Incidental Mutation 'IGL01637:Actn4'
ID 93065
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: 0.778) question?
Stock # IGL01637
Quality Score
Status
Chromosome 7
Chromosomal Location 28893248-28962340 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28904684 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 384 (I384N)
Ref Sequence ENSEMBL: ENSMUSP00000151028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068045] [ENSMUST00000127210] [ENSMUST00000140622] [ENSMUST00000217157]
AlphaFold P57780
Predicted Effect probably damaging
Transcript: ENSMUST00000068045
AA Change: I384N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066068
Gene: ENSMUSG00000054808
AA Change: I384N

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 damaging
Transcript: ENSMUST00000127210
AA Change: I384N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115436
Gene: ENSMUSG00000054808
AA Change: I384N

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 benign
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 noncoding transcript
Transcript: ENSMUST00000144909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150493
Predicted Effect probably damaging
Transcript: ENSMUST00000217157
AA Change: I384N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adsl G T 15: 80,948,700 (GRCm38) Q51H probably null Het
Apcdd1 A G 18: 62,937,286 (GRCm38) E208G probably damaging Het
Arrdc4 G A 7: 68,744,832 (GRCm38) R155* probably null Het
Atp9b T C 18: 80,756,455 (GRCm38) E823G probably benign Het
Bmp1 A G 14: 70,492,461 (GRCm38) W468R probably damaging Het
C6 A G 15: 4,759,917 (GRCm38) I281M possibly damaging Het
Ccdc88b T C 19: 6,846,710 (GRCm38) T1392A probably benign Het
Dhx34 G T 7: 16,205,473 (GRCm38) S665Y probably damaging Het
Dock1 A T 7: 135,137,813 (GRCm38) probably null Het
Dpp7 T C 2: 25,354,613 (GRCm38) N252S probably benign Het
Dyrk2 A G 10: 118,860,507 (GRCm38) V282A probably damaging Het
Edrf1 T C 7: 133,650,525 (GRCm38) L401P probably damaging Het
Epc1 A G 18: 6,439,724 (GRCm38) V150A probably benign Het
Fam170a A T 18: 50,281,667 (GRCm38) M127L possibly damaging Het
Fam19a3 C T 3: 104,773,079 (GRCm38) V75M probably damaging Het
Gabrg1 T A 5: 70,777,205 (GRCm38) T277S probably damaging Het
Galntl5 T C 5: 25,189,825 (GRCm38) probably benign Het
Gbp2b A G 3: 142,598,312 (GRCm38) N56S probably damaging Het
Gfm2 T A 13: 97,150,409 (GRCm38) V172E probably damaging Het
Gm10419 T C 5: 108,372,358 (GRCm38) probably benign Het
Gm7293 A G 9: 51,623,606 (GRCm38) noncoding transcript Het
Gstm3 T C 3: 107,967,633 (GRCm38) E101G probably damaging Het
Ifnlr1 T C 4: 135,686,545 (GRCm38) W2R possibly damaging Het
Ighv13-1 A T 12: 114,267,733 (GRCm38) probably benign Het
Ighv7-1 T A 12: 113,896,503 (GRCm38) I90F possibly damaging Het
Itga2b A G 11: 102,455,583 (GRCm38) L1009P probably damaging Het
Kif1a A G 1: 93,039,853 (GRCm38) V1112A possibly damaging Het
Kif5a A T 10: 127,245,368 (GRCm38) D232E possibly damaging Het
Klb G A 5: 65,375,679 (GRCm38) probably null Het
Lrriq1 G A 10: 103,215,628 (GRCm38) A421V probably benign Het
Mdga1 G A 17: 29,839,871 (GRCm38) R721C probably damaging Het
Mrpl48 G T 7: 100,550,532 (GRCm38) probably benign Het
Myo18b T A 5: 112,840,629 (GRCm38) R1030S possibly damaging Het
Nf1 T A 11: 79,547,120 (GRCm38) H2101Q probably damaging Het
Nlrp3 C A 11: 59,549,378 (GRCm38) L594I probably damaging Het
Notch2 C T 3: 98,146,060 (GRCm38) T2013I probably damaging Het
Olfr1018 A T 2: 85,822,988 (GRCm38) T6S probably benign Het
Olfr131 G A 17: 38,082,103 (GRCm38) L292F possibly damaging Het
Olfr593 C A 7: 103,212,177 (GRCm38) R95S probably benign Het
Olfr812 A G 10: 129,842,610 (GRCm38) L144P probably benign Het
Olfr845 T C 9: 19,338,964 (GRCm38) F168S probably damaging Het
Panx3 T C 9: 37,664,056 (GRCm38) D170G probably damaging Het
Pclo A G 5: 14,540,034 (GRCm38) S783G unknown Het
Pde3b T A 7: 114,526,901 (GRCm38) L790* probably null Het
Pik3r2 T C 8: 70,772,348 (GRCm38) probably benign Het
Rassf4 A G 6: 116,641,690 (GRCm38) F211L probably damaging Het
Rbl2 C T 8: 91,106,438 (GRCm38) P666S probably benign Het
Rnf123 A G 9: 108,058,238 (GRCm38) F979L probably damaging Het
