Incidental Mutation 'IGL02116:Foxl2'
ID 280394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxl2
Ensembl Gene ENSMUSG00000050397
Gene Name forkhead box L2
Synonyms Pfrk
Accession Numbers
Essential gene? Possibly essential (E-score: 0.720) question?
Stock # IGL02116
Quality Score
Status
Chromosome 9
Chromosomal Location 98837660-98840179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98838111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 133 (M133T)
Ref Sequence ENSEMBL: ENSMUSP00000053297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051312]
AlphaFold O88470
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: 84,981,018 (GRCm39) N190K possibly damaging Het
Adamts19 T C 18: 58,970,571 (GRCm39) S52P probably benign Het
Ahrr G T 13: 74,368,692 (GRCm39) H160Q possibly damaging Het
Ap4s1 T C 12: 51,769,833 (GRCm39) probably null Het
Atrn T C 2: 130,800,009 (GRCm39) V462A probably damaging Het
D630003M21Rik T C 2: 158,045,130 (GRCm39) S800G possibly damaging Het
Dach1 T G 14: 98,138,859 (GRCm39) N528T probably damaging Het
Grsf1 A G 5: 88,818,033 (GRCm39) probably null Het
Gtpbp4 A G 13: 9,042,772 (GRCm39) I43T probably damaging Het
Helz2 T C 2: 180,873,978 (GRCm39) Y2172C probably damaging Het
Hey1 G T 3: 8,731,640 (GRCm39) probably null Het
Hnrnph3 A T 10: 62,851,855 (GRCm39) probably benign Het
Hps1 A T 19: 42,759,568 (GRCm39) Y81* probably null Het
Inhba A G 13: 16,201,557 (GRCm39) H373R probably benign Het
Leo1 T A 9: 75,356,697 (GRCm39) I359K probably damaging Het
Mcoln3 A G 3: 145,839,664 (GRCm39) N339D probably benign Het
Mrpl19 G A 6: 81,942,758 (GRCm39) P51S probably benign Het
Nadk C A 4: 155,663,763 (GRCm39) probably benign Het
Or5an11 A G 19: 12,246,374 (GRCm39) Y260C probably damaging Het
Or5d39 T A 2: 87,979,632 (GRCm39) T244S probably benign Het
Pappa2 T G 1: 158,672,695 (GRCm39) I1083L probably benign Het
R3hdm2 A G 10: 127,334,421 (GRCm39) D948G probably damaging Het
Rbm15 A T 3: 107,237,596 (GRCm39) L934Q probably damaging Het
Rec8 T A 14: 55,862,336 (GRCm39) probably null Het
Riok1 A G 13: 38,243,932 (GRCm39) E486G possibly damaging Het
Rptn A C 3: 93,302,404 (GRCm39) E40A possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 T C 1: 45,950,688 (GRCm39) T255A probably benign Het
Slc5a8 A T 10: 88,755,362 (GRCm39) M490L probably benign Het
Sned1 C A 1: 93,209,447 (GRCm39) C62* probably null Het
Sptbn4 T C 7: 27,063,782 (GRCm39) T2215A probably benign Het
Synpo T A 18: 60,736,528 (GRCm39) R234W probably damaging Het
Tmco3 A T 8: 13,342,706 (GRCm39) probably benign Het
Tmprss13 A G 9: 45,244,972 (GRCm39) D250G probably benign Het
Vmn2r31 T A 7: 7,397,548 (GRCm39) I237F probably damaging Het
Wdr90 A G 17: 26,078,466 (GRCm39) V306A probably benign Het
Zfp629 A G 7: 127,211,890 (GRCm39) W8R probably damaging Het
Zim1 T C 7: 6,681,253 (GRCm39) T137A probably benign Het
Other mutations in Foxl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02374:Foxl2 APN 9 98,837,885 (GRCm39) missense probably damaging 1.00
R0763:Foxl2 UTSW 9 98,838,086 (GRCm39) missense probably damaging 1.00
R0840:Foxl2 UTSW 9 98,837,984 (GRCm39) nonsense probably null
R2102:Foxl2 UTSW 9 98,838,282 (GRCm39) missense probably damaging 1.00
R2140:Foxl2 UTSW 9 98,838,540 (GRCm39) missense unknown
R3429:Foxl2 UTSW 9 98,838,035 (GRCm39) missense probably damaging 1.00
R3765:Foxl2 UTSW 9 98,838,039 (GRCm39) missense probably damaging 1.00
R5186:Foxl2 UTSW 9 98,838,108 (GRCm39) missense probably damaging 1.00
R5655:Foxl2 UTSW 9 98,838,048 (GRCm39) missense probably damaging 1.00
R6803:Foxl2 UTSW 9 98,837,985 (GRCm39) missense probably damaging 1.00
R7042:Foxl2 UTSW 9 98,837,715 (GRCm39) start codon destroyed probably null 0.98
Z1191:Foxl2 UTSW 9 98,838,122 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16