Incidental Mutation 'R5727:Actr8'
| ID |
452572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actr8
|
| Ensembl Gene |
ENSMUSG00000015971 |
| Gene Name |
ARP8 actin-related protein 8 |
| Synonyms |
ARP8, 5730542K05Rik |
| MMRRC Submission |
043190-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5727 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
29700294-29717409 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29712838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 494
(L494M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016115]
[ENSMUST00000224797]
[ENSMUST00000225811]
|
| AlphaFold |
Q8R2S9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016115
AA Change: L494M
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000016115
Gene: ENSMUSG00000015971
AA Change: L494M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
27 |
N/A |
INTRINSIC |
|
ACTIN
|
46 |
621 |
3.34e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224067
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224797
AA Change: L494M
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225368
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225811
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
T |
19: 8,994,111 (GRCm39) |
A5132S |
probably damaging |
Het |
| Cadps |
G |
A |
14: 12,486,525 (GRCm38) |
Q882* |
probably null |
Het |
| Cdhr2 |
G |
A |
13: 54,872,121 (GRCm39) |
V662M |
possibly damaging |
Het |
| Cdyl2 |
T |
A |
8: 117,309,907 (GRCm39) |
I350F |
probably damaging |
Het |
| Cfap44 |
T |
G |
16: 44,255,805 (GRCm39) |
F966V |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,232,883 (GRCm39) |
R704* |
probably null |
Het |
| Dnah11 |
A |
T |
12: 118,090,841 (GRCm39) |
F1034L |
probably damaging |
Het |
| Dpep2 |
A |
G |
8: 106,713,075 (GRCm39) |
V440A |
probably benign |
Het |
| Ehmt2 |
A |
T |
17: 35,125,008 (GRCm39) |
M11L |
possibly damaging |
Het |
| Eml2 |
C |
T |
7: 18,924,685 (GRCm39) |
H185Y |
probably damaging |
Het |
| Gm10845 |
T |
A |
14: 80,100,770 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8122 |
T |
G |
14: 43,091,477 (GRCm39) |
N97T |
unknown |
Het |
| Gnb1 |
A |
G |
4: 155,639,559 (GRCm39) |
T263A |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Ier5l |
A |
G |
2: 30,363,171 (GRCm39) |
C285R |
possibly damaging |
Het |
| Kif21b |
A |
G |
1: 136,097,747 (GRCm39) |
N1336D |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,122,219 (GRCm39) |
H2722R |
possibly damaging |
Het |
| Mdm2 |
A |
G |
10: 117,538,212 (GRCm39) |
M13T |
possibly damaging |
Het |
| Micall1 |
T |
A |
15: 79,014,678 (GRCm39) |
Y685N |
possibly damaging |
Het |
| Mthfd1l |
T |
G |
10: 4,053,302 (GRCm39) |
S884A |
possibly damaging |
Het |
| Nkiras2 |
A |
G |
11: 100,515,853 (GRCm39) |
Y60C |
probably damaging |
Het |
| Oc90 |
T |
G |
15: 65,753,388 (GRCm39) |
R342S |
possibly damaging |
Het |
| Or11h23 |
C |
A |
14: 50,947,817 (GRCm39) |
T10K |
possibly damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,544 (GRCm39) |
L162P |
possibly damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,197 (GRCm39) |
R172* |
probably null |
Het |
| Or4p20 |
T |
A |
2: 88,253,791 (GRCm39) |
I193F |
probably benign |
Het |
| Or9s13 |
A |
G |
1: 92,547,900 (GRCm39) |
N91D |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp9 |
G |
T |
16: 35,784,467 (GRCm39) |
E507* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,605,705 (GRCm39) |
I175T |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,914,370 (GRCm39) |
E604G |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,251,815 (GRCm39) |
|
probably null |
Het |
| Rragc |
T |
C |
4: 123,813,828 (GRCm39) |
Y141H |
possibly damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,280 (GRCm39) |
V257A |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,102,674 (GRCm39) |
T80A |
probably benign |
Het |
| Sorcs2 |
G |
A |
5: 36,188,630 (GRCm39) |
A826V |
possibly damaging |
Het |
| Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
| Tmem161b |
