Incidental Mutation 'IGL01990:Actl9'
| ID |
182042 |
| 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 # |
IGL01990
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
33651873-33653242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33653068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 376
(N376S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174088]
|
| AlphaFold |
Q8CG27 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174088
AA Change: N376S
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134564
Gene: ENSMUSG00000092519
AA Change: N376S
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,705,115 (GRCm39) |
D1565G |
probably damaging |
Het |
| Atf5 |
T |
G |
7: 44,462,473 (GRCm39) |
D217A |
probably damaging |
Het |
| Azgp1 |
T |
C |
5: 137,987,997 (GRCm39) |
W260R |
probably damaging |
Het |
| Cnr2 |
C |
T |
4: 135,644,116 (GRCm39) |
R65C |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,226,859 (GRCm39) |
Y203C |
unknown |
Het |
| Colec11 |
A |
G |
12: 28,644,985 (GRCm39) |
Y170H |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,650,867 (GRCm39) |
Q471R |
possibly damaging |
Het |
| Gal3st1 |
G |
T |
11: 3,948,741 (GRCm39) |
W316L |
probably damaging |
Het |
| Igfbp3 |
C |
A |
11: 7,158,504 (GRCm39) |
R253L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,383,178 (GRCm39) |
D168V |
probably benign |
Het |
| Khnyn |
T |
G |
14: 56,125,045 (GRCm39) |
I433S |
possibly damaging |
Het |
| Naaa |
T |
A |
5: 92,415,922 (GRCm39) |
T193S |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,418,416 (GRCm39) |
D49N |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,074,924 (GRCm39) |
|
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,633,107 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,387,438 (GRCm39) |
T1794I |
probably damaging |
Het |
| Prex2 |
A |
C |
1: 11,193,457 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
T |
G |
4: 150,239,141 (GRCm39) |
I122S |
possibly damaging |
Het |
| Slc31a2 |
A |
G |
4: 62,214,207 (GRCm39) |
K53E |
probably benign |
Het |
| Slc35f4 |
C |
T |
14: 49,541,626 (GRCm39) |
|
probably null |
Het |
| Slc38a7 |
C |
T |
8: 96,571,590 (GRCm39) |
W213* |
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,896,188 (GRCm39) |
E589G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,101,707 (GRCm39) |
N5407S |
probably damaging |
Het |
| Tgm2 |
A |
T |
2: 157,966,051 (GRCm39) |
D534E |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,324 (GRCm39) |
Y161C |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,529,355 (GRCm39) |
M249T |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,203 (GRCm39) |
I240V |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,096,666 (GRCm39) |
L49P |
probably damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,311,047 (GRCm39) |
P549H |
probably damaging |
Het |
| Zfp551 |
C |
T |
7: 12,156,343 (GRCm39) |
V25M |
possibly damaging |
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 |
|
IGL02691:Actl9
|
APN |
17 |
33,652,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02930:Actl9
|
APN |
17 |
33,653,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation