Incidental Mutation 'R1581:Actn4'
| ID |
171398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn4
|
| Ensembl Gene |
ENSMUSG00000054808 |
| Gene Name |
actinin alpha 4 |
| Synonyms |
|
| MMRRC Submission |
039618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.752)
|
| Stock # |
R1581 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28592673-28661765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28598071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 510
(T510A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068045]
[ENSMUST00000127210]
[ENSMUST00000217157]
|
| AlphaFold |
P57780 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068045
AA Change: T510A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000066068
Gene: ENSMUSG00000054808
AA Change: T510A
| 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
AA Change: T510A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000115436
Gene: ENSMUSG00000054808
AA Change: T510A
| 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 |
probably benign
Transcript: ENSMUST00000217157
AA Change: T510A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216863
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.6%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
C |
15: 91,063,347 (GRCm39) |
E447G |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,133,153 (GRCm39) |
M1311T |
possibly damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bicdl1 |
G |
T |
5: 115,789,326 (GRCm39) |
|
probably benign |
Het |
| Bmyc |
T |
C |
2: 25,597,346 (GRCm39) |
S137P |
probably damaging |
Het |
| Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,713,644 (GRCm39) |
T292I |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cibar1 |
T |
A |
4: 12,155,745 (GRCm39) |
|
probably null |
Het |
| Cnnm2 |
A |
G |
19: 46,751,562 (GRCm39) |
T451A |
probably damaging |
Het |
| Eed |
T |
C |
7: 89,629,676 (GRCm39) |
K20E |
possibly damaging |
Het |
| Eps15 |
T |
A |
4: 109,220,383 (GRCm39) |
M180K |
probably benign |
Het |
| Esr1 |
T |
C |
10: 4,947,905 (GRCm39) |
I486T |
probably damaging |
Het |
| Etnppl |
A |
G |
3: 130,422,393 (GRCm39) |
I207V |
possibly damaging |
Het |
| Fancg |
G |
A |
4: 43,007,039 (GRCm39) |
P246L |
probably damaging |
Het |
| Fcrl1 |
G |
A |
3: 87,293,030 (GRCm39) |
C249Y |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,839,961 (GRCm39) |
F110L |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,816,626 (GRCm39) |
N4120Y |
probably damaging |
Het |
| Gm4884 |
C |
T |
7: 40,693,255 (GRCm39) |
S408L |
probably benign |
Het |
| Gm9476 |
T |
C |
10: 100,142,474 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
T |
C |
11: 57,127,836 (GRCm39) |
|
probably null |
Het |
| H6pd |
T |
A |
4: 150,066,971 (GRCm39) |
I472F |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,137,092 (GRCm39) |
M632L |
probably benign |
Het |
| Hyou1 |
C |
T |
9: 44,300,167 (GRCm39) |
P819S |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,618,075 (GRCm39) |
E163G |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,722,278 (GRCm39) |
V27A |
possibly damaging |
Het |
| Kdelr3 |
T |
C |
15: 79,407,114 (GRCm39) |
|
probably null |
Het |
| Klk1b22 |
A |
G |
7: 43,765,399 (GRCm39) |
N117S |
possibly damaging |
Het |
| Klrh1 |
T |
C |
6: 129,752,796 (GRCm39) |
D3G |
probably benign |
Het |
| Lpp |
C |
A |
16: 24,500,591 (GRCm39) |
C134* |
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,347,843 (GRCm39) |
R2951* |
probably null |
Het |
| Luzp2 |
T |
A |
7: 54,899,238 (GRCm39) |
D285E |
possibly damaging |
Het |
| Ly75 |
C |
T |
2: 60,158,237 (GRCm39) |
R1016H |
probably damaging |
Het |
| Mesp2 |
T |
A |
7: 79,462,289 (GRCm39) |
S282T |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,659,289 (GRCm39) |
D776G |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,443,964 (GRCm39) |
T253A |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,347 (GRCm39) |
L29H |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,463,147 (GRCm39) |
Y146C |
probably damaging |
Het |
| Pank4 |
C |
T |
4: 155,059,108 (GRCm39) |
R414W |
probably damaging |
Het |
| Pclo |
T |
G |
5: 14,571,296 (GRCm39) |
I227S |
probably benign |
Het |
| Plppr4 |
A |
G |
3: 117,121,915 (GRCm39) |
V221A |
possibly damaging |
Het |
| Pradc1 |
G |
A |
6: 85,425,568 (GRCm39) |
R25C |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rnd2 |
A |
G |
11: 101,362,022 (GRCm39) |
T192A |
probably benign |
Het |
| Rtbdn |
A |
G |
8: 85,681,695 (GRCm39) |
E131G |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,809,449 (GRCm39) |
V792A |
probably benign |
Het |
| Sacs |
G |
T |
14: 61,451,128 (GRCm39) |
Q4391H |
probably damaging |
Het |
| Scd2 |
A |
G |
19: 44,286,538 (GRCm39) |
S123G |
probably benign |
Het |
| Septin9 |
A |
G |
11: 117,181,421 (GRCm39) |
R74G |
probably damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,356 (GRCm39) |
Q327L |
probably damaging |
Het |
| Skor1 |
T |
C |
9: 63,053,505 (GRCm39) |
T127A |
probably damaging |
Het |
| Sphk2 |
A |
G |
7: 45,362,920 (GRCm39) |
V57A |
probably damaging |
Het |
| Tfec |
A |
T |
6: 16,844,243 (GRCm39) |
D101E |
probably damaging |
Het |
| Tmem43 |
T |
A |
6: 91,455,717 (GRCm39) |
H109Q |
probably benign |
Het |
| Tmem67 |
C |
A |
4: 12,047,814 (GRCm39) |
S839I |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,074 (GRCm39) |
Y672C |
probably damaging |
Het |
| Ttc39d |
A |
C |
17: 80,523,913 (GRCm39) |
S191R |
probably benign |
Het |
| Ttll1 |
C |
T |
15: 83,380,478 (GRCm39) |
V296M |
probably damaging |
Het |
| Upp2 |
A |
C |
2: 58,664,177 (GRCm39) |
K130T |
possibly damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,640 (GRCm39) |
C780R |
probably damaging |
Het |
| Wars1 |
C |
A |
12: 108,841,635 (GRCm39) |
E171* |
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,887,012 (GRCm39) |
S637T |
probably damaging |
Het |
| Zfp27 |
T |
A |
7: 29,595,549 (GRCm39) |
T139S |
possibly damaging |
Het |
| Zfp941 |
A |
T |
7: 140,392,033 (GRCm39) |
L442Q |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCGCTTGGCATACTCCAAATGTAG -3'
(R):5'- ATCACTGAGGCAGACGCTGACATC -3'
Sequencing Primer
(F):5'- ACTCCAAATGTAGCTGGTCGATG -3'
(R):5'- TGTGCTTAGCCAACACAGTAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation