Incidental Mutation 'R6888:Actg1'
ID 537067
Institutional Source Beutler Lab
Gene Symbol Actg1
Ensembl Gene ENSMUSG00000062825
Gene Name actin, gamma, cytoplasmic 1
Synonyms E51, Actl
MMRRC Submission 044982-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6888 (G1)
Quality Score 215.009
Status Not validated
Chromosome 11
Chromosomal Location 120236513-120239321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120238141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 190 (Y190C)
Ref Sequence ENSEMBL: ENSMUSP00000134296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062147] [ENSMUST00000071555] [ENSMUST00000089616] [ENSMUST00000106215] [ENSMUST00000128055] [ENSMUST00000131103]
AlphaFold P63260
Predicted Effect probably benign
Transcript: ENSMUST00000062147
SMART Domains Protein: ENSMUSP00000101821
Gene: ENSMUSG00000062825

DomainStartEndE-ValueType
ACTIN 5 153 1.43e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000071555
AA Change: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071486
Gene: ENSMUSG00000062825
AA Change: Y133C

DomainStartEndE-ValueType
ACTIN 5 375 2.96e-244 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000089616
SMART Domains Protein: ENSMUSP00000087043
Gene: ENSMUSG00000062825

DomainStartEndE-ValueType
Pfam:Actin 1 84 3.8e-32 PFAM
Pfam:Actin 78 105 1.1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106215
AA Change: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101822
Gene: ENSMUSG00000062825
AA Change: Y133C

DomainStartEndE-ValueType
ACTIN 5 375 2.96e-244 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000128055
AA Change: Y190C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134296
Gene: ENSMUSG00000062825
AA Change: Y190C

DomainStartEndE-ValueType
ACTIN 62 268 6.73e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131103
SMART Domains Protein: ENSMUSP00000134070
Gene: ENSMUSG00000062825

