Incidental Mutation 'R9346:Cfl1'
ID 707827
Institutional Source Beutler Lab
Gene Symbol Cfl1
Ensembl Gene ENSMUSG00000056201
Gene Name cofilin 1, non-muscle
Synonyms cofilin, n-cofilin, Cof
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9346 (G1)
Quality Score 182.009
Status Validated
Chromosome 19
Chromosomal Location 5540483-5544059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5543641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 206 (L206Q)
Ref Sequence ENSEMBL: ENSMUSP00000112259 (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
AA Change: L206Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112259
Gene: ENSMUSG00000056201
AA Change: L206Q

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (45/45)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G T 11: 58,179,095 (GRCm39) C143F Het
Adam8 T C 7: 139,567,634 (GRCm39) I370V probably benign Het
Adamts1 T A 16: 85,599,420 (GRCm39) D60V possibly damaging Het
Adh5 G A 3: 138,157,203 (GRCm39) V255I probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Arid2 T C 15: 96,185,792 (GRCm39) I37T probably benign Het
Arnt2 C T 7: 83,931,321 (GRCm39) R383Q probably benign Het
Arrb1 T A 7: 99,242,207 (GRCm39) Y238* probably null Het
Brdt T C 5: 107,524,880 (GRCm39) I807T probably damaging Het
Cacna1d T A 14: 29,818,880 (GRCm39) Q1247L possibly damaging Het
Carmil3 T C 14: 55,732,141 (GRCm39) Y213H probably damaging Het
Ccdc180 A T 4: 45,927,953 (GRCm39) T1163S probably benign Het
Chga A G 12: 102,525,548 (GRCm39) D63G probably damaging Het
Dennd1a T C 2: 37,911,447 (GRCm39) D180G probably benign Het
Dop1b T C 16: 93,577,702 (GRCm39) probably null Het
Fam171a2 C T 11: 102,328,771 (GRCm39) V663M possibly damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Gimap9 C A 6: 48,654,492 (GRCm39) N26K probably damaging Het
Gtf2i A G 5: 134,273,663 (GRCm39) F769L probably damaging Het
Gtf2i G T 5: 134,315,781 (GRCm39) H164N probably benign Het
Ino80 G A 2: 119,257,439 (GRCm39) T797I possibly damaging Het
Kcnma1 T C 14: 23,700,233 (GRCm39) S188G possibly damaging Het
Krt82 A G 15: 101,458,959 (GRCm39) M27T probably benign Het
Ncam2 A G 16: 81,252,204 (GRCm39) K216E probably benign Het
Nynrin A G 14: 56,100,495 (GRCm39) Q95R probably benign Het
Or1e1c T C 11: 73,266,129 (GRCm39) S188P probably benign Het
Or4c102 T A 2: 88,423,062 (GRCm39) S305T probably benign Het
Pon1 C A 6: 5,193,722 (GRCm39) V10L probably benign Het
Ptk2b T A 14: 66,415,541 (GRCm39) N252Y possibly damaging Het
Rad51 G A 2: 118,949,093 (GRCm39) C31Y probably benign Het
Sbf2 A G 7: 109,919,946 (GRCm39) F1525L probably benign Het
Sec11a T C 7: 80,557,760 (GRCm39) D173G unknown Het
Sftpd C T 14: 40,896,466 (GRCm39) R239H probably benign Het
Shq1 T A 6: 100,641,431 (GRCm39) Y150F probably damaging Het
Slc39a11 A G 11: 113,414,449 (GRCm39) V50A probably damaging Het
Snrnp25 A T 11: 32,155,622 (GRCm39) M1L probably benign Het
Tgm6 A T 2: 129,983,776 (GRCm39) K312* probably null Het
Tln1 C A 4: 43,546,895 (GRCm39) R827L probably damaging Het
Trim37 A T 11: 87,057,426 (GRCm39) probably null Het
Zdhhc13 T A 7: 48,472,328 (GRCm39) N495K probably benign Het
Zfp280b C T 10: 75,875,126 (GRCm39) T335I possibly damaging Het
Zfp583 T A 7: 6,328,542 (GRCm39) T16S probably benign Het
Zgpat C A 2: 181,021,844 (GRCm39) D423E probably benign Het
Other mutations in Cfl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Cfl1 APN 19 5,543,709 (GRCm39) utr 3 prime probably benign
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
Predicted Primers PCR Primer
(F):5'- CCTGGCAGAGAAACTAGGTG -3'
(R):5'- TTAGAAGTTGGCAGCATGGG -3'

Sequencing Primer
(F):5'- GGCAGCGCCGTCATTTC -3'
(R):5'- GTCAACCCAAGAGGAATCA -3'
Posted On 2022-04-18