Incidental Mutation 'IGL01090:Actn1'
| ID |
52442 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actn1
|
| Ensembl Gene |
ENSMUSG00000015143 |
| Gene Name |
actinin, alpha 1 |
| Synonyms |
3110023F10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
IGL01090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
80214321-80307145 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 80245846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021554]
[ENSMUST00000021554]
[ENSMUST00000167327]
|
| AlphaFold |
Q7TPR4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021554
|
| SMART Domains |
Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
33 |
133 |
4.24e-23 |
SMART |
|
CH
|
146 |
245 |
5.06e-21 |
SMART |
|
Pfam:Spectrin
|
274 |
384 |
5.9e-17 |
PFAM |
|
SPEC
|
397 |
498 |
1.69e-25 |
SMART |
|
SPEC
|
512 |
619 |
1.47e-2 |
SMART |
|
Pfam:Spectrin
|
630 |
733 |
4.7e-14 |
PFAM |
|
EFh
|
750 |
778 |
1.73e-5 |
SMART |
|
EFh
|
791 |
819 |
8.13e-2 |
SMART |
|
efhand_Ca_insen
|
822 |
888 |
5.22e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021554
|
| SMART Domains |
Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
33 |
133 |
4.24e-23 |
SMART |
|
CH
|
146 |
245 |
5.06e-21 |
SMART |
|
Pfam:Spectrin
|
274 |
384 |
5.9e-17 |
PFAM |
|
SPEC
|
397 |
498 |
1.69e-25 |
SMART |
|
SPEC
|
512 |
619 |
1.47e-2 |
SMART |
|
Pfam:Spectrin
|
630 |
733 |
4.7e-14 |
PFAM |
|
EFh
|
750 |
778 |
1.73e-5 |
SMART |
|
EFh
|
791 |
819 |
8.13e-2 |
SMART |
|
efhand_Ca_insen
|
822 |
888 |
5.22e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167327
|
| SMART Domains |
Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
33 |
133 |
4.24e-23 |
SMART |
|
CH
|
146 |
245 |
5.06e-21 |
SMART |
|
Pfam:Spectrin
|
274 |
384 |
1.7e-17 |
PFAM |
|
SPEC
|
397 |
498 |
1.69e-25 |
SMART |
|
SPEC
|
512 |
619 |
1.47e-2 |
SMART |
|
Pfam:Spectrin
|
630 |
733 |
8.4e-14 |
PFAM |
|
EFh
|
750 |
778 |
1.36e0 |
SMART |
|
EFh
|
786 |
814 |
8.13e-2 |
SMART |
|
efhand_Ca_insen
|
817 |
883 |
5.22e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218874
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220351
|
| 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 nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
C |
6: 91,896,099 (GRCm39) |
S316P |
possibly damaging |
Het |
| Agbl3 |
T |
C |
6: 34,776,822 (GRCm39) |
Y443H |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,316,279 (GRCm39) |
D578E |
probably benign |
Het |
| Aldoa |
A |
T |
7: 126,395,207 (GRCm39) |
H292Q |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,254,775 (GRCm39) |
K194R |
possibly damaging |
Het |
| Bivm |
C |
A |
1: 44,168,451 (GRCm39) |
H244N |
probably damaging |
Het |
| Cabp5 |
G |
A |
7: 13,139,412 (GRCm39) |
E146K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cfap251 |
A |
C |
5: 123,418,052 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,297,035 (GRCm39) |
V129A |
probably benign |
Het |
| Clec4g |
A |
G |
8: 3,769,482 (GRCm39) |
S54P |
probably damaging |
Het |
| Crim1 |
G |
T |
17: 78,654,658 (GRCm39) |
V645L |
probably damaging |
Het |
| Csta1 |
T |
C |
16: 35,945,421 (GRCm39) |
T31A |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,544,610 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
G |
T |
7: 15,950,181 (GRCm39) |
P329Q |
probably damaging |
Het |
| Dusp16 |
T |
C |
6: 134,702,912 (GRCm39) |
N193S |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,236,696 (GRCm39) |
|
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,870,728 (GRCm39) |
Y449C |
probably damaging |
Het |
| Fmo4 |
C |
A |
1: 162,637,354 (GRCm39) |
|
probably null |
Het |
| Foxi3 |
C |
A |
6: 70,937,729 (GRCm39) |
N320K |
probably damaging |
Het |
| Gm9964 |
A |
G |
11: 79,187,210 (GRCm39) |
L79P |
unknown |
Het |
