Incidental Mutation 'R5448:Actn3'
ID 429196
Institutional Source Beutler Lab
Gene Symbol Actn3
Ensembl Gene ENSMUSG00000006457
Gene Name actinin alpha 3
Synonyms
MMRRC Submission 043013-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.478) question?
Stock # R5448 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 4911244-4927937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4913239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 699 (D699G)
Ref Sequence ENSEMBL: ENSMUSP00000006626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006626] [ENSMUST00000119694]
AlphaFold O88990
Predicted Effect possibly damaging
Transcript: ENSMUST00000006626
AA Change: D699G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: D699G

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 probably benign
Transcript: ENSMUST00000119694
SMART Domains Protein: ENSMUSP00000112481
Gene: ENSMUSG00000083282

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 55 77 N/A INTRINSIC
low complexity region 111 122 N/A INTRINSIC
low complexity region 145 156 N/A INTRINSIC
Inhibitor_I29 165 222 5.41e-16 SMART
Pept_C1 249 460 4.2e-93 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138811
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
C1galt1 C T 6: 7,866,658 (GRCm39) A168V possibly damaging Het
Ccdc180 A T 4: 45,920,913 (GRCm39) E953V probably damaging Het
Ccdc88b T A 19: 6,831,948 (GRCm39) D411V probably damaging Het
Cdadc1 T A 14: 59,811,275 (GRCm39) I412L possibly damaging Het
Clip2 T C 5: 134,542,902 (GRCm39) N424D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo38 A T 18: 62,655,528 (GRCm39) I386N possibly damaging Het
Gm9887 C A 12: 69,418,865 (GRCm39) probably benign Het
Itgae T C 11: 73,024,734 (GRCm39) probably null Het
Klhl2 C A 8: 65,275,642 (GRCm39) probably null Het
Krt1 T A 15: 101,757,464 (GRCm39) K249* probably null Het
L3mbtl2 T C 15: 81,568,534 (GRCm39) Y513H possibly damaging Het
Maml2 A C 9: 13,617,763 (GRCm39) S370R probably damaging Het
Or1e35 T C 11: 73,797,437 (GRCm39) N294D probably damaging Het
Or4c112 T G 2: 88,853,845 (GRCm39) L167F probably benign Het
Pcnx2 T C 8: 126,614,888 (GRCm39) T188A probably benign Het
Pde6c A G 19: 38,121,623 (GRCm39) E77G probably damaging Het
Pgr A G 9: 8,922,638 (GRCm39) I603V probably benign Het
Plce1 T C 19: 38,768,361 (GRCm39) V2212A probably damaging Het
Ppl C T 16: 4,925,430 (GRCm39) A70T probably benign Het
Prpf40a G T 2: 53,046,938 (GRCm39) T266N possibly damaging Het
Prrx1 T C 1: 163,075,867 (GRCm39) E233G probably damaging Het
Rdh16f2 C T 10: 127,712,932 (GRCm39) T310I probably benign Het
Rfx6 T C 10: 51,559,733 (GRCm39) S187P probably damaging Het
Scn10a A T 9: 119,517,013 (GRCm39) F135I probably benign Het
Shld2 G A 14: 33,990,327 (GRCm39) T193I probably benign Het
Slc24a1 A G 9: 64,855,609 (GRCm39) F433L probably benign Het
Slfn3 T A 11: 83,105,431 (GRCm39) L476Q probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Trappc1 T C 11: 69,216,361 (GRCm39) S136P probably benign Het
Tshz3 A G 7: 36,470,654 (GRCm39) E881G possibly damaging Het
Ubash3b A G 9: 40,948,731 (GRCm39) probably null Het
Wdtc1 G A 4: 133,021,608 (GRCm39) A642V probably benign Het
Zdhhc22 T C 12: 87,035,341 (GRCm39) D37G possibly 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
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
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'- GTCACTTTCCACTGCGGGATAG -3'
(R):5'- CCAACACAGGGATTGGCATG -3'

Sequencing Primer
(F):5'- CATTACAAATGGTTGCCAGGCTG -3'
(R):5'- ATTGGCATGAGGGCTGGC -3'
Posted On 2016-09-06