Incidental Mutation 'R7470:Actn3'
ID 579159
Institutional Source Beutler Lab
Gene Symbol Actn3
Ensembl Gene ENSMUSG00000006457
Gene Name actinin alpha 3
Synonyms
MMRRC Submission 045544-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.478) question?
Stock # R7470 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 4911244-4927937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4917842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 375 (S375L)
Ref Sequence ENSEMBL: ENSMUSP00000006626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006626]
AlphaFold O88990
Predicted Effect possibly damaging
Transcript: ENSMUST00000006626
AA Change: S375L

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: S375L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,898,622 (GRCm39) V238E possibly damaging Het
Adgrg6 T C 10: 14,319,810 (GRCm39) T476A probably benign Het
Afm T A 5: 90,679,486 (GRCm39) S327T probably damaging Het
Apol7e T A 15: 77,602,143 (GRCm39) M247K probably benign Het
Aqp12 T A 1: 92,936,385 (GRCm39) L237Q probably damaging Het
Arhgef12 A T 9: 42,951,848 (GRCm39) S63T probably damaging Het
Axdnd1 T A 1: 156,204,086 (GRCm39) E393V Het
Cacna1g T A 11: 94,352,765 (GRCm39) D365V possibly damaging Het
Ccdc3 T A 2: 5,143,115 (GRCm39) V124E possibly damaging Het
Ccr7 C T 11: 99,036,383 (GRCm39) V180M possibly damaging Het
Cd47 T A 16: 49,704,585 (GRCm39) I119K Het
Cenpe A T 3: 134,947,916 (GRCm39) L1158F probably damaging Het
Cfi A G 3: 129,648,736 (GRCm39) R207G probably benign Het
Cyp2j6 T C 4: 96,423,708 (GRCm39) Y220C probably benign Het
Ddhd2 A G 8: 26,225,087 (GRCm39) F577L probably benign Het
Dhx40 T C 11: 86,667,528 (GRCm39) E537G probably damaging Het
Disp3 A T 4: 148,345,527 (GRCm39) C438S possibly damaging Het
Dock3 A G 9: 106,882,644 (GRCm39) S380P probably damaging Het
Ehmt2 A G 17: 35,118,372 (GRCm39) E106G possibly damaging Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Gm11554 A C 11: 99,695,190 (GRCm39) S8A unknown Het
Grm7 A G 6: 111,478,476 (GRCm39) I54V Het
Hbs1l T C 10: 21,234,683 (GRCm39) F579L possibly damaging Het
Hgf C A 5: 16,823,854 (GRCm39) Q684K probably benign Het
Igsf3 T C 3: 101,358,391 (GRCm39) Y741H possibly damaging Het
Il17rb C A 14: 29,719,990 (GRCm39) G304W probably damaging Het
Ino80c C T 18: 24,241,895 (GRCm39) W163* probably null Het
Kcnt1 A C 2: 25,799,845 (GRCm39) D997A probably damaging Het
Klf7 C T 1: 64,081,472 (GRCm39) probably null Het
Lingo1 T C 9: 56,527,908 (GRCm39) Y233C probably damaging Het
Lmo7 C A 14: 102,138,040 (GRCm39) T914K possibly damaging Het
Mark1 G T 1: 184,660,241 (GRCm39) Y138* probably null Het
Mcm3ap C A 10: 76,344,231 (GRCm39) T1791K probably damaging Het
Mcts2 T C 2: 152,529,582 (GRCm39) I131T probably benign Het
Mipep A G 14: 61,040,344 (GRCm39) D288G probably benign Het
Ms4a8a T A 19: 11,053,714 (GRCm39) N131Y possibly damaging Het
Nalcn T C 14: 123,809,456 (GRCm39) E232G probably benign Het
Nat10 C T 2: 103,565,226 (GRCm39) A452T probably benign Het
Nfatc2 G A 2: 168,365,227 (GRCm39) Q596* probably null Het