DomainStartEndE-ValueType
Pfam:Actin 2 124 1.1e-48 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta, and gamma, have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice in which this gene has been conditionally disrupted in muscle tissue display a reduced mobility and classical hind limb contractures when suspended by the tail. Mice homozygous for a null allele exhibit prenatal lethality, premature death, and progressive hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,656,788 (GRCm39) I2902T probably damaging Het
AI429214 G A 8: 37,460,987 (GRCm39) G45D possibly damaging Het
Ambra1 A G 2: 91,599,372 (GRCm39) D164G probably damaging Het
Ap3b1 A T 13: 94,545,299 (GRCm39) Q184L probably benign Het
Arhgef17 T C 7: 100,580,027 (GRCm39) D307G possibly damaging Het
AY761185 A T 8: 21,434,571 (GRCm39) Y52* probably null Het
Bfsp1 A G 2: 143,668,639 (GRCm39) S647P probably benign Het
C130073F10Rik A G 4: 101,747,453 (GRCm39) V192A probably benign Het
Cacna1g T A 11: 94,350,033 (GRCm39) D604V probably benign Het
Ccdc170 T C 10: 4,496,854 (GRCm39) V458A possibly damaging Het
Ccdc187 G A 2: 26,179,746 (GRCm39) R238W probably damaging Het
Cdh1 A G 8: 107,384,946 (GRCm39) S380G probably benign Het
Cdk5rap3 T C 11: 96,807,018 (GRCm39) H4R probably benign Het
Cftr G A 6: 18,313,729 (GRCm39) probably null Het
Cstpp1 A G 2: 91,252,239 (GRCm39) Y41H probably damaging Het
Dnajc16 A G 4: 141,504,303 (GRCm39) V219A probably benign Het
Drd3 A T 16: 43,637,502 (GRCm39) I266F probably benign Het
Dut A G 2: 125,099,044 (GRCm39) D177G probably benign Het
Esr1 A G 10: 4,807,076 (GRCm39) I331V probably benign Het
Gm11110 A G 17: 57,409,143 (GRCm39) probably benign Het
Grm7 G T 6: 111,335,314 (GRCm39) G575V possibly damaging Het
Heatr3 A G 8: 88,897,512 (GRCm39) Y531C probably damaging Het
Igfn1 A G 1: 135,910,218 (GRCm39) V122A probably benign Het
Igsf21 T C 4: 139,762,054 (GRCm39) D208G probably benign Het
Kntc1 T C 5: 123,949,373 (GRCm39) Y1915H probably damaging Het
Lamc1 A T 1: 153,138,238 (GRCm39) D205E probably damaging Het
Limch1 C T 5: 67,179,269 (GRCm39) T713I probably benign Het
Lrp1b A G 2: 41,361,138 (GRCm39) I555T probably benign Het
Lrp2 A T 2: 69,354,485 (GRCm39) F448I probably damaging Het
Marchf6 T C 15: 31,459,379 (GRCm39) K896E probably benign Het
Mroh4 T C 15: 74,485,098 (GRCm39) Y469C possibly damaging Het
Niban3 G T 8: 72,056,383 (GRCm39) R361L probably benign Het
Nos3 T C 5: 24,588,333 (GRCm39) V1060A possibly damaging Het
Nr1h4 A G 10: 89,292,404 (GRCm39) I406T probably damaging Het
Odf2l T C 3: 144,854,379 (GRCm39) probably null Het
Or2y15 A T 11: 49,351,087 (GRCm39) T194S probably damaging Het
Or5d14 A G 2: 87,880,608 (GRCm39) M120T probably damaging Het
Pals2 T G 6: 50,157,257 (GRCm39) probably null Het
Pbx2 A G 17: 34,813,081 (GRCm39) Y119C possibly damaging Het
Pdcd6ip C A 9: 113,500,905 (GRCm39) A526S probably benign Het
Prx G A 7: 27,219,059 (GRCm39) D1187N possibly damaging Het
Ptpro G A 6: 137,357,198 (GRCm39) V230I probably benign Het
Rtn3 C T 19: 7,434,614 (GRCm39) M440I probably benign Het
Sar1b T C 11: 51,679,019 (GRCm39) I96T probably damaging Het
Sds T C 5: 120,618,965 (GRCm39) probably null Het
Secisbp2 A G 13: 51,833,977 (GRCm39) T706A probably benign Het
Sorcs3 A T 19: 48,682,263 (GRCm39) M433L possibly damaging Het
Sppl2a A G 2: 126,746,912 (GRCm39) V472A probably damaging Het
Tbc1d9 A G 8: 83,998,217 (GRCm39) E1258G possibly damaging Het
Tbxas1 C A 6: 38,929,008 (GRCm39) probably benign Het
Tg T C 15: 66,568,095 (GRCm39) I1333T probably damaging Het
Tmem108 C T 9: 103,376,915 (GRCm39) G178D probably damaging Het
Tmem174 A G 13: 98,773,569 (GRCm39) L87P probably damaging Het
Tmppe T A 9: 114,233,769 (GRCm39) S23T probably damaging Het
Ttn G A 2: 76,591,447 (GRCm39) T21074I probably benign Het
Tub A G 7: 108,628,505 (GRCm39) M338V probably null Het
Vmn1r160 A T 7: 22,571,531 (GRCm39) R295* probably null Het
Vps52 T C 17: 34,182,180 (GRCm39) V518A probably benign Het
Wdr59 A G 8: 112,177,675 (GRCm39) V909A probably benign Het
Wnk1 T C 6: 119,925,742 (GRCm39) T1241A probably benign Het
Zfp882 G A 8: 72,668,130 (GRCm39) C319Y probably benign Het
Znfx1 A T 2: 166,880,860 (GRCm39) I308N possibly damaging Het
Other mutations in Actg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0731:Actg1 UTSW 11 120,237,775 (GRCm39) missense probably damaging 1.00
R2015:Actg1 UTSW 11 120,237,636 (GRCm39) missense possibly damaging 0.95
R2860:Actg1 UTSW 11 120,237,627 (GRCm39) missense probably benign 0.03
R2861:Actg1 UTSW 11 120,237,627 (GRCm39) missense probably benign 0.03
R2862:Actg1 UTSW 11 120,237,627 (GRCm39) missense probably benign 0.03
R4473:Actg1 UTSW 11 120,239,085 (GRCm39) missense probably benign 0.01
R4732:Actg1 UTSW 11 120,238,305 (GRCm39) splice site probably benign
R5004:Actg1 UTSW 11 120,238,986 (GRCm39) intron probably benign
R5026:Actg1 UTSW 11 120,237,784 (GRCm39) missense probably damaging 1.00
R5060:Actg1 UTSW 11 120,237,839 (GRCm39) missense probably benign 0.10
R5216:Actg1 UTSW 11 120,238,580 (GRCm39) missense probably damaging 0.98
R6328:Actg1 UTSW 11 120,238,586 (GRCm39) missense possibly damaging 0.90
R6660:Actg1 UTSW 11 120,237,581 (GRCm39) missense probably damaging 1.00
R8461:Actg1 UTSW 11 120,239,010 (GRCm39) missense unknown
R8488:Actg1 UTSW 11 120,238,517 (GRCm39) missense possibly damaging 0.52
R9033:Actg1 UTSW 11 120,237,826 (GRCm39) missense probably benign 0.09
R9189:Actg1 UTSW 11 120,239,013 (GRCm39) missense unknown
Z1177:Actg1 UTSW 11 120,238,935 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGCAGTGGTGGTAAAGCTG -3'
(R):5'- AAGCCTCCAGGTTTCTGTTTG -3'

Sequencing Primer
(F):5'- TAAAGCTGTAGCCCCGTTCAG -3'
(R):5'- CCAGGTTTCTGTTTGCGTTTC -3'
Posted On 2018-10-18