Incidental Mutation 'IGL01939:Foxf2'
ID 180777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxf2
Ensembl Gene ENSMUSG00000038402
Gene Name forkhead box F2
Synonyms FREAC2, LUN, Fkh20
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01939
Quality Score
Status
Chromosome 13
Chromosomal Location 31809799-31815386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31810697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 212 (S212I)
Ref Sequence ENSEMBL: ENSMUSP00000046789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042054]
AlphaFold O54743
Predicted Effect probably damaging
Transcript: ENSMUST00000042054
AA Change: S212I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046789
Gene: ENSMUSG00000038402
AA Change: S212I

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,885,925 (GRCm39) D22Y probably damaging Het
Ak7 T C 12: 105,701,183 (GRCm39) V242A probably benign Het
Cacna1b T C 2: 24,551,769 (GRCm39) N1127S probably damaging Het
Cacnb2 A T 2: 14,976,380 (GRCm39) H267L probably benign Het
Ces1b C T 8: 93,806,059 (GRCm39) G61R probably damaging Het
Cgnl1 T A 9: 71,632,286 (GRCm39) D355V probably damaging Het
Col24a1 T C 3: 145,021,005 (GRCm39) S459P probably damaging Het
Crygd T C 1: 65,101,185 (GRCm39) T137A probably benign Het
Dctn4 T A 18: 60,677,202 (GRCm39) M174K probably benign Het
Evi5 A G 5: 107,964,790 (GRCm39) probably benign Het
Fat2 T G 11: 55,174,806 (GRCm39) D1969A probably benign Het
Fcrl5 A T 3: 87,353,606 (GRCm39) E317V probably damaging Het
Gm21759 T A 5: 8,230,685 (GRCm39) probably benign Het
Gm5414 A G 15: 101,534,105 (GRCm39) probably benign Het
Gm7275 T C 16: 47,893,946 (GRCm39) noncoding transcript Het
Hspa9 T C 18: 35,071,761 (GRCm39) E613G possibly damaging Het
Il1rl1 A G 1: 40,501,168 (GRCm39) I515V possibly damaging Het
Ins1 G T 19: 52,253,173 (GRCm39) A38S probably damaging Het
Klhl31 A G 9: 77,562,488 (GRCm39) N418D probably benign Het
Magi3 T C 3: 103,961,778 (GRCm39) K417E probably damaging Het
Msh4 A G 3: 153,563,226 (GRCm39) Y823H probably damaging Het
Myo6 T A 9: 80,168,100 (GRCm39) D421E probably damaging Het
Myom3 T C 4: 135,492,900 (GRCm39) S150P possibly damaging Het
Nectin1 C T 9: 43,703,871 (GRCm39) probably benign Het
Nkx1-2 A T 7: 132,201,203 (GRCm39) I18N probably damaging Het
Or4s2b A G 2: 88,509,077 (GRCm39) T286A probably damaging Het
Or5b113 A T 19: 13,342,807 (GRCm39) I272F probably benign Het
Or8g33 A C 9: 39,337,634 (GRCm39) H244Q probably damaging Het
Or9g4 T C 2: 85,505,285 (GRCm39) D70G probably damaging Het
Pde8b T C 13: 95,232,232 (GRCm39) R237G probably damaging Het
Pp2d1 G A 17: 53,822,167 (GRCm39) L300F probably damaging Het
Ptpn21 A T 12: 98,655,420 (GRCm39) Y516N probably damaging Het
Ptprm T A 17: 67,370,158 (GRCm39) probably benign Het
Rabggtb A G 3: 153,617,650 (GRCm39) V16A probably damaging Het
Rangap1 A T 15: 81,604,864 (GRCm39) C82S probably damaging Het
Rasal2 T C 1: 157,003,480 (GRCm39) E393G probably damaging Het
Rasgrf1 A T 9: 89,856,889 (GRCm39) E449V probably damaging Het
Rrp12 A T 19: 41,859,334 (GRCm39) H1143Q probably damaging Het
Scap T C 9: 110,208,549 (GRCm39) I530T probably benign Het
Sel1l T A 12: 91,783,021 (GRCm39) Q482L probably damaging Het
Serpinb9b T C 13: 33,223,648 (GRCm39) M280T probably damaging Het
Slc39a10 T A 1: 46,871,895 (GRCm39) H348L probably benign Het
Slc7a2 T C 8: 41,367,120 (GRCm39) L542P possibly damaging Het
Tas1r2 A T 4: 139,396,488 (GRCm39) Q609L probably damaging Het
Tbc1d14 A T 5: 36,665,781 (GRCm39) probably benign Het
Tfb2m A G 1: 179,365,262 (GRCm39) probably null Het
Tpo T C 12: 30,134,646 (GRCm39) T771A possibly damaging Het
Tpr G A 1: 150,289,496 (GRCm39) R609H possibly damaging Het
Usp34 T A 11: 23,295,141 (GRCm39) probably benign Het
Vmn1r193 G T 13: 22,403,893 (GRCm39) S33* probably null Het
Vmn2r104 A C 17: 20,250,187 (GRCm39) S695A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r24 A G 6: 123,764,404 (GRCm39) D427G probably benign Het
Zfp362 A G 4: 128,680,846 (GRCm39) S160P probably benign Het
Other mutations in Foxf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Foxf2 APN 13 31,810,172 (GRCm39) missense unknown
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
R5303:Foxf2 UTSW 13 31,810,463 (GRCm39) missense possibly damaging 0.88
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
Posted On 2014-05-07