Incidental Mutation 'R0481:Foxk1'
ID 43362
Institutional Source Beutler Lab
Gene Symbol Foxk1
Ensembl Gene ENSMUSG00000056493
Gene Name forkhead box K1
Synonyms A630048H08Rik, Mnf
MMRRC Submission 038681-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.738) question?
Stock # R0481 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 142387252-142447766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142434578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 281 (S281T)
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 benign
Transcript: ENSMUST00000072837
AA Change: S281T

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000072616
Gene: ENSMUSG00000056493
AA Change: S281T

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0908 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 95% (89/94)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,190,666 (GRCm39) N39Y probably benign Het
Adamts10 C T 17: 33,768,347 (GRCm39) Q840* probably null Het
Aff2 C T X: 68,878,248 (GRCm39) T678I probably damaging Het
Ahctf1 A G 1: 179,587,836 (GRCm39) V1418A probably benign Het
Ankrd11 G A 8: 123,626,775 (GRCm39) R136C probably damaging Het
Arf5 A G 6: 28,426,075 (GRCm39) Y154C probably damaging Het
AW551984 A G 9: 39,511,912 (GRCm39) V33A probably null Het
B4galt5 A G 2: 167,151,154 (GRCm39) L118P probably damaging Het
Bcl9l A G 9: 44,417,979 (GRCm39) I606V probably benign Het
Bdp1 A G 13: 100,177,962 (GRCm39) I1969T probably benign Het
Bicd1 A T 6: 149,413,389 (GRCm39) D260V possibly damaging Het
Cap1 A T 4: 122,756,868 (GRCm39) H272Q possibly damaging Het
Ccnk A G 12: 108,165,568 (GRCm39) probably benign Het
Cd209f A T 8: 4,155,558 (GRCm39) probably null Het
Cdk13 C A 13: 17,894,079 (GRCm39) A1123S probably damaging Het
Cdx1 C T 18: 61,153,564 (GRCm39) R158H probably damaging Het
Chd8 A G 14: 52,474,663 (GRCm39) S123P probably benign Het
Cwc22 G A 2: 77,738,455 (GRCm39) A497V probably damaging Het
Cwh43 T C 5: 73,575,370 (GRCm39) S296P probably damaging Het
Dhx38 A T 8: 110,282,848 (GRCm39) probably benign Het
Dnah5 T A 15: 28,383,745 (GRCm39) M2989K probably benign Het
Dpy19l4 A C 4: 11,272,993 (GRCm39) probably benign Het
F11r A T 1: 171,288,847 (GRCm39) H155L probably benign Het
Fcgbpl1 A T 7: 27,853,174 (GRCm39) D1487V probably damaging Het
Fitm2 A G 2: 163,311,634 (GRCm39) V193A probably benign Het
Furin A G 7: 80,043,297 (GRCm39) C305R probably damaging Het
Fut8 T A 12: 77,495,334 (GRCm39) V308D probably damaging Het
Gjb3 T A 4: 127,220,125 (GRCm39) I136F probably benign Het
Glmn A T 5: 107,708,800 (GRCm39) S385T probably benign Het
Glp1r T A 17: 31,150,191 (GRCm39) M371K probably benign Het
Gpr179 T C 11: 97,240,544 (GRCm39) H293R probably damaging Het
H2-M11 A T 17: 36,859,846 (GRCm39) R280* probably null Het
Hadhb T A 5: 30,373,543 (GRCm39) H78Q probably damaging Het
Hectd4 A G 5: 121,433,569 (GRCm39) probably benign Het
Hexa A G 9: 59,462,693 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Hyal6 G A 6: 24,743,417 (GRCm39) C371Y probably damaging Het
Il1rap T C 16: 26,511,585 (GRCm39) Y210H probably damaging Het
Ino80 A T 2: 119,261,497 (GRCm39) H722Q probably damaging Het
