Incidental Mutation 'R5233:Hspa4'
ID |
470625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hspa4
|
Ensembl Gene |
ENSMUSG00000020361 |
Gene Name |
heat shock protein 4 |
Synonyms |
70kDa, APG-2, Hsp70RY, Hsp110 |
MMRRC Submission |
042805-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.933)
|
Stock # |
R5233 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
53150641-53191284 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 53177802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 103
(V103I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020630]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020630
AA Change: V103I
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000020630 Gene: ENSMUSG00000020361 AA Change: V103I
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
100% (56/56) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030619P08Rik |
T |
A |
15: 75,301,801 (GRCm39) |
|
noncoding transcript |
Het |
Aadat |
A |
G |
8: 60,979,656 (GRCm39) |
I173V |
probably benign |
Het |
Acsl6 |
G |
A |
11: 54,216,432 (GRCm39) |
V200I |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,633,353 (GRCm39) |
|
probably null |
Het |
Arhgef17 |
A |
T |
7: 100,530,576 (GRCm39) |
D1403E |
possibly damaging |
Het |
Atp10b |
A |
G |
11: 43,121,387 (GRCm39) |
T1017A |
probably benign |
Het |
Capg |
C |
T |
6: 72,532,509 (GRCm39) |
R25C |
probably damaging |
Het |
Cd22 |
A |
G |
7: 30,576,959 (GRCm39) |
I116T |
probably damaging |
Het |
Cep135 |
AGTCTGCCTTTGG |
A |
5: 76,739,690 (GRCm39) |
|
probably benign |
Het |
Ciita |
A |
T |
16: 10,327,265 (GRCm39) |
I277F |
possibly damaging |
Het |
Col15a1 |
T |
C |
4: 47,296,112 (GRCm39) |
V943A |
possibly damaging |
Het |
Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
Csn3 |
C |
T |
5: 88,077,694 (GRCm39) |
P67S |
probably benign |
Het |
Csrnp3 |
A |
G |
2: 65,852,684 (GRCm39) |
T359A |
possibly damaging |
Het |
Cttnbp2nl |
A |
G |
3: 104,912,357 (GRCm39) |
L509P |
probably damaging |
Het |
Dclk3 |
A |
G |
9: 111,297,749 (GRCm39) |
D431G |
probably benign |
Het |
Dtx3l |
A |
T |
16: 35,753,608 (GRCm39) |
C333S |
possibly damaging |
Het |
Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
Fam171a1 |
G |
C |
2: 3,179,390 (GRCm39) |
G72A |
probably damaging |
Het |
Fbxw17 |
T |
C |
13: 50,586,390 (GRCm39) |
|
probably benign |
Het |
Fry |
A |
G |
5: 150,393,185 (GRCm39) |
D605G |
possibly damaging |
Het |
Fyn |
T |
C |
10: 39,405,936 (GRCm39) |
F240S |
probably benign |
Het |
Gcfc2 |
T |
C |
6: 81,930,271 (GRCm39) |
L646P |
probably damaging |
Het |
Gm5087 |
C |
T |
14: 13,158,788 (GRCm38) |
|
noncoding transcript |
Het |
Got2 |
T |
A |
8: 96,602,477 (GRCm39) |
N91I |
probably benign |
Het |
Itgad |
A |
G |
7: 127,792,600 (GRCm39) |
|
probably null |
Het |
Krt33a |
A |
G |
11: 99,904,961 (GRCm39) |
S182P |
probably damaging |
Het |
Mcph1 |
T |
C |
8: 18,721,254 (GRCm39) |
I694T |
probably damaging |
Het |
Mmp15 |
T |
C |
8: 96,097,696 (GRCm39) |
V502A |
probably benign |
Het |
Mov10l1 |
T |
C |
15: 88,867,235 (GRCm39) |
V23A |
probably benign |
Het |
Myo9a |
T |
A |
9: 59,817,900 (GRCm39) |
N2322K |
probably damaging |
Het |
Ndst4 |
A |
G |
3: 125,503,766 (GRCm39) |
Y11C |
probably damaging |
Het |
Nell1 |
T |
C |
7: 49,826,062 (GRCm39) |
F199S |
probably damaging |
Het |
Nup210 |
C |
T |
6: 91,003,951 (GRCm39) |
V646M |
probably damaging |
Het |
Nup98 |
A |
T |
7: 101,845,029 (GRCm39) |
S13R |
unknown |
Het |
Nxf1 |
T |
C |
19: 8,741,293 (GRCm39) |
I54T |
possibly damaging |
Het |
Or8b38 |
A |
G |
9: 37,973,446 (GRCm39) |
T277A |
probably damaging |
Het |
Pcdh10 |
C |
A |
3: 45,338,626 (GRCm39) |
R928S |
probably damaging |
Het |
Pou3f3 |
A |
G |
1: 42,737,438 (GRCm39) |
N378S |
probably benign |
Het |
Rfx6 |
T |
A |
10: 51,588,187 (GRCm39) |
Y109* |
probably null |
Het |
Rorc |
T |
A |
3: 94,304,632 (GRCm39) |
V339D |
probably benign |
Het |
Scin |
T |
A |
12: 40,127,558 (GRCm39) |
I411F |
probably benign |
Het |
Serpind1 |
A |
G |
16: 17,154,758 (GRCm39) |
Y195C |
probably damaging |
Het |
Tas2r117 |
T |
C |
6: 132,780,585 (GRCm39) |
V241A |
possibly damaging |
Het |
Tet3 |
T |
A |
6: 83,363,045 (GRCm39) |
E709V |
probably damaging |
Het |
Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
Vmn1r212 |
C |
A |
13: 23,067,304 (GRCm39) |
G343V |
unknown |
Het |
Vmn2r42 |
T |
A |
7: 8,197,837 (GRCm39) |
K261* |
probably null |
Het |
Xrcc5 |
T |
A |
1: 72,379,209 (GRCm39) |
L438Q |
probably damaging |
Het |
Zfp142 |
T |
C |
1: 74,624,608 (GRCm39) |
N72S |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,809,755 (GRCm39) |
S1096R |
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 |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTCTTAAGGCAGCTCGAGC -3'
(R):5'- CTAGCAGTCCTGTTTATGGCAG -3'
Sequencing Primer
(F):5'- GCAGCTCGAGCCCAACTC -3'
(R):5'- ATCAGGTCATTGCCTCAAGG -3'
|
Posted On |
2017-03-31 |