Rock2 T A 12: 16,965,171 (GRCm38) D788E probably benign Het
Serpina3b A G 12: 104,132,957 (GRCm38) T244A probably benign Het
Setd1b T C 5: 123,148,513 (GRCm38) S541P unknown Het
Slc12a4 T C 8: 105,960,707 (GRCm38) D60G possibly damaging Het
Stac2 T C 11: 98,041,354 (GRCm38) E241G probably benign Het
Tas2r115 A G 6: 132,737,629 (GRCm38) Y120H probably damaging Het
Tmtc2 A T 10: 105,370,085 (GRCm38) F450I probably benign Het
Txnl1 A T 18: 63,674,191 (GRCm38) I198N probably damaging Het
Ubr2 A T 17: 46,956,654 (GRCm38) M1049K probably damaging Het
Ugt2b5 T C 5: 87,139,900 (GRCm38) E136G probably benign Het
Unc13b C T 4: 43,241,066 (GRCm38) T3623I probably damaging Het
Usp13 T A 3: 32,919,064 (GRCm38) S797T probably benign Het
Vmn1r173 A T 7: 23,702,948 (GRCm38) T203S probably damaging Het
Vwf T A 6: 125,645,736 (GRCm38) I1718N probably damaging Het
Zfr A G 15: 12,159,646 (GRCm38) H676R probably benign Het
Other mutations in Actn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Actn4 APN 7 28,897,880 (GRCm38) missense probably benign
IGL02192:Actn4 APN 7 28,898,400 (GRCm38) missense possibly damaging 0.93
IGL02862:Actn4 APN 7 28,912,234 (GRCm38) splice site probably benign
IGL03339:Actn4 APN 7 28,901,982 (GRCm38) missense probably damaging 1.00
R0067:Actn4 UTSW 7 28,911,570 (GRCm38) missense possibly damaging 0.67
R0067:Actn4 UTSW 7 28,911,570 (GRCm38) missense possibly damaging 0.67
R0243:Actn4 UTSW 7 28,905,398 (GRCm38) missense probably benign 0.29
R0689:Actn4 UTSW 7 28,897,049 (GRCm38) missense probably damaging 1.00
R0845:Actn4 UTSW 7 28,913,430 (GRCm38) missense probably damaging 1.00
R1469:Actn4 UTSW 7 28,905,328 (GRCm38) missense probably benign 0.15
R1469:Actn4 UTSW 7 28,905,328 (GRCm38) missense probably benign 0.15
R1469:Actn4 UTSW 7 28,898,266 (GRCm38) splice site probably benign
R1581:Actn4 UTSW 7 28,898,646 (GRCm38) missense probably benign 0.04
R1690:Actn4 UTSW 7 28,911,525 (GRCm38) missense probably damaging 1.00
R1962:Actn4 UTSW 7 28,894,622 (GRCm38) missense probably damaging 1.00
R2113:Actn4 UTSW 7 28,898,124 (GRCm38) missense probably benign 0.42
R2215:Actn4 UTSW 7 28,918,753 (GRCm38) missense possibly damaging 0.88
R2429:Actn4 UTSW 7 28,898,071 (GRCm38) missense probably benign 0.00
R3945:Actn4 UTSW 7 28,912,236 (GRCm38) splice site probably null
R3962:Actn4 UTSW 7 28,898,222 (GRCm38) splice site probably null
R3970:Actn4 UTSW 7 28,962,032 (GRCm38) missense probably benign
R4909:Actn4 UTSW 7 28,898,657 (GRCm38) missense probably damaging 1.00
R4985:Actn4 UTSW 7 28,918,986 (GRCm38) missense probably damaging 1.00
R5155:Actn4 UTSW 7 28,962,017 (GRCm38) critical splice donor site probably null
R5201:Actn4 UTSW 7 28,916,255 (GRCm38) splice site probably null
R5668:Actn4 UTSW 7 28,904,550 (GRCm38) missense probably damaging 1.00
R5818:Actn4 UTSW 7 28,919,019 (GRCm38) missense probably damaging 1.00
R6046:Actn4 UTSW 7 28,904,619 (GRCm38) missense probably benign 0.03
R6155:Actn4 UTSW 7 28,896,141 (GRCm38) missense probably damaging 1.00
R6559:Actn4 UTSW 7 28,907,036 (GRCm38) missense possibly damaging 0.87
R7224:Actn4 UTSW 7 28,962,084 (GRCm38) missense probably benign 0.08
R7225:Actn4 UTSW 7 28,898,699 (GRCm38) missense probably damaging 1.00
R7423:Actn4 UTSW 7 28,894,255 (GRCm38) missense probably damaging 0.97
R7665:Actn4 UTSW 7 28,916,207 (GRCm38) missense probably damaging 1.00
R7704:Actn4 UTSW 7 28,897,042 (GRCm38) missense possibly damaging 0.76
R8096:Actn4 UTSW 7 28,901,913 (GRCm38) missense probably damaging 1.00
R8096:Actn4 UTSW 7 28,894,583 (GRCm38) missense possibly damaging 0.88
R8954:Actn4 UTSW 7 28,895,158 (GRCm38) missense probably damaging 0.96
R8987:Actn4 UTSW 7 28,896,973 (GRCm38) missense probably benign 0.00
R9128:Actn4 UTSW 7 28,894,504 (GRCm38) missense possibly damaging 0.90
R9507:Actn4 UTSW 7 28,906,972 (GRCm38) missense probably benign 0.00
R9574:Actn4 UTSW 7 28,895,439 (GRCm38) missense probably benign 0.03
R9746:Actn4 UTSW 7 28,919,006 (GRCm38) missense probably benign
Z1088:Actn4 UTSW 7 28,894,578 (GRCm38) missense probably damaging 1.00
Z1177:Actn4 UTSW 7 28,919,049 (GRCm38) missense probably damaging 1.00
Posted On 2013-12-09