Incidental Mutation 'IGL02930:Actl9'
| ID |
364064 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actl9
|
| Ensembl Gene |
ENSMUSG00000092519 |
| Gene Name |
actin-like 9 |
| Synonyms |
1700029I08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
33651873-33653242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33653073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 378
(S378P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174088]
|
| AlphaFold |
Q8CG27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174088
AA Change: S378P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134564
Gene: ENSMUSG00000092519
AA Change: S378P
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
48 |
415 |
6.36e-112 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,328,226 (GRCm39) |
N3433S |
possibly damaging |
Het |
| Aldh6a1 |
C |
A |
12: 84,480,756 (GRCm39) |
L426F |
possibly damaging |
Het |
| Ankef1 |
T |
C |
2: 136,392,245 (GRCm39) |
I478T |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,127,745 (GRCm39) |
D132G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,879,643 (GRCm39) |
E475G |
probably damaging |
Het |
| Cmtm2b |
A |
C |
8: 105,056,402 (GRCm39) |
M104L |
probably benign |
Het |
| Cops2 |
T |
C |
2: 125,674,109 (GRCm39) |
|
probably benign |
Het |
| Dnajc4 |
C |
A |
19: 6,966,801 (GRCm39) |
V176F |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,394,536 (GRCm39) |
N267D |
probably damaging |
Het |
| Elobl |
T |
G |
11: 88,856,012 (GRCm39) |
D17A |
possibly damaging |
Het |
| Erich6 |
G |
A |
3: 58,529,775 (GRCm39) |
|
probably benign |
Het |
| Flna |
G |
A |
X: 73,267,506 (GRCm39) |
R2548C |
probably damaging |
Het |
| Gm6878 |
T |
G |
14: 67,548,439 (GRCm39) |
|
probably benign |
Het |
| Gpc1 |
G |
T |
1: 92,785,021 (GRCm39) |
E355* |
probably null |
Het |
| Islr |
C |
T |
9: 58,065,483 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
A |
T |
3: 88,443,532 (GRCm39) |
I203L |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,621 (GRCm39) |
I52N |
probably damaging |
Het |
| Or6c88 |
T |
C |
10: 129,407,184 (GRCm39) |
I220T |
probably damaging |
Het |
| Or8g24 |
G |
T |
9: 38,989,308 (GRCm39) |
H244Q |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,215,394 (GRCm39) |
S195G |
probably benign |
Het |
| Pyroxd1 |
A |
T |
6: 142,304,778 (GRCm39) |
D335V |
probably damaging |
Het |
| Rps6kl1 |
T |
C |
12: 85,196,548 (GRCm39) |
T39A |
probably benign |
Het |
| Rusc2 |
G |
A |
4: 43,416,376 (GRCm39) |
A561T |
probably damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,280,559 (GRCm39) |
V937G |
possibly damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,367,161 (GRCm39) |
T382A |
possibly damaging |
Het |
| Tbx21 |
A |
G |
11: 96,990,865 (GRCm39) |
I271T |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,083,060 (GRCm39) |
V632A |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,301,981 (GRCm39) |
N67S |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,300,944 (GRCm39) |
R95* |
probably null |
Het |
| Trim24 |
A |
G |
6: 37,928,380 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,196,537 (GRCm39) |
D1253E |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,579 (GRCm39) |
K210R |
probably benign |
Het |
|
| Other mutations in Actl9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01307:Actl9
|
APN |
17 |
33,653,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01990:Actl9
|
APN |
17 |
33,653,068 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02691:Actl9
|
APN |
17 |
33,652,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
nerva
|
UTSW |
17 |
33,652,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4486001:Actl9
|
UTSW |
17 |
33,653,172 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0523:Actl9
|
UTSW |
17 |
33,652,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Actl9
|
UTSW |
17 |
33,652,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1545:Actl9
|
UTSW |
17 |
33,652,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Actl9
|
UTSW |
17 |
33,652,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3958:Actl9
|
UTSW |
17 |
33,652,738 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4701:Actl9
|
UTSW |
17 |
33,652,909 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4943:Actl9
|
UTSW |
17 |
33,652,059 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4971:Actl9
|
UTSW |
17 |
33,652,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Actl9
|
UTSW |
17 |
33,653,062 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5236:Actl9
|
UTSW |
17 |
33,653,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5782:Actl9
|
UTSW |
17 |
33,652,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6127:Actl9
|
UTSW |
17 |
33,652,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6808:Actl9
|
UTSW |
17 |
33,652,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Actl9
|
UTSW |
17 |
33,652,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Actl9
|
UTSW |
17 |
33,652,014 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7663:Actl9
|
UTSW |
17 |
33,652,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7905:Actl9
|
UTSW |
17 |
33,652,801 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9140:Actl9
|
UTSW |
17 |
33,652,170 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9224:Actl9
|
UTSW |
17 |
33,653,004 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0062:Actl9
|
UTSW |
17 |
33,652,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Actl9
|
UTSW |
17 |
33,652,075 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Actl9
|
UTSW |
17 |
33,652,087 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-12-18 |
Incidental Mutation