Incidental Mutation 'IGL01577:Actr8'
ID |
91307 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Actr8
|
Ensembl Gene |
ENSMUSG00000015971 |
Gene Name |
ARP8 actin-related protein 8 |
Synonyms |
ARP8, 5730542K05Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01577
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
29700294-29717409 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29709232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 279
(T279A)
|
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: T279A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000016115 Gene: ENSMUSG00000015971 AA Change: T279A
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: T279A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225368
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225793
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225811
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
G |
6: 92,835,128 (GRCm39) |
|
probably benign |
Het |
Apba3 |
G |
A |
10: 81,108,053 (GRCm39) |
G403D |
probably damaging |
Het |
Atp13a4 |
C |
T |
16: 29,260,102 (GRCm39) |
V235I |
possibly damaging |
Het |
Brca2 |
T |
A |
5: 150,465,085 (GRCm39) |
C1616* |
probably null |
Het |
Ccdc7a |
T |
A |
8: 129,715,244 (GRCm39) |
E280V |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,268,477 (GRCm39) |
I1241T |
possibly damaging |
Het |
Cplx4 |
G |
T |
18: 66,103,015 (GRCm39) |
A35E |
probably damaging |
Het |
Cyp2j8 |
T |
G |
4: 96,367,308 (GRCm39) |
D270A |
probably damaging |
Het |
Cyp7a1 |
T |
C |
4: 6,273,618 (GRCm39) |
D96G |
probably damaging |
Het |
Ddx11 |
G |
A |
17: 66,446,398 (GRCm39) |
R429H |
possibly damaging |
Het |
Depdc5 |
C |
A |
5: 33,113,241 (GRCm39) |
T419N |
possibly damaging |
Het |
Diaph3 |
A |
C |
14: 87,143,467 (GRCm39) |
I737R |
probably damaging |
Het |
Elf2 |
C |
T |
3: 51,163,773 (GRCm39) |
|
probably benign |
Het |
Epha6 |
T |
A |
16: 59,777,289 (GRCm39) |
I673L |
possibly damaging |
Het |
Ephx1 |
A |
G |
1: 180,829,545 (GRCm39) |
M1T |
probably null |
Het |
Fndc3a |
A |
T |
14: 72,827,298 (GRCm39) |
M84K |
probably damaging |
Het |
Gad2 |
T |
C |
2: 22,571,292 (GRCm39) |
|
probably benign |
Het |
Gba2 |
G |
A |
4: 43,573,753 (GRCm39) |
Q180* |
probably null |
Het |
Gga2 |
A |
G |
7: 121,589,006 (GRCm39) |
Y574H |
probably damaging |
Het |
Gm7168 |
A |
T |
17: 14,169,649 (GRCm39) |
R339W |
probably damaging |
Het |
Hdac10 |
T |
C |
15: 89,010,416 (GRCm39) |
E302G |
possibly damaging |
Het |
Ighv1-72 |
A |
G |
12: 115,721,893 (GRCm39) |
V21A |
possibly damaging |
Het |
Kif15 |
A |
G |
9: 122,825,399 (GRCm39) |
E774G |
probably benign |
Het |
Lig3 |
A |
G |
11: 82,674,303 (GRCm39) |
N43S |
probably benign |
Het |
Nmnat1 |
T |
A |
4: 149,554,135 (GRCm39) |
D135V |
possibly damaging |
Het |
Or1s2 |
A |
G |
19: 13,758,162 (GRCm39) |
Y62C |
probably damaging |
Het |
Or52n2 |
A |
G |
7: 104,542,730 (GRCm39) |
F35S |
probably benign |
Het |
Pak6 |
A |
C |
2: 118,524,129 (GRCm39) |
K428T |
probably benign |
Het |
Pou2f3 |
G |
A |
9: 43,058,178 (GRCm39) |
Q56* |
probably null |
Het |
Prep |
T |
C |
10: 44,948,144 (GRCm39) |
|
probably benign |
Het |
Psd4 |
C |
T |
2: 24,293,234 (GRCm39) |
P700S |
probably damaging |
Het |
Rad18 |
A |
T |
6: 112,642,302 (GRCm39) |
|
probably benign |
Het |
Rbbp5 |
A |
G |
1: 132,420,393 (GRCm39) |
K209E |
possibly damaging |
Het |
Smurf1 |
G |
A |
5: 144,829,998 (GRCm39) |
T335I |
probably damaging |
Het |
Tbcd |
G |
A |
11: 121,387,838 (GRCm39) |
R72Q |
probably damaging |
Het |
Tsga10 |
T |
C |
1: 37,874,538 (GRCm39) |
T116A |
possibly damaging |
Het |
Unc80 |
A |
G |
1: 66,569,127 (GRCm39) |
|
probably null |
Het |
Vmn1r87 |
C |
A |
7: 12,865,775 (GRCm39) |
V171F |
probably benign |
Het |
Ythdc2 |
A |
T |
18: 44,991,349 (GRCm39) |
M786L |
probably benign |
Het |
Zmym6 |
C |
A |
4: 126,999,223 (GRCm39) |
T469K |
probably 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 |
|
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 |
R5727:Actr8
|
UTSW |
14 |
29,712,838 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
Posted On |
2013-12-09 |