Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02122:Foxk1'

280691

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Foxk1

Ensembl Gene

ENSMUSG00000056493

Gene Name

forkhead box K1

Synonyms

Mnf, A630048H08Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

IGL02122

Quality Score

Status

Chromosome

Chromosomal Location

142401497-142462011 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 142451429 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000072616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072837]

PDB Structure

Solution structure and Dynamics of DNA-Binding Domain of Myocyte Nuclear Factor [SOLUTION NMR]
Solution structure and Dynamics of the DNA-Binding Domain of Myocyte Nuclear Factor [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000072837

SMART Domains

Protein: ENSMUSP00000072616
Gene: ENSMUSG00000056493

Domain	Start	End	E-Value	Type
low complexity region	10	17	N/A	INTRINSIC
low complexity region	19	84	N/A	INTRINSIC
FHA	108	161	1.14e-9	SMART
low complexity region	261	281	N/A	INTRINSIC
FH	289	380	1.31e-50	SMART
Blast:FH	402	458	8e-28	BLAST
low complexity region	627	642	N/A	INTRINSIC
low complexity region	652	687	N/A	INTRINSIC
low complexity region	696	713	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are runted and exhibit a reduced myogenic progenitor cell population with impaired cell cycle progression (G0/G1 arrest) and decreased proliferative capacity that results in severe impairment of skeletal muscle regeneration following injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,170,525	T756I	possibly damaging	Het
Abi3bp	T	C	16: 56,687,128		probably benign	Het
Adcy5	G	A	16: 35,283,612		probably benign	Het
Adcy6	T	A	15: 98,598,882	H504L	possibly damaging	Het
Ank2	A	G	3: 126,937,874		probably benign	Het
Atxn2	A	G	5: 121,778,030	D34G	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Carmil1	T	C	13: 24,036,558	E657G	possibly damaging	Het
Cdc25c	T	C	18: 34,743,985	I212V	probably benign	Het
Chl1	A	G	6: 103,675,137	D338G	probably benign	Het
Cog6	T	C	3: 52,998,342	I361V	probably benign	Het
Dip2c	T	C	13: 9,506,659	S80P	possibly damaging	Het
Dmrtc2	A	T	7: 24,872,583	R34S	possibly damaging	Het
Exph5	A	G	9: 53,373,674	N685S	probably benign	Het
Flnc	A	T	6: 29,444,336	I684L	possibly damaging	Het
Gprc6a	T	C	10: 51,626,723	N348S	probably benign	Het
Gspt1	T	C	16: 11,229,216	K445R	probably damaging	Het
Hace1	T	C	10: 45,618,604	V170A	probably damaging	Het
Hydin	T	C	8: 110,494,415	I1481T	possibly damaging	Het
Ighv4-1	A	T	12: 113,948,525	L36Q	possibly damaging	Het
Ints1	G	A	5: 139,765,150	Q833*	probably null	Het
Myo15	T	C	11: 60,483,466	F96L	probably benign	Het
Myom1	G	T	17: 71,092,137	R998L	probably damaging	Het
Nacc2	A	G	2: 26,089,948	S159P	probably benign	Het
Olfr1128	A	G	2: 87,545,103	V147A	probably benign	Het
Olfr178	T	C	16: 58,889,771	T150A	probably benign	Het
Olfr873	T	A	9: 20,300,584	L128Q	probably damaging	Het
Pbrm1	A	G	14: 31,089,616	I1197V	probably damaging	Het
Pde4dip	G	A	3: 97,767,421	R60C	probably damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Pitpnm1	T	C	19: 4,107,796	Y499H	probably damaging	Het
Plekhn1	C	T	4: 156,223,856		probably null	Het
Prmt8	A	G	6: 127,690,717	Y332H	probably benign	Het
Prpf38a	A	G	4: 108,579,041	I25T	possibly damaging	Het
Rpf1	T	C	3: 146,521,267	K44E	probably benign	Het
Rusc2	T	C	4: 43,421,685	F702L	possibly damaging	Het
Ryr2	A	T	13: 11,741,869	I1633K	probably damaging	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Tkt	T	C	14: 30,571,201	V510A	possibly damaging	Het
Tmem106a	C	A	11: 101,590,414	N249K	probably damaging	Het
Tmpo	A	T	10: 91,164,136	S157T	possibly damaging	Het
Tspan32	A	T	7: 143,015,635	I144F	probably damaging	Het
Ufsp2	G	A	8: 45,995,648	V429I	probably benign	Het
Unc13c	T	A	9: 73,734,397		probably benign	Het
Usp47	A	T	7: 112,106,908	K1259M	probably damaging	Het
Zdhhc18	A	T	4: 133,613,635		probably benign	Het
Zfp507	G	T	7: 35,776,095	L898I	probably damaging	Het

Other mutations in Foxk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Foxk1	APN	5	142453589	missense	probably damaging	0.99
IGL02686:Foxk1	APN	5	142453585	missense	probably damaging	0.99
R0027:Foxk1	UTSW	5	142450340	missense	probably damaging	1.00
R0217:Foxk1	UTSW	5	142401894	missense	possibly damaging	0.93
R0256:Foxk1	UTSW	5	142453681	splice site	probably benign
R0481:Foxk1	UTSW	5	142448823	missense	probably benign	0.09
R1941:Foxk1	UTSW	5	142456674	missense	possibly damaging	0.67
R2128:Foxk1	UTSW	5	142435188	nonsense	probably null
R2129:Foxk1	UTSW	5	142435188	nonsense	probably null
R2356:Foxk1	UTSW	5	142455409	missense	possibly damaging	0.93
R5156:Foxk1	UTSW	5	142448833	missense	possibly damaging	0.88
R5958:Foxk1	UTSW	5	142456674	missense	probably benign	0.06
R7686:Foxk1	UTSW	5	142401870	missense	probably damaging	0.99
R8141:Foxk1	UTSW	5	142453961	missense	probably damaging	1.00
R8406:Foxk1	UTSW	5	142401773	missense	unknown
R8433:Foxk1	UTSW	5	142448784	missense	probably benign	0.00

Posted On

2015-04-16