Incidental Mutation 'IGL03233:Foxp3'
ID 413991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxp3
Ensembl Gene ENSMUSG00000039521
Gene Name forkhead box P3
Synonyms JM2, scurfin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03233
Quality Score
Status
Chromosome X
Chromosomal Location 7445915-7461482 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 7453662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045566] [ENSMUST00000115738] [ENSMUST00000115739] [ENSMUST00000115740]
AlphaFold Q99JB6
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: 86,260