T |
A |
13: 84,434,909 (GRCm39) |
S302R |
possibly damaging |
Het |
| Ube2o |
A |
T |
11: 116,430,496 (GRCm39) |
F1081I |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,608 (GRCm39) |
I658V |
probably benign |
Het |
| Vwa3b |
T |
G |
1: 37,174,600 (GRCm39) |
L672V |
probably benign |
Het |
| Wscd2 |
T |
C |
5: 113,715,411 (GRCm39) |
F417S |
possibly damaging |
Het |
|
| Other mutations in Actr8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01089:Actr8
|
APN |
14 |
29,710,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01449:Actr8
|
APN |
14 |
29,712,927 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01577:Actr8
|
APN |
14 |
29,709,232 (GRCm39) |
missense |
probably benign |
|
|
IGL02118:Actr8
|
APN |
14 |
29,704,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02647:Actr8
|
APN |
14 |
29,712,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02659:Actr8
|
APN |
14 |
29,708,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02696:Actr8
|
APN |
14 |
29,704,628 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03015:Actr8
|
APN |
14 |
29,708,273 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03335:Actr8
|
APN |
14 |
29,700,514 (GRCm39) |
missense |
probably benign |
|
|
R0512:Actr8
|
UTSW |
14 |
29,700,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0735:Actr8
|
UTSW |
14 |
29,711,669 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0926:Actr8
|
UTSW |
14 |
29,709,181 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1443:Actr8
|
UTSW |
14 |
29,706,056 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1470:Actr8
|
UTSW |
14 |
29,708,926 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1470:Actr8
|
UTSW |
14 |
29,708,926 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1616:Actr8
|
UTSW |
14 |
29,704,601 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2097:Actr8
|
UTSW |
14 |
29,709,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2240:Actr8
|
UTSW |
14 |
29,711,714 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2570:Actr8
|
UTSW |
14 |
29,709,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Actr8
|
UTSW |
14 |
29,704,672 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5439:Actr8
|
UTSW |
14 |
29,708,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5697:Actr8
|
UTSW |
14 |
29,713,630 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5860:Actr8
|
UTSW |
14 |
29,708,242 (GRCm39) |
nonsense |
probably null |
|
|
R5988:Actr8
|
UTSW |
14 |
29,715,030 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6006:Actr8
|
UTSW |
14 |
29,706,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6009:Actr8
|
UTSW |
14 |
29,700,454 (GRCm39) |
unclassified |
probably benign |
|
|
R6155:Actr8
|
UTSW |
14 |
29,700,546 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6190:Actr8
|
UTSW |
14 |
29,713,674 (GRCm39) |
nonsense |
probably null |
|
|
R6329:Actr8
|
UTSW |
14 |
29,715,041 (GRCm39) |
nonsense |
probably null |
|
|
R6483:Actr8
|
UTSW |
14 |
29,700,538 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6517:Actr8
|
UTSW |
14 |
29,704,673 (GRCm39) |
nonsense |
probably null |
|
|
R6562:Actr8
|
UTSW |
14 |
29,708,411 (GRCm39) |
splice site |
probably null |
|
|
R7484:Actr8
|
UTSW |
14 |
29,714,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Actr8
|
UTSW |
14 |
29,706,030 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8236:Actr8
|
UTSW |
14 |
29,704,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8516:Actr8
|
UTSW |
14 |
29,712,856 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9484:Actr8
|
UTSW |
14 |
29,708,301 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Actr8
|
UTSW |
14 |
29,709,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Actr8
|
UTSW |
14 |
29,708,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACCAGCAATGTCGGTTTC -3'
(R):5'- AGCAGGCTTGATGATTTCTGAG -3'
Sequencing Primer
(F):5'- TTACAGTCTGCAAAAGCCACTG -3'
(R):5'- TCTGAGAAAATGCTGCACTTCAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation