Mutagenetix > Incidental Mutations

Incidental Mutation 'R8406:Foxk1'

652408

Institutional Source

Beutler Lab

Gene Symbol

Foxk1

Ensembl Gene

ENSMUSG00000056493

Gene Name

forkhead box K1

Synonyms

Mnf, A630048H08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.719) question?

Stock #

R8406 (G1)

Quality Score

148.008

Status

Not validated

Chromosome

Chromosomal Location

142401497-142462011 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142401773 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 84 (V84L)

Ref Sequence

ENSEMBL: ENSMUSP00000072616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072837] [ENSMUST00000198422]

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

unknown
Transcript: ENSMUST00000072837
AA Change: V84L

SMART Domains

Protein: ENSMUSP00000072616
Gene: ENSMUSG00000056493
AA Change: V84L

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

Predicted Effect

unknown
Transcript: ENSMUST00000198422
AA Change: V84L

SMART Domains

Protein: ENSMUSP00000143450
Gene: ENSMUSG00000056493
AA Change: V84L

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	5.7e-12	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
Abca8a	A	G	11: 110,086,517	F139L	probably damaging	Het
Adgrg6	A	T	10: 14,467,338	D288E	probably benign	Het
Agbl1	A	G	7: 76,418,667	E327G		Het
Aipl1	T	A	11: 72,031,506	M126L	possibly damaging	Het
Alkal2	G	T	12: 30,884,851	G23V	probably damaging	Het
Arl3	A	T	19: 46,542,384	S157T	probably benign	Het
Armc3	A	T	2: 19,235,554	I41F	probably damaging	Het
Atg9a	A	C	1: 75,190,384	Y8D	probably damaging	Het
Atp10b	T	G	11: 43,203,157	H509Q	probably benign	Het
Cabyr	C	A	18: 12,750,747	T97K	probably benign	Het
Ccdc91	T	C	6: 147,537,422	F174S	possibly damaging	Het
Cep350	A	T	1: 155,922,418	H1207Q	probably benign	Het
Clstn3	A	T	6: 124,462,177	N40K	probably damaging	Het
Col4a4	G	A	1: 82,523,890	P381S	unknown	Het
Cpne5	A	T	17: 29,209,481	F116Y	probably benign	Het
Csf2rb2	T	C	15: 78,287,016	T457A	probably benign	Het
Cyb5d2	T	C	11: 72,789,133	E112G	probably benign	Het
Cyp2b13	T	C	7: 26,081,798	F212L	probably benign	Het
Dlx6	T	G	6: 6,863,779	S134A	probably benign	Het
Egln1	A	G	8: 124,911,750	Y380H	probably benign	Het
Fam160a1	G	T	3: 85,672,720	P726Q	probably benign	Het
Fbxl13	A	T	5: 21,523,654	I479N	probably damaging	Het
Fis1	A	G	5: 136,963,011	K20E	probably benign	Het
Gdf5	C	A	2: 155,942,352	G227W	probably damaging	Het
Ghrh	T	A	2: 157,333,736	T13S	probably benign	Het
Gnb2	A	G	5: 137,528,603	L308P	probably damaging	Het
Grik2	A	T	10: 49,272,767	V574D	probably damaging	Het
Hydin	A	T	8: 110,609,911	I5107F	possibly damaging	Het
Kl	A	T	5: 150,982,764	Y533F	probably benign	Het
Man2b1	G	T	8: 85,096,278	R816L	probably damaging	Het
Myo5c	T	C	9: 75,275,541	Y821H	probably damaging	Het
Myo7b	A	T	18: 31,959,813	C2076S	probably damaging	Het
Naip6	C	T	13: 100,300,276	A580T	possibly damaging	Het
Nectin2	A	T	7: 19,738,350	V38E	probably damaging	Het
Olfr538	A	T	7: 140,574,131		probably benign	Het
Osbpl9	T	C	4: 109,064,573	Y536C	possibly damaging	Het
Pcdh18	T	G	3: 49,756,549	I106L	probably damaging	Het
Pde4dip	T	C	3: 97,699,112	K2149E	probably benign	Het
Pds5a	A	T	5: 65,646,338	C588S	probably benign	Het
Pop1	T	C	15: 34,529,170	M812T	probably benign	Het
Pou2f3	T	C	9: 43,139,858	T178A	probably damaging	Het
Rab44	C	T	17: 29,140,320	A494V	unknown	Het
Ros1	G	C	10: 52,101,845	T1456S	possibly damaging	Het
Rubcnl	T	G	14: 75,051,985	F644L	probably damaging	Het
Saraf	C	T	8: 34,165,448	P227L	probably benign	Het
Sh3glb1	T	G	3: 144,691,437	E383D	probably damaging	Het
Sh3rf3	T	C	10: 59,083,585	V508A	probably damaging	Het
Sirt6	A	T	10: 81,622,494	H308Q	probably benign	Het
Slc29a1	T	A	17: 45,589,780	I119F	probably damaging	Het
Smtnl1	C	T	2: 84,818,398	E171K	probably benign	Het
Spg11	T	A	2: 122,093,442	E799D	probably damaging	Het
Tecpr1	A	T	5: 144,200,840	W894R	probably damaging	Het
Tiam2	A	C	17: 3,507,790	I1230L	possibly damaging	Het
Tnfrsf8	A	G	4: 145,292,695	L190P	probably damaging	Het
Trim35	C	T	14: 66,297,275	T69M	possibly damaging	Het
Ttll7	T	C	3: 146,940,024	Y546H	probably benign	Het
Ubash3b	C	T	9: 41,029,675	G389R	probably damaging	Het
Vma21-ps	C	T	4: 52,497,034	V71I	probably damaging	Het
Vmn1r43	T	A	6: 89,870,432	H24L	possibly damaging	Het
Vps37c	T	A	19: 10,710,355	L60Q	probably damaging	Het
Ythdf2	A	G	4: 132,204,635	W405R	probably damaging	Het
Zfp775	T	C	6: 48,620,703	C504R	probably damaging	Het
Zfp82	A	G	7: 30,062,227		probably null	Het
Zpr1	T	A	9: 46,274,102	I127N	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
IGL02122:Foxk1	APN	5	142451429	splice site	probably benign
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
R8433:Foxk1	UTSW	5	142448784	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAATCCAAGCACCCTTCGG -3'
(R):5'- TAGAAGTGAGGCTCCTGGAAGC -3'

Sequencing Primer
(F):5'- ACCTCGAGTGGAAGCTGC -3'
(R):5'- TCCTGGAAGCTGAGCTGC -3'

Posted On

2020-10-20