Incidental Mutation 'R5156:Foxk1'
ID 396725
Institutional Source Beutler Lab
Gene Symbol Foxk1
Ensembl Gene ENSMUSG00000056493
Gene Name forkhead box K1
Synonyms A630048H08Rik, Mnf
MMRRC Submission 042738-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.738) question?
Stock # R5156 (G1)
Quality Score 211
Status Validated
Chromosome 5
Chromosomal Location 142387252-142447766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142434588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 284 (D284G)
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 possibly damaging
Transcript: ENSMUST00000072837
AA Change: D284G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072616
Gene: ENSMUSG00000056493
AA Change: D284G

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 0.0938 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G T 17: 79,935,638 (GRCm39) probably benign Het
Apeh C T 9: 107,971,486 (GRCm39) A29T probably damaging Het
Arap2 A T 5: 62,826,524 (GRCm39) Y1013* probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Asf1b T C 8: 84,682,540 (GRCm39) F28S probably damaging Het
Cd46 T A 1: 194,767,693 (GRCm39) I123L possibly damaging Het
Cdca7 A T 2: 72,309,370 (GRCm39) T48S probably damaging Het
Cfap53 T A 18: 74,492,838 (GRCm39) probably benign Het
Clca3a2 T A 3: 144,511,599 (GRCm39) T599S probably benign Het
Csf1 T A 3: 107,656,252 (GRCm39) T148S probably benign Het
Dmbt1 T C 7: 130,699,400 (GRCm39) probably null Het
Dmpk A G 7: 18,818,050 (GRCm39) D44G probably damaging Het
Dnajb12 T A 10: 59,728,782 (GRCm39) N223K probably damaging Het
Dync1h1 T A 12: 110,595,264 (GRCm39) M1392K probably benign Het
Edrf1 C T 7: 133,261,908 (GRCm39) A867V probably damaging Het
Efemp2 T A 19: 5,527,706 (GRCm39) C94S possibly damaging Het
Epha8 C T 4: 136,666,037 (GRCm39) S373N probably benign Het
Fzd10 C A 5: 128,678,366 (GRCm39) R29S possibly damaging Het
Gm13991 T C 2: 116,358,665 (GRCm39) noncoding transcript Het
Gm6818 A T 7: 38,101,471 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,336,333 (GRCm39) C5037S probably benign Het
Ikzf1 T A 11: 11,719,448 (GRCm39) M492K probably damaging Het
Krt20 G T 11: 99,320,879 (GRCm39) S394R possibly damaging Het
Lrrc71 T A 3: 87,653,094 (GRCm39) R107S probably benign Het
Mia2 A G 12: 59,219,323 (GRCm39) T436A possibly damaging Het
Muc19 T A 15: 91,784,614 (GRCm39) noncoding transcript Het
Neu4 T C 1: 93,952,177 (GRCm39) V182A probably damaging Het
Notch2 T G 3: 98,031,626 (GRCm39) F1167V possibly damaging Het
Nrap A G 19: 56,360,277 (GRCm39) M189T possibly damaging Het
Nt5m A T 11: 59,765,487 (GRCm39) I172F probably damaging Het
Or5b118 G T 19: 13,449,037 (GRCm39) K234N probably damaging Het
Or5w15 G A 2: 87,568,119 (GRCm39) P183L possibly damaging Het
Or8k41 A T 2: 86,313,362 (GRCm39) C241* probably null Het
Plekha5 C T 6: 140,372,254 (GRCm39) T68M probably damaging Het
Ppef2 A G 5: 92,392,461 (GRCm39) probably null Het
Ppp1r37 T C 7: 19,295,900 (GRCm39) probably benign Het
Rfx4 T C 10: 84,704,218 (GRCm39) Y238H probably damaging Het
Sanbr A G 11: 23,543,424 (GRCm39) probably null Het
Sec13 G A 6: 113,707,837 (GRCm39) A161V probably benign Het
Serhl G A 15: 82,986,895 (GRCm39) probably benign Het
Slco4a1 T C 2: 180,114,572 (GRCm39) V588A probably benign Het
Slitrk3 T C 3: 72,956,592 (GRCm39) T727A probably benign Het
Sp100 T A 1: 85,601,404 (GRCm39) D241E probably damaging Het
Spata2 G T 2: 167,325,494 (GRCm39) H442N probably damaging Het
Speg T C 1: 75,404,731 (GRCm39) V2588A probably damaging Het
Tnfsf12 A G 11: 69,578,155 (GRCm39) S141P probably damaging Het
Trank1 A G 9: 111,219,762 (GRCm39) I2166M probably damaging Het
Trim10 T A 17: 37,187,948 (GRCm39) V388E probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r10 A G 5: 109,143,466 (GRCm39) V828A probably benign Het
Vmn2r75 T A 7: 85,813,436 (GRCm39) L455F possibly damaging Het
Vwa8 T A 14: 79,221,666 (GRCm39) S541T 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
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
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'- AGGGTCTCAGACTGACTGTG -3'
(R):5'- AATGTCTCACTAGCGGTGGAC -3'

Sequencing Primer
(F):5'- GGTCATCCAGTTATCGCT -3'
(R):5'- TCTCACTAGCGGTGGACAGAAC -3'
Posted On 2016-06-21