Incidental Mutation 'IGL03275:Foxf2'
ID415400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxf2
Ensembl Gene ENSMUSG00000038402
Gene Nameforkhead box F2
SynonymsLUN, FREAC2, Fkh20
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03275
Quality Score
Status
Chromosome13
Chromosomal Location31625816-31631403 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31626531 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 151 (N151S)
Ref Sequence ENSEMBL: ENSMUSP00000046789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042054]
Predicted Effect probably damaging
Transcript: ENSMUST00000042054
AA Change: N151S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046789
Gene: ENSMUSG00000038402
AA Change: N151S

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T A 8: 72,445,124 L125H probably damaging Het
2210408I21Rik A T 13: 77,298,555 T816S possibly damaging Het
Aspm T A 1: 139,487,295 I1438N probably damaging Het
BC005561 T A 5: 104,518,277 C222S probably benign Het
Bicdl1 A G 5: 115,731,160 Y134H probably damaging Het
Btnl1 A T 17: 34,385,512 K422N probably damaging Het
Ccdc158 T A 5: 92,629,632 I941F probably benign Het
Crnn A G 3: 93,149,418 K504E possibly damaging Het
Csmd1 T A 8: 16,157,092 I1308L probably benign Het
Cwf19l1 T C 19: 44,123,257 M246V probably benign Het
Desi1 T A 15: 82,003,762 I36F probably damaging Het
Fryl A G 5: 73,148,033 V35A possibly damaging Het
Gabrg3 T C 7: 56,773,347 Y201C probably damaging Het
Gm11487 T A 4: 73,403,416 R127S possibly damaging Het
Gm813 T C 16: 58,615,756 Y68C probably damaging Het
Grb10 T A 11: 11,933,591 T500S possibly damaging Het
Hsdl2 A G 4: 59,617,747 *371W probably null Het
Irf7 C A 7: 141,265,146 R49L probably damaging Het
Itpr2 T C 6: 146,158,877 probably benign Het
Jam3 T C 9: 27,101,249 T201A probably damaging Het
Mst1 T C 9: 108,084,388 S606P possibly damaging Het
Olfr483 T A 7: 108,103,608 C100S probably damaging Het
Otog A G 7: 46,306,230 E2800G probably damaging Het
Ptpro C T 6: 137,450,006 P292S probably damaging Het
Rab10 A T 12: 3,256,959 Y79N probably damaging Het
Rc3h1 T C 1: 160,959,555 probably null Het
Slc2a3 C T 6: 122,736,742 probably null Het
Sptbn2 T C 19: 4,732,661 Y542H possibly damaging Het
Tas2r110 T C 6: 132,868,098 F31L probably damaging Het
Ttn A G 2: 76,717,344 S32161P probably damaging Het
Ttn A G 2: 76,945,107 S1864P probably damaging Het
Vmn1r228 A G 17: 20,776,842 I138T probably damaging Het
Vmn2r10 T A 5: 109,003,377 T124S probably benign Het
Other mutations in Foxf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Foxf2 APN 13 31626189 missense unknown
IGL01939:Foxf2 APN 13 31626714 missense probably damaging 0.97
IGL02012:Foxf2 APN 13 31626516 missense probably damaging 0.98
IGL02647:Foxf2 APN 13 31627235 missense probably damaging 0.99
R0517:Foxf2 UTSW 13 31626243 missense unknown
R0812:Foxf2 UTSW 13 31627205 missense probably damaging 0.97
R2005:Foxf2 UTSW 13 31626141 missense unknown
R2090:Foxf2 UTSW 13 31626841 missense probably benign 0.23
R3724:Foxf2 UTSW 13 31630530 missense probably damaging 1.00
R4627:Foxf2 UTSW 13 31626888 missense probably benign 0.40
R4757:Foxf2 UTSW 13 31626189 missense unknown
R5049:Foxf2 UTSW 13 31627175 missense probably benign
R5303:Foxf2 UTSW 13 31626480 missense possibly damaging 0.88
R5874:Foxf2 UTSW 13 31626792 missense probably benign 0.05
R6983:Foxf2 UTSW 13 31627197 missense probably benign 0.35
R7309:Foxf2 UTSW 13 31626513 missense probably damaging 0.98
R7635:Foxf2 UTSW 13 31626104 missense unknown
R7773:Foxf2 UTSW 13 31627199 missense probably benign 0.00
Posted On2016-08-02