Incidental Mutation 'IGL03233:Foxp3'
ID413991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxp3
Ensembl Gene ENSMUSG00000039521
Gene Nameforkhead box P3
Synonymsscurfin, JM2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03233
Quality Score
Status
ChromosomeX
Chromosomal Location7579676-7595243 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 7587423 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045566] [ENSMUST00000115738] [ENSMUST00000115739] [ENSMUST00000115740]
Predicted Effect probably benign
Transcript: ENSMUST00000045566
SMART Domains Protein: ENSMUSP00000041953
Gene: ENSMUSG00000039521

DomainStartEndE-ValueType
low complexity region 56 76 N/A INTRINSIC
ZnF_C2H2 196 221 2.02e-1 SMART
low complexity region 232 252 N/A INTRINSIC
FH 335 417 3.9e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115738
SMART Domains Protein: ENSMUSP00000111403
Gene: ENSMUSG00000039521

DomainStartEndE-ValueType
low complexity region 56 76 N/A INTRINSIC
ZnF_C2H2 196 221 2.02e-1 SMART
low complexity region 232 252 N/A INTRINSIC
FH 335 417 3.9e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115739
SMART Domains Protein: ENSMUSP00000111404
Gene: ENSMUSG00000039521

DomainStartEndE-ValueType
low complexity region 56 76 N/A INTRINSIC
ZnF_C2H2 196 221 2.02e-1 SMART
low complexity region 232 252 N/A INTRINSIC
FH 335 417 3.9e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115740
SMART Domains Protein: ENSMUSP00000111405
Gene: ENSMUSG00000039521

DomainStartEndE-ValueType
low complexity region 56 76 N/A INTRINSIC
ZnF_C2H2 196 221 2.02e-1 SMART
low complexity region 232 252 N/A INTRINSIC
FH 335 417 3.9e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126170
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene result in the scurfy phenotype (sf). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Hemizygous mutant males exhibit scaly skin, reddening and swelling of genital papilla, small undescended testes, depressed platelet and red cell counts, and lymphohistiocytic proliferation in various organs. Mutants die around weaning age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,342,120 F856S probably damaging Het
Ak7 A G 12: 105,761,480 D457G probably damaging Het
Ankrd26 G T 6: 118,535,146 probably null Het
Ano5 C A 7: 51,570,368 P405T probably damaging Het
Asah2 T A 19: 32,054,631 N46I probably benign Het
Atg4c A T 4: 99,229,503 Y343F probably benign Het
Cab39 T A 1: 85,842,323 M175K probably benign Het
Cadps2 T C 6: 23,263,601 E1257G probably benign Het
Casc1 A T 6: 145,181,885 Y433N probably damaging Het
Ces1d A G 8: 93,195,079 Y19H probably benign Het
Cst6 T C 19: 5,349,261 D25G probably damaging Het
Cyp4a30b A T 4: 115,458,970 T298S probably benign Het
Dgkk T C X: 6,903,838 L352P probably damaging Het
Dync2h1 A C 9: 7,101,525 F482V possibly damaging Het
Esco1 A G 18: 10,574,877 W208R probably damaging Het
Fbn2 T C 18: 58,102,377 D676G probably benign Het
Gpr108 T A 17: 57,245,042 I123F probably benign Het
Gsdmc4 A T 15: 63,902,860 V24E probably damaging Het
Jam3 C A 9: 27,101,921 V118F probably damaging Het
Kif23 T A 9: 61,926,453 I489F probably benign Het
Lama3 T A 18: 12,481,038 V1288D probably damaging Het
Mark2 G T 19: 7,284,726 H308N possibly damaging Het
Mms19 T C 19: 41,946,913 probably null Het
Neb A T 2: 52,308,301 I477N possibly damaging Het
Npm1 G T 11: 33,156,717 Q204K probably benign Het
Nsun5 G A 5: 135,375,445 V369M probably damaging Het
Olfr1355 C A 10: 78,879,572 Y133* probably null Het
Pcdhb13 T A 18: 37,444,265 N565K probably damaging Het
Pla2r1 A G 2: 60,428,580 F1155L possibly damaging Het
Pus10 T A 11: 23,712,241 W304R probably damaging Het
Rab32 G A 10: 10,546,313 Q221* probably null Het
Rlf A G 4: 121,182,600 probably benign Het
Robo1 A T 16: 72,970,193 I418F probably damaging Het
Slc44a2 T C 9: 21,348,622 I642T possibly damaging Het
Ston2 T A 12: 91,647,853 T594S probably damaging Het
Szt2 T C 4: 118,372,529 T2802A unknown Het
Tshz3 T A 7: 36,770,079 Y498N probably damaging Het
Zfp280b T A 10: 76,039,769 I494N probably damaging Het
Zfp281 A G 1: 136,626,829 Q515R possibly damaging Het
Other mutations in Foxp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
crusty UTSW X 7592654 missense probably damaging 1.00
R0479:Foxp3 UTSW X 7587344 missense possibly damaging 0.68
R0654:Foxp3 UTSW X 7591400 missense probably benign 0.02
Posted On2016-08-02