Incidental Mutation 'IGL02127:Actn4'
| ID |
280924 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actn4
|
| Ensembl Gene |
ENSMUSG00000054808 |
| Gene Name |
actinin alpha 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.752)
|
| Stock # |
IGL02127
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28592673-28661765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28597305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 661
(M661K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151028
(fasta)
|
| 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 |
probably benign
Transcript: ENSMUST00000068045
AA Change: M661K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066068
Gene: ENSMUSG00000054808
AA Change: M661K
| 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: ENSMUST00000208299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207765
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216863
AA Change: M76K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217157
AA Change: M661K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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, 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpin |
G |
A |
7: 79,577,941 (GRCm39) |
R163W |
probably benign |
Het |
| Atm |
C |
A |
9: 53,399,283 (GRCm39) |
D1573Y |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,847,695 (GRCm39) |
N540S |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,733,017 (GRCm39) |
Q282R |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,785,832 (GRCm39) |
|
probably benign |
Het |
| Cd300ld4 |
T |
C |
11: 114,913,545 (GRCm39) |
N170S |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,633,135 (GRCm39) |
N72I |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,946,878 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
T |
4: 63,143,379 (GRCm39) |
T356S |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2c69 |
G |
T |
19: 39,839,501 (GRCm39) |
T374N |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,675,307 (GRCm39) |
E349G |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,026,885 (GRCm39) |
E713G |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,179,035 (GRCm39) |
T903S |
probably benign |
Het |
| Enthd1 |
T |
C |
15: 80,336,943 (GRCm39) |
D497G |
probably damaging |
Het |
| Grk4 |
C |
T |
5: 34,867,530 (GRCm39) |
T165I |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,598,358 (GRCm39) |
S1648L |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,971,320 (GRCm39) |
Y278C |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,382,090 (GRCm39) |
L480P |
probably damaging |
Het |
| Kif5c |
G |
A |
2: 49,591,122 (GRCm39) |
|
probably null |
Het |
| Kifbp |
C |
T |
10: 62,414,128 (GRCm39) |
R10H |
probably benign |
Het |
| Klhl35 |
T |
C |
7: 99,120,888 (GRCm39) |
|
probably benign |
Het |
| Lemd3 |
A |
T |
10: 120,761,933 (GRCm39) |
D807E |
possibly damaging |
Het |
| Lrrc37a |
G |
A |
11: 103,395,365 (GRCm39) |
T20I |
probably benign |
Het |
| Mab21l1 |
C |
T |
3: 55,691,016 (GRCm39) |
A201V |
probably benign |
Het |
| Mab21l2 |
T |
C |
3: 86,454,124 (GRCm39) |
D292G |
possibly damaging |
Het |
| Map3k21 |
T |
C |
8: 126,668,886 (GRCm39) |
L824P |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,120,263 (GRCm39) |
V1687A |
probably benign |
Het |
| Myo5c |
G |
T |
9: 75,208,184 (GRCm39) |
W1639C |
probably damaging |
Het |
| Nfya |
G |
T |
17: 48,700,283 (GRCm39) |
|
probably benign |
Het |
| Or4a76 |
A |
G |
2: 89,461,098 (GRCm39) |
I48T |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,820,870 (GRCm39) |
|
probably benign |
Het |
| Pcdh8 |
G |
A |
14: 80,006,686 (GRCm39) |
R626C |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,815,159 (GRCm39) |
|
probably benign |
Het |
| Pogz |
T |
C |
3: 94,782,014 (GRCm39) |
|
probably benign |
Het |
| Polg |
G |
A |
7: 79,107,915 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,377,479 (GRCm39) |
V401A |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,325,170 (GRCm39) |
I1317K |
probably damaging |
Het |
| St7 |
T |
A |
6: 17,844,968 (GRCm39) |
|
probably benign |
Het |
| Tdo2 |
C |
T |
3: 81,866,232 (GRCm39) |
V344M |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,424,100 (GRCm39) |
V400A |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,753,243 (GRCm39) |
N1856S |
probably benign |
Het |
| Ube3a |
G |
A |
7: 58,925,789 (GRCm39) |
G210D |
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 103,778,689 (GRCm39) |
V45A |
probably damaging |
Het |
| Wdpcp |
T |
A |
11: 21,661,958 (GRCm39) |
M410K |
possibly damaging |
Het |
| Xpa |
G |
A |
4: 46,185,606 (GRCm39) |
T124M |
probably damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,446,367 (GRCm39) |
E172G |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation