Incidental Mutation 'R8096:Actn4'
| ID |
630195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn4
|
| Ensembl Gene |
ENSMUSG00000054808 |
| Gene Name |
actinin alpha 4 |
| Synonyms |
|
| MMRRC Submission |
067528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.752)
|
| Stock # |
R8096 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28592673-28661765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 28601338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 470
(R470L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068045]
[ENSMUST00000127210]
[ENSMUST00000217157]
|
| AlphaFold |
P57780 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068045
AA Change: R470L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066068
Gene: ENSMUSG00000054808
AA Change: R470L
| 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 damaging
Transcript: ENSMUST00000127210
AA Change: R470L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115436
Gene: ENSMUSG00000054808
AA Change: R470L
| 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 benign
Transcript: ENSMUST00000216863
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217157
AA Change: R470L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
98% (44/45) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
A |
14: 54,882,726 (GRCm39) |
A999V |
possibly damaging |
Het |
| Adgre4 |
T |
A |
17: 56,127,700 (GRCm39) |
I580N |
probably damaging |
Het |
| Arid5b |
T |
A |
10: 68,021,982 (GRCm39) |
T203S |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,436,890 (GRCm39) |
Y824C |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,825,657 (GRCm39) |
V506A |
possibly damaging |
Het |
| Cdk17 |
T |
G |
10: 93,052,229 (GRCm39) |
M103R |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,455,446 (GRCm39) |
E449V |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,007,160 (GRCm39) |
Y834H |
possibly damaging |
Het |
| Dynlrb2 |
A |
G |
8: 117,234,256 (GRCm39) |
T7A |
possibly damaging |
Het |
| Ggcx |
G |
A |
6: 72,406,976 (GRCm39) |
R704Q |
probably benign |
Het |
| Gpr87 |
A |
T |
3: 59,087,229 (GRCm39) |
L92Q |
possibly damaging |
Het |
| Grik1 |
C |
T |
16: 87,803,355 (GRCm39) |
G279E |
|
Het |
| Igsf10 |
G |
T |
3: 59,236,380 (GRCm39) |
T1267N |
probably damaging |
Het |
| Mrc2 |
G |
T |
11: 105,234,333 (GRCm39) |
R951L |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,575,764 (GRCm39) |
S1755T |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,403,292 (GRCm39) |
V751A |
unknown |
Het |
| Or10a3 |
A |
T |
7: 108,480,248 (GRCm39) |
C188* |
probably null |
Het |
| Or1l4 |
T |
A |
2: 37,092,078 (GRCm39) |
V275E |
probably damaging |
Het |
| Or8u9 |
T |
A |
2: 86,002,056 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,762,975 (GRCm39) |
Y531C |
|
Het |
| Pigr |
A |
G |
1: 130,774,247 (GRCm39) |
E409G |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rsph14 |
T |
A |
10: 74,795,493 (GRCm39) |
I231F |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,708,626 (GRCm39) |
S4812P |
unknown |
Het |
| Scgb2b24 |
T |
A |
7: 33,438,646 (GRCm39) |
|
probably null |
Het |
| Scn2a |
T |
A |
2: 65,594,366 (GRCm39) |
H1738Q |
probably damaging |
Het |
| Scrib |
A |
T |
15: 75,934,558 (GRCm39) |
D678E |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,590,417 (GRCm39) |
F370S |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,255,279 (GRCm39) |
D823E |
probably damaging |
Het |
| Srrm3 |
T |
A |
5: 135,898,094 (GRCm39) |
I555N |
unknown |
Het |
| Stx19 |
A |
C |
16: 62,642,524 (GRCm39) |
E113D |
possibly damaging |
Het |
| Tex30 |
A |
T |
1: 44,127,663 (GRCm39) |
Y91N |
probably damaging |
Het |
| Tnfsf13 |
A |
G |
11: 69,575,983 (GRCm39) |
C35R |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,715,927 (GRCm39) |
M1180I |
possibly damaging |
Het |
| Tnn |
C |
T |
1: 159,950,411 (GRCm39) |
A732T |
probably damaging |
Het |
| Tpra1 |
C |
T |
6: 88,888,699 (GRCm39) |
Q294* |
probably null |
Het |
| Trim24 |
G |
T |
6: 37,935,592 (GRCm39) |
S895I |
probably benign |
Het |
| Trim68 |
A |
G |
7: 102,327,649 (GRCm39) |
S435P |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
| Zfp280d |
T |
C |
9: 72,226,560 (GRCm39) |
C335R |
probably damaging |
Het |
| Zfp958 |
G |
T |
8: 4,663,273 (GRCm39) |
|
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 |
|
|
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 |
28,594,008 (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'- TGTGCTGGAGAACCTAGGTC -3'
(R):5'- CATCCTCTGCGGTAACAAATG -3'
Sequencing Primer
(F):5'- TGGAGAACCTAGGTCCCTTCTG -3'
(R):5'- GCGGTAACAAATGTCCATTCTGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation