Incidental Mutation 'R5349:Actn3'
ID 422782
Institutional Source Beutler Lab
Gene Symbol Actn3
Ensembl Gene ENSMUSG00000006457
Gene Name actinin alpha 3
Synonyms
MMRRC Submission 042928-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.478) question?
Stock # R5349 (G1)
Quality Score 208
Status Not validated
Chromosome 19
Chromosomal Location 4911244-4927937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4917986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 327 (E327G)
Ref Sequence ENSEMBL: ENSMUSP00000006626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006626]
AlphaFold O88990
Predicted Effect possibly damaging
Transcript: ENSMUST00000006626
AA Change: E327G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: E327G

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
CH 46 146 1.4e-23 SMART
CH 159 258 4.83e-27 SMART
low complexity region 261 272 N/A INTRINSIC
Pfam:Spectrin 287 397 5.5e-15 PFAM
SPEC 410 511 3.78e-23 SMART
SPEC 525 632 2.37e-6 SMART
Pfam:Spectrin 643 746 4.1e-15 PFAM
EFh 763 791 7.93e-1 SMART
EFh 799 827 5.96e-1 SMART
efhand_Ca_insen 830 896 2.29e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138811
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit an increase mitochondria density and a shift from anaerobic to aerobic metabolism in fast muscle fiber that is associated with increased aerobic capacity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd209d T G 8: 3,928,320 (GRCm39) M22L probably benign Het
Chrna2 T C 14: 66,380,956 (GRCm39) V75A probably damaging Het
Cnst A G 1: 179,450,462 (GRCm39) E642G possibly damaging Het
Diaph1 A G 18: 38,024,125 (GRCm39) V571A unknown Het
Dip2c C A 13: 9,672,689 (GRCm39) H1032N probably damaging Het
Eif4a3l1 A T 6: 136,306,694 (GRCm39) D385V probably damaging Het
Fbxl3 T C 14: 103,333,012 (GRCm39) probably benign Het
Glb1 T C 9: 114,263,529 (GRCm39) probably null Het
Gm8220 T C 14: 44,525,634 (GRCm39) I101T probably benign Het
Grin2b A G 6: 136,021,281 (GRCm39) C7R possibly damaging Het
Myo15a T C 11: 60,384,409 (GRCm39) I516T probably damaging Het
Nr1i3 A G 1: 171,042,641 (GRCm39) D89G possibly damaging Het
Ogfod1 T G 8: 94,781,876 (GRCm39) probably benign Het
Or4k2 G T 14: 50,424,230 (GRCm39) S148* probably null Het
Pard3 G T 8: 128,142,224 (GRCm39) D930Y probably damaging Het
Pde7b C T 10: 20,494,932 (GRCm39) C9Y probably damaging Het
Pilra T A 5: 137,829,488 (GRCm39) D192V probably damaging Het
Ptprj A G 2: 90,301,605 (GRCm39) S176P probably benign Het
Slc4a2 T C 5: 24,640,633 (GRCm39) V685A possibly damaging Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
Stox2 A G 8: 47,740,951 (GRCm39) F44L possibly damaging Het
Tlr11 T C 14: 50,598,337 (GRCm39) F108L probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A C 2: 76,638,450 (GRCm39) I13943M probably damaging Het
Wdfy4 T C 14: 32,710,856 (GRCm39) D2577G probably damaging Het
Zyg11a A T 4: 108,040,929 (GRCm39) F675I probably damaging Het
Other mutations in Actn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
ballooned UTSW 19 4,921,876 (GRCm39) missense probably damaging 1.00
bamboozled UTSW 19 4,921,683 (GRCm39) missense probably damaging 1.00
confused UTSW 19 4,915,468 (GRCm39) missense probably benign 0.09
PIT4480001:Actn3 UTSW 19 4,917,605 (GRCm39) nonsense probably null
R0128:Actn3 UTSW 19 4,921,643 (GRCm39) missense probably damaging 1.00
R1174:Actn3 UTSW 19 4,914,784 (GRCm39) missense probably damaging 1.00
R1181:Actn3 UTSW 19 4,922,638 (GRCm39) missense probably benign 0.07
R1239:Actn3 UTSW 19 4,915,483 (GRCm39) unclassified probably benign
R1445:Actn3 UTSW 19 4,915,483 (GRCm39) unclassified probably benign
R1698:Actn3 UTSW 19 4,912,235 (GRCm39) missense possibly damaging 0.55
R2127:Actn3 UTSW 19 4,921,703 (GRCm39) missense probably damaging 1.00
R4017:Actn3 UTSW 19 4,917,574 (GRCm39) missense possibly damaging 0.95
R4293:Actn3 UTSW 19 4,915,468 (GRCm39) missense probably benign 0.09
R4482:Actn3 UTSW 19 4,913,436 (GRCm39) critical splice donor site probably null
R4840:Actn3 UTSW 19 4,914,539 (GRCm39) missense probably damaging 1.00
R4868:Actn3 UTSW 19 4,914,482 (GRCm39) missense probably benign 0.24
R5152:Actn3 UTSW 19 4,913,572 (GRCm39) missense probably damaging 1.00
R5420:Actn3 UTSW 19 4,915,372 (GRCm39) frame shift probably null
R5448:Actn3 UTSW 19 4,913,239 (GRCm39) missense possibly damaging 0.94
R5563:Actn3 UTSW 19 4,922,344 (GRCm39) missense probably damaging 1.00
R5753:Actn3 UTSW 19 4,914,595 (GRCm39) critical splice acceptor site probably null
R6457:Actn3 UTSW 19 4,921,876 (GRCm39) missense probably damaging 1.00
R7236:Actn3 UTSW 19 4,921,644 (GRCm39) missense probably benign 0.07
R7470:Actn3 UTSW 19 4,917,842 (GRCm39) missense possibly damaging 0.87
R7980:Actn3 UTSW 19 4,917,950 (GRCm39) missense probably damaging 1.00
R8232:Actn3 UTSW 19 4,921,683 (GRCm39) missense probably damaging 1.00
R8348:Actn3 UTSW 19 4,915,361 (GRCm39) missense possibly damaging 0.61
R8421:Actn3 UTSW 19 4,911,741 (GRCm39) missense probably benign
R8754:Actn3 UTSW 19 4,913,488 (GRCm39) missense probably damaging 1.00
R8803:Actn3 UTSW 19 4,914,691 (GRCm39) missense probably benign 0.11
R8937:Actn3 UTSW 19 4,921,798 (GRCm39) critical splice donor site probably null
R9212:Actn3 UTSW 19 4,914,565 (GRCm39) missense probably benign 0.39
R9255:Actn3 UTSW 19 4,921,820 (GRCm39) missense probably damaging 1.00
R9300:Actn3 UTSW 19 4,921,656 (GRCm39) missense probably benign 0.17
R9534:Actn3 UTSW 19 4,913,477 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGGAATCCAGAACCCAAGG -3'
(R):5'- TTTGAGACCCGACCCTATGG -3'

Sequencing Primer
(F):5'- CAAGGTCACCCAGGACATATGG -3'
(R):5'- GCCACCATCTATGTGTGGAG -3'
Posted On 2016-08-04