Incidental Mutation 'R7329:Actb'
ID 569105
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 045422-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7329 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 142888870-142892509 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142890146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 252 (N252S)
Ref Sequence ENSEMBL: ENSMUSP00000098066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100497] [ENSMUST00000106216] [ENSMUST00000163829] [ENSMUST00000167721] [ENSMUST00000171419]
AlphaFold P60710
Predicted Effect probably benign
Transcript: ENSMUST00000100497
AA Change: N252S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000098066
Gene: ENSMUSG00000029580
AA Change: N252S

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 possibly damaging
Transcript: ENSMUST00000167721
AA Change: N172S

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127663
Gene: ENSMUSG00000029580
AA Change: N172S

DomainStartEndE-ValueType
ACTIN 5 295 1.84e-149 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171419
AA Change: N252S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000130611
Gene: ENSMUSG00000029580
AA Change: N252S

DomainStartEndE-ValueType
ACTIN 5 265 3.43e-117 SMART
Meta Mutation Damage Score 0.1813 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (78/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 C A 15: 74,411,094 (GRCm39) T330K probably damaging Het
Ahnak A G 19: 8,979,156 (GRCm39) T147A probably damaging Het
Ankfy1 T C 11: 72,603,034 (GRCm39) V21A probably damaging Het
Arrdc4 T A 7: 68,390,775 (GRCm39) N322Y probably damaging Het
Bfsp2 C A 9: 103,327,121 (GRCm39) E205D probably benign Het
C2cd4b T A 9: 67,667,419 (GRCm39) S138R possibly damaging Het
Camkk1 C G 11: 72,917,873 (GRCm39) N147K probably damaging Het
Ckap2l T A 2: 129,127,284 (GRCm39) Q298L possibly damaging Het
Clstn2 G T 9: 97,343,422 (GRCm39) A675D probably benign Het
Cntnap2 G A 6: 47,248,205 (GRCm39) V1204M possibly damaging Het
Col4a1 C T 8: 11,276,494 (GRCm39) probably null Het
Ctrc T C 4: 141,571,022 (GRCm39) T73A probably benign Het
Cubn A G 2: 13,473,582 (GRCm39) F454L probably damaging Het
Cuedc1 A T 11: 88,060,692 (GRCm39) S12C unknown Het
Cyb561a3 G T 19: 10,565,268 (GRCm39) G211C probably damaging Het
D5Ertd579e A T 5: 36,773,739 (GRCm39) S219T probably benign Het
Dennd4c T A 4: 86,759,318 (GRCm39) Y1783N probably damaging Het
Dennd4c C T 4: 86,698,111 (GRCm39) P200S possibly damaging Het
Dnah6 G A 6: 73,121,705 (GRCm39) Q1426* probably null Het
Dync2h1 T G 9: 7,011,247 (GRCm39) T3649P probably benign Het
E2f8 T C 7: 48,521,858 (GRCm39) S415G probably damaging Het
Fbxo22 A G 9: 55,122,261 (GRCm39) I147V probably benign Het
Gclc A G 9: 77,683,473 (GRCm39) Y110C probably damaging Het
Gstm5 A G 3: 107,803,647 (GRCm39) T27A possibly damaging Het
Heatr4 A G 12: 84,024,856 (GRCm39) S322P probably benign Het
Htt T A 5: 34,987,099 (GRCm39) I1106N probably benign Het
Hunk T C 16: 90,183,570 (GRCm39) V76A probably benign Het
Igkv12-98 C T 6: 68,548,087 (GRCm39) T72I possibly damaging Het
Igkv9-123 A T 6: 67,931,629 (GRCm39) W16R possibly damaging Het
Ipo7 T C 7: 109,648,224 (GRCm39) L674S possibly damaging Het
Kcnh6 T C 11: 105,908,203 (GRCm39) F273S probably benign Het
