Incidental Mutation 'R1174:Actn3'
ID99861
Institutional Source Beutler Lab
Gene Symbol Actn3
Ensembl Gene ENSMUSG00000006457
Gene Nameactinin alpha 3
Synonyms
MMRRC Submission 039247-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.401) question?
Stock #R1174 (G1)
Quality Score225
Status Not validated
Chromosome19
Chromosomal Location4861223-4877909 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4864756 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 477 (L477P)
Ref Sequence ENSEMBL: ENSMUSP00000006626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006626] [ENSMUST00000119694]
Predicted Effect probably damaging
Transcript: ENSMUST00000006626
AA Change: L477P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006626
Gene: ENSMUSG00000006457
AA Change: L477P

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 17,117,582 H214L probably benign Het
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
Adamts12 T C 15: 11,071,757 V129A probably benign Het
Agxt2 T C 15: 10,373,751 F81S probably damaging Het
Alpk1 T A 3: 127,680,810 S515C probably damaging Het
Bivm A G 1: 44,126,782 T131A probably benign Het
Borcs5 T A 6: 134,710,133 N150K probably damaging Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cox4i1 C A 8: 120,674,050 N151K probably benign Het
Cpeb4 T C 11: 31,920,472 L432P probably damaging Het
Dnajb11 T A 16: 22,870,673 D281E probably damaging Het
Eml6 A G 11: 29,749,824 S1771P possibly damaging Het
Fes A T 7: 80,377,951 I815N probably damaging Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm10093 A T 17: 78,492,078 Y166F probably benign Het
Gm1818 A G 12: 48,556,199 noncoding transcript Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Idh1 G T 1: 65,161,160 N348K probably benign Het
Klf6 A G 13: 5,861,712 D25G probably benign Het
Laptm4a T C 12: 8,936,716 V258A probably damaging Het
Lypd6b C T 2: 49,943,597 A83V possibly damaging Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Mfsd13a T A 19: 46,374,686 I511N probably benign Het
Mrm3 T C 11: 76,250,024 V286A probably damaging Het
Muc6 C T 7: 141,648,101 G708S probably damaging Het
Neurl4 T C 11: 69,903,721 probably null Het
Pclo T C 5: 14,677,646 probably benign Het
Pcnt A T 10: 76,393,044 probably null Het
Pik3r4 G T 9: 105,663,174 G754C probably damaging Het
Qtrt1 A G 9: 21,412,486 T136A probably benign Het
Rgs12 T A 5: 34,966,465 C531S probably benign Het
Rin1 C A 19: 5,055,203 Q764K probably benign Het
Robo4 C T 9: 37,413,052 R959W probably damaging Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Serpinb9d C T 13: 33,200,625 P195L probably benign Het
Sos1 A C 17: 80,445,608 Y323* probably null Het
Ssxb8 T G X: 8,689,823 H88P probably damaging Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Tas2r140 T C 6: 133,054,871 E308G probably benign Het
Tdo2 A T 3: 81,974,376 S40R probably damaging Het
Tle4 C T 19: 14,468,262 V207I probably benign Het
Txlnb A G 10: 17,842,756 N445S probably benign Het
Ubap2l A T 3: 90,023,500 S413T probably benign Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vmn2r12 A T 5: 109,092,854 I131N probably benign Het
Vwa1 C T 4: 155,773,266 G25D probably damaging Het
Zfp185 A T X: 72,999,323 E138D possibly damaging Het
Other mutations in Actn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
ballooned UTSW 19 4871848 missense probably damaging 1.00
PIT4480001:Actn3 UTSW 19 4867577 nonsense probably null
R0128:Actn3 UTSW 19 4871615 missense probably damaging 1.00
R1181:Actn3 UTSW 19 4872610 missense probably benign 0.07
R1239:Actn3 UTSW 19 4865455 unclassified probably benign
R1445:Actn3 UTSW 19 4865455 unclassified probably benign
R1698:Actn3 UTSW 19 4862207 missense possibly damaging 0.55
R2127:Actn3 UTSW 19 4871675 missense probably damaging 1.00
R4017:Actn3 UTSW 19 4867546 missense possibly damaging 0.95
R4293:Actn3 UTSW 19 4865440 missense probably benign 0.09
R4482:Actn3 UTSW 19 4863408 critical splice donor site probably null
R4840:Actn3 UTSW 19 4864511 missense probably damaging 1.00
R4868:Actn3 UTSW 19 4864454 missense probably benign 0.24
R5152:Actn3 UTSW 19 4863544 missense probably damaging 1.00
R5349:Actn3 UTSW 19 4867958 missense possibly damaging 0.94
R5420:Actn3 UTSW 19 4865344 frame shift probably null
R5448:Actn3 UTSW 19 4863211 missense possibly damaging 0.94
R5563:Actn3 UTSW 19 4872316 missense probably damaging 1.00
R5753:Actn3 UTSW 19 4864567 critical splice acceptor site probably null
R6457:Actn3 UTSW 19 4871848 missense probably damaging 1.00
R7236:Actn3 UTSW 19 4871616 missense probably benign 0.07
R7470:Actn3 UTSW 19 4867814 missense possibly damaging 0.87
Predicted Primers
Posted On2014-01-15