Kcnt1 A G 2: 25,782,508 (GRCm39) N200S probably damaging Het
Kif27 T A 13: 58,459,078 (GRCm39) probably benign Het
Lyst T C 13: 13,852,537 (GRCm39) V2179A probably benign Het
Macf1 C A 4: 123,377,815 (GRCm39) probably null Het
Mamdc4 A G 2: 25,461,228 (GRCm39) M1T probably null Het
Mansc4 A G 6: 146,976,725 (GRCm39) I297T possibly damaging Het
Mdn1 G A 4: 32,767,182 (GRCm39) probably benign Het
Mib2 A G 4: 155,740,519 (GRCm39) probably benign Het
Mon2 A G 10: 122,849,301 (GRCm39) V1333A possibly damaging Het
Ndst2 T C 14: 20,774,536 (GRCm39) D840G possibly damaging Het
Nell2 A T 15: 95,330,563 (GRCm39) probably null Het
Or4c102 A T 2: 88,422,999 (GRCm39) I284F probably damaging Het
Or4k51 T A 2: 111,584,930 (GRCm39) M112K probably damaging Het
Or5g29 C A 2: 85,421,448 (GRCm39) A188E possibly damaging Het
Pde5a C T 3: 122,611,726 (GRCm39) probably benign Het
Phip A G 9: 82,758,769 (GRCm39) probably benign Het
Polr2b A G 5: 77,479,929 (GRCm39) I561V possibly damaging Het
Ppp4r3c2 T C X: 88,796,299 (GRCm39) S44P probably damaging Het
Prkg2 A T 5: 99,142,514 (GRCm39) probably null Het
Prl8a6 T C 13: 27,617,084 (GRCm39) D201G probably benign Het
Ptk6 G A 2: 180,844,320 (GRCm39) probably benign Het
Ptprn2 T C 12: 117,175,466 (GRCm39) probably benign Het
Rdh1 G T 10: 127,598,993 (GRCm39) R158L probably damaging Het
Rhbdl3 T C 11: 80,214,175 (GRCm39) probably benign Het
Rims4 A T 2: 163,706,040 (GRCm39) V198E probably damaging Het
Ripk1 T C 13: 34,193,733 (GRCm39) S32P probably damaging Het
Rnf13 T A 3: 57,686,872 (GRCm39) N88K probably damaging Het
Rnf13 C A 3: 57,714,474 (GRCm39) L178I probably damaging Het
Slc17a5 G T 9: 78,445,584 (GRCm39) probably null Het
Sorcs1 A G 19: 50,624,891 (GRCm39) probably benign Het
Spata31e3 T A 13: 50,401,000 (GRCm39) Q442L probably benign Het
Srpk1 G A 17: 28,809,218 (GRCm39) probably benign Het
Stk10 A G 11: 32,564,708 (GRCm39) K840E probably damaging Het
Suco A G 1: 161,689,882 (GRCm39) probably benign Het
T2 G A 17: 8,636,007 (GRCm39) probably null Het
Tbc1d5 A G 17: 51,226,079 (GRCm39) S255P probably damaging Het
Tenm1 T C X: 41,625,058 (GRCm39) Y2254C probably damaging Het
Tex9 T A 9: 72,385,678 (GRCm39) K11* probably null Het
Tlr4 A G 4: 66,746,153 (GRCm39) I29V probably benign Het
Tmem255a A T X: 37,288,523 (GRCm39) V278D probably damaging Het
Trpc3 T C 3: 36,678,566 (GRCm39) I840V probably benign Het
Trpm3 G A 19: 22,878,435 (GRCm39) R622Q possibly damaging Het
Vmn1r214 T A 13: 23,219,464 (GRCm39) Y319* probably null Het
Vmn1r53 A T 6: 90,200,700 (GRCm39) V208E probably damaging Het
Vmn2r89 T C 14: 51,693,577 (GRCm39) F309S probably damaging Het
Xirp2 T A 2: 67,340,253 (GRCm39) F831L possibly damaging Het
Yes1 G T 5: 32,797,749 (GRCm39) E23* probably null Het
Zfp292 A T 4: 34,810,059 (GRCm39) M995K probably benign Het
Other mutations in Foxk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Foxk1 APN 5 142,439,344 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GCCAGTAGGGCAGAAATAACACCTC -3'
(R):5'- CACTGCAATGGCAAAGCTCACG -3'

Sequencing Primer
(F):5'- ATTTGGAGACAGGGTTCTCACC -3'
(R):5'- CTCACGTCTGGGAACTGACATAG -3'
Posted On 2013-05-23