Lamb3 C A 1: 193,002,848 (GRCm39) Q98K possibly damaging Het
Lingo4 A T 3: 94,310,162 (GRCm39) T367S probably benign Het
Lypd6b A T 2: 49,832,512 (GRCm39) I26F probably benign Het
Maneal T C 4: 124,750,512 (GRCm39) T415A probably benign Het
Mapk1ip1l A G 14: 47,547,920 (GRCm39) T23A unknown Het
Mrps17 T A 5: 129,793,705 (GRCm39) probably benign Het
Mup13 T G 4: 61,183,688 (GRCm39) D45A probably damaging Het
Mycbpap T A 11: 94,400,073 (GRCm39) D408V probably damaging Het
Myh10 A G 11: 68,701,017 (GRCm39) H1742R probably benign Het
Mylk4 A G 13: 32,900,766 (GRCm39) Y255H probably damaging Het
Nbeal1 A G 1: 60,256,355 (GRCm39) Q200R probably benign Het
Nkain2 TTTACTCGTT TTT 10: 32,765,892 (GRCm39) probably null Het
Olfm4 T C 14: 80,249,369 (GRCm39) V162A possibly damaging Het
Or1j15 A G 2: 36,458,708 (GRCm39) T33A probably benign Het
Or51a8 T C 7: 102,550,039 (GRCm39) L155P probably damaging Het
Or5w8 T C 2: 87,687,585 (GRCm39) V22A probably benign Het
Or8c11 C A 9: 38,289,456 (GRCm39) T87K probably benign Het
Ovol3 T A 7: 29,934,677 (GRCm39) R43S probably benign Het
Pcbp1 A G 6: 86,502,098 (GRCm39) V267A probably benign Het
Phf20 T A 2: 156,146,552 (GRCm39) V903E probably damaging Het
Pi4k2b T G 5: 52,914,211 (GRCm39) S316A probably benign Het
Pira1 G A 7: 3,742,875 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,617,743 (GRCm39) H947Q probably damaging Het
Ppip5k2 A C 1: 97,678,478 (GRCm39) probably null Het
Prkca T A 11: 107,905,103 (GRCm39) T212S possibly damaging Het
Psg16 A T 7: 16,824,611 (GRCm39) I41F possibly damaging Het
Rae1 T A 2: 172,851,238 (GRCm39) F204I probably benign Het
Rasef T A 4: 73,662,374 (GRCm39) N192I probably damaging Het
Rfc1 T A 5: 65,420,478 (GRCm39) R1122S unknown Het
Rfx2 A T 17: 57,110,681 (GRCm39) S102T probably benign Het
Sez6l A G 5: 112,588,773 (GRCm39) Y647H probably damaging Het
Siglecf A G 7: 43,001,395 (GRCm39) Y121C probably damaging Het
Slc27a5 T C 7: 12,725,089 (GRCm39) T453A possibly damaging Het
Slc44a2 G A 9: 21,254,048 (GRCm39) R171Q probably damaging Het
Slc4a9 A C 18: 36,673,874 (GRCm39) E889A possibly damaging Het
Snx31 C A 15: 36,555,621 (GRCm39) R13L probably benign Het
Spag6l A T 16: 16,584,883 (GRCm39) Y422N probably benign Het
Spmip5 T C 19: 58,777,654 (GRCm39) E52G probably damaging Het
Sulf2 T C 2: 165,959,008 (GRCm39) T67A probably damaging Het
Syne2 G A 12: 76,013,758 (GRCm39) R2983Q probably benign Het
Tmtc3 A G 10: 100,283,281 (GRCm39) I758T probably benign Het
Top2a T A 11: 98,895,072 (GRCm39) I843L possibly damaging Het
Tph1 T C 7: 46,306,285 (GRCm39) probably null Het
Trdmt1 A G 2: 13,520,933 (GRCm39) L323P probably damaging Het
Ush2a A T 1: 188,285,395 (GRCm39) E1977V probably damaging Het
Utp4 A G 8: 107,640,095 (GRCm39) E468G probably benign Het
Uts2r A G 11: 121,051,558 (GRCm39) T141A possibly damaging Het
Vmn1r230 A G 17: 21,066,952 (GRCm39) Y47C probably 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
R5424:Actb UTSW 5 142,891,306 (GRCm39) splice site probably benign
R7748:Actb UTSW 5 142,890,450 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGATGTCAACGTCACACTTCATG -3'
(R):5'- CCTCATGAAGATCCTGACCG -3'

Sequencing Primer
(F):5'- CGTCACACTTCATGATGGAATTG -3'
(R):5'- TGAAGATCCTGACCGAGCGTG -3'
Posted On 2019-09-13