Incidental Mutation 'R5650:Hspa4'
ID |
441379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hspa4
|
Ensembl Gene |
ENSMUSG00000020361 |
Gene Name |
heat shock protein 4 |
Synonyms |
70kDa, APG-2, Hsp70RY, Hsp110 |
MMRRC Submission |
043296-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.933)
|
Stock # |
R5650 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 96.0%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
T |
C |
6: 85,597,253 (GRCm39) |
L693P |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,614,136 (GRCm39) |
T2524A |
probably damaging |
Het |
Cdr2 |
A |
G |
7: 120,557,559 (GRCm39) |
I322T |
probably damaging |
Het |
Cep76 |
A |
T |
18: 67,758,136 (GRCm39) |
C385S |
probably damaging |
Het |
Cercam |
C |
T |
2: 29,771,827 (GRCm39) |
S549F |
probably damaging |
Het |
Coro1b |
C |
T |
19: 4,200,610 (GRCm39) |
T209I |
possibly damaging |
Het |
Dlec1 |
G |
T |
9: 118,972,662 (GRCm39) |
E1462* |
probably null |
Het |
Dlgap5 |
C |
T |
14: 47,649,196 (GRCm39) |
G166D |
probably benign |
Het |
Ep400 |
C |
T |
5: 110,843,818 (GRCm39) |
|
probably null |
Het |
Fam3d |
A |
T |
14: 8,357,142 (GRCm38) |
V96E |
probably damaging |
Het |
Fgr |
T |
G |
4: 132,727,533 (GRCm39) |
V478G |
probably benign |
Het |
Fmo9 |
T |
A |
1: 166,491,015 (GRCm39) |
I437F |
probably damaging |
Het |
Gabrd |
A |
T |
4: 155,473,081 (GRCm39) |
V64E |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,456,051 (GRCm39) |
Y385C |
probably damaging |
Het |
H4c4 |
A |
T |
13: 23,765,778 (GRCm39) |
N65I |
possibly damaging |
Het |
Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
Helz |
T |
A |
11: 107,485,972 (GRCm39) |
M127K |
probably null |
Het |
Hsp90b1 |
G |
A |
10: 86,529,367 (GRCm39) |
A310V |
probably damaging |
Het |
Kif7 |
C |
T |
7: 79,360,727 (GRCm39) |
R216H |
probably damaging |
Het |
Klhl33 |
A |
G |
14: 51,129,285 (GRCm39) |
I648T |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,912,031 (GRCm39) |
L1716* |
probably null |
Het |
Lgals9 |
T |
A |
11: 78,863,980 (GRCm39) |
N55I |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,136,110 (GRCm39) |
T606S |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,667,467 (GRCm39) |
|
probably null |
Het |
Mip |
A |
T |
10: 128,061,934 (GRCm39) |
I62F |
possibly damaging |
Het |
Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
Npepl1 |
T |
C |
2: 173,963,329 (GRCm39) |
F454L |
possibly damaging |
Het |
Or10h28 |
A |
T |
17: 33,487,858 (GRCm39) |
E53D |
probably benign |
Het |
Or1j21 |
T |
A |
2: 36,683,277 (GRCm39) |
S10T |
probably benign |
Het |
Or5ae1 |
T |
A |
7: 84,565,626 (GRCm39) |
I213N |
possibly damaging |
Het |
Or8b1b |
A |
T |
9: 38,376,023 (GRCm39) |
K229* |
probably null |
Het |
Oxct1 |
T |
A |
15: 4,172,332 (GRCm39) |
V466D |
probably damaging |
Het |
Piezo2 |
T |
A |
18: 63,144,792 (GRCm39) |
I2768F |
probably damaging |
Het |
Pitpnm1 |
C |
A |
19: 4,153,319 (GRCm39) |
D158E |
possibly damaging |
Het |
Plekho2 |
T |
C |
9: 65,464,018 (GRCm39) |
N277S |
probably benign |
Het |
Rab33b |
T |
C |
3: 51,400,837 (GRCm39) |
Y104H |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,604,331 (GRCm39) |
S473G |
probably benign |
Het |
Serpina1b |
T |
A |
12: 103,694,694 (GRCm39) |
|
probably null |
Het |
Slc25a17 |
A |
T |
15: 81,213,377 (GRCm39) |
|
probably null |
Het |
Slc43a2 |
T |
C |
11: 75,436,633 (GRCm39) |
C160R |
probably damaging |
Het |
Slc7a4 |
G |
T |
16: 17,393,548 (GRCm39) |
L84M |
possibly damaging |
Het |
Slco1a4 |
T |
A |
6: 141,755,120 (GRCm39) |
I561F |
possibly damaging |
Het |
Sowahc |
GGGAGGAGGAGGAGGAGGAGGAGGAGGA |
GGGAGGAGGAGGAGGAGGAGGAGGA |
10: 59,059,313 (GRCm39) |
|
probably benign |
Het |
Specc1 |
T |
C |
11: 62,008,793 (GRCm39) |
I183T |
probably damaging |
Het |
Sucla2 |
A |
G |
14: 73,828,569 (GRCm39) |
K362E |
probably benign |
Het |
Tcf12 |
A |
T |
9: 71,792,584 (GRCm39) |
|
probably null |
Het |
Tlr11 |
C |
T |
14: 50,598,658 (GRCm39) |
P215S |
probably benign |
Het |
Tmem41b |
A |
G |
7: 109,574,072 (GRCm39) |
S198P |
probably damaging |
Het |
Tubgcp3 |
A |
G |
8: 12,698,670 (GRCm39) |
F427S |
probably damaging |
Het |
Wdr81 |
T |
A |
11: 75,335,574 (GRCm39) |
S1752C |
probably damaging |
Het |
Zbtb7a |
A |
G |
10: 80,980,883 (GRCm39) |
Y359C |
probably damaging |
Het |
Zfp37 |
T |
C |
4: 62,110,002 (GRCm39) |
Y354C |
probably damaging |
Het |
Zmpste24 |
T |
A |
4: 120,940,074 (GRCm39) |
I191F |
possibly 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 |
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 |
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'- AGGTTAGGTCATCAGAGTGATACAG -3'
(R):5'- GTTTTACATGTGTGAAGGGTTCA -3'
Sequencing Primer
(F):5'- CAGAGTGATACAGTTCTTGCATGCAG -3'
(R):5'- CCATGGAGAGCCTCAGAATTCTTG -3'
|
Posted On |
2016-11-08 |