Incidental Mutation 'R5303:Foxf2'
ID 404371
Institutional Source Beutler Lab
Gene Symbol Foxf2
Ensembl Gene ENSMUSG00000038402
Gene Name forkhead box F2
Synonyms FREAC2, LUN, Fkh20
MMRRC Submission 042886-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5303 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 31809799-31815386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31810463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 134 (F134Y)
Ref Sequence ENSEMBL: ENSMUSP00000046789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042054]
AlphaFold O54743
Predicted Effect possibly damaging
Transcript: ENSMUST00000042054
AA Change: F134Y

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046789
Gene: ENSMUSG00000038402
AA Change: F134Y

low complexity region 7 27 N/A INTRINSIC
low complexity region 45 94 N/A INTRINSIC
FH 98 188 6.02e-59 SMART
low complexity region 189 198 N/A INTRINSIC
low complexity region 236 245 N/A INTRINSIC
low complexity region 256 275 N/A INTRINSIC
low complexity region 289 328 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221582
Meta Mutation Damage Score 0.2797 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice do not live through the first day of life due to an inability to suckle, which is secondary to cleft palate and tongue abnormalities. Mice homozygous for an ENU mutation exhibit postnatal lethality without palate defect and abnormal anterior segment dysgenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C G 3: 124,199,999 (GRCm39) G531A probably damaging Het
4921504E06Rik A G 2: 19,521,110 (GRCm39) Y256H possibly damaging Het
Abcc12 C A 8: 87,236,415 (GRCm39) R1133L probably benign Het
Acss3 T A 10: 106,920,712 (GRCm39) T133S possibly damaging Het
Adra1d G A 2: 131,388,169 (GRCm39) P462L possibly damaging Het
Ank2 A T 3: 126,739,453 (GRCm39) probably benign Het
Arid2 G A 15: 96,290,349 (GRCm39) R1748Q probably damaging Het
B3glct C T 5: 149,677,488 (GRCm39) probably benign Het
C3ar1 A T 6: 122,826,794 (GRCm39) S474R probably damaging Het
Cd1d1 A G 3: 86,905,427 (GRCm39) F189L probably benign Het
Cd46 T C 1: 194,744,707 (GRCm39) I344V probably benign Het
Chrna1 T C 2: 73,396,618 (GRCm39) M426V probably benign Het
Cinp G A 12: 110,843,295 (GRCm39) T139M probably damaging Het
Cplane1 G A 15: 8,290,174 (GRCm39) probably null Het
Disp2 T C 2: 118,641,329 (GRCm39) probably benign Het
Dnaaf6rt G A 1: 31,262,537 (GRCm39) R173H probably damaging Het
Eapp G A 12: 54,739,703 (GRCm39) P38L probably damaging Het
Eif4g3 T C 4: 137,853,873 (GRCm39) S480P probably benign Het
Epb41l3 G C 17: 69,564,444 (GRCm39) E390Q probably damaging Het
Fermt1 T C 2: 132,753,259 (GRCm39) probably null Het
Foxp2 T A 6: 15,324,636 (GRCm39) C95S probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gria1 A G 11: 57,133,851 (GRCm39) T577A probably benign Het
Hal A G 10: 93,352,227 (GRCm39) probably benign Het
Hdac7 C A 15: 97,695,899 (GRCm39) E670D probably damaging Het
Islr2 A T 9: 58,115,558 (GRCm39) probably benign Het
Itpr3 T C 17: 27,335,663 (GRCm39) Y2258H probably benign Het
Mical3 G T 6: 120,936,941 (GRCm39) T1195K probably benign Het
Myh1 T C 11: 67,092,843 (GRCm39) S46P probably benign Het