| Gpr161 |
T |
C |
1: 165,134,149 (GRCm39) |
I137T |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,376,457 (GRCm39) |
Q3426* |
probably null |
Het |
| Hps5 |
C |
T |
7: 46,437,751 (GRCm39) |
R108H |
probably benign |
Het |
| Itch |
T |
A |
2: 155,048,256 (GRCm39) |
V540E |
probably damaging |
Het |
| L3mbtl1 |
C |
A |
2: 162,807,925 (GRCm39) |
P520H |
probably damaging |
Het |
| Mvp |
A |
G |
7: 126,588,859 (GRCm39) |
V636A |
probably benign |
Het |
| Odf4 |
A |
G |
11: 68,812,778 (GRCm39) |
|
probably benign |
Het |
| Or7g18 |
A |
G |
9: 18,787,538 (GRCm39) |
K305R |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,142,816 (GRCm39) |
S675P |
probably benign |
Het |
| Plod3 |
A |
G |
5: 137,019,090 (GRCm39) |
D325G |
probably benign |
Het |
| Prss12 |
T |
C |
3: 123,276,388 (GRCm39) |
V339A |
possibly damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,689,180 (GRCm39) |
L991Q |
probably null |
Het |
| Ptpn3 |
T |
A |
4: 57,240,833 (GRCm39) |
I261F |
probably damaging |
Het |
| Rab3gap1 |
T |
C |
1: 127,858,124 (GRCm39) |
|
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,130,847 (GRCm39) |
R373G |
possibly damaging |
Het |
| Rmi1 |
T |
C |
13: 58,557,208 (GRCm39) |
S486P |
probably damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,354,233 (GRCm39) |
I139T |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,467,059 (GRCm39) |
S4017T |
probably benign |
Het |
| Tcaf1 |
C |
A |
6: 42,663,556 (GRCm39) |
C108F |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,918,317 (GRCm39) |
Q1198R |
probably damaging |
Het |
| Tnni3k |
G |
T |
3: 154,645,320 (GRCm39) |
Q522K |
possibly damaging |
Het |
| Trio |
T |
A |
15: 27,773,093 (GRCm39) |
E713V |
probably damaging |
Het |
| Ugt2b34 |
C |
A |
5: 87,041,679 (GRCm39) |
V338F |
probably damaging |
Het |
| Usp40 |
T |
A |
1: 87,890,187 (GRCm39) |
M892L |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,636,225 (GRCm39) |
|
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,835 (GRCm39) |
E275G |
possibly damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,333,247 (GRCm39) |
M1T |
probably null |
Het |
| Wdr83os |
A |
T |
8: 85,808,476 (GRCm39) |
D76V |
probably damaging |
Het |
|
| Other mutations in Actn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01152:Actn1
|
APN |
12 |
80,245,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Actn1
|
APN |
12 |
80,240,446 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01890:Actn1
|
APN |
12 |
80,231,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01937:Actn1
|
APN |
12 |
80,218,537 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02142:Actn1
|
APN |
12 |
80,222,929 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02191:Actn1
|
APN |
12 |
80,220,883 (GRCm39) |
missense |
probably benign |
|
|
IGL02217:Actn1
|
APN |
12 |
80,220,868 (GRCm39) |
nonsense |
probably null |
|
|
IGL02230:Actn1
|
APN |
12 |
80,218,604 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03163:Actn1
|
APN |
12 |
80,228,191 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03401:Actn1
|
APN |
12 |
80,215,741 (GRCm39) |
nonsense |
probably null |
|
|
R0538:Actn1
|
UTSW |
12 |
80,306,874 (GRCm39) |
unclassified |
probably benign |
|
|
R0546:Actn1
|
UTSW |
12 |
80,225,208 (GRCm39) |
missense |
probably benign |
|
|
R0583:Actn1
|
UTSW |
12 |
80,245,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Actn1
|
UTSW |
12 |
80,221,421 (GRCm39) |
splice site |
probably benign |
|
|
R1340:Actn1
|
UTSW |
12 |
80,219,918 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1519:Actn1
|
UTSW |
12 |
80,251,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Actn1
|
UTSW |
12 |
80,219,731 (GRCm39) |
splice site |
probably benign |
|
|
R1619:Actn1
|
UTSW |
12 |
80,219,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Actn1
|
UTSW |
12 |
80,306,806 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1994:Actn1
|
UTSW |
12 |
80,251,745 (GRCm39) |
nonsense |
probably null |
|
|
R2102:Actn1
|
UTSW |
12 |
80,230,291 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2157:Actn1
|
UTSW |
12 |
80,219,891 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2191:Actn1
|
UTSW |
12 |
80,218,576 (GRCm39) |
nonsense |
probably null |
|
|
R2519:Actn1
|
UTSW |
12 |
80,239,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2988:Actn1
|
UTSW |
12 |
80,239,162 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4024:Actn1
|
UTSW |
12 |
80,215,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Actn1
|
UTSW |
12 |
80,218,573 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4907:Actn1
|
UTSW |
12 |
80,228,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4936:Actn1
|
UTSW |
12 |
80,219,772 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4966:Actn1
|
UTSW |
12 |
80,219,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4972:Actn1
|
UTSW |
12 |
80,219,813 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5395:Actn1
|
UTSW |
12 |
80,217,477 (GRCm39) |
missense |
probably benign |
|
|
R5460:Actn1
|
UTSW |
12 |
80,230,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5467:Actn1
|
UTSW |
12 |
80,222,991 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5470:Actn1
|
UTSW |
12 |
80,215,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5661:Actn1
|
UTSW |
12 |
80,231,618 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5985:Actn1
|
UTSW |
12 |
80,215,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6020:Actn1
|
UTSW |
12 |
80,221,229 (GRCm39) |
splice site |
probably null |
|
|
R6042:Actn1
|
UTSW |
12 |
80,224,023 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6389:Actn1
|
UTSW |
12 |
80,221,296 (GRCm39) |
missense |
probably benign |
|
|
R6499:Actn1
|
UTSW |
12 |
80,215,191 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6709:Actn1
|
UTSW |
12 |
80,240,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7016:Actn1
|
UTSW |
12 |
80,219,742 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7116:Actn1
|
UTSW |
12 |
80,251,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Actn1
|
UTSW |
12 |
80,224,033 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7183:Actn1
|
UTSW |
12 |
80,215,706 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7291:Actn1
|
UTSW |
12 |
80,220,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7361:Actn1
|
UTSW |
12 |
80,240,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7452:Actn1
|
UTSW |
12 |
80,230,376 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7698:Actn1
|
UTSW |
12 |
80,221,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7701:Actn1
|
UTSW |
12 |
80,221,328 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8000:Actn1
|
UTSW |
12 |
80,245,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Actn1
|
UTSW |
12 |
80,243,167 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8287:Actn1
|
UTSW |
12 |
80,220,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8469:Actn1
|
UTSW |
12 |
80,240,457 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8794:Actn1
|
UTSW |
12 |
80,245,754 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8887:Actn1
|
UTSW |
12 |
80,215,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Actn1
|
UTSW |
12 |
80,240,470 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9269:Actn1
|
UTSW |
12 |
80,219,745 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9520:Actn1
|
UTSW |
12 |
80,240,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Actn1
|
UTSW |
12 |
80,230,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation