Incidental Mutation 'R5201:Actn4'
ID |
400793 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actn4
|
Ensembl Gene |
ENSMUSG00000054808 |
Gene Name |
actinin alpha 4 |
Synonyms |
|
MMRRC Submission |
042776-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.778)
|
Stock # |
R5201 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
28592673-28661765 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 28615680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068045]
[ENSMUST00000068045]
[ENSMUST00000068045]
[ENSMUST00000068045]
[ENSMUST00000127210]
[ENSMUST00000127210]
[ENSMUST00000127210]
[ENSMUST00000127210]
[ENSMUST00000140622]
[ENSMUST00000140622]
[ENSMUST00000140622]
[ENSMUST00000140622]
[ENSMUST00000148196]
[ENSMUST00000148196]
[ENSMUST00000148196]
[ENSMUST00000148196]
[ENSMUST00000217157]
[ENSMUST00000217157]
[ENSMUST00000217157]
[ENSMUST00000217157]
|
AlphaFold |
P57780 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068045
|
SMART Domains |
Protein: ENSMUSP00000066068 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
CH
|
53 |
153 |
1.08e-24 |
SMART |
CH
|
166 |
265 |
3.49e-24 |
SMART |
SPEC
|
297 |
403 |
2.83e0 |
SMART |
SPEC
|
417 |
518 |
3.78e-23 |
SMART |
SPEC
|
532 |
639 |
8.64e-9 |
SMART |
SPEC
|
653 |
752 |
3.56e0 |
SMART |
EFh
|
770 |
798 |
1.92e-3 |
SMART |
EFh
|
811 |
839 |
1.56e-3 |
SMART |
efhand_Ca_insen
|
842 |
908 |
1.27e-36 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000068045
|
SMART Domains |
Protein: ENSMUSP00000066068 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
CH
|
53 |
153 |
1.08e-24 |
SMART |
CH
|
166 |
265 |
3.49e-24 |
SMART |
SPEC
|
297 |
403 |
2.83e0 |
SMART |
SPEC
|
417 |
518 |
3.78e-23 |
SMART |
SPEC
|
532 |
639 |
8.64e-9 |
SMART |
SPEC
|
653 |
752 |
3.56e0 |
SMART |
EFh
|
770 |
798 |
1.92e-3 |
SMART |
EFh
|
811 |
839 |
1.56e-3 |
SMART |
efhand_Ca_insen
|
842 |
908 |
1.27e-36 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000068045
|
SMART Domains |
Protein: ENSMUSP00000066068 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
CH
|
53 |
153 |
1.08e-24 |
SMART |
CH
|
166 |
265 |
3.49e-24 |
SMART |
SPEC
|
297 |
403 |
2.83e0 |
SMART |
SPEC
|
417 |
518 |
3.78e-23 |
SMART |
SPEC
|
532 |
639 |
8.64e-9 |
SMART |
SPEC
|
653 |
752 |
3.56e0 |
SMART |
EFh
|
770 |
798 |
1.92e-3 |
SMART |
EFh
|
811 |
839 |
1.56e-3 |
SMART |
efhand_Ca_insen
|
842 |
908 |
1.27e-36 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000068045
|
SMART Domains |
Protein: ENSMUSP00000066068 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
CH
|
53 |
153 |
1.08e-24 |
SMART |
CH
|
166 |
265 |
3.49e-24 |
SMART |
SPEC
|
297 |
403 |
2.83e0 |
SMART |
SPEC
|
417 |
518 |
3.78e-23 |
SMART |
SPEC
|
532 |
639 |
8.64e-9 |
SMART |
SPEC
|
653 |
752 |
3.56e0 |
SMART |
EFh
|
770 |
798 |
1.92e-3 |
SMART |
EFh
|
811 |
839 |
1.56e-3 |
SMART |
efhand_Ca_insen
|
842 |
908 |
1.27e-36 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000127210
|
SMART Domains |
Protein: ENSMUSP00000115436 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
CH
|
53 |
153 |
1.08e-24 |
SMART |
CH
|
166 |
265 |
1.03e-21 |
SMART |
SPEC
|
297 |
403 |
2.83e0 |
SMART |
SPEC
|
417 |
518 |
3.78e-23 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000127210
|
SMART Domains |
Protein: ENSMUSP00000115436 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
CH
|
53 |
153 |
1.08e-24 |
SMART |
CH
|
166 |
265 |
1.03e-21 |
SMART |
SPEC
|
297 |
403 |
2.83e0 |
SMART |
SPEC
|
417 |
518 |
3.78e-23 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000127210
|
SMART Domains |
Protein: ENSMUSP00000115436 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
CH
|
53 |
153 |
1.08e-24 |
SMART |
CH
|
166 |
265 |
1.03e-21 |
SMART |
SPEC
|
297 |
403 |
2.83e0 |
SMART |
SPEC
|
417 |
518 |
3.78e-23 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000127210
|
SMART Domains |
Protein: ENSMUSP00000115436 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
CH
|
53 |
153 |
1.08e-24 |
SMART |
CH
|
166 |
265 |
1.03e-21 |
SMART |
SPEC
|
297 |
403 |
2.83e0 |
SMART |
SPEC
|
417 |
518 |
3.78e-23 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000140622
|
SMART Domains |
Protein: ENSMUSP00000123210 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
CH
|
3 |
68 |
1.09e-1 |
SMART |
CH
|
81 |
180 |
3.49e-24 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000140622
|
SMART Domains |
Protein: ENSMUSP00000123210 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
CH
|
3 |
68 |
1.09e-1 |
SMART |
CH
|
81 |
180 |
3.49e-24 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000140622
|
SMART Domains |
Protein: ENSMUSP00000123210 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
CH
|
3 |
68 |
1.09e-1 |
SMART |
CH
|
81 |
180 |
3.49e-24 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000140622
|
SMART Domains |
Protein: ENSMUSP00000123210 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
CH
|
3 |
68 |
1.09e-1 |
SMART |
CH
|
81 |
180 |
3.49e-24 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000148196
|
SMART Domains |
Protein: ENSMUSP00000122268 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
CH
|
3 |
68 |
1.09e-1 |
SMART |
Pfam:CH
|
82 |
133 |
4.5e-11 |
PFAM |
Pfam:CAMSAP_CH
|
89 |
133 |
9.1e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000148196
|
SMART Domains |
Protein: ENSMUSP00000122268 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
CH
|
3 |
68 |
1.09e-1 |
SMART |
Pfam:CH
|
82 |
133 |
4.5e-11 |
PFAM |
Pfam:CAMSAP_CH
|
89 |
133 |
9.1e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000148196
|
SMART Domains |
Protein: ENSMUSP00000122268 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
CH
|
3 |
68 |
1.09e-1 |
SMART |
Pfam:CH
|
82 |
133 |
4.5e-11 |
PFAM |
Pfam:CAMSAP_CH
|
89 |
133 |
9.1e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000148196
|
SMART Domains |
Protein: ENSMUSP00000122268 Gene: ENSMUSG00000054808
Domain | Start | End | E-Value | Type |
CH
|
3 |
68 |
1.09e-1 |
SMART |
Pfam:CH
|
82 |
133 |
4.5e-11 |
PFAM |
Pfam:CAMSAP_CH
|
89 |
133 |
9.1e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208229
|
Predicted Effect |
probably null
Transcript: ENSMUST00000217157
|
Predicted Effect |
probably null
Transcript: ENSMUST00000217157
|
Predicted Effect |
probably null
Transcript: ENSMUST00000217157
|
Predicted Effect |
probably null
Transcript: ENSMUST00000217157
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
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, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a disruption in this gene die either around birth or within a few months of birth. Those who do survive after birth show poor growth and kidney abnormalities including glomerulosclerosis. This is manifested functionally as proteinuria and abnormal blood urea nitrogen. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
C |
A |
15: 81,946,745 (GRCm39) |
T214N |
probably benign |
Het |
Arap2 |
T |
C |
5: 62,840,832 (GRCm39) |
E678G |
probably damaging |
Het |
Atl2 |
T |
C |
17: 80,172,580 (GRCm39) |
N130S |
probably benign |
Het |
Cby2 |
A |
G |
14: 75,821,449 (GRCm39) |
V101A |
probably damaging |
