Incidental Mutation 'IGL00921:Actb'
ID27419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actb
Ensembl Gene ENSMUSG00000029580
Gene Nameactin, beta
SynonymsActx, A-X actin-like protein, E430023M04Rik, beta-actin
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00921
Quality Score
Status
Chromosome5
Chromosomal Location142903115-142906754 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 142904436 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 237 (E237G)
Ref Sequence ENSEMBL: ENSMUSP00000130611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100497] [ENSMUST00000106216] [ENSMUST00000163829] [ENSMUST00000167721] [ENSMUST00000171419]
Predicted Effect possibly damaging
Transcript: ENSMUST00000100497
AA Change: E237G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098066
Gene: ENSMUSG00000029580
AA Change: E237G

DomainStartEndE-ValueType
ACTIN 5 375 1.67e-243 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106216
SMART Domains Protein: ENSMUSP00000101823
Gene: ENSMUSG00000029580

DomainStartEndE-ValueType
ACTIN 8 150 8.66e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163829
SMART Domains Protein: ENSMUSP00000132135
Gene: ENSMUSG00000029580

DomainStartEndE-ValueType
Pfam:Actin 2 58 8.5e-18 PFAM
Pfam:Actin 52 108 6.8e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167386
Predicted Effect possibly damaging
Transcript: ENSMUST00000167721
AA Change: E157G

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127663
Gene: ENSMUSG00000029580
AA Change: E157G

DomainStartEndE-ValueType
ACTIN 5 295 1.84e-149 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171419
AA Change: E237G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130611
Gene: ENSMUSG00000029580
AA Change: E237G

DomainStartEndE-ValueType
ACTIN 5 265 3.43e-117 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196997
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the actin family of proteins. Actins are highly conserved proteins that are among the most abundant proteins in eukaryotic cells and are involved in cell motility, structure, and integrity. Localization, stability, and translation of the transcribed mRNA are regulated through the binding of multiple factors to its 3' UTR sequence. Homozygous knockout mice for this gene exhibit embryonic lethality. Numerous pseudogenes of this gene have been identified in the mouse genome. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants are embryonic lethal. Homozygotes for a hypomorphic targeted mutation develop normally until embryonic day 8.5; are growth retarded by day 9.5 and die shortly thereafter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,285,729 I1530T probably damaging Het
Atrnl1 A G 19: 57,702,153 E931G probably damaging Het
Cenpc1 T C 5: 86,037,528 T375A probably benign Het
D1Pas1 A G 1: 186,968,786 D304G probably benign Het
Ddx49 G A 8: 70,294,756 Q345* probably null Het
Dnttip2 A T 3: 122,275,290 K51N probably benign Het
Fxr2 A G 11: 69,652,240 E621G probably damaging Het
Grhpr A G 4: 44,988,991 D216G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hook2 T C 8: 85,002,497 probably benign Het
Hspbp1 A G 7: 4,664,751 S248P probably damaging Het
Kat6a C T 8: 22,940,263 P1878L unknown Het
Klrg1 A T 6: 122,282,752 D20E probably benign Het
Layn G A 9: 51,057,408 T345I probably damaging Het
Mpi G A 9: 57,552,266 L9F probably damaging Het
Nbn T C 4: 15,963,833 V78A possibly damaging Het
Pkdrej A G 15: 85,817,226 I1503T probably damaging Het
Pou2f2 C A 7: 25,092,700 E577* probably null Het
Prim2 G T 1: 33,512,160 H292Q probably damaging Het
Tg A G 15: 66,764,453 N630D probably benign Het
Trim80 A G 11: 115,447,664 N440S probably benign Het
Ttn T C 2: 76,936,402 S3111G probably damaging Het
Ubash3a A G 17: 31,228,186 T339A probably benign Het
Zbtb21 A C 16: 97,952,022 S354A probably damaging Het
Zfp335 T C 2: 164,894,776 T980A possibly damaging Het
Other mutations in Actb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1612:Actb UTSW 5 142905595 missense probably damaging 1.00
R4872:Actb UTSW 5 142905552 splice site probably benign
R5305:Actb UTSW 5 142904230 missense probably benign 0.27
R5424:Actb UTSW 5 142905551 splice site probably benign
R7329:Actb UTSW 5 142904391 missense probably benign 0.00
R7748:Actb UTSW 5 142904695 missense probably benign
Posted On2013-04-17