Incidental Mutation 'IGL02113:Foxf1'
ID 280252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxf1
Ensembl Gene ENSMUSG00000042812
Gene Name forkhead box F1
Synonyms FREAC1, Hfh8, Freac-1, Foxf1a, Foxf1, HFH-8
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02113
Quality Score
Status
Chromosome 8
Chromosomal Location 121084386-121088144 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121084565 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 56 (L56H)
Ref Sequence ENSEMBL: ENSMUSP00000137662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127664] [ENSMUST00000181504]
AlphaFold Q61080
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000181504
AA Change: L56H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137662
Gene: ENSMUSG00000042812
AA Change: L56H

DomainStartEndE-ValueType
low complexity region 12 42 N/A INTRINSIC
FH 46 136 6.02e-59 SMART
low complexity region 137 146 N/A INTRINSIC
low complexity region 217 230 N/A INTRINSIC
low complexity region 263 276 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184096
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in mid-gestation lethality, defects in extraembryonic and lateral plate mesoderm differentiation, failure of embryo turning, absence of yolk sac and allantois vasculogenesis, retarded somite and posterior embryo development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,110,478 H726L possibly damaging Het
Aqr A T 2: 114,120,027 Y900* probably null Het
Atp11a G T 8: 12,865,048 R1155S probably benign Het
Bahd1 A G 2: 118,917,205 D435G probably benign Het
Brca2 A G 5: 150,540,979 T1403A possibly damaging Het
Cc2d2a T A 5: 43,685,248 probably null Het
Cog7 A G 7: 121,925,480 I697T probably damaging Het
Dclre1a A G 19: 56,541,532 V791A probably damaging Het
Dgki A G 6: 36,913,625 probably benign Het
Dpyd A G 3: 118,999,219 Y525C probably benign Het
Eepd1 T C 9: 25,482,713 L91P probably damaging Het
Fry A T 5: 150,399,605 M1074L probably benign Het
Gbx1 T C 5: 24,504,876 T324A probably damaging Het
Gfpt1 T A 6: 87,087,367 N646K probably benign Het
Gm10258 C T 3: 30,268,393 probably benign Het
Gm12887 T C 4: 121,616,495 M53V probably benign Het
Hoxa11 C T 6: 52,245,317 G135S probably damaging Het
Mettl6 A T 14: 31,482,831 Y211* probably null Het
Moxd2 T C 6: 40,885,404 I160M probably benign Het
Mphosph10 G A 7: 64,376,807 probably benign Het
Mrpl19 T A 6: 81,965,915 M5L probably benign Het
Nbea A G 3: 55,992,492 V1412A probably benign Het
Nceh1 G T 3: 27,222,891 S121I probably damaging Het
Ntan1 A G 16: 13,835,144 T217A probably damaging Het
Ogfod1 C T 8: 94,064,213 A504V probably damaging Het
Olfr584 A T 7: 103,085,850 I111L possibly damaging Het
Pde3b G A 7: 114,526,906 V792M probably damaging Het
Pde9a A T 17: 31,459,970 M262L probably benign Het
Pi4ka A G 16: 17,373,415 V206A probably benign Het
Pkp1 A T 1: 135,883,914 N406K possibly damaging Het
Rcn3 A G 7: 45,083,338 I302T probably damaging Het
Rfx6 A G 10: 51,678,012 Q68R probably benign Het
Rpgrip1 A G 14: 52,133,844 D340G possibly damaging Het
Scn10a C T 9: 119,609,890 G1638S probably damaging Het
Serpinb9f A T 13: 33,334,468 H317L probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 A G 1: 45,910,894 I466T probably benign Het
Smyd2 A T 1: 189,882,217 S371R probably damaging Het
Snap47 A C 11: 59,428,436 I292S probably damaging Het
Tbx4 A G 11: 85,912,264 E322G possibly damaging Het
Tg A G 15: 66,705,330 T1501A probably benign Het
Tmem259 A G 10: 79,978,709 V300A probably benign Het
Usp7 A G 16: 8,716,513 probably null Het
Vmn2r94 G T 17: 18,257,675 T158K probably damaging Het
Vmn2r95 G T 17: 18,439,907 A194S possibly damaging Het
Zfp944 A T 17: 22,339,066 I400N possibly damaging Het
Zmynd12 T A 4: 119,433,997 I53K probably damaging Het
Other mutations in Foxf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02040:Foxf1 APN 8 121085345 missense probably damaging 0.99
IGL03167:Foxf1 APN 8 121084908 nonsense probably null
R0359:Foxf1 UTSW 8 121085003 missense possibly damaging 0.69
R0621:Foxf1 UTSW 8 121085180 missense probably damaging 0.98
R1523:Foxf1 UTSW 8 121084558 splice site probably null
R4854:Foxf1 UTSW 8 121086814 missense probably benign
R5435:Foxf1 UTSW 8 121084492 missense probably damaging 0.99
R6423:Foxf1 UTSW 8 121085095 missense possibly damaging 0.90
R7582:Foxf1 UTSW 8 121084691 missense possibly damaging 0.94
R7853:Foxf1 UTSW 8 121084699 missense probably damaging 0.99
R8095:Foxf1 UTSW 8 121086812 missense probably benign 0.01
R8168:Foxf1 UTSW 8 121085162 missense probably damaging 0.98
R8841:Foxf1 UTSW 8 121085180 missense probably damaging 0.98
R9232:Foxf1 UTSW 8 121084976 missense possibly damaging 0.95
Z1176:Foxf1 UTSW 8 121084529 missense probably damaging 0.99
Z1177:Foxf1 UTSW 8 121084435 missense probably damaging 1.00
Posted On 2015-04-16