Incidental Mutation 'R6009:Actr8'
ID |
479666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actr8
|
Ensembl Gene |
ENSMUSG00000015971 |
Gene Name |
ARP8 actin-related protein 8 |
Synonyms |
ARP8, 5730542K05Rik |
MMRRC Submission |
044186-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6009 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
29700294-29717409 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 29700454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153459
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016115]
[ENSMUST00000112268]
[ENSMUST00000223998]
[ENSMUST00000224797]
[ENSMUST00000225811]
|
AlphaFold |
Q8R2S9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000016115
AA Change: N11S
|
SMART Domains |
Protein: ENSMUSP00000016115 Gene: ENSMUSG00000015971 AA Change: N11S
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
27 |
N/A |
INTRINSIC |
ACTIN
|
46 |
621 |
3.34e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112268
|
SMART Domains |
Protein: ENSMUSP00000107887 Gene: ENSMUSG00000042682
Domain | Start | End | E-Value | Type |
Pfam:DUF2763
|
2 |
91 |
6e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133229
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223998
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224343
|
Predicted Effect |
unknown
Transcript: ENSMUST00000224797
AA Change: N11S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225793
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225811
|
Meta Mutation Damage Score |
0.1809 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1 |
T |
C |
5: 36,154,904 (GRCm39) |
S683P |
probably damaging |
Het |
Chid1 |
T |
A |
7: 141,109,493 (GRCm39) |
D131V |
probably damaging |
Het |
Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
Crlf1 |
A |
C |
8: 70,956,129 (GRCm39) |
K403T |
probably damaging |
Het |
Ctdspl2 |
T |
G |
2: 121,819,319 (GRCm39) |
N201K |
probably benign |
Het |
Cyb561a3 |
G |
A |
19: 10,564,172 (GRCm39) |
V171I |
possibly damaging |
Het |
Dazap1 |
T |
C |
10: 80,121,138 (GRCm39) |
|
probably benign |
Het |
Dbf4 |
G |
T |
5: 8,453,718 (GRCm39) |
Q235K |
probably damaging |
Het |
Dgka |
C |
T |
10: 128,559,548 (GRCm39) |
G471D |
probably damaging |
Het |
Fam13b |
A |
T |
18: 34,630,458 (GRCm39) |
F100Y |
possibly damaging |
Het |
Flii |
A |
T |
11: 60,611,583 (GRCm39) |
L376* |
probably null |
Het |
Fnip1 |
G |
T |
11: 54,393,097 (GRCm39) |
G487V |
probably damaging |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Golgb1 |
G |
T |
16: 36,735,321 (GRCm39) |
A1523S |
probably damaging |
Het |
Gstm4 |
A |
G |
3: 107,950,659 (GRCm39) |
V114A |
possibly damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,246,602 (GRCm39) |
F1569S |
possibly damaging |
Het |
Gtf3c5 |
A |
T |
2: 28,461,177 (GRCm39) |
D312E |
probably benign |
Het |
Gtpbp1 |
G |
A |
15: 79,596,297 (GRCm39) |
V149M |
probably damaging |
Het |
Hoxa7 |
C |
T |
6: 52,194,367 (GRCm39) |
V7M |
probably damaging |
Het |
Il17f |
C |
T |
1: 20,849,510 (GRCm39) |
|
probably null |
Het |
Ints9 |
T |
C |
14: 65,245,531 (GRCm39) |
V263A |
probably benign |
Het |
Kansl1l |
C |
T |
1: 66,774,759 (GRCm39) |
C689Y |
probably benign |
Het |
Kctd7 |
G |
A |
5: 130,174,039 (GRCm39) |
G39E |
probably damaging |
Het |
Krt82 |
T |
A |
15: 101,453,540 (GRCm39) |
D282V |
probably benign |
Het |
Lemd1 |
G |
T |
1: 132,155,990 (GRCm39) |
E11* |
probably null |
Het |
Maml2 |
A |
G |
9: 13,532,294 (GRCm39) |
T503A |
probably benign |
Het |
Mief2 |
A |
G |
11: 60,622,485 (GRCm39) |
T352A |
probably benign |
Het |
Msantd1 |
C |
A |
5: 35,075,049 (GRCm39) |
T37K |
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,243,462 (GRCm39) |
E94G |
probably damaging |
Het |
Naaa |
A |
T |
5: 92,407,440 (GRCm39) |
L353Q |
probably benign |
Het |
Nek5 |
T |
C |
8: 22,610,838 (GRCm39) |
E55G |
probably benign |
Het |
Npat |
T |
C |
9: 53,474,749 (GRCm39) |
M847T |
probably damaging |
Het |
Nus1 |
G |
A |
10: 52,309,539 (GRCm39) |
V268I |
probably benign |
Het |
Or51r1 |
A |
G |
7: 102,227,801 (GRCm39) |
N33S |
possibly damaging |
Het |
Parn |
C |
T |
16: 13,485,428 (GRCm39) |
D23N |
probably damaging |
Het |
Pdgfa |
T |
C |
5: 138,964,954 (GRCm39) |
E176G |
probably damaging |
Het |
Plcl1 |
T |
A |
1: 55,735,405 (GRCm39) |
F249I |
probably damaging |
Het |
Plscr5 |
C |
T |
9: 92,086,488 (GRCm39) |
Q153* |
probably null |
Het |
Polr2b |
T |
C |
5: 77,468,099 (GRCm39) |
I133T |
probably benign |
Het |
Polr3c |
A |
G |
3: 96,620,930 (GRCm39) |
S463P |
probably damaging |
Het |
Pprc1 |
A |
T |
19: 46,060,171 (GRCm39) |
I1530L |
probably damaging |
Het |
Prex1 |
C |
T |
2: 166,423,904 (GRCm39) |
S996N |
probably damaging |
Het |
Rnf169 |
C |
A |
7: 99,576,330 (GRCm39) |
R291S |
possibly damaging |
Het |
Setd5 |
A |
G |
6: 113,087,480 (GRCm39) |
K127R |
probably damaging |
Het |
Slc25a26 |
G |
T |
6: 94,487,807 (GRCm39) |
V89L |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 61,877,034 (GRCm39) |
T16A |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,747,951 (GRCm39) |
H430Q |
probably damaging |
Het |
Ttll7 |
A |
T |
3: 146,640,290 (GRCm39) |
D503V |
probably damaging |
Het |
Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
Zbtb47 |
T |
C |
9: 121,591,937 (GRCm39) |
S86P |
possibly damaging |
Het |
Zfp345 |
A |
T |
2: 150,314,437 (GRCm39) |
C367S |
probably damaging |
Het |
Zfp964 |
T |
A |
8: 70,116,106 (GRCm39) |
H235Q |
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 |
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 |
|
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'- TCCCAGAATTCTCTAGGGGC -3'
(R):5'- TACTTTGCACAAGGAACCTATGGG -3'
Sequencing Primer
(F):5'- AGAATTCTCTAGGGGCGACGC -3'
(R):5'- GATGCTTCCGGCTCCGC -3'
|
Posted On |
2017-06-26 |