Incidental Mutation 'IGL02118:Actn2'
ID |
280490 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Actn2
|
Ensembl Gene |
ENSMUSG00000052374 |
Gene Name |
actinin alpha 2 |
Synonyms |
1110008F24Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.622)
|
Stock # |
IGL02118
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
12284312-12355613 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 12291433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064204]
[ENSMUST00000168193]
[ENSMUST00000221162]
|
AlphaFold |
Q9JI91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064204
|
SMART Domains |
Protein: ENSMUSP00000067708 Gene: ENSMUSG00000052374
Domain | Start | End | E-Value | Type |
CH
|
40 |
140 |
5.22e-23 |
SMART |
CH
|
153 |
252 |
1.77e-25 |
SMART |
low complexity region
|
255 |
266 |
N/A |
INTRINSIC |
Pfam:Spectrin
|
281 |
391 |
2e-16 |
PFAM |
SPEC
|
404 |
505 |
5.81e-24 |
SMART |
SPEC
|
519 |
626 |
6.75e-11 |
SMART |
SPEC
|
640 |
739 |
1.26e0 |
SMART |
EFh
|
757 |
785 |
8.16e-1 |
SMART |
EFh
|
793 |
821 |
7.7e-3 |
SMART |
efhand_Ca_insen
|
824 |
890 |
3.9e-37 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168193
|
SMART Domains |
Protein: ENSMUSP00000129609 Gene: ENSMUSG00000052374
Domain | Start | End | E-Value | Type |
CH
|
40 |
140 |
5.22e-23 |
SMART |
CH
|
153 |
252 |
1.77e-25 |
SMART |
low complexity region
|
255 |
266 |
N/A |
INTRINSIC |
Pfam:Spectrin
|
281 |
391 |
7e-18 |
PFAM |
SPEC
|
404 |
505 |
5.81e-24 |
SMART |
SPEC
|
519 |
626 |
6.75e-11 |
SMART |
SPEC
|
640 |
739 |
1.26e0 |
SMART |
EFh
|
757 |
785 |
8.16e-1 |
SMART |
EFh
|
793 |
821 |
7.7e-3 |
SMART |
efhand_Ca_insen
|
824 |
890 |
3.9e-37 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222034
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
T |
C |
5: 35,758,865 (GRCm39) |
Y359H |
possibly damaging |
Het |
Actr8 |
T |
C |
14: 29,704,728 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
Aldob |
T |
A |
4: 49,538,790 (GRCm39) |
K243* |
probably null |
Het |
Arfgap1 |
T |
C |
2: 180,622,237 (GRCm39) |
F274S |
possibly damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cask |
T |
C |
X: 13,425,634 (GRCm39) |
I471V |
probably damaging |
Het |
Cdc42ep4 |
C |
T |
11: 113,619,942 (GRCm39) |
G150S |
probably benign |
Het |
Cpne1 |
T |
G |
2: 155,919,563 (GRCm39) |
D278A |
possibly damaging |
Het |
Gcn1 |
A |
G |
5: 115,748,938 (GRCm39) |
E1856G |
probably damaging |
Het |
Gm8362 |
A |
T |
14: 18,149,595 (GRCm39) |
V159E |
probably damaging |
Het |
Golga5 |
A |
G |
12: 102,462,011 (GRCm39) |
I700V |
possibly damaging |
Het |
Ifi206 |
T |
C |
1: 173,309,334 (GRCm39) |
T221A |
probably benign |
Het |
Ighv2-6-8 |
T |
C |
12: 113,760,037 (GRCm39) |
K24R |
possibly damaging |
Het |
Morc1 |
T |
C |
16: 48,407,467 (GRCm39) |
L661P |
probably benign |
Het |
Per2 |
G |
A |
1: 91,352,031 (GRCm39) |
T825I |
probably damaging |
Het |
Plscr1l1 |
A |
T |
9: 92,233,011 (GRCm39) |
K45* |
probably null |
Het |
Pramel20 |
A |
T |
4: 143,297,726 (GRCm39) |
T49S |
probably benign |
Het |
Prkar2b |
A |
G |
12: 32,025,963 (GRCm39) |
V19A |
probably damaging |
Het |
Psmb8 |
T |
A |
17: 34,420,198 (GRCm39) |
D263E |
probably damaging |
Het |
Pum2 |
T |
C |
12: 8,779,117 (GRCm39) |
I563T |
probably benign |
Het |
Retreg1 |
T |
G |
15: 25,966,709 (GRCm39) |
|
probably null |
Het |
Rfx7 |
A |
G |
9: 72,524,486 (GRCm39) |
T559A |
probably benign |
Het |
Rnf31 |
T |
G |
14: 55,836,569 (GRCm39) |
I801S |
probably damaging |
Het |
Rom1 |
G |
T |
19: 8,906,386 (GRCm39) |
T51N |
possibly damaging |
Het |
Sema6b |
G |
T |
17: 56,439,821 (GRCm39) |
P7T |
probably benign |
Het |
Stpg1 |
A |
G |
4: 135,235,375 (GRCm39) |
|
probably benign |
Het |
Sugct |
A |
T |
13: 17,627,105 (GRCm39) |
Y249* |
probably null |
Het |
Tbc1d21 |
C |
T |
9: 58,267,746 (GRCm39) |
V317M |
probably benign |
Het |
Tcea2 |
A |
G |
2: 181,327,628 (GRCm39) |
I125V |
probably benign |
Het |
Ttc39b |
T |
A |
4: 83,216,186 (GRCm39) |
D19V |
probably damaging |
Het |
Tti2 |
T |
A |
8: 31,645,537 (GRCm39) |
|
probably null |
Het |
Usp32 |
A |
T |
