Incidental Mutation 'R1612:Actb'
ID 176860
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 039649-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1612 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 142888870-142892509 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142891350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 31 (F31S)
Ref Sequence ENSEMBL: ENSMUSP00000098066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100497] [ENSMUST00000106216] [ENSMUST00000163829] [ENSMUST00000167721] [ENSMUST00000171419]
AlphaFold P60710
Predicted Effect probably damaging
Transcript: ENSMUST00000100497
AA Change: F31S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098066
Gene: ENSMUSG00000029580
AA Change: F31S

DomainStartEndE-ValueType
ACTIN 5 375 1.67e-243 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106216
AA Change: F34S

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101823
Gene: ENSMUSG00000029580
AA Change: F34S

DomainStartEndE-ValueType
ACTIN 8 150 8.66e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163829
AA Change: F31S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132135
Gene: ENSMUSG00000029580
AA Change: F31S

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: F31S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127663
Gene: ENSMUSG00000029580
AA Change: F31S

DomainStartEndE-ValueType
ACTIN 5 295 1.84e-149 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171419
AA Change: F31S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130611
Gene: ENSMUSG00000029580
AA Change: F31S

DomainStartEndE-ValueType
ACTIN 5 265 3.43e-117 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196997
Meta Mutation Damage Score 0.9622 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (69/71)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik A G 3: 79,538,451 (GRCm39) T66A probably benign Het
Adamts7 T C 9: 90,070,750 (GRCm39) S624P possibly damaging Het
Adh7 T C 3: 137,934,642 (GRCm39) I355T possibly damaging Het
Arhgef40 A G 14: 52,241,538 (GRCm39) E106G probably damaging Het
Brd10 A G 19: 29,695,245 (GRCm39) V1483A possibly damaging Het
Cabp7 T C 11: 4,689,198 (GRCm39) D149G probably damaging Het
Cass4 A T 2: 172,268,998 (GRCm39) Q362L possibly damaging Het
Cd14 G A 18: 36,858,718 (GRCm39) Q246* probably null Het
Cdr2l A C 11: 115,284,232 (GRCm39) E189D probably benign Het
Col6a6 A G 9: 105,654,748 (GRCm39) V991A probably damaging Het
Coq7 A G 7: 118,109,134 (GRCm39) W305R unknown Het
Cracr2a G T 6: 127,580,892 (GRCm39) G23* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Epcam T C 17: 87,947,366 (GRCm39) L40P possibly damaging Het
Eps8 G A 6: 137,477,616 (GRCm39) P531S probably benign Het
Faap100 C A 11: 120,267,914 (GRCm39) L286F probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbn2 A T 18: 58,194,824 (GRCm39) C1446S probably damaging Het
Fmo3 A G 1: 162,795,454 (GRCm39) V127A probably damaging Het
Frem3 A G 8: 81,341,490 (GRCm39) D1261G probably damaging Het
Gabbr1 A G 17: 37,381,561 (GRCm39) Y775C probably damaging Het
Gbp11 G T 5: 105,474,462 (GRCm39) Q405K possibly damaging Het
Gdi2 T A 13: 3,610,051 (GRCm39) V260E probably benign Het
Glp2r C T 11: 67,633,033 (GRCm39) V98M possibly damaging Het
Gm13741 T C 2: 87,486,431 (GRCm39) Y278C probably damaging Het
Gm7732 G A 17: 21,350,177 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,264,344 (GRCm39) probably null Het
Hbs1l T G 10: 21,234,734 (GRCm39) F596V probably damaging Het
Krt78 A T 15: 101,860,279 (GRCm39) probably null Het
Krt87 A T 15: 101,386,092 (GRCm39) L223Q probably benign Het
Lcmt2 T C 2: 120,969,601 (GRCm39) Y274C probably damaging Het
Limd1 A G 9: 123,347,219 (GRCm39) Y620C probably damaging Het
Lvrn G T 18: 47,027,770 (GRCm39) A862S probably damaging Het
Map4k2 A G 19: 6,393,371 (GRCm39) E206G probably damaging Het
Med16 A G 10: 79,735,079 (GRCm39) S461P probably damaging Het
Mrfap1 C A 5: 36,953,706 (GRCm39) A78S probably damaging Het
Nav2 T A 7: 49,220,959 (GRCm39) N1715K probably damaging Het
Ndc1 A G 4: 107,252,265 (GRCm39) probably benign Het
Ngly1 G T 14: 16,290,867 (GRCm38) G450* probably null Het
Or13c25 T A 4: 52,911,501 (GRCm39) M98L probably benign Het
Or5k3 T C 16: 58,969,987 (GRCm39) M258T probably benign Het
Pde3b T A 7: 114,118,791 (GRCm39) Y643* probably null Het
Pdilt T G 7: 119,086,198 (GRCm39) N506H possibly damaging Het
Pear1 C T 3: 87,659,160 (GRCm39) probably null Het
Pfkp A T 13: 6,638,625 (GRCm39) M582K probably damaging Het
Pigl T A 11: 62,403,820 (GRCm39) F251I probably benign Het
Plk3 A G 4: 116,989,004 (GRCm39) Y252H probably damaging Het
Prdx3 A G 19: 60,862,872 (GRCm39) S12P possibly damaging Het
Prkag2 T C 5: 25,082,026 (GRCm39) I96V probably benign Het
Pwwp3a T A 10: 80,068,889 (GRCm39) probably benign Het
Rgs3 G A 4: 62,544,172 (GRCm39) V146M probably damaging Het
Serpinh1 T C 7: 98,998,138 (GRCm39) D164G probably damaging Het
Slc35d2 T C 13: 64,259,324 (GRCm39) probably benign Het
Slc6a6 A G 6: 91,718,008 (GRCm39) N316D probably damaging Het
Snx14 A T 9: 88,258,958 (GRCm39) M973K possibly damaging Het
Sptan1 C G 2: 29,893,348 (GRCm39) R1126G probably damaging Het
Stpg3 T C 2: 25,103,866 (GRCm39) T157A probably benign Het
Tmem39b A T 4: 129,580,715 (GRCm39) M259K possibly damaging Het
Tomm40l A T 1: 171,049,471 (GRCm39) probably null Het
Tsen34 G T 7: 3,698,395 (GRCm39) G180W probably damaging Het
Ube2l6 C T 2: 84,636,717 (GRCm39) R54W probably damaging Het
Vdac1 A T 11: 52,274,897 (GRCm39) T182S probably benign Het
Wdr3 T C 3: 100,058,515 (GRCm39) probably benign Het
Wsb1 T A 11: 79,139,411 (GRCm39) Q95L probably benign 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
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
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'- ACCCACATAGGAGTCCTTCTGACC -3'
(R):5'- TCTATCACTGGGCATCGAGGCG -3'

Sequencing Primer
(F):5'- ATAGGAGTCCTTCTGACCCATTC -3'
(R):5'- CGTTTGCCTTTTATGGTAATAATGC -3'
Posted On 2014-04-24