Incidental Mutation 'IGL02040:Foxf1'
ID 184715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxf1
Ensembl Gene ENSMUSG00000042812
Gene Name forkhead box F1
Synonyms Foxf1a, HFH-8, Freac-1, Foxf1, Hfh8, FREAC1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02040
Quality Score
Status
Chromosome 8
Chromosomal Location 121811125-121814883 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121812084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 316 (N316S)
Ref Sequence ENSEMBL: ENSMUSP00000137662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127664] [ENSMUST00000181504]
AlphaFold Q61080
Predicted Effect probably benign
Transcript: ENSMUST00000050684
AA Change: N291S

PolyPhen 2 Score 0.160 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057481
Gene: ENSMUSG00000042812
AA Change: N291S

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
FH 21 111 6.02e-59 SMART
low complexity region 112 121 N/A INTRINSIC
low complexity region 192 205 N/A INTRINSIC
low complexity region 238 251 N/A INTRINSIC
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: N316S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137662
Gene: ENSMUSG00000042812
AA Change: N316S

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T G 5: 3,630,405 (GRCm39) F107C probably damaging Het
4930590J08Rik T C 6: 91,895,091 (GRCm39) V262A probably benign Het
A830018L16Rik T A 1: 12,003,822 (GRCm39) probably benign Het
Adgrb1 T C 15: 74,413,424 (GRCm39) V536A possibly damaging Het
Ano6 T G 15: 95,853,825 (GRCm39) I667R probably benign Het
Ap3b1 T A 13: 94,545,353 (GRCm39) probably null Het
Azin2 G T 4: 128,844,451 (GRCm39) L37M possibly damaging Het
Caap1 A G 4: 94,438,667 (GRCm39) I174T probably damaging Het
Cacna1h A G 17: 25,616,585 (GRCm39) V46A probably benign Het
Chrna6 T C 8: 27,897,289 (GRCm39) D196G probably damaging Het
Col19a1 A G 1: 24,351,126 (GRCm39) probably null Het
Defb22 G T 2: 152,331,976 (GRCm39) T19K possibly damaging Het
Dhx36 T C 3: 62,408,436 (GRCm39) D134G probably benign Het
Dync1h1 A G 12: 110,603,558 (GRCm39) I2211V probably benign Het
Ecel1 A C 1: 87,082,645 (GRCm39) C23G probably benign Het
Elmod2 A G 8: 84,048,126 (GRCm39) V112A probably damaging Het
Enpp1 T C 10: 24,531,754 (GRCm39) K510E probably damaging Het
Erbb4 A T 1: 68,081,694 (GRCm39) S1113R probably damaging Het
Esf1 A T 2: 139,971,181 (GRCm39) D653E possibly damaging Het
Exd1 A G 2: 119,370,546 (GRCm39) V54A possibly damaging Het
Fam227b A T 2: 125,963,004 (GRCm39) probably benign Het
Fnbp1l A G 3: 122,364,602 (GRCm39) probably benign Het
Gpaa1 T C 15: 76,218,495 (GRCm39) V426A probably benign Het
Gpc2 A G 5: 138,274,844 (GRCm39) probably null Het
Hnrnpab A G 11: 51,492,622 (GRCm39) probably benign Het
Hsf4 T G 8: 106,002,299 (GRCm39) probably benign Het
Inpp4a G T 1: 37,435,166 (GRCm39) R179L probably damaging Het
Jakmip2 T A 18: 43,704,919 (GRCm39) M361L probably benign Het
Kif15 A C 9: 122,846,450 (GRCm39) Y117S probably damaging Het
Lnpep T C 17: 17,765,167 (GRCm39) H761R probably benign Het
Masp2 G T 4: 148,688,270 (GRCm39) C180F probably damaging Het
Mical2 A G 7: 111,910,613 (GRCm39) E261G probably damaging Het
Mtmr7 T C 8: 41,013,926 (GRCm39) I211V probably benign Het
Nsd2 T C 5: 34,024,915 (GRCm39) probably benign Het
Or4c121 A G 2: 89,023,907 (GRCm39) I157T probably benign Het
Or51q1c A G 7: 103,652,614 (GRCm39) N44S probably damaging Het
Or8d1b T C 9: 38,887,910 (GRCm39) probably benign Het
Or8j3c A G 2: 86,253,336 (GRCm39) I228T probably damaging Het
Oxct1 G A 15: 4,056,250 (GRCm39) probably benign Het
Pira13 A G 7: 3,824,516 (GRCm39) probably benign Het
Plbd2 C T 5: 120,625,507 (GRCm39) S430N probably damaging Het
Postn A G 3: 54,270,110 (GRCm39) K63R probably benign Het
Pramel19 G A 4: 101,798,331 (GRCm39) V101I possibly damaging Het
Proc A T 18: 32,267,913 (GRCm39) V75E probably benign Het
Ptprt T C 2: 162,079,992 (GRCm39) Y269C probably damaging Het
Rcc2 T C 4: 140,447,902 (GRCm39) V476A possibly damaging Het
Recql5 A G 11: 115,823,623 (GRCm39) V41A possibly damaging Het
Ros1 T A 10: 51,992,018 (GRCm39) I1402F probably damaging Het
Rpgrip1 C T 14: 52,358,476 (GRCm39) T194I possibly damaging Het
Scin T C 12: 40,119,452 (GRCm39) probably benign Het
Skint4 T C 4: 112,003,679 (GRCm39) probably benign Het
Sptan1 T A 2: 29,903,725 (GRCm39) S1545T probably benign Het
Tpra1 A T 6: 88,887,164 (GRCm39) H168L possibly damaging Het
Trim47 T C 11: 115,998,734 (GRCm39) E295G probably damaging Het
Ttc28 T A 5: 111,040,802 (GRCm39) C63* probably null Het
Usp45 G A 4: 21,830,433 (GRCm39) R696H probably benign Het
Zfyve27 G A 19: 42,167,830 (GRCm39) R124Q probably damaging Het
Other mutations in Foxf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Foxf1 APN 8 121,811,304 (GRCm39) missense probably damaging 1.00
IGL03167:Foxf1 APN 8 121,811,647 (GRCm39) nonsense probably null
R0359:Foxf1 UTSW 8 121,811,742 (GRCm39) missense possibly damaging 0.69
R0621:Foxf1 UTSW 8 121,811,919 (GRCm39) missense probably damaging 0.98
R1523:Foxf1 UTSW 8 121,811,297 (GRCm39) splice site probably null
R4854:Foxf1 UTSW 8 121,813,553 (GRCm39) missense probably benign
R5435:Foxf1 UTSW 8 121,811,231 (GRCm39) missense probably damaging 0.99
R6423:Foxf1 UTSW 8 121,811,834 (GRCm39) missense possibly damaging 0.90
R7582:Foxf1 UTSW 8 121,811,430 (GRCm39) missense possibly damaging 0.94
R7853:Foxf1 UTSW 8 121,811,438 (GRCm39) missense probably damaging 0.99
R8095:Foxf1 UTSW 8 121,813,551 (GRCm39) missense probably benign 0.01
R8168:Foxf1 UTSW 8 121,811,901 (GRCm39) missense probably damaging 0.98
R8841:Foxf1 UTSW 8 121,811,919 (GRCm39) missense probably damaging 0.98
R9232:Foxf1 UTSW 8 121,811,715 (GRCm39) missense possibly damaging 0.95
Z1176:Foxf1 UTSW 8 121,811,268 (GRCm39) missense probably damaging 0.99
Z1177:Foxf1 UTSW 8 121,811,174 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07