het |
Cacna1s |
A |
G |
1: 136,002,914 (GRCm39) |
|
probably benign |
Het |
Cdk20 |
A |
G |
13: 64,585,734 (GRCm39) |
E244G |
probably benign |
Het |
Copg2 |
C |
A |
6: 30,840,469 (GRCm39) |
|
probably null |
Het |
Cyp2d40 |
A |
T |
15: 82,645,149 (GRCm39) |
|
probably benign |
Het |
Cyp2j6 |
A |
G |
4: 96,414,170 (GRCm39) |
I365T |
probably damaging |
Het |
Dhx29 |
A |
G |
13: 113,064,342 (GRCm39) |
K6E |
probably damaging |
Het |
Dpp10 |
T |
A |
1: 123,295,531 (GRCm39) |
T539S |
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,046,048 (GRCm39) |
I542K |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,493,593 (GRCm39) |
Y3913C |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,536,822 (GRCm39) |
T1264I |
probably benign |
Het |
Fmnl1 |
A |
G |
11: 103,070,364 (GRCm39) |
D51G |
probably damaging |
Het |
Gm17093 |
A |
G |
14: 44,755,807 (GRCm39) |
T25A |
unknown |
Het |
Gpatch2 |
A |
G |
1: 186,957,936 (GRCm39) |
E97G |
probably damaging |
Het |
Hcn1 |
T |
C |
13: 118,039,422 (GRCm39) |
L446P |
unknown |
Het |
Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
Krtap16-1 |
C |
T |
11: 99,877,129 (GRCm39) |
V92M |
probably damaging |
Het |
Med23 |
A |
T |
10: 24,773,239 (GRCm39) |
Q281L |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,039,873 (GRCm39) |
S963P |
probably benign |
Het |
Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,479,643 (GRCm39) |
S1217P |
probably damaging |
Het |
Myocd |
C |
A |
11: 65,069,484 (GRCm39) |
L785F |
probably benign |
Het |
Nell2 |
T |
C |
15: 95,126,982 (GRCm39) |
T798A |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,092,808 (GRCm39) |
|
probably benign |
Het |
Olfm5 |
T |
C |
7: 103,803,302 (GRCm39) |
|
probably null |
Het |
Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
P2ry1 |
A |
T |
3: 60,911,199 (GRCm39) |
N113Y |
possibly damaging |
Het |
Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
Pappa |
A |
G |
4: 65,115,045 (GRCm39) |
R714G |
probably damaging |
Het |
Plcd1 |
A |
G |
9: 118,901,710 (GRCm39) |
F579L |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,155,238 (GRCm39) |
V664A |
probably benign |
Het |
Slc27a5 |
T |
A |
7: 12,731,487 (GRCm39) |
Q168L |
probably benign |
Het |
Spag8 |
T |
C |
4: 43,651,781 (GRCm39) |
E395G |
probably damaging |
Het |
Stfa2l1 |
T |
C |
16: 35,982,138 (GRCm39) |
Y70H |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
Tnfrsf25 |
C |
A |
4: 152,203,779 (GRCm39) |
Q296K |
probably damaging |
Het |
Trpm3 |
T |
A |
19: 22,676,143 (GRCm39) |
I103N |
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 |
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 |
2015-04-16 |