11: 84,923,003 (GRCm39) |
Y142* |
probably null |
Het |
Vill |
A |
G |
9: 118,889,466 (GRCm39) |
Y134C |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Zfp398 |
A |
G |
6: 47,835,879 (GRCm39) |
D14G |
probably damaging |
Het |
Zfp598 |
T |
C |
17: 24,896,591 (GRCm39) |
Y223H |
probably damaging |
Het |
Znhit6 |
G |
T |
3: 145,283,859 (GRCm39) |
C43F |
probably damaging |
Het |
|
Other mutations in Actn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01469:Actn2
|
APN |
13 |
12,325,796 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01909:Actn2
|
APN |
13 |
12,324,479 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01994:Actn2
|
APN |
13 |
12,305,563 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02480:Actn2
|
APN |
13 |
12,291,364 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02827:Actn2
|
APN |
13 |
12,290,085 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03110:Actn2
|
APN |
13 |
12,324,493 (GRCm39) |
missense |
probably benign |
0.02 |
R0044:Actn2
|
UTSW |
13 |
12,290,013 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0512:Actn2
|
UTSW |
13 |
12,292,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R1623:Actn2
|
UTSW |
13 |
12,355,320 (GRCm39) |
missense |
probably benign |
|
R1983:Actn2
|
UTSW |
13 |
12,293,696 (GRCm39) |
missense |
probably benign |
0.00 |
R1989:Actn2
|
UTSW |
13 |
12,355,276 (GRCm39) |
missense |
probably benign |
0.38 |
R2148:Actn2
|
UTSW |
13 |
12,315,835 (GRCm39) |
missense |
probably damaging |
0.99 |
R2196:Actn2
|
UTSW |
13 |
12,290,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R2254:Actn2
|
UTSW |
13 |
12,311,365 (GRCm39) |
missense |
probably benign |
0.20 |
R2850:Actn2
|
UTSW |
13 |
12,290,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R4391:Actn2
|
UTSW |
13 |
12,305,634 (GRCm39) |
missense |
probably damaging |
0.99 |
R4396:Actn2
|
UTSW |
13 |
12,325,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R4758:Actn2
|
UTSW |
13 |
12,303,472 (GRCm39) |
nonsense |
probably null |
|
R5068:Actn2
|
UTSW |
13 |
12,303,408 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5069:Actn2
|
UTSW |
13 |
12,303,408 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5070:Actn2
|
UTSW |
13 |
12,303,408 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5228:Actn2
|
UTSW |
13 |
12,303,545 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5382:Actn2
|
UTSW |
13 |
12,323,837 (GRCm39) |
missense |
probably benign |
0.37 |
R5408:Actn2
|
UTSW |
13 |
12,285,681 (GRCm39) |
missense |
probably benign |
0.41 |
R5975:Actn2
|
UTSW |
13 |
12,355,378 (GRCm39) |
missense |
probably benign |
0.43 |
R6189:Actn2
|
UTSW |
13 |
12,291,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R6226:Actn2
|
UTSW |
13 |
12,293,853 (GRCm39) |
missense |
probably benign |
|
R6498:Actn2
|
UTSW |
13 |
12,291,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R7094:Actn2
|
UTSW |
13 |
12,324,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R7164:Actn2
|
UTSW |
13 |
12,293,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R7218:Actn2
|
UTSW |
13 |
12,293,799 (GRCm39) |
missense |
probably benign |
0.33 |
R7260:Actn2
|
UTSW |
13 |
12,291,376 (GRCm39) |
missense |
probably benign |
0.00 |
R7768:Actn2
|
UTSW |
13 |
12,297,480 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7896:Actn2
|
UTSW |
13 |
12,309,203 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8141:Actn2
|
UTSW |
13 |
12,303,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R8702:Actn2
|
UTSW |
13 |
12,297,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R8785:Actn2
|
UTSW |
13 |
12,292,317 (GRCm39) |
missense |
probably benign |
0.02 |
R9028:Actn2
|
UTSW |
13 |
12,315,864 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9099:Actn2
|
UTSW |
13 |
12,303,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R9517:Actn2
|
UTSW |
13 |
12,295,317 (GRCm39) |
missense |
probably damaging |
0.97 |
X0018:Actn2
|
UTSW |
13 |
12,284,531 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Actn2
|
UTSW |
13 |
12,303,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |