Incidental Mutation 'IGL01890:Actn1'
ID 179226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actn1
Ensembl Gene ENSMUSG00000015143
Gene Name actinin, alpha 1
Synonyms 3110023F10Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # IGL01890
Quality Score
Status
Chromosome 12
Chromosomal Location 80214321-80307145 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80231642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 265 (V265E)
Ref Sequence ENSEMBL: ENSMUSP00000127176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021554] [ENSMUST00000167327]
AlphaFold Q7TPR4
Predicted Effect probably damaging
Transcript: ENSMUST00000021554
AA Change: V265E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: V265E

DomainStartEndE-ValueType
CH 33 133 4.24e-23 SMART
CH 146 245 5.06e-21 SMART
Pfam:Spectrin 274 384 5.9e-17 PFAM
SPEC 397 498 1.69e-25 SMART
SPEC 512 619 1.47e-2 SMART
Pfam:Spectrin 630 733 4.7e-14 PFAM
EFh 750 778 1.73e-5 SMART
EFh 791 819 8.13e-2 SMART
efhand_Ca_insen 822 888 5.22e-38 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167327
AA Change: V265E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: V265E

DomainStartEndE-ValueType
CH 33 133 4.24e-23 SMART
CH 146 245 5.06e-21 SMART
Pfam:Spectrin 274 384 1.7e-17 PFAM
SPEC 397 498 1.69e-25 SMART
SPEC 512 619 1.47e-2 SMART
Pfam:Spectrin 630 733 8.4e-14 PFAM
EFh 750 778 1.36e0 SMART
EFh 786 814 8.13e-2 SMART
efhand_Ca_insen 817 883 5.22e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218874
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, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks1b A G 10: 90,480,389 (GRCm39) I865V probably benign Het
Car5a G A 8: 122,650,349 (GRCm39) A182V probably benign Het
Ccdc47 A G 11: 106,096,277 (GRCm39) V249A probably damaging Het
Cyb561d2 A G 9: 107,418,722 (GRCm39) V34A probably damaging Het
Dmbt1 A G 7: 130,676,149 (GRCm39) probably benign Het
Entpd6 G A 2: 150,612,612 (GRCm39) D445N possibly damaging Het
Fastkd2 A G 1: 63,771,320 (GRCm39) I225M probably benign Het
Flcn A G 11: 59,685,996 (GRCm39) V424A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpn3 A G 5: 122,519,328 (GRCm39) M176V probably benign Het
Igkv12-38 C T 6: 69,920,389 (GRCm39) C43Y probably damaging Het
Oas1h A G 5: 121,000,852 (GRCm39) probably null Het
Rexo1 A T 10: 80,378,845 (GRCm39) Y1064N possibly damaging Het
Skint1 G A 4: 111,867,878 (GRCm39) G2R probably damaging Het
Slc4a9 G A 18: 36,662,760 (GRCm39) A172T possibly damaging Het
Synpo2 A G 3: 122,906,146 (GRCm39) S727P probably damaging Het
Tmem131 A T 1: 36,862,237 (GRCm39) probably benign Het
Trpm3 G T 19: 22,689,083 (GRCm39) R4L probably damaging Het
Upf1 A T 8: 70,786,880 (GRCm39) V879E possibly damaging Het
Vmn1r194 A T 13: 22,428,776 (GRCm39) Y131F probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r95 T A 17: 18,671,737 (GRCm39) N491K probably damaging Het
Other mutations in Actn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Actn1 APN 12 80,245,846 (GRCm39) splice site probably null
IGL01152:Actn1 APN 12 80,245,820 (GRCm39) missense probably damaging 1.00
IGL01386:Actn1 APN 12 80,240,446 (GRCm39) missense probably benign 0.03
IGL01937:Actn1 APN 12 80,218,537 (GRCm39) missense probably benign 0.03
IGL02142:Actn1 APN 12 80,222,929 (GRCm39) critical splice donor site probably null
IGL02191:Actn1 APN 12 80,220,883 (GRCm39) missense probably benign
IGL02217:Actn1 APN 12 80,220,868 (GRCm39) nonsense probably null
IGL02230:Actn1 APN 12 80,218,604 (GRCm39) missense probably benign 0.02
IGL03163:Actn1 APN 12 80,228,191 (GRCm39) missense probably benign 0.33
IGL03401:Actn1 APN 12 80,215,741 (GRCm39) nonsense probably null
R0538:Actn1 UTSW 12 80,306,874 (GRCm39) unclassified probably benign
R0546:Actn1 UTSW 12 80,225,208 (GRCm39) missense probably benign
R0583:Actn1 UTSW 12 80,245,803 (GRCm39) missense probably damaging 1.00
R0606:Actn1 UTSW 12 80,221,421 (GRCm39) splice site probably benign
R1340:Actn1 UTSW 12 80,219,918 (GRCm39) critical splice acceptor site probably null
R1519:Actn1 UTSW 12 80,251,852 (GRCm39) missense probably damaging 1.00
R1572:Actn1 UTSW 12 80,219,731 (GRCm39) splice site probably benign
R1619:Actn1 UTSW 12 80,219,796 (GRCm39) missense probably damaging 1.00
R1677:Actn1 UTSW 12 80,306,806 (GRCm39) missense probably benign 0.02
R1994:Actn1 UTSW 12 80,251,745 (GRCm39) nonsense probably null
R2102:Actn1 UTSW 12 80,230,291 (GRCm39) missense probably benign 0.38
R2157:Actn1 UTSW 12 80,219,891 (GRCm39) missense probably benign 0.04
R2191:Actn1 UTSW 12 80,218,576 (GRCm39) nonsense probably null
R2519:Actn1 UTSW 12 80,239,163 (GRCm39) missense probably damaging 1.00
R2988:Actn1 UTSW 12 80,239,162 (GRCm39) missense possibly damaging 0.78
R4024:Actn1 UTSW 12 80,215,251 (GRCm39) missense probably damaging 1.00
R4589:Actn1 UTSW 12 80,218,573 (GRCm39) missense possibly damaging 0.53
R4907:Actn1 UTSW 12 80,228,188 (GRCm39) missense probably damaging 0.99
R4936:Actn1 UTSW 12 80,219,772 (GRCm39) missense probably benign 0.09
R4966:Actn1 UTSW 12 80,219,904 (GRCm39) missense probably benign 0.01
R4972:Actn1 UTSW 12 80,219,813 (GRCm39) missense probably benign 0.35
R5395:Actn1 UTSW 12 80,217,477 (GRCm39) missense probably benign
R5460:Actn1 UTSW 12 80,230,342 (GRCm39) missense probably benign 0.00
R5467:Actn1 UTSW 12 80,222,991 (GRCm39) missense possibly damaging 0.86
R5470:Actn1 UTSW 12 80,215,715 (GRCm39) missense probably damaging 0.99
R5661:Actn1 UTSW 12 80,231,618 (GRCm39) missense probably benign 0.09
R5985:Actn1 UTSW 12 80,215,169 (GRCm39) missense probably damaging 1.00
R6020:Actn1 UTSW 12 80,221,229 (GRCm39) splice site probably null
R6042:Actn1 UTSW 12 80,224,023 (GRCm39) missense probably benign 0.04
R6389:Actn1 UTSW 12 80,221,296 (GRCm39) missense probably benign
R6499:Actn1 UTSW 12 80,215,191 (GRCm39) missense possibly damaging 0.59
R6709:Actn1 UTSW 12 80,240,418 (GRCm39) missense probably damaging 1.00
R7016:Actn1 UTSW 12 80,219,742 (GRCm39) missense possibly damaging 0.94
R7116:Actn1 UTSW 12 80,251,751 (GRCm39) missense probably damaging 1.00
R7173:Actn1 UTSW 12 80,224,033 (GRCm39) missense possibly damaging 0.70
R7183:Actn1 UTSW 12 80,215,706 (GRCm39) missense possibly damaging 0.87
R7291:Actn1 UTSW 12 80,220,859 (GRCm39) missense probably benign 0.00
R7361:Actn1 UTSW 12 80,240,489 (GRCm39) missense probably benign 0.01
R7452:Actn1 UTSW 12 80,230,376 (GRCm39) missense probably benign 0.12
R7698:Actn1 UTSW 12 80,221,311 (GRCm39) missense probably benign 0.00
R7701:Actn1 UTSW 12 80,221,328 (GRCm39) missense possibly damaging 0.88
R8000:Actn1 UTSW 12 80,245,782 (GRCm39) missense probably damaging 1.00
R8171:Actn1 UTSW 12 80,243,167 (GRCm39) critical splice donor site probably null
R8287:Actn1 UTSW 12 80,220,852 (GRCm39) critical splice donor site probably null
R8469:Actn1 UTSW 12 80,240,457 (GRCm39) missense possibly damaging 0.95
R8794:Actn1 UTSW 12 80,245,754 (GRCm39) critical splice donor site probably benign
R8887:Actn1 UTSW 12 80,215,197 (GRCm39) missense probably damaging 1.00
R9237:Actn1 UTSW 12 80,240,470 (GRCm39) missense possibly damaging 0.92
R9269:Actn1 UTSW 12 80,219,745 (GRCm39) missense probably benign 0.01
R9520:Actn1 UTSW 12 80,240,417 (GRCm39) missense probably damaging 1.00
R9526:Actn1 UTSW 12 80,230,393 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07