Incidental Mutation 'IGL02116:Foxl2'
ID280394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxl2
Ensembl Gene ENSMUSG00000050397
Gene Nameforkhead box L2
SynonymsPfrk
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.794) question?
Stock #IGL02116
Quality Score
Status
Chromosome9
Chromosomal Location98955288-98958543 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98956058 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 133 (M133T)
Ref Sequence ENSEMBL: ENSMUSP00000053297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051312]
Predicted Effect probably damaging
Transcript: ENSMUST00000051312
AA Change: M133T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053297
Gene: ENSMUSG00000050397
AA Change: M133T

DomainStartEndE-ValueType
low complexity region 27 45 N/A INTRINSIC
FH 48 138 2.62e-59 SMART
low complexity region 140 153 N/A INTRINSIC
low complexity region 159 183 N/A INTRINSIC
low complexity region 201 210 N/A INTRINSIC
low complexity region 217 239 N/A INTRINSIC
low complexity region 272 319 N/A INTRINSIC
low complexity region 322 340 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189148
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 encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display increased postnatal lethality. Of animals surving to mating age, males are fully fertile and females are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,673,590 N190K possibly damaging Het
Adamts19 T C 18: 58,837,499 S52P probably benign Het
Ahrr G T 13: 74,220,573 H160Q possibly damaging Het
Ap4s1 T C 12: 51,723,050 probably null Het
Atrn T C 2: 130,958,089 V462A probably damaging Het
D630003M21Rik T C 2: 158,203,210 S800G possibly damaging Het
Dach1 T G 14: 97,901,423 N528T probably damaging Het
Grsf1 A G 5: 88,670,174 probably null Het
Gtpbp4 A G 13: 8,992,736 I43T probably damaging Het
Helz2 T C 2: 181,232,185 Y2172C probably damaging Het
Hey1 G T 3: 8,666,580 probably null Het
Hnrnph3 A T 10: 63,016,076 probably benign Het
Hps1 A T 19: 42,771,129 Y81* probably null Het
Inhba A G 13: 16,026,972 H373R probably benign Het
Leo1 T A 9: 75,449,415 I359K probably damaging Het
Mcoln3 A G 3: 146,133,909 N339D probably benign Het
Mrpl19 G A 6: 81,965,777 P51S probably benign Het
Nadk C A 4: 155,579,306 probably benign Het
Olfr1167 T A 2: 88,149,288 T244S probably benign Het
Olfr235 A G 19: 12,269,010 Y260C probably damaging Het
Pappa2 T G 1: 158,845,125 I1083L probably benign Het
R3hdm2 A G 10: 127,498,552 D948G probably damaging Het
Rbm15 A T 3: 107,330,280 L934Q probably damaging Het
Rec8 T A 14: 55,624,879 probably null Het
Riok1 A G 13: 38,059,956 E486G possibly damaging Het
Rptn A C 3: 93,395,097 E40A possibly damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 T C 1: 45,911,528 T255A probably benign Het
Slc5a8 A T 10: 88,919,500 M490L probably benign Het
Sned1 C A 1: 93,281,725 C62* probably null Het
Sptbn4 T C 7: 27,364,357 T2215A probably benign Het
Synpo T A 18: 60,603,456 R234W probably damaging Het
Tmco3 A T 8: 13,292,706 probably benign Het
Tmprss13 A G 9: 45,333,674 D250G probably benign Het
Vmn2r31 T A 7: 7,394,549 I237F probably damaging Het
Wdr90 A G 17: 25,859,492 V306A probably benign Het
Zfp629 A G 7: 127,612,718 W8R probably damaging Het
Zim1 T C 7: 6,678,254 T137A probably benign Het
Other mutations in Foxl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02374:Foxl2 APN 9 98955832 missense probably damaging 1.00
R0763:Foxl2 UTSW 9 98956033 missense probably damaging 1.00
R0840:Foxl2 UTSW 9 98955931 nonsense probably null
R2102:Foxl2 UTSW 9 98956229 missense probably damaging 1.00
R2140:Foxl2 UTSW 9 98956487 missense unknown
R3429:Foxl2 UTSW 9 98955982 missense probably damaging 1.00
R3765:Foxl2 UTSW 9 98955986 missense probably damaging 1.00
R5186:Foxl2 UTSW 9 98956055 missense probably damaging 1.00
R5655:Foxl2 UTSW 9 98955995 missense probably damaging 1.00
R6803:Foxl2 UTSW 9 98955932 missense probably damaging 1.00
R7042:Foxl2 UTSW 9 98955662 start codon destroyed probably null 0.98
Posted On2015-04-16