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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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