Het |
Cyp2b10 |
A |
G |
7: 25,616,419 (GRCm39) |
D342G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,172,715 (GRCm39) |
Y248H |
possibly damaging |
Het |
Drd5 |
A |
T |
5: 38,477,366 (GRCm39) |
M120L |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,158,403 (GRCm39) |
R629G |
probably benign |
Het |
Dyrk1b |
A |
G |
7: 27,884,521 (GRCm39) |
Y279C |
probably damaging |
Het |
Efemp1 |
A |
T |
11: 28,864,590 (GRCm39) |
I215L |
probably benign |
Het |
Enpp6 |
C |
A |
8: 47,518,486 (GRCm39) |
Q205K |
probably damaging |
Het |
Fam170a |
A |
T |
18: 50,415,193 (GRCm39) |
T280S |
probably benign |
Het |
Fam222a |
G |
A |
5: 114,749,127 (GRCm39) |
A108T |
possibly damaging |
Het |
Fgd3 |
G |
T |
13: 49,449,854 (GRCm39) |
P132T |
probably benign |
Het |
Fzr1 |
A |
T |
10: 81,203,362 (GRCm39) |
L399H |
probably damaging |
Het |
Galnt15 |
G |
A |
14: 31,771,822 (GRCm39) |
R289Q |
probably damaging |
Het |
Hira |
T |
C |
16: 18,770,865 (GRCm39) |
V834A |
probably damaging |
Het |
Ilf3 |
T |
C |
9: 21,300,679 (GRCm39) |
L93P |
probably damaging |
Het |
Itgae |
G |
A |
11: 73,001,382 (GRCm39) |
R71Q |
probably benign |
Het |
Itprid1 |
T |
C |
6: 55,944,991 (GRCm39) |
S571P |
probably benign |
Het |
Kif14 |
T |
A |
1: 136,431,145 (GRCm39) |
S1181T |
probably benign |
Het |
Lrig3 |
C |
A |
10: 125,849,020 (GRCm39) |
P946Q |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,369,738 (GRCm39) |
C1674* |
probably null |
Het |
Malt1 |
A |
G |
18: 65,609,126 (GRCm39) |
K710R |
probably benign |
Het |
Man1a2 |
A |
T |
3: 100,524,328 (GRCm39) |
N373K |
probably benign |
Het |
Mpped2 |
A |
G |
2: 106,529,847 (GRCm39) |
N32S |
possibly damaging |
Het |
Mrtfb |
A |
C |
16: 13,219,456 (GRCm39) |
T701P |
probably benign |
Het |
Myh10 |
A |
T |
11: 68,674,021 (GRCm39) |
T652S |
probably damaging |
Het |
Nfia |
A |
G |
4: 97,999,462 (GRCm39) |
Y485C |
probably damaging |
Het |
Olfml2b |
A |
T |
1: 170,496,433 (GRCm39) |
T355S |
probably benign |
Het |
Or10q3 |
A |
T |
19: 11,847,995 (GRCm39) |
I195K |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdh1 |
A |
T |
18: 38,331,971 (GRCm39) |
V344D |
probably damaging |
Het |
Plekhn1 |
C |
A |
4: 156,314,984 (GRCm39) |
V558L |
probably benign |
Het |
Prr14l |
A |
G |
5: 32,987,591 (GRCm39) |
S635P |
possibly damaging |
Het |
Prss46 |
T |
A |
9: 110,680,543 (GRCm39) |
C229* |
probably null |
Het |
Rad50 |
A |
G |
11: 53,589,647 (GRCm39) |
|
probably null |
Het |
Slc27a3 |
A |
T |
3: 90,296,526 (GRCm39) |
L191Q |
probably benign |
Het |
Surf4 |
A |
G |
2: 26,823,778 (GRCm39) |
|
probably benign |
Het |
Taf3 |
A |
G |
2: 9,956,995 (GRCm39) |
S391P |
probably damaging |
Het |
Tep1 |
A |
C |
14: 51,105,567 (GRCm39) |
L151R |
probably benign |
Het |
Tmprss11d |
A |
C |
5: 86,457,214 (GRCm39) |
N148K |
possibly damaging |
Het |
Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,460,846 (GRCm39) |
D724G |
probably damaging |
Het |
Wdr75 |
T |
A |
1: 45,862,519 (GRCm39) |
D779E |
probably benign |
Het |
Zfp943 |
A |
T |
17: 22,211,794 (GRCm39) |
K293N |
probably damaging |
Het |
|
Other mutations in Actn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01637:Actn4
|
APN |
7 |
28,604,109 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02127:Actn4
|
APN |
7 |
28,597,305 (GRCm39) |
missense |
probably benign |
|
IGL02192:Actn4
|
APN |
7 |
28,597,825 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02862:Actn4
|
APN |
7 |
28,611,659 (GRCm39) |
splice site |
probably benign |
|
IGL03339:Actn4
|
APN |
7 |
28,601,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R0067:Actn4
