Incidental Mutation 'R4017:Actn3'
ID 312009
Institutional Source Beutler Lab
Gene Symbol Actn3
Ensembl Gene ENSMUSG00000006457
Gene Name actinin alpha 3
Synonyms
MMRRC Submission 041611-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.478) question?
Stock # R4017 (G1)
Quality Score 187
Status Validated
Chromosome 19
Chromosomal Location 4911244-4927937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4917574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 423 (T423N)
Ref Sequence ENSEMBL: ENSMUSP00000006626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006626]
AlphaFold O88990
Predicted Effect possibly damaging
Transcript: ENSMUST00000006626
AA Change: T423N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: T423N

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
Meta Mutation Damage Score 0.0822 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 97% (36/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apold1 A G 6: 134,960,869 (GRCm39) I108V probably benign Het
Arhgap21 G T 2: 20,896,915 (GRCm39) F121L probably benign Het
BC004004 T C 17: 29,517,706 (GRCm39) S307P probably damaging Het
Cpeb4 A G 11: 31,874,671 (GRCm39) D484G probably damaging Het
Dctpp1 G A 7: 126,856,285 (GRCm39) R146C probably damaging Het
Dnm2 A G 9: 21,405,900 (GRCm39) Y553C probably damaging Het
Dync1h1 G T 12: 110,609,624 (GRCm39) R2802I probably damaging Het
Eif2a T A 3: 58,452,776 (GRCm39) M209K probably damaging Het
Epb41 A T 4: 131,709,756 (GRCm39) probably benign Het
Fnip1 A G 11: 54,400,813 (GRCm39) K1071E probably benign Het
Igf2bp2 T C 16: 21,882,426 (GRCm39) N425S probably damaging Het
Kdm5a T A 6: 120,371,067 (GRCm39) Y504N probably damaging Het
Kif1a T C 1: 93,004,014 (GRCm39) D156G probably damaging Het
Klhl10 G A 11: 100,336,500 (GRCm39) M162I probably benign Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Lrp6 G T 6: 134,497,513 (GRCm39) R165S probably damaging Het
Muc5b G A 7: 141,417,367 (GRCm39) V3438M probably benign Het
Myo3a A G 2: 22,468,182 (GRCm39) R479G possibly damaging Het
Npr1 T C 3: 90,363,539 (GRCm39) E828G probably damaging Het
Obscn A G 11: 59,023,448 (GRCm39) F643S probably damaging Het
Or11h23 A T 14: 50,948,333 (GRCm39) D182V probably benign Het
Or12e1 A G 2: 87,022,846 (GRCm39) S272G probably benign Het
Pcdhga8 T C 18: 37,948,791 (GRCm39) V69A probably damaging Het
Ppp6r1 C A 7: 4,636,743 (GRCm39) C688F probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rnf157 A T 11: 116,250,067 (GRCm39) probably null Het
Saxo1 A T 4: 86,476,233 (GRCm39) I7N possibly damaging Het
Scn7a A T 2: 66,572,329 (GRCm39) I214N probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Suz12 G T 11: 79,904,292 (GRCm39) V211F probably damaging Het
Trim9 G A 12: 70,393,126 (GRCm39) H273Y probably damaging Het
Uggt2 T C 14: 119,263,845 (GRCm39) N1062D possibly damaging Het
Wdr70 A T 15: 8,108,698 (GRCm39) C149* probably null Het
Zfp940 T C 7: 29,545,359 (GRCm39) I183V probably benign 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
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
R5349:Actn3 UTSW 19 4,917,986 (GRCm39) missense possibly damaging 0.94
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'- TGCATAGCAACAAGTCAGGATG -3'
(R):5'- ATGGAGGCCACCTTTGTTTTCC -3'

Sequencing Primer
(F):5'- AGGTCCAGTAGCTCATGTCC -3'
(R):5'- TCCACTCAGGACATAGCCAATG -3'
Posted On 2015-04-29