Incidental Mutation 'R4360:Hspa4'
ID |
324862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hspa4
|
Ensembl Gene |
ENSMUSG00000020361 |
Gene Name |
heat shock protein 4 |
Synonyms |
70kDa, APG-2, Hsp70RY, Hsp110 |
MMRRC Submission |
041111-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.933)
|
Stock # |
R4360 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
53150641-53191284 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53155919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 662
(Y662C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020630]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020630
AA Change: Y662C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020630 Gene: ENSMUSG00000020361 AA Change: Y662C
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
|
Meta Mutation Damage Score |
0.5797 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (50/50) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
Adgra3 |
T |
C |
5: 50,147,552 (GRCm39) |
E496G |
possibly damaging |
Het |
Atg14 |
C |
G |
14: 47,805,827 (GRCm39) |
E13Q |
probably benign |
Het |
BC023105 |
G |
T |
18: 60,575,073 (GRCm39) |
|
noncoding transcript |
Het |
Chd6 |
A |
G |
2: 160,791,776 (GRCm39) |
V2527A |
possibly damaging |
Het |
Csn1s2a |
G |
T |
5: 87,929,700 (GRCm39) |
V100L |
possibly damaging |
Het |
Fah |
G |
A |
7: 84,238,856 (GRCm39) |
L330F |
probably damaging |
Het |
Fmo2 |
T |
C |
1: 162,709,583 (GRCm39) |
N268S |
probably damaging |
Het |
Foxg1 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
12: 49,431,475 (GRCm39) |
|
probably benign |
Het |
Frmd4a |
A |
T |
2: 4,606,052 (GRCm39) |
H287L |
probably damaging |
Het |
G2e3 |
T |
A |
12: 51,410,197 (GRCm39) |
|
probably benign |
Het |
Gm1758 |
A |
T |
16: 14,324,215 (GRCm39) |
|
noncoding transcript |
Het |
Gm7204 |
T |
C |
16: 48,039,196 (GRCm39) |
|
noncoding transcript |
Het |
Gm829 |
T |
C |
4: 45,718,819 (GRCm39) |
|
noncoding transcript |
Het |
Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
Islr |
T |
A |
9: 58,064,887 (GRCm39) |
N207Y |
probably damaging |
Het |
Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
A |
G |
5: 125,106,036 (GRCm39) |
S1546P |
probably damaging |
Het |
Or13a25 |
T |
C |
7: 140,247,730 (GRCm39) |
F170L |
probably damaging |
Het |
Or56a3 |
A |
C |
7: 104,735,460 (GRCm39) |
E179A |
probably damaging |
Het |
Or7g18 |
G |
A |
9: 18,787,013 (GRCm39) |
C127Y |
probably damaging |
Het |
Parp4 |
A |
G |
14: 56,866,661 (GRCm39) |
D1075G |
possibly damaging |
Het |
Pkp2 |
A |
G |
16: 16,086,546 (GRCm39) |
I736V |
probably benign |
Het |
Plekha8 |
T |
C |
6: 54,599,171 (GRCm39) |
I235T |
probably benign |
Het |
Polq |
A |
G |
16: 36,880,701 (GRCm39) |
D955G |
probably benign |
Het |
Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
Psmd1 |
A |
G |
1: 86,061,459 (GRCm39) |
K890E |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scpep1 |
A |
G |
11: 88,821,070 (GRCm39) |
Y366H |
possibly damaging |
Het |
Slc18a3 |
A |
G |
14: 32,185,882 (GRCm39) |
V167A |
probably benign |
Het |
Sp8 |
A |
G |
12: 118,812,400 (GRCm39) |
D85G |
possibly damaging |
Het |
Stard3nl |
G |
A |
13: 19,554,654 (GRCm39) |
S144L |
probably damaging |
Het |
Stk4 |
A |
G |
2: 163,930,879 (GRCm39) |
E160G |
possibly damaging |
Het |
Tbcb |
T |
C |
7: 29,926,460 (GRCm39) |
N119S |
probably benign |
Het |
Tnc |
G |
T |
4: 63,935,161 (GRCm39) |
R592S |
probably benign |
Het |
Trem3 |
T |
A |
17: 48,556,801 (GRCm39) |
S91T |
probably benign |
Het |
Trpc6 |
A |
G |
9: 8,610,267 (GRCm39) |
E245G |
probably benign |
Het |
Usp40 |
C |
T |
1: 87,880,083 (GRCm39) |
R1036H |
probably damaging |
Het |
Usp47 |
G |
T |
7: 111,654,139 (GRCm39) |
G112C |
probably damaging |
Het |
Wdr35 |
T |
C |
12: 9,024,149 (GRCm39) |
|
probably benign |
Het |
Zc3h14 |
A |
G |
12: 98,746,456 (GRCm39) |
K555R |
probably benign |
Het |
Zfp26 |
T |
C |
9: 20,349,869 (GRCm39) |
S232G |
probably benign |
Het |
Zfp811 |
T |
C |
17: 33,017,432 (GRCm39) |
T202A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTAGGTCATCAGAGTGATACA -3'
(R):5'- AGTTTTACATGTGTGAAGGGTTC -3'
Sequencing Primer
(F):5'- CAGAGTGATACAGTTCTTGCATGCAG -3'
(R):5'- CCATGGAGAGCCTCAGAATTCTTG -3'
|
Posted On |
2015-07-06 |