Incidental Mutation 'IGL02985:Actc1'
ID406692
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 #IGL02985
Quality Score
Status
Chromosome2
Chromosomal Location114047282-114053548 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 114048160 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 318 (E318G)
Ref Sequence ENSEMBL: ENSMUSP00000087736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090269] [ENSMUST00000149125]
Predicted Effect probably damaging
Transcript: ENSMUST00000090269
AA Change: E318G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087736
Gene: ENSMUSG00000068614
AA Change: E318G

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,958,757 L1862S probably damaging Het
Birc6 T C 17: 74,640,190 V2968A probably benign Het
Csgalnact1 A G 8: 68,461,043 V170A probably benign Het
Dph1 A G 11: 75,183,593 V131A possibly damaging Het
Galr1 A T 18: 82,393,730 M337K probably benign Het
Gm14214 G T 2: 154,769,454 T160N probably benign Het
Gpatch8 G T 11: 102,481,510 H401N unknown Het
Higd1a A G 9: 121,852,530 F20L probably benign Het
Hmcn1 A T 1: 150,671,917 I2761K probably damaging Het
Hspg2 T A 4: 137,507,803 Y83N probably damaging Het
Ilvbl C T 10: 78,579,067 P255S probably benign Het
Kpna2 T C 11: 106,989,337 Y495C probably benign Het
Krt36 G T 11: 100,103,179 Q327K probably benign Het
Lrrc34 T C 3: 30,636,295 M153V probably benign Het
Maats1 T A 16: 38,298,272 I722F probably damaging Het
Map9 A T 3: 82,359,902 R30* probably null Het
Mcf2l A G 8: 12,963,239 Y48C probably damaging Het
Mfsd13b T A 7: 121,000,172 I397K probably damaging Het
Mpp7 C A 18: 7,461,637 probably null Het
Mrgprx2 C T 7: 48,482,497 C191Y probably damaging Het
Olfr48 A T 2: 89,844,340 I211N possibly damaging Het
Pabpc4l A G 3: 46,446,582 V209A possibly damaging Het
Pde7a T A 3: 19,310,883 H40L probably damaging Het
Phactr3 T C 2: 178,175,457 V22A probably benign Het
Plcl2 G T 17: 50,687,814 E1104* probably null Het
Ppp2cb A G 8: 33,615,446 probably benign Het
Prl3c1 A T 13: 27,199,387 Y12F probably damaging Het
Prune2 T C 19: 17,016,359 probably null Het
Rfesd T C 13: 76,008,212 D25G probably damaging Het
Rxfp1 C A 3: 79,652,226 M429I possibly damaging Het
Tmf1 A G 6: 97,176,809 L101P probably damaging Het
Ube2d2b T C 5: 107,830,797 S105P probably damaging Het
Wdr92 G A 11: 17,229,845 G282E probably damaging Het
Zfp518a C T 19: 40,913,667 T680I possibly damaging Het
Other mutations in Actc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Actc1 APN 2 114048113 unclassified probably benign
IGL03204:Actc1 APN 2 114049530 missense possibly damaging 0.57
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
Z1176:Actc1 UTSW 2 114051997 missense probably benign 0.00
Z1177:Actc1 UTSW 2 114047513 nonsense probably null
Posted On2016-08-02