Mutagenetix > Incidental Mutation

Incidental Mutation 'R9246:Cfl1'

701338

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 #

R9246 (G1)

Quality Score

124.008

Status

Not validated

Chromosome

Chromosomal Location

5540483-5544059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 5543634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 204 (G204R)

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

Domain	Start	End	E-Value	Type
Pfam:PX	24	165	1.4e-19	PFAM
Pfam:Vps5	183	394	9.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000116560
AA Change: G204R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112259
Gene: ENSMUSG00000056201
AA Change: G204R

Domain	Start	End	E-Value	Type
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: 99.9%
10x: 99.7%
20x: 98.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,279,961 (GRCm39)	T314I	probably benign	Het
Abca7	G	A	10: 79,838,535 (GRCm39)	S603N	probably damaging	Het
Abcc2	T	C	19: 43,786,882 (GRCm39)	F168L	probably benign	Het
Abcc8	T	C	7: 45,774,289 (GRCm39)	T764A	probably benign	Het
Acot4	A	C	12: 84,090,097 (GRCm39)	I265L	probably benign	Het
Adrb2	C	A	18: 62,312,226 (GRCm39)	A200S	probably damaging	Het
Atp2c2	G	T	8: 120,456,989 (GRCm39)	R197L	probably damaging	Het
Bmpr1a	T	C	14: 34,156,664 (GRCm39)	T121A	probably benign	Het
Brwd1	A	T	16: 95,804,016 (GRCm39)	S2051R	probably benign	Het
Card10	T	C	15: 78,673,036 (GRCm39)	E547G	possibly damaging	Het
Cbln1	A	T	8: 88,197,048 (GRCm39)	I139N	probably damaging	Het
Ccdc86	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	19: 10,926,162 (GRCm39)		probably benign	Het
Cdh16	C	T	8: 105,344,602 (GRCm39)	D510N	probably benign	Het
Cdh2	G	A	18: 16,781,654 (GRCm39)	Q146*	probably null	Het
Cdhr1	T	G	14: 36,801,654 (GRCm39)	K763T	possibly damaging	Het
Clcn6	A	T	4: 148,113,866 (GRCm39)	V64E	probably benign	Het
Col4a4	G	A	1: 82,430,956 (GRCm39)	P1649S	unknown	Het
Ctnna1	T	A	18: 35,356,562 (GRCm39)	N410K	probably benign	Het
Dhx34	A	G	7: 15,937,162 (GRCm39)	F845S	probably damaging	Het
Dnah7c	T	G	1: 46,571,934 (GRCm39)	N802K	possibly damaging	Het
Dnmt3a	T	C	12: 3,949,204 (GRCm39)	S492P	probably damaging	Het
Fhit	C	A	14: 10,421,494 (GRCm38)		probably null	Het
Fzd2	A	T	11: 102,496,749 (GRCm39)	I398F	possibly damaging	Het
Gm9195	A	G	14: 72,710,314 (GRCm39)	S457P	probably benign	Het
Gnao1	A	G	8: 94,676,967 (GRCm39)	K211E		Het
Gzme	T	C	14: 56,356,198 (GRCm39)	D100G	probably benign	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Hoxd4	G	A	2: 74,558,747 (GRCm39)	C190Y	possibly damaging	Het
Hr	T	A	14: 70,808,915 (GRCm39)	V1097E	probably damaging	Het
Iqca1l	T	G	5: 24,753,969 (GRCm39)	E430A	probably benign	Het
Kdm3b	A	T	18: 34,941,480 (GRCm39)	K524*	probably null	Het
Kif18a	A	G	2: 109,163,819 (GRCm39)	T723A	probably benign	Het
Kif1a	A	G	1: 93,005,501 (GRCm39)	V91A	probably damaging	Het
Krtap19-2	AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA	AAAGCCTCCA	16: 88,670,859 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,710,959 (GRCm39)	V1559M	probably damaging	Het
Maco1	A	G	4: 134,565,242 (GRCm39)	V47A	possibly damaging	Het
Msto1	A	T	3: 88,819,411 (GRCm39)	I160N	probably damaging	Het
Muc5ac	C	A	7: 141,364,215 (GRCm39)	Q2509K	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1ad8	T	A	11: 50,897,891 (GRCm39)	F31I	probably damaging	Het
Or2ag2b	C	T	7: 106,417,938 (GRCm39)	T216I	probably benign	Het
Or52ad1	C	T	7: 102,995,908 (GRCm39)	V76I	probably damaging	Het
Or7e170	T	C	9: 19,795,686 (GRCm39)		probably benign	Het
Or8k21	A	T	2: 86,145,222 (GRCm39)	M136K	probably damaging	Het
Pik3c3	C	A	18: 30,466,364 (GRCm39)	A805D	probably damaging	Het
Pnn	A	G	12: 59,116,929 (GRCm39)	Q167R	probably damaging	Het
Pogk	G	T	1: 166,226,380 (GRCm39)	H590Q	probably damaging	Het
Prkcd	A	G	14: 30,327,432 (GRCm39)	L251P	probably damaging	Het
Prrc1	T	A	18: 57,496,208 (GRCm39)	V53E	probably benign	Het
Ripor1	T	C	8: 106,345,522 (GRCm39)	F856S	unknown	Het
Rnf31	G	A	14: 55,833,698 (GRCm39)	A569T	probably benign	Het
Robo1	T	A	16: 72,769,178 (GRCm39)	D532E	probably benign	Het
Sh2d6	T	A	6: 72,497,594 (GRCm39)	K3*	probably null	Het
Slc22a27	T	C	19: 7,874,209 (GRCm39)	T289A	probably benign	Het
Speg	T	C	1: 75,361,498 (GRCm39)	S171P	probably damaging	Het
Stag1	T	A	9: 100,770,329 (GRCm39)	F622I	probably benign	Het
Stxbp1	T	C	2: 32,679,586 (GRCm39)	D589G	possibly damaging	Het
Syne1	T	C	10: 5,255,706 (GRCm39)	I2391M	probably benign	Het
Sytl2	A	G	7: 90,007,384 (GRCm39)	M49V	probably benign	Het
Tmem185b	T	C	1: 119,454,368 (GRCm39)	V43A	probably damaging	Het
Trappc8	A	T	18: 20,993,590 (GRCm39)	M499K	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,593 (GRCm39)	S159R	possibly damaging	Het
Vmn1r62	A	G	7: 5,678,628 (GRCm39)	Y103C	probably damaging	Het
Vmn1r65	C	T	7: 6,011,769 (GRCm39)	C155Y	possibly damaging	Het
Vmn2r112	G	A	17: 22,824,088 (GRCm39)	V448I	probably benign	Het
Zfp592	A	T	7: 80,691,529 (GRCm39)	D1236V	probably benign	Het
Zfp827	T	C	8: 79,803,132 (GRCm39)	V568A	possibly damaging	Het
Zscan4-ps3	A	T	7: 11,346,320 (GRCm39)	I147F	probably damaging	Het

Other mutations in Cfl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R9346:Cfl1	UTSW	19	5,543,641 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCCTGGCAGAGAAACTAGG -3'
(R):5'- TTAGAAGTTGGCAGCATGGG -3'

Sequencing Primer
(F):5'- AAACTAGGTGGCAGCGC -3'
(R):5'- CCCAAGAGGAATCAGAAGATC -3'

Posted On

2022-03-25