Incidental Mutation 'R5753:Actn3'
ID 462619
Institutional Source Beutler Lab
Gene Symbol Actn3
Ensembl Gene ENSMUSG00000006457
Gene Name actinin alpha 3
Synonyms
MMRRC Submission 043358-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.478) question?
Stock # R5753 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4911244-4927937 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 4914595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006626] [ENSMUST00000119694]
AlphaFold O88990
Predicted Effect probably null
Transcript: ENSMUST00000006626
SMART Domains Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457

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
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 97% (58/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik C T 5: 88,120,374 (GRCm39) T377I probably damaging Het
Abcb1a A G 5: 8,773,160 (GRCm39) D796G probably damaging Het
Ada A T 2: 163,577,318 (GRCm39) S57T probably benign Het
Adamts6 A G 13: 104,483,858 (GRCm39) Y359C probably damaging Het
Adcy1 A T 11: 7,080,300 (GRCm39) I348F probably damaging Het
Ankrd11 T C 8: 123,622,043 (GRCm39) E603G possibly damaging Het
Bcas3 A G 11: 85,712,910 (GRCm39) probably benign Het
Cldn1 C A 16: 26,181,871 (GRCm39) V113L probably benign Het
Dock9 T C 14: 121,872,037 (GRCm39) T540A probably benign Het
Erp27 A G 6: 136,896,875 (GRCm39) F109S probably damaging Het
F13a1 G A 13: 37,082,082 (GRCm39) Q541* probably null Het
Fam124a T C 14: 62,843,988 (GRCm39) S499P probably benign Het
Fgd3 T A 13: 49,428,416 (GRCm39) E486V possibly damaging Het
Flnc T C 6: 29,433,488 (GRCm39) S11P probably benign Het
Gm12508 C A 4: 55,254,787 (GRCm39) noncoding transcript Het
Grk2 C T 19: 4,340,496 (GRCm39) R295H probably damaging Het
Gtf2ird1 A G 5: 134,439,837 (GRCm39) M131T probably damaging Het
H4c4 G A 13: 23,765,587 (GRCm39) M1I probably null Het
Itpripl2 A G 7: 118,090,232 (GRCm39) V109A probably damaging Het
Jakmip2 T C 18: 43,692,181 (GRCm39) E585G probably damaging Het
Kbtbd3 A T 9: 4,331,404 (GRCm39) I593F possibly damaging Het
Lgr4 C T 2: 109,832,857 (GRCm39) Q316* probably null Het
Mcf2l T C 8: 13,049,993 (GRCm39) F305S probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or4c3 T C 2: 89,851,847 (GRCm39) T188A possibly damaging Het
Or4k51 T A 2: 111,585,146 (GRCm39) I184K possibly damaging Het
Or4q3 T A 14: 50,583,045 (GRCm39) T285S probably damaging Het
Or51b17 A G 7: 103,542,408 (GRCm39) L178P probably damaging Het
Or5d18 G A 2: 87,864,920 (GRCm39) L188F probably damaging Het
Or5w18 A T 2: 87,633,596 (GRCm39) M288L probably benign Het
Or7a40 A T 16: 16,491,484 (GRCm39) Y120* probably null Het
Pcdh9 T A 14: 94,125,597 (GRCm39) D191V probably damaging Het
Pde4d T A 13: 109,909,256 (GRCm39) probably benign Het
Phkb C T 8: 86,604,859 (GRCm39) A88V probably damaging Het
Plec A G 15: 76,057,620 (GRCm39) S4128P probably damaging Het
Plekha5 A T 6: 140,482,730 (GRCm39) probably null Het
Rgs13 A C 1: 144,016,478 (GRCm39) N88K probably benign Het
Rho T A 6: 115,912,448 (GRCm39) I104N probably damaging Het
Rnps1 T C 17: 24,637,138 (GRCm39) probably benign Het
Saxo5 A T 8: 3,534,112 (GRCm39) I350L probably benign Het
Slc10a7 G T 8: 79,251,928 (GRCm39) probably null Het
Slc39a7 C T 17: 34,249,150 (GRCm39) R246K probably damaging Het
Sort1 G C 3: 108,253,090 (GRCm39) G510A probably damaging Het
Spag6l A G 16: 16,584,831 (GRCm39) probably null Het
Sync T A 4: 129,187,179 (GRCm39) Y70* probably null Het
Timm8a2 T C 14: 122,272,289 (GRCm39) V64A probably benign Het
Tnfrsf11b C A 15: 54,117,455 (GRCm39) V267L possibly damaging Het
Trim30b A G 7: 104,006,544 (GRCm39) V104A possibly damaging Het
Tusc3 T C 8: 39,564,100 (GRCm39) S244P probably damaging Het
Usp16 T A 16: 87,279,787 (GRCm39) Y746N probably damaging Het
Vax1 G T 19: 59,154,814 (GRCm39) H274Q probably benign Het
Vmn2r108 A G 17: 20,683,179 (GRCm39) V675A probably damaging Het
Vmn2r12 A T 5: 109,239,670 (GRCm39) W298R probably damaging Het
Zfp948 A G 17: 21,807,156 (GRCm39) N116S probably damaging Het
Zkscan2 A G 7: 123,079,923 (GRCm39) V678A 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
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'- ATGTGAGACCAGTTTTCCTCTC -3'
(R):5'- TCAGTGAGCTCGACTACCATG -3'

Sequencing Primer
(F):5'- GTGAGACCAGTTTTCCTCTCATCAC -3'
(R):5'- AGCTCGACTACCATGAGGCAG -3'
Posted On 2017-03-01