|
UTSW |
7 |
28,610,995 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0067:Actn4
|
UTSW |
7 |
28,610,995 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0243:Actn4
|
UTSW |
7 |
28,604,823 (GRCm39) |
missense |
probably benign |
0.29 |
R0689:Actn4
|
UTSW |
7 |
28,596,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R0845:Actn4
|
UTSW |
7 |
28,612,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Actn4
|
UTSW |
7 |
28,604,753 (GRCm39) |
missense |
probably benign |
0.15 |
R1469:Actn4
|
UTSW |
7 |
28,604,753 (GRCm39) |
missense |
probably benign |
0.15 |
R1469:Actn4
|
UTSW |
7 |
28,597,691 (GRCm39) |
splice site |
probably benign |
|
R1581:Actn4
|
UTSW |
7 |
28,598,071 (GRCm39) |
missense |
probably benign |
0.04 |
R1690:Actn4
|
UTSW |
7 |
28,610,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Actn4
|
UTSW |
7 |
28,594,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R2113:Actn4
|
UTSW |
7 |
28,597,549 (GRCm39) |
missense |
probably benign |
0.42 |
R2215:Actn4
|
UTSW |
7 |
28,618,178 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2429:Actn4
|
UTSW |
7 |
28,597,496 (GRCm39) |
missense |
probably benign |
0.00 |
R3945:Actn4
|
UTSW |
7 |
28,611,661 (GRCm39) |
splice site |
probably null |
|
R3962:Actn4
|
UTSW |
7 |
28,597,647 (GRCm39) |
splice site |
probably null |
|
R3970:Actn4
|
UTSW |
7 |
28,661,457 (GRCm39) |
missense |
probably benign |
|
R4909:Actn4
|
UTSW |
7 |
28,598,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R4985:Actn4
|
UTSW |
7 |
28,618,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R5155:Actn4
|
UTSW |
7 |
28,661,442 (GRCm39) |
critical splice donor site |
probably null |
|
R5668:Actn4
|
UTSW |
7 |
28,603,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R5818:Actn4
|
UTSW |
7 |
28,618,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R6046:Actn4
|
UTSW |
7 |
28,604,044 (GRCm39) |
missense |
probably benign |
0.03 |
R6155:Actn4
|
UTSW |
7 |
28,595,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R6559:Actn4
|
UTSW |
7 |
28,606,461 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7224:Actn4
|
UTSW |
7 |
28,661,509 (GRCm39) |
missense |
probably benign |
0.08 |
R7225:Actn4
|
UTSW |
7 |
28,598,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R7423:Actn4
|
UTSW |
7 |
28,593,680 (GRCm39) |
missense |
probably damaging |
0.97 |
R7665:Actn4
|
UTSW |
7 |
28,615,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R7704:Actn4
|
UTSW |
7 |
28,596,467 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8096:Actn4
|
UTSW |
7 |
28,601,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R8096:Actn4
|
UTSW |
7 |
28,594,008 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8954:Actn4
|
UTSW |
7 |
28,594,583 (GRCm39) |
missense |
probably damaging |
0.96 |
R8987:Actn4
|
UTSW |
7 |
28,596,398 (GRCm39) |
missense |
probably benign |
0.00 |
R9128:Actn4
|
UTSW |
7 |
28,593,929 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9507:Actn4
|
UTSW |
7 |
28,606,397 (GRCm39) |
missense |
probably benign |
0.00 |
R9574:Actn4
|
UTSW |
7 |
28,594,864 (GRCm39) |
missense |
probably benign |
0.03 |
R9746:Actn4
|
UTSW |
7 |
28,618,431 (GRCm39) |
missense |
probably benign |
|
Z1088:Actn4
|
UTSW |
7 |
28,594,003 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Actn4
|
UTSW |
7 |
28,618,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGGTGTATGAAATAGAGGCC -3'
(R):5'- CTGGCCAATGCAGAAAAGGC -3'
Sequencing Primer
(F):5'- TAGAGGCCACAGAGCACTGC -3'
(R):5'- CCAATGCAGAAAAGGCCTTTGTG -3'
|
Posted On |
2016-07-06 |