Incidental Mutation 'IGL01020:Cfl1'
ID 54100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfl1
Ensembl Gene ENSMUSG00000056201
Gene Name cofilin 1, non-muscle
Synonyms cofilin, n-cofilin, Cof
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01020
Quality Score
Status
Chromosome 19
Chromosomal Location 5540483-5544059 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) C to T at 5543709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070172] [ENSMUST00000116560] [ENSMUST00000209469]
AlphaFold P18760
Predicted Effect probably benign
Transcript: ENSMUST00000070172
SMART Domains Protein: ENSMUSP00000070915
Gene: ENSMUSG00000056185

DomainStartEndE-ValueType
Pfam:PX 24 165 1.4e-19 PFAM
Pfam:Vps5 183 394 9.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116560
SMART Domains Protein: ENSMUSP00000112259
Gene: ENSMUSG00000056201

DomainStartEndE-ValueType
ADF 19 154 5.3e-56 SMART
low complexity region 195 205 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209469
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin cytoskeleton. Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous null mice display embryonic lethality with impaired neural crest cell migration, an open neural tube, and abnormal somite and eye development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 T G 1: 176,958,533 (GRCm39) probably benign Het
Aldh18a1 C T 19: 40,557,625 (GRCm39) probably benign Het
Arhgap32 A G 9: 32,168,657 (GRCm39) H880R probably benign Het
Arhgef7 G A 8: 11,832,540 (GRCm39) S5N probably damaging Het
Atp6v1e1 T C 6: 120,785,372 (GRCm39) M40V possibly damaging Het
Atr T C 9: 95,744,836 (GRCm39) V51A probably damaging Het
Atxn10 A G 15: 85,259,623 (GRCm39) probably null Het
Btbd16 T A 7: 130,426,091 (GRCm39) I502N probably damaging Het
Celsr2 G T 3: 108,310,586 (GRCm39) L1499M probably damaging Het
Cul9 T C 17: 46,849,949 (GRCm39) E500G probably damaging Het
Dusp3 G T 11: 101,875,470 (GRCm39) N31K probably benign Het
Erbb4 A T 1: 68,337,608 (GRCm39) probably benign Het
Fam234b G A 6: 135,188,904 (GRCm39) V170M probably benign Het
Fign A G 2: 63,809,354 (GRCm39) S639P probably damaging Het
Gbp7 A G 3: 142,248,618 (GRCm39) T294A probably benign Het
Golm2 G A 2: 121,756,203 (GRCm39) V411I probably benign Het
Ift80 C T 3: 68,871,012 (GRCm39) D195N probably damaging Het
Kif21b G T 1: 136,081,832 (GRCm39) probably benign Het
Kif2c A T 4: 117,024,101 (GRCm39) F397I probably damaging Het
Lamc3 T C 2: 31,804,668 (GRCm39) V567A probably benign Het
Letmd1 T C 15: 100,369,640 (GRCm39) M36T probably damaging Het
Lrp1b A G 2: 40,888,259 (GRCm39) W2220R probably damaging Het
Mical2 T A 7: 111,914,283 (GRCm39) probably benign Het
Mtif2 A G 11: 29,494,973 (GRCm39) D691G possibly damaging Het
Myh8 G A 11: 67,174,229 (GRCm39) V189M probably damaging Het
Myo9b G A 8: 71,804,644 (GRCm39) R1418K probably benign Het
Nkpd1 G A 7: 19,252,674 (GRCm39) V7M possibly damaging Het
Nrxn2 G A 19: 6,543,473 (GRCm39) V1116I probably benign Het
Nynrin A G 14: 56,105,905 (GRCm39) M875V probably benign Het
Oat T C 7: 132,168,902 (GRCm39) probably null Het
Or7g35 G A 9: 19,496,616 (GRCm39) S261N possibly damaging Het
Or8g24 A C 9: 38,989,747 (GRCm39) I98R probably damaging Het
Prkaa2 C T 4: 104,932,659 (GRCm39) R63Q probably damaging Het
Psg29 T A 7: 16,942,657 (GRCm39) S219R probably benign Het
Ptprc T C 1: 138,047,911 (GRCm39) probably null Het
Pwwp2b G T 7: 138,834,771 (GRCm39) E71* probably null Het
Robo2 T C 16: 73,725,039 (GRCm39) T1055A probably benign Het
Serpina9 T A 12: 103,974,845 (GRCm39) N103Y probably damaging Het
Sis T C 3: 72,874,171 (GRCm39) E10G probably damaging Het
Tbck C T 3: 132,432,903 (GRCm39) Q438* probably null Het
Thnsl1 T C 2: 21,217,305 (GRCm39) L353S probably damaging Het
Tmem237 C A 1: 59,146,612 (GRCm39) probably null Het
Tuba3a C T 6: 125,258,303 (GRCm39) R229H probably damaging Het
Zbtb2 A G 10: 4,319,702 (GRCm39) I108T probably benign Het
Zfp345 T C 2: 150,314,967 (GRCm39) N190S possibly damaging Het
Other mutations in Cfl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02903:Cfl1 APN 19 5,542,828 (GRCm39) missense probably benign 0.03
R1657:Cfl1 UTSW 19 5,543,583 (GRCm39) missense probably damaging 0.99
R4041:Cfl1 UTSW 19 5,542,556 (GRCm39) missense probably benign 0.17
R5193:Cfl1 UTSW 19 5,542,580 (GRCm39) missense probably damaging 1.00
R5449:Cfl1 UTSW 19 5,543,521 (GRCm39) makesense probably null
R6981:Cfl1 UTSW 19 5,542,644 (GRCm39) missense possibly damaging 0.60
R7287:Cfl1 UTSW 19 5,542,562 (GRCm39) missense probably benign 0.25
R8163:Cfl1 UTSW 19 5,543,528 (GRCm39) critical splice donor site probably benign
R9246:Cfl1 UTSW 19 5,543,634 (GRCm39) missense probably damaging 1.00
R9346:Cfl1 UTSW 19 5,543,641 (GRCm39) missense probably benign
Posted On 2013-06-28