Incidental Mutation 'IGL02012:Foxf2'
ID183391
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 #IGL02012
Quality Score
Status
Chromosome13
Chromosomal Location31625816-31631403 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31626516 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 146 (N146S)
Ref Sequence ENSEMBL: ENSMUSP00000046789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042054]
Predicted Effect probably damaging
Transcript: ENSMUST00000042054
AA Change: N146S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046789
Gene: ENSMUSG00000038402
AA Change: N146S

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,674,861 N1296S probably damaging Het
Adprh A T 16: 38,445,852 D309E possibly damaging Het
AF529169 T C 9: 89,601,438 I635M probably benign Het
Armc1 A T 3: 19,157,537 C40S possibly damaging Het
BC100530 T G 16: 36,367,440 D21A possibly damaging Het
Cops8 T C 1: 90,612,234 V204A probably damaging Het
Dchs1 T G 7: 105,764,297 T1104P probably damaging Het
Ddi2 A T 4: 141,708,218 probably null Het
Ehbp1 G A 11: 22,101,218 P420S probably damaging Het
Eif1ad T G 19: 5,368,659 V80G probably damaging Het
Fat1 T C 8: 45,027,540 Y3004H possibly damaging Het
Fbxo11 C T 17: 88,012,651 R211Q probably benign Het
Fsd2 A T 7: 81,549,914 N334K probably benign Het
Gm45234 C A 6: 124,746,048 probably benign Het
Itpr3 T A 17: 27,104,095 F1157I probably benign Het
Jph1 C A 1: 17,097,414 W64L probably benign Het
Lmo7 T C 14: 101,888,716 probably benign Het
Man2a1 T C 17: 64,666,899 I390T probably damaging Het
Marveld3 C T 8: 109,948,132 V351M probably damaging Het
Mycn A G 12: 12,937,103 L431P probably damaging Het
Naip5 T C 13: 100,223,339 N463S probably benign Het
Npnt A G 3: 132,908,397 C182R probably damaging Het
Obscn A G 11: 59,076,507 V3068A probably benign Het
Pggt1b A T 18: 46,262,955 S88T probably benign Het
Prx A G 7: 27,517,901 E748G probably damaging Het
Scrn3 T C 2: 73,318,429 probably null Het
Trmt10b G A 4: 45,315,045 R292H probably benign Het
Tuft1 A G 3: 94,622,155 probably benign Het
Wfdc8 T C 2: 164,603,150 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
IGL02647:Foxf2 APN 13 31627235 missense probably damaging 0.99
IGL03275:Foxf2 APN 13 31626531 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
Posted On2014-05-07