Nudt13 G T 14: 20,359,791 (GRCm39) G173W probably damaging Het
Or10n1 C A 9: 39,524,998 (GRCm39) T45K probably benign Het
Or1e16 T A 11: 73,286,714 (GRCm39) I45F probably damaging Het
Or5l14 A T 2: 87,792,793 (GRCm39) C148S possibly damaging Het
Or8b4 T A 9: 37,830,592 (GRCm39) I213N probably damaging Het
Otud4 T C 8: 80,399,989 (GRCm39) V901A probably benign Het
Pah G A 10: 87,399,286 (GRCm39) R155Q probably damaging Het
Pkd1l3 A G 8: 110,365,008 (GRCm39) H1130R probably benign Het
Pnliprp1 A G 19: 58,720,457 (GRCm39) N111S possibly damaging Het
Ppp1r21 T C 17: 88,869,649 (GRCm39) Y401H probably damaging Het
Prr14 A G 7: 127,074,997 (GRCm39) K466R probably null Het
Ralgapa2 A G 2: 146,266,587 (GRCm39) L663P probably damaging Het
Reg3d A T 6: 78,353,071 (GRCm39) C171S possibly damaging Het
Reln G T 5: 22,147,739 (GRCm39) L2404I probably damaging Het
Rnasel A C 1: 153,629,777 (GRCm39) I98L probably benign Het
Rnf216 T C 5: 142,978,480 (GRCm39) D886G possibly damaging Het
Rp1l1 A G 14: 64,266,015 (GRCm39) R534G probably benign Het
Selenon A C 4: 134,267,061 (GRCm39) S514A probably benign Het
Sema3d T A 5: 12,558,152 (GRCm39) I228N probably damaging Het
Serpinb9g T A 13: 33,670,617 (GRCm39) I35N probably damaging Het
Siglec1 A C 2: 130,917,744 (GRCm39) H1044Q probably benign Het
Skint5 T A 4: 113,614,128 (GRCm39) I693F unknown Het
Skint5 G T 4: 113,743,000 (GRCm39) L370M unknown Het
Slc12a1 G A 2: 125,059,815 (GRCm39) W905* probably null Het
Slc26a9 G C 1: 131,691,781 (GRCm39) V675L probably benign Het
Slc5a7 A T 17: 54,583,990 (GRCm39) Y433* probably null Het
Slc7a4 A G 16: 17,392,977 (GRCm39) I274T probably benign Het
Slmap A G 14: 26,148,575 (GRCm39) V612A probably benign Het
Spen T C 4: 141,206,605 (GRCm39) D674G unknown Het
Ssh1 T C 5: 114,080,488 (GRCm39) T981A possibly damaging Het
Sycp2l T C 13: 41,316,580 (GRCm39) S180P probably benign Het
Tdrd7 C A 4: 45,990,144 (GRCm39) S181R probably benign Het
Thada T C 17: 84,533,469 (GRCm39) N1661D probably benign Het
Tsga13 C A 6: 30,876,981 (GRCm39) D179Y possibly damaging Het
Ttf2 T G 3: 100,870,478 (GRCm39) Q198H possibly damaging Het
Ugt2b37 T G 5: 87,401,971 (GRCm39) Y220S probably benign Het
Unc79 C T 12: 103,061,235 (GRCm39) T1145I probably damaging Het
Unc80 T A 1: 66,661,621 (GRCm39) M1682K probably benign Het
Vcp A G 4: 42,982,891 (GRCm39) S652P probably damaging Het
Vmn2r-ps158 T A 7: 42,697,310 (GRCm39) M789K probably damaging Het
Wrnip1 T A 13: 33,000,310 (GRCm39) L439* probably null Het
Zfhx2 A G 14: 55,304,207 (GRCm39) I1259T possibly damaging Het
Zfp369 A T 13: 65,439,960 (GRCm39) T215S probably benign Het
Zfp64 A T 2: 168,767,731 (GRCm39) V627E probably damaging Het
Zfp873 T C 10: 81,895,773 (GRCm39) I168T 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
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
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
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'- TGATCTCCGAAAGCAGCCAATC -3'
(R):5'- ACTGTCCCATGGCTAGAGAAC -3'

Sequencing Primer
(F):5'- AGCCAATCCTCATAGCCCTTC -3'
(R):5'- CATGGCTAGAGAACCGCGTG -3'
Posted On 2019-10-07