Incidental Mutation 'R3962:Actn4'
| ID |
312126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn4
|
| Ensembl Gene |
ENSMUSG00000054808 |
| Gene Name |
actinin alpha 4 |
| Synonyms |
|
| MMRRC Submission |
040837-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.752)
|
| Stock # |
R3962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28592673-28661765 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 28597647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066880]
[ENSMUST00000068045]
[ENSMUST00000127210]
[ENSMUST00000217157]
|
| AlphaFold |
P57780 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066880
|
| SMART Domains |
Protein: ENSMUSP00000069055
Gene: ENSMUSG00000054083
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
27 |
349 |
7.8e-139 |
SMART |
|
calpain_III
|
353 |
529 |
7.47e-72 |
SMART |
|
SCOP:d1alva_
|
552 |
720 |
3e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068045
AA Change: K575N
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066068
Gene: ENSMUSG00000054808
AA Change: K575N
| 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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000129338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208299
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217157
AA Change: K575N
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216863
|
| Meta Mutation Damage Score |
0.3928 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
96% (48/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abca12 |
A |
T |
1: 71,313,674 (GRCm39) |
|
probably null |
Het |
| Ablim2 |
C |
T |
5: 35,969,519 (GRCm39) |
R211C |
probably damaging |
Het |
| B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
| Bod1l |
T |
G |
5: 41,966,064 (GRCm39) |
E2667A |
probably benign |
Het |
| Ccdc13 |
G |
A |
9: 121,628,005 (GRCm39) |
|
probably benign |
Het |
| Ccdc15 |
G |
T |
9: 37,231,782 (GRCm39) |
R181S |
probably damaging |
Het |
| Ccnd1 |
G |
A |
7: 144,487,787 (GRCm39) |
T230M |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
| Fam161a |
T |
C |
11: 22,973,507 (GRCm39) |
M275T |
possibly damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,977,372 (GRCm39) |
T95A |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
| Galk2 |
A |
T |
2: 125,735,293 (GRCm39) |
N107I |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,708,911 (GRCm39) |
|
probably benign |
Het |
| Gm5082 |
T |
C |
13: 41,809,894 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
T |
1: 16,838,868 (GRCm39) |
|
noncoding transcript |
Het |
| Haus6 |
C |
T |
4: 86,530,041 (GRCm39) |
A4T |
possibly damaging |
Het |
| Hmgcs2 |
G |
A |
3: 98,198,354 (GRCm39) |
V86M |
possibly damaging |
Het |
| Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 114,976,054 (GRCm39) |
V1106E |
probably damaging |
Het |
| Itga9 |
G |
A |
9: 118,457,254 (GRCm39) |
D122N |
possibly damaging |
Het |
| Kif21a |
T |
A |
15: 90,869,612 (GRCm39) |
E413V |
probably damaging |
Het |
| Klk1 |
A |
G |
7: 43,878,973 (GRCm39) |
T256A |
possibly damaging |
Het |
| L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
| Larp4 |
C |
A |
15: 99,910,026 (GRCm39) |
Q652K |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Moxd2 |
T |
A |
6: 40,862,331 (GRCm39) |
M163L |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,370,654 (GRCm39) |
R1138H |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,035,808 (GRCm39) |
D28G |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,104,535 (GRCm39) |
I219N |
probably damaging |
Het |
| Platr26 |
A |
T |
2: 71,549,849 (GRCm39) |
|
noncoding transcript |
Het |
| Ptdss1 |
A |
G |
13: 67,142,075 (GRCm39) |
H411R |
probably benign |
Het |
| Ptpra |
A |
G |
2: 30,325,672 (GRCm39) |
T147A |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,092,302 (GRCm39) |
Y307C |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,108,302 (GRCm39) |
V525A |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,533,398 (GRCm39) |
S1007G |
probably damaging |
Het |
| Spmip5 |
A |
G |
19: 58,777,541 (GRCm39) |
Y82H |
probably damaging |
Het |
| Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,953,054 (GRCm39) |
I219M |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,662,068 (GRCm39) |
|
probably null |
Het |
| Tfap2d |
A |
G |
1: 19,189,189 (GRCm39) |
N245S |
probably damaging |
Het |
| Tlr6 |
T |
A |
5: 65,112,328 (GRCm39) |
H193L |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,164,352 (GRCm39) |
V78A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,840,140 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
A |
G |
9: 43,986,954 (GRCm39) |
D84G |
possibly damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,466 (GRCm39) |
N223S |
probably benign |
Het |
| Wnk2 |
C |
A |
13: 49,224,453 (GRCm39) |
R1122L |
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 |
|
|
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 |
|
|
R5201:Actn4
|
UTSW |
7 |
28,615,680 (GRCm39) |
splice 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'- TTGCATGTCAGAGAGCCTGG -3'
(R):5'- GACCAGCTACATTTGGAGTATGC -3'
Sequencing Primer
(F):5'- AGAGCCTGGCCCACCTTC -3'
(R):5'- CCCTTCAACAACTGGATGGAGAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation