Incidental Mutation 'R8406:Foxk1'
ID652408
Institutional Source Beutler Lab
Gene Symbol Foxk1
Ensembl Gene ENSMUSG00000056493
Gene Nameforkhead box K1
SynonymsMnf, A630048H08Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.719) question?
Stock #R8406 (G1)
Quality Score148.008
Status Not validated
Chromosome5
Chromosomal Location142401497-142462011 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 142401773 bp
ZygosityHeterozygous
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

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
Predicted Effect unknown
Transcript: ENSMUST00000198422
AA Change: V84L
SMART Domains Protein: ENSMUSP00000143450
Gene: ENSMUSG00000056493
AA Change: V84L

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2020-10-20