Incidental Mutation 'R8954:Actn4'
ID 681828
Institutional Source Beutler Lab
Gene Symbol Actn4
Ensembl Gene ENSMUSG00000054808
Gene Name actinin alpha 4
Synonyms
MMRRC Submission 068790-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.752) question?
Stock # R8954 (G1)
Quality Score 220.009
Status Not validated
Chromosome 7
Chromosomal Location 28592673-28661765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28594583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 815 (D815G)
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

DomainStartEndE-ValueType
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
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 benign
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 benign
Transcript: ENSMUST00000216863
AA Change: D205G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably damaging
Transcript: ENSMUST00000217157
AA Change: D815G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl T A 2: 93,688,299 (GRCm39) Y445F probably benign Het
Adam4 T C 12: 81,467,146 (GRCm39) S492G possibly damaging Het
Anapc2 A G 2: 25,170,490 (GRCm39) K643E probably benign Het
Ankfy1 T A 11: 72,641,317 (GRCm39) I630K possibly damaging Het
Arhgap24 A G 5: 103,040,136 (GRCm39) T361A probably benign Het
Arhgef28 T C 13: 98,066,141 (GRCm39) M1571V probably benign Het
Arid5b A C 10: 67,937,810 (GRCm39) V196G possibly damaging Het
Art2b C A 7: 101,229,110 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,807 (GRCm39) R932H probably damaging Het
B3galnt1 T C 3: 69,482,673 (GRCm39) N196S possibly damaging Het
Brd10 A T 19: 29,696,126 (GRCm39) N1122K possibly damaging Het
C5ar2 C A 7: 15,971,733 (GRCm39) V65F possibly damaging Het
Cfap54 A T 10: 92,879,255 (GRCm39) L403Q probably damaging Het
Cfap74 G A 4: 155,521,187 (GRCm39) E620K Het
Chac1 C T 2: 119,183,836 (GRCm39) A146V probably damaging Het
Cpne2 T A 8: 95,284,774 (GRCm39) S317T probably damaging Het
Cux1 T A 5: 136,402,203 (GRCm39) K138* probably null Het
Cwc22 T A 2: 77,754,937 (GRCm39) Y214F probably damaging Het
Cyp2c39 A T 19: 39,525,197 (GRCm39) T167S probably benign Het
Cyp4a12a T A 4: 115,185,935 (GRCm39) Y414* probably null Het
Dap3 A T 3: 88,835,570 (GRCm39) D256E probably damaging Het
Dmxl2 C T 9: 54,381,156 (GRCm39) S110N probably benign Het
Dnhd1 A T 7: 105,343,986 (GRCm39) I1777L probably benign Het
Ecel1 G A 1: 87,076,349 (GRCm39) Q717* probably null Het
Efcab3 T G 11: 104,909,525 (GRCm39) probably null Het
Eif3j2 G A 18: 43,610,699 (GRCm39) T38M possibly damaging Het
Fat3 T C 9: 16,287,864 (GRCm39) H553R probably benign Het
Fcho2 T C 13: 98,913,985 (GRCm39) D204G probably benign Het
Frmpd1 A T 4: 45,284,702 (GRCm39) E1174D probably benign Het
Gabra6 T A 11: 42,205,959 (GRCm39) Y299F probably damaging Het
Gak G A 5: 108,777,518 (GRCm39) probably benign Het
Gapdhs T A 7: 30,432,591 (GRCm39) H214L probably damaging Het
Gapvd1 T C 2: 34,568,110 (GRCm39) Y1418C probably damaging Het
Gk5 C A 9: 96,059,562 (GRCm39) D471E probably benign Het
Glg1 A G 8: 111,914,527 (GRCm39) M419T probably damaging Het
H2ac25 T A 11: 58,845,785 (GRCm39) N74K possibly damaging Het
Ice1 T C 13: 70,758,697 (GRCm39) N215S probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifitm10 T C 7: 141,882,300 (GRCm39) N157D probably benign Het
Itga11 A G 9: 62,676,545 (GRCm39) D911G possibly damaging Het
Kcnt1 A G 2: 25,784,338 (GRCm39) N247S probably benign Het
Kirrel1 T C 3: 86,997,173 (GRCm39) T265A probably benign Het
Klhl29 A T 12: 5,187,542 (GRCm39) L274H possibly damaging Het
Kmt2b T G 7: 30,273,640 (GRCm39) T2326P probably damaging Het
Lcn11 A G 2: 25,669,265 (GRCm39) S141G probably benign Het
Ldb3 T C 14: 34,277,301 (GRCm39) R358G probably null Het
Ldlr G A 9: 21,650,828 (GRCm39) D446N possibly damaging Het
Lipt2 T C 7: 99,809,449 (GRCm39) F179L probably damaging Het
Lmbrd1 G T 1: 24,745,121 (GRCm39) V154F possibly damaging Het
Malrd1 A G 2: 15,556,178 (GRCm39) I99V Het
Map1b T A 13: 99,570,735 (GRCm39) E662V unknown Het
Mfsd11 T C 11: 116,750,162 (GRCm39) S100P probably damaging Het
Mgst1 C T 6: 138,119,967 (GRCm39) probably benign Het
Mtf1 T A 4: 124,698,649 (GRCm39) V49D probably damaging Het
Mtss1 T C 15: 58,826,986 (GRCm39) D236G probably damaging Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Myh4 T A 11: 67,143,806 (GRCm39) F1089I possibly damaging Het
Nrxn1 A T 17: 90,897,615 (GRCm39) I835K probably damaging Het
Nsd3 T A 8: 26,163,394 (GRCm39) S595T probably damaging Het
Nt5c2 A T 19: 46,877,361 (GRCm39) S527T probably damaging Het
Or52m1 T C 7: 102,289,882 (GRCm39) V143A probably benign Het
Or56b2 T A 7: 104,337,900 (GRCm39) L226* probably null Het
Or5k3 T A 16: 58,969,319 (GRCm39) Y35* probably null Het
Or7e175 A T 9: 20,048,664 (GRCm39) D84V probably damaging Het
Or8k28 C A 2: 86,285,892 (GRCm39) C241F probably damaging Het
Osbpl8 A G 10: 111,108,053 (GRCm39) S350G probably benign Het
Otoa G A 7: 120,744,741 (GRCm39) W833* probably null Het
Pcdhga6 T G 18: 37,841,540 (GRCm39) I420S probably damaging Het
Pmfbp1 A C 8: 110,258,433 (GRCm39) M666L probably benign Het
Pola2 T G 19: 5,998,452 (GRCm39) D370A probably damaging Het
Ppip5k1 C G 2: 121,153,701 (GRCm39) probably benign Het
Ppp1r12b A T 1: 134,762,200 (GRCm39) D815E probably benign Het
Ppp4r3b T A 11: 29,155,669 (GRCm39) V545E possibly damaging Het
Ptpn23 A T 9: 110,221,568 (GRCm39) N177K probably damaging Het
Rad9b A T 5: 122,482,293 (GRCm39) S147R probably benign Het
Rps20 T A 4: 3,834,617 (GRCm39) M82L probably benign Het
Samd9l C T 6: 3,374,577 (GRCm39) V895I probably damaging Het
Sbf2 T A 7: 110,038,118 (GRCm39) K396* probably null Het
Sbno2 G T 10: 79,893,796 (GRCm39) Q1198K probably damaging Het
Scp2d1 C T 2: 144,665,886 (GRCm39) T75I probably damaging Het
Shank3 T A 15: 89,433,431 (GRCm39) I1392N possibly damaging Het
Sidt1 A G 16: 44,082,390 (GRCm39) F532L probably benign Het
Smchd1 A T 17: 71,755,752 (GRCm39) V243D probably damaging Het
Smg1 T C 7: 117,806,215 (GRCm39) R185G probably damaging Het
Spag16 C T 1: 70,036,004 (GRCm39) S344F Het
Spata31f3 G T 4: 42,871,753 (GRCm39) D207E probably damaging Het
Spsb3 A G 17: 25,110,493 (GRCm39) D440G probably damaging Het
Themis A C 10: 28,665,709 (GRCm39) S591R probably benign Het
Trpm1 G A 7: 63,858,089 (GRCm39) V177I probably damaging Het
Usp37 A G 1: 74,514,143 (GRCm39) probably null Het
Vmn1r171 C T 7: 23,332,525 (GRCm39) T238I probably damaging Het
Vmn2r33 T C 7: 7,554,655 (GRCm39) M633V probably benign Het
Vmn2r93 T A 17: 18,546,252 (GRCm39) L708H probably damaging Het
Vps35l A T 7: 118,393,801 (GRCm39) T450S possibly damaging Het
Wdr53 T A 16: 32,075,473 (GRCm39) V226E probably damaging Het
Wdr62 T A 7: 29,953,454 (GRCm39) I193F probably damaging Het
Zfp607b T A 7: 27,403,387 (GRCm39) D614E probably benign 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
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
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'- AGGCAGGCAAGGCTATGTTG -3'
(R):5'- CAGACCGACATTAACTGCTCTTCTC -3'

Sequencing Primer
(F):5'- CAAGGCTATGTTGCACTGGAG -3'
(R):5'- ACCCCTGGCATCCTGTG -3'
Posted On 2021-08-31