Mylk3 T A 8: 86,077,105 (GRCm39) I444F probably damaging Het
Nlrc3 A T 16: 3,781,478 (GRCm39) C644S probably benign Het
Notch1 C T 2: 26,368,631 (GRCm39) V553M probably benign Het
Or10g9 A G 9: 39,911,884 (GRCm39) I213T probably damaging Het
Or4a72 T A 2: 89,405,345 (GRCm39) I242F possibly damaging Het
Or51a43 T C 7: 103,718,239 (GRCm39) probably benign Het
Or5b102 T A 19: 13,041,139 (GRCm39) Y121* probably null Het
Postn A G 3: 54,285,018 (GRCm39) T669A probably damaging Het
Ppp5c G T 7: 16,739,209 (GRCm39) Q472K probably benign Het
Qsox1 T C 1: 155,655,039 (GRCm39) H708R probably benign Het
Rhbdl2 A G 4: 123,704,014 (GRCm39) probably benign Het
Ryr1 C T 7: 28,767,907 (GRCm39) E2884K probably damaging Het
Saysd1 T C 14: 20,133,026 (GRCm39) T44A probably benign Het
Septin14 T A 5: 129,766,712 (GRCm39) M290L possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc38a8 C A 8: 120,212,780 (GRCm39) V294L possibly damaging Het
Spdye4b C T 5: 143,188,158 (GRCm39) T217I probably benign Het
Sugp2 T A 8: 70,694,827 (GRCm39) probably benign Het
Syne1 T C 10: 5,370,464 (GRCm39) T232A probably benign Het
Tbc1d5 A T 17: 51,043,228 (GRCm39) D753E probably benign Het
Tmed1 G T 9: 21,421,343 (GRCm39) Q44K possibly damaging Het
Ttc6 T A 12: 57,622,606 (GRCm39) S2T possibly damaging Het
Ube4b T C 4: 149,468,260 (GRCm39) D172G probably damaging Het
Vmn1r235 C A 17: 21,482,268 (GRCm39) Q198K probably benign Het
Wdfy3 T C 5: 102,100,849 (GRCm39) H256R probably damaging Het
Zfat A T 15: 67,982,335 (GRCm39) H1059Q probably damaging Het
Zfp758 A G 17: 22,593,842 (GRCm39) I77M probably benign Het
Zfp850 C T 7: 27,707,838 (GRCm39) A2T probably damaging Het
Zfyve1 A T 12: 83,621,830 (GRCm39) N188K probably damaging Het
Zyg11a C T 4: 108,041,629 (GRCm39) probably null Het
Other mutations in Foxf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Foxf2 APN 13 31,810,172 (GRCm39) missense unknown
IGL01939:Foxf2 APN 13 31,810,697 (GRCm39) missense probably damaging 0.97
IGL02012:Foxf2 APN 13 31,810,499 (GRCm39) missense probably damaging 0.98
IGL02647:Foxf2 APN 13 31,811,218 (GRCm39) missense probably damaging 0.99
IGL03275:Foxf2 APN 13 31,810,514 (GRCm39) missense probably damaging 0.99
R0517:Foxf2 UTSW 13 31,810,226 (GRCm39) missense unknown
R0812:Foxf2 UTSW 13 31,811,188 (GRCm39) missense probably damaging 0.97
R2005:Foxf2 UTSW 13 31,810,124 (GRCm39) missense unknown
R2090:Foxf2 UTSW 13 31,810,824 (GRCm39) missense probably benign 0.23
R3724:Foxf2 UTSW 13 31,814,513 (GRCm39) missense probably damaging 1.00
R4627:Foxf2 UTSW 13 31,810,871 (GRCm39) missense probably benign 0.40
R4757:Foxf2 UTSW 13 31,810,172 (GRCm39) missense unknown
R5049:Foxf2 UTSW 13 31,811,158 (GRCm39) missense probably benign
R5874:Foxf2 UTSW 13 31,810,775 (GRCm39) missense probably benign 0.05
R6983:Foxf2 UTSW 13 31,811,180 (GRCm39) missense probably benign 0.35
R7309:Foxf2 UTSW 13 31,810,496 (GRCm39) missense probably damaging 0.98
R7635:Foxf2 UTSW 13 31,810,087 (GRCm39) missense unknown
R7773:Foxf2 UTSW 13 31,811,182 (GRCm39) missense probably benign 0.00
R8266:Foxf2 UTSW 13 31,810,361 (GRCm39) small insertion probably benign
R9033:Foxf2 UTSW 13 31,810,085 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-22