Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01331:Foxk1'

74508

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Foxk1

Ensembl Gene

ENSMUSG00000056493

Gene Name

forkhead box K1

Synonyms

A630048H08Rik, Mnf

Accession Numbers

Essential gene?

Probably essential (E-score: 0.767) question?

Stock #

IGL01331

Quality Score

Status

Chromosome

Chromosomal Location

142387252-142447766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142439344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 428 (R428Q)

Ref Sequence

ENSEMBL: ENSMUSP00000072616 (fasta)

Gene Model

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

AlphaFold

P42128

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 damaging
Transcript: ENSMUST00000072837
AA Change: R428Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072616
Gene: ENSMUSG00000056493
AA Change: R428Q

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clca3a1	G	A	3: 144,453,273 (GRCm39)	T517M	probably damaging	Het
Clec4g	T	C	8: 3,767,190 (GRCm39)		probably benign	Het
Cmya5	C	T	13: 93,233,454 (GRCm39)	E545K	possibly damaging	Het
Cntn6	A	T	6: 104,751,484 (GRCm39)	D380V	probably damaging	Het
Col9a2	C	T	4: 120,902,389 (GRCm39)	P209S	possibly damaging	Het
Cyp2b9	T	C	7: 25,887,140 (GRCm39)	V183A	probably damaging	Het
Dpt	T	C	1: 164,624,379 (GRCm39)	Y27H	unknown	Het
Dusp16	T	C	6: 134,695,067 (GRCm39)	Q588R	possibly damaging	Het
Emg1	A	G	6: 124,682,033 (GRCm39)	S164P	probably benign	Het
Frmd4a	T	A	2: 4,607,036 (GRCm39)	M667K	probably benign	Het
Gpr55	T	A	1: 85,868,915 (GRCm39)		probably benign	Het
Gtpbp8	A	G	16: 44,560,494 (GRCm39)	I162T	probably benign	Het
Ighv1-59	C	T	12: 115,298,992 (GRCm39)	V21I	possibly damaging	Het
Ipo11	T	A	13: 106,932,254 (GRCm39)	Y938F	possibly damaging	Het
Map4	G	T	9: 109,863,869 (GRCm39)	V365L	probably benign	Het
Mboat1	C	A	13: 30,403,684 (GRCm39)		probably benign	Het
Med12	A	G	X: 100,324,360 (GRCm39)	E649G	possibly damaging	Het
Nfkbie	T	C	17: 45,869,495 (GRCm39)	V150A	probably benign	Het
Or51ai2	A	G	7: 103,586,782 (GRCm39)	Y65C	possibly damaging	Het
Or8k22	A	C	2: 86,163,048 (GRCm39)	Y217*	probably null	Het
Prdm1	T	A	10: 44,317,970 (GRCm39)	K299N	possibly damaging	Het
Ribc1	T	C	X: 150,788,102 (GRCm39)	T291A	probably benign	Het
Rps6kc1	G	T	1: 190,532,549 (GRCm39)	N484K	possibly damaging	Het
Serpina3k	C	A	12: 104,309,369 (GRCm39)	A271D	probably benign	Het
Spata18	G	T	5: 73,827,024 (GRCm39)	R321L	probably damaging	Het
Styxl2	C	A	1: 165,935,749 (GRCm39)	V150L	probably damaging	Het
Syne2	C	A	12: 75,976,027 (GRCm39)		probably benign	Het
Syt17	T	A	7: 118,007,389 (GRCm39)	I302F	probably damaging	Het
Tgm6	A	G	2: 129,985,538 (GRCm39)		probably null	Het
Tmc2	A	G	2: 130,074,276 (GRCm39)	Y323C	probably damaging	Het
Tnc	T	C	4: 63,901,112 (GRCm39)	D1452G	probably damaging	Het
Ttn	A	G	2: 76,620,022 (GRCm39)	I7555T	probably damaging	Het
Ugt2b36	A	T	5: 87,238,801 (GRCm39)	W131R	probably damaging	Het
Vmn2r75	A	T	7: 85,820,870 (GRCm39)	C21*	probably null	Het
Zfp592	T	A	7: 80,691,296 (GRCm39)	C1158*	probably null	Het

Other mutations in Foxk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02122:Foxk1	APN	5	142,437,184 (GRCm39)	splice site	probably benign
IGL02686:Foxk1	APN	5	142,439,340 (GRCm39)	missense	probably damaging	0.99
R0027:Foxk1	UTSW	5	142,436,095 (GRCm39)	missense	probably damaging	1.00
R0217:Foxk1	UTSW	5	142,387,649 (GRCm39)	missense	possibly damaging	0.93
R0256:Foxk1	UTSW	5	142,439,436 (GRCm39)	splice site	probably benign
R0481:Foxk1	UTSW	5	142,434,578 (GRCm39)	missense	probably benign	0.09
R1941:Foxk1	UTSW	5	142,442,429 (GRCm39)	missense	possibly damaging	0.67
R2128:Foxk1	UTSW	5	142,420,943 (GRCm39)	nonsense	probably null
R2129:Foxk1	UTSW	5	142,420,943 (GRCm39)	nonsense	probably null
R2356:Foxk1	UTSW	5	142,441,164 (GRCm39)	missense	possibly damaging	0.93
R5156:Foxk1	UTSW	5	142,434,588 (GRCm39)	missense	possibly damaging	0.88
R5958:Foxk1	UTSW	5	142,442,429 (GRCm39)	missense	probably benign	0.06
R7686:Foxk1	UTSW	5	142,387,625 (GRCm39)	missense	probably damaging	0.99
R8141:Foxk1	UTSW	5	142,439,716 (GRCm39)	missense	probably damaging	1.00
R8406:Foxk1	UTSW	5	142,387,528 (GRCm39)	missense	unknown
R8433:Foxk1	UTSW	5	142,434,539 (GRCm39)	missense	probably benign	0.00
R9135:Foxk1	UTSW	5	142,434,497 (GRCm39)	missense	probably benign	0.34
R9487:Foxk1	UTSW	5	142,437,389 (GRCm39)	critical splice donor site	probably null
R9567:Foxk1	UTSW	5	142,387,713 (GRCm39)	nonsense	probably null
R9790:Foxk1	UTSW	5	142,387,739 (GRCm39)	missense	probably damaging	0.99
R9791:Foxk1	UTSW	5	142,387,739 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-10-07