Incidental Mutation 'R5424:Actb'
ID 426753
Institutional Source Beutler Lab
Gene Symbol Actb
Ensembl Gene ENSMUSG00000029580
Gene Name actin, beta
Synonyms A-X actin-like protein, beta-actin, Actx, E430023M04Rik
MMRRC Submission 042990-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5424 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 142888870-142892509 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 142891306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100497] [ENSMUST00000106216] [ENSMUST00000163829] [ENSMUST00000167721] [ENSMUST00000171419]
AlphaFold P60710
Predicted Effect probably benign
Transcript: ENSMUST00000100497
SMART Domains Protein: ENSMUSP00000098066
Gene: ENSMUSG00000029580

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 probably benign
Transcript: ENSMUST00000167721
SMART Domains Protein: ENSMUSP00000127663
Gene: ENSMUSG00000029580

DomainStartEndE-ValueType
ACTIN 5 295 1.84e-149 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171419
SMART Domains Protein: ENSMUSP00000130611
Gene: ENSMUSG00000029580

DomainStartEndE-ValueType
ACTIN 5 265 3.43e-117 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196997
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (59/59)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,670,678 (GRCm39) A300D probably damaging Het
Abca14 T C 7: 119,810,777 (GRCm39) Y119H probably benign Het
Ada T A 2: 163,570,045 (GRCm39) K323* probably null Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Aire A T 10: 77,872,553 (GRCm39) V355E probably damaging Het
Atp8a1 T C 5: 67,969,443 (GRCm39) I117M probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Clca3a2 A G 3: 144,789,942 (GRCm39) F465L probably damaging Het
Cpne8 T A 15: 90,400,260 (GRCm39) M345L probably benign Het
Ddx54 T C 5: 120,757,926 (GRCm39) probably null Het
Dnah14 T G 1: 181,590,875 (GRCm39) M3256R possibly damaging Het
Epha2 T A 4: 141,046,251 (GRCm39) Y483* probably null Het
Ermard T A 17: 15,280,032 (GRCm39) S509T possibly damaging Het
Fam186a G T 15: 99,843,644 (GRCm39) H867N unknown Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gas8 C A 8: 124,253,251 (GRCm39) L200I possibly damaging Het
Gfra2 A T 14: 71,133,287 (GRCm39) D39V probably damaging Het
Gm10770 T C 2: 150,020,948 (GRCm39) T190A probably benign Het
Gm2617 T C 19: 9,301,320 (GRCm39) noncoding transcript Het
Gm5592 C T 7: 40,805,017 (GRCm39) probably benign Het
Gmppb T A 9: 107,929,204 (GRCm39) probably null Het
Ifit2 T A 19: 34,551,458 (GRCm39) C333S probably benign Het
Ighg2b T C 12: 113,271,550 (GRCm39) K1R unknown Het
Impdh2-ps G T 8: 100,758,141 (GRCm39) noncoding transcript Het
Kdelr2 A C 5: 143,403,899 (GRCm39) E96A probably benign Het
Lama2 G A 10: 26,860,392 (GRCm39) R3032C probably damaging Het
Lipg T A 18: 75,087,324 (GRCm39) I166F probably damaging Het
Lrrc8b T C 5: 105,628,569 (GRCm39) V305A probably damaging Het
Marveld2 T C 13: 100,748,695 (GRCm39) H128R probably benign Het
Mgat4a A G 1: 37,505,636 (GRCm39) V189A probably benign Het
Mroh2b A T 15: 4,971,094 (GRCm39) E1033V probably damaging Het
Mtmr7 A G 8: 41,059,873 (GRCm39) V80A probably benign Het
Ndrg2 A G 14: 52,146,342 (GRCm39) S153P probably damaging Het
Nelfa C T 5: 34,079,189 (GRCm39) probably null Het
Nes G T 3: 87,886,131 (GRCm39) E1419D possibly damaging Het
Nipa1 C A 7: 55,629,223 (GRCm39) V297L possibly damaging Het
Obox5 T A 7: 15,492,807 (GRCm39) I254K probably benign Het
Or56b35 T C 7: 104,963,778 (GRCm39) V189A possibly damaging Het
Or8k24 G A 2: 86,216,184 (GRCm39) Q193* probably null Het
Pcdhga7 G A 18: 37,848,388 (GRCm39) A132T probably benign Het
Pla1a T A 16: 38,235,137 (GRCm39) I186F probably damaging Het
Plscr4 T A 9: 92,372,075 (GRCm39) M282K possibly damaging Het
Rpl22l1 T C 3: 28,861,047 (GRCm39) probably benign Het
Scn5a T C 9: 119,330,800 (GRCm39) D1246G probably damaging Het
Senp7 A G 16: 56,006,471 (GRCm39) S932G possibly damaging Het
Slc51a C A 16: 32,297,565 (GRCm39) A111S probably benign Het
Srcin1 T A 11: 97,427,885 (GRCm39) K236* probably null Het
Tbxas1 A G 6: 39,004,839 (GRCm39) D362G possibly damaging Het
Tcl1b5 T C 12: 105,146,275 (GRCm39) I116T possibly damaging Het
Tgm7 T A 2: 120,929,522 (GRCm39) M251L probably damaging Het
Tnn T A 1: 159,950,272 (GRCm39) Q778L possibly damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Zfp622 T C 15: 25,984,855 (GRCm39) C74R probably damaging Het
Zfp646 C A 7: 127,481,875 (GRCm39) H1351N possibly damaging Het
Other mutations in Actb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Actb APN 5 142,890,191 (GRCm39) missense probably damaging 0.97
Cricket UTSW 5 142,889,985 (GRCm39) missense probably benign 0.27
Mormon UTSW 5 142,890,146 (GRCm39) missense probably benign 0.00
R1612:Actb UTSW 5 142,891,350 (GRCm39) missense probably damaging 1.00
R4872:Actb UTSW 5 142,891,307 (GRCm39) splice site probably benign
R5305:Actb UTSW 5 142,889,985 (GRCm39) missense probably benign 0.27
R7329:Actb UTSW 5 142,890,146 (GRCm39) missense probably benign 0.00
R7748:Actb UTSW 5 142,890,450 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACACGCAGCTCATTGTAGAAG -3'
(R):5'- CGAGGTGACTATAGCCTTCTTTTG -3'

Sequencing Primer
(F):5'- ATGTCGTCCCAGTTGGTAAC -3'
(R):5'- GTGTCTTGATAGTTCGCCATG -3'
Posted On 2016-09-01