Incidental Mutation 'IGL03204:Actc1'
ID413095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actc1
Ensembl Gene ENSMUSG00000068614
Gene Nameactin, alpha, cardiac muscle 1
Synonymsalphac-actin, Actc-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03204
Quality Score
Status
Chromosome2
Chromosomal Location114047282-114053548 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114049530 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 201 (S201T)
Ref Sequence ENSEMBL: ENSMUSP00000087736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090269] [ENSMUST00000149125]
Predicted Effect possibly damaging
Transcript: ENSMUST00000090269
AA Change: S201T

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000087736
Gene: ENSMUSG00000068614
AA Change: S201T

DomainStartEndE-ValueType
ACTIN 7 377 4.38e-238 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140041
Predicted Effect probably benign
Transcript: ENSMUST00000149125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154140
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation of this gene results in embryonic and postnatal lethality. Animals that survive to birth die within the first 2 weeks and display reduced body size and heart muscle defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik A G 14: 8,644,436 I80T possibly damaging Het
4932438A13Rik A G 3: 37,050,934 probably benign Het
Abhd14a A T 9: 106,440,635 F191I probably damaging Het
Ankrd36 T A 11: 5,584,023 D291E possibly damaging Het
Btbd7 T A 12: 102,807,980 R510* probably null Het
Eif4a3 A T 11: 119,293,616 D249E possibly damaging Het
Elovl6 A G 3: 129,633,344 M220V probably benign Het
Ets1 C T 9: 32,733,012 S156L possibly damaging Het
Gja8 C T 3: 96,920,092 V85I probably damaging Het
Glipr2 T A 4: 43,970,507 D7E probably benign Het
Il22 C T 10: 118,205,180 probably benign Het
Itln1 A G 1: 171,530,604 V80A probably damaging Het
Kdr A T 5: 75,972,382 C79S possibly damaging Het
Kif26a A T 12: 112,174,779 H672L probably damaging Het
Klhl40 A T 9: 121,782,630 T570S probably benign Het
Macf1 A G 4: 123,355,277 probably benign Het
Magi3 T A 3: 104,105,835 N112I probably damaging Het
Moxd2 T C 6: 40,887,305 T64A probably benign Het
Myh4 T C 11: 67,250,296 V728A possibly damaging Het
Olfr1037 G T 2: 86,085,671 Y35* probably null Het
Prkdc A G 16: 15,769,801 I2517V probably benign Het
Ralgapb A G 2: 158,465,912 I1047V possibly damaging Het
Smg9 A G 7: 24,420,912 E437G probably benign Het
Snx4 A G 16: 33,269,669 K188R probably benign Het
Sox14 A G 9: 99,875,057 S210P probably benign Het
Spata1 A G 3: 146,488,679 F77L probably benign Het
Spata18 G T 5: 73,671,106 probably benign Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Wdr59 T C 8: 111,485,370 H356R probably benign Het
Zfp462 A G 4: 55,080,785 D1380G possibly damaging Het
Other mutations in Actc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Actc1 APN 2 114048113 unclassified probably benign
IGL02985:Actc1 APN 2 114048160 missense probably damaging 1.00
R1201:Actc1 UTSW 2 114049513 critical splice donor site probably null
R1463:Actc1 UTSW 2 114049529 missense probably damaging 1.00
R4255:Actc1 UTSW 2 114049216 missense probably benign 0.02
R4476:Actc1 UTSW 2 114049226 missense probably benign
R4581:Actc1 UTSW 2 114049608 missense possibly damaging 0.88
R5466:Actc1 UTSW 2 114050498 missense probably damaging 0.99
R6395:Actc1 UTSW 2 114049250 nonsense probably null
Posted On2016-08-02