Incidental Mutation 'R7225:Actn4'
ID 562091
Institutional Source Beutler Lab
Gene Symbol Actn4
Ensembl Gene ENSMUSG00000054808
Gene Name actinin alpha 4
Synonyms
MMRRC Submission 045297-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.752) question?
Stock # R7225 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 28592673-28661765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28598124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 492 (V492D)
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: V492D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066068
Gene: ENSMUSG00000054808
AA Change: V492D

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: V492D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115436
Gene: ENSMUSG00000054808
AA Change: V492D

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
Predicted Effect probably damaging
Transcript: ENSMUST00000217157
AA Change: V492D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik T C 12: 110,637,299 (GRCm39) probably benign Het
5730480H06Rik T A 5: 48,537,575 (GRCm39) probably null Het
Alpk2 T C 18: 65,438,270 (GRCm39) E1041G probably benign Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Cd22 C T 7: 30,577,059 (GRCm39) A83T not run Het
Cdan1 T C 2: 120,555,393 (GRCm39) T783A probably benign Het
Cdh9 C T 15: 16,856,159 (GRCm39) S733F probably damaging Het
Cfap54 A G 10: 92,740,236 (GRCm39) F2282S unknown Het
Chst9 T C 18: 15,585,718 (GRCm39) K282E probably damaging Het
Clcn1 G A 6: 42,270,396 (GRCm39) D232N probably damaging Het
Clpb T A 7: 101,360,672 (GRCm39) L234Q probably damaging Het
Cluh T G 11: 74,557,232 (GRCm39) probably null Het
Cnp C T 11: 100,471,413 (GRCm39) Q352* probably null Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Dtx3 C T 10: 127,027,358 (GRCm39) C272Y probably damaging Het
Dync2h1 A G 9: 7,142,756 (GRCm39) I1156T probably benign Het
Epg5 T A 18: 78,055,917 (GRCm39) V1697E probably benign Het
Exoc3l4 A G 12: 111,390,058 (GRCm39) D211G probably benign Het
Fank1 A G 7: 133,454,988 (GRCm39) K36R probably benign Het
Fat4 T C 3: 39,034,325 (GRCm39) I2659T possibly damaging Het
Fer1l5 T C 1: 36,460,033 (GRCm39) W1893R possibly damaging Het
Gorasp2 T A 2: 70,514,391 (GRCm39) L256Q probably damaging Het
Gpc5 T G 14: 115,789,710 (GRCm39) V528G probably damaging Het
Gria2 T A 3: 80,709,938 (GRCm39) probably benign Het
Htatip2 A G 7: 49,420,604 (GRCm39) E150G possibly damaging Het
Jak3 C A 8: 72,138,155 (GRCm39) Q869K probably benign Het
Jmjd1c T C 10: 67,061,844 (GRCm39) V1218A probably benign Het
Kcnf1 A G 12: 17,225,694 (GRCm39) C176R possibly damaging Het
Kcnq4 A G 4: 120,604,111 (GRCm39) V88A probably benign Het
Lmod3 T A 6: 97,224,345 (GRCm39) D492V probably benign Het
Lurap1l A C 4: 80,829,718 (GRCm39) S43R probably benign Het
Mamdc4 T C 2: 25,455,558 (GRCm39) H890R possibly damaging Het
Mertk T G 2: 128,643,482 (GRCm39) N960K possibly damaging Het
Nudt9 C A 5: 104,212,966 (GRCm39) D346E probably benign Het
Obi1 T C 14: 104,717,294 (GRCm39) T360A probably benign Het
Opa1 A G 16: 29,432,857 (GRCm39) probably null Het
Or5an1 A T 19: 12,260,831 (GRCm39) T140S probably benign Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Paxbp1 T C 16: 90,823,956 (GRCm39) E564G probably damaging Het
Pcdhb13 C T 18: 37,577,490 (GRCm39) R623C possibly damaging Het
Pkhd1l1 G T 15: 44,410,337 (GRCm39) V2615F probably damaging Het
Plin3 T C 17: 56,593,541 (GRCm39) T58A possibly damaging Het
Por A G 5: 135,761,441 (GRCm39) D309G probably benign Het
Ppp2r5e T C 12: 75,515,353 (GRCm39) K261R probably damaging Het
Ptpn18 C T 1: 34,511,927 (GRCm39) T366I possibly damaging Het
Ptprz1 G A 6: 23,000,928 (GRCm39) G1006E possibly damaging Het
Rpl12 C T 2: 32,851,909 (GRCm39) probably benign Het
Rpsa T G 9: 119,960,222 (GRCm39) F262V probably benign Het
Sh3pxd2a G T 19: 47,255,828 (GRCm39) N991K probably damaging Het
Shank2 T A 7: 143,838,762 (GRCm39) N19K probably benign Het
Sik1 T C 17: 32,073,274 (GRCm39) T61A probably benign Het
Sipa1l3 A C 7: 29,098,853 (GRCm39) V472G probably damaging Het
Sirt6 A G 10: 81,458,315 (GRCm39) S313P probably benign Het
Slc12a7 A G 13: 73,912,081 (GRCm39) probably benign Het
Sox13 A T 1: 133,314,862 (GRCm39) V266E probably benign Het
Spag9 T C 11: 93,988,184 (GRCm39) C833R probably damaging Het
Tcof1 T C 18: 60,961,520 (GRCm39) T812A unknown Het
Tnfsf4 A G 1: 161,244,821 (GRCm39) D170G possibly damaging Het
Tshz3 A G 7: 36,469,082 (GRCm39) N357S probably damaging Het
Txk C T 5: 72,858,057 (GRCm39) D418N probably damaging Het
Ube2j2 A G 4: 156,033,773 (GRCm39) probably null Het
Vmn2r84 G A 10: 130,222,552 (GRCm39) P556L probably damaging Het
Zfp1007 T C 5: 109,825,015 (GRCm39) H145R possibly damaging Het
Zfp442 T C 2: 150,250,925 (GRCm39) N326D 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
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'- TAGCTGGTCGATGGTCTCTAGC -3'
(R):5'- AGGTAGCATCACTGAGGCAG -3'

Sequencing Primer
(F):5'- AGGCAGGTCAGCTGGTG -3'
(R):5'- ATCACTGAGGCAGACGCTGAC -3'
Posted On 2019-06-26