Incidental Mutation 'IGL02374:Foxl2'
ID 291032
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? Probably essential (E-score: 0.762) question?
Stock # IGL02374
Quality Score
Status
Chromosome 9
Chromosomal Location 98837660-98840179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98837885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 58 (L58F)
Ref Sequence ENSEMBL: ENSMUSP00000053297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051312]
AlphaFold O88470
Predicted Effect probably damaging
Transcript: ENSMUST00000051312
AA Change: L58F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053297
Gene: ENSMUSG00000050397
AA Change: L58F

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5b T C 2: 15,073,003 (GRCm39) Y35H probably damaging Het
Cnksr3 A G 10: 7,070,335 (GRCm39) S300P probably damaging Het
Col27a1 T C 4: 63,211,486 (GRCm39) S1013P possibly damaging Het
Cyp39a1 A G 17: 44,060,872 (GRCm39) probably benign Het
Deptor G T 15: 55,044,357 (GRCm39) L174F probably damaging Het
Fah T C 7: 84,254,909 (GRCm39) E8G probably benign Het
Fastk C A 5: 24,649,247 (GRCm39) A47S possibly damaging Het
Gm57858 T C 3: 36,074,108 (GRCm39) Q347R possibly damaging Het
Igf2bp2 G T 16: 21,900,618 (GRCm39) H106Q probably benign Het
Igkv12-47 T C 6: 69,727,959 (GRCm39) T71A probably benign Het
Ino80d T C 1: 63,125,220 (GRCm39) I81V possibly damaging Het
Ints9 G A 14: 65,276,782 (GRCm39) E650K probably benign Het
Klc2 T C 19: 5,160,438 (GRCm39) N408S possibly damaging Het
Klhl32 A T 4: 24,743,856 (GRCm39) probably null Het
Ksr1 C T 11: 78,919,317 (GRCm39) G504D probably benign Het
Lonp2 C A 8: 87,435,673 (GRCm39) D636E probably damaging Het
Lpin3 G A 2: 160,737,758 (GRCm39) probably benign Het
Mcmdc2 C T 1: 9,982,207 (GRCm39) A56V possibly damaging Het
Or10al7 A T 17: 38,366,412 (GRCm39) V24D probably damaging Het
Or4p8 A T 2: 88,727,803 (GRCm39) I46N probably damaging Het
Pex1 T C 5: 3,685,481 (GRCm39) I1163T probably benign Het
Ppp1r3a C T 6: 14,718,599 (GRCm39) V772I probably damaging Het
Ptbp2 A T 3: 119,514,342 (GRCm39) probably benign Het
Rell1 A T 5: 64,095,151 (GRCm39) I105K possibly damaging Het
Sis A T 3: 72,832,789 (GRCm39) S1003T probably benign Het
Slc26a3 T A 12: 31,520,832 (GRCm39) probably benign Het
Stap1 G A 5: 86,244,410 (GRCm39) G264R probably damaging Het
Tmem176b T C 6: 48,811,560 (GRCm39) N30D possibly damaging Het
Tmprss15 A T 16: 78,832,056 (GRCm39) Y367N probably benign Het
Ttc41 A G 10: 86,611,815 (GRCm39) D1061G probably damaging Het
Ufl1 A C 4: 25,259,237 (GRCm39) D460E probably benign Het
Vmn2r104 T C 17: 20,263,048 (GRCm39) I138V probably benign Het
Wdfy2 T C 14: 63,171,833 (GRCm39) S194P probably benign Het
Zfp408 A C 2: 91,476,156 (GRCm39) C333G probably damaging Het
Zfp592 T C 7: 80,674,731 (GRCm39) V565A probably damaging Het
Other mutations in Foxl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02116:Foxl2 APN 9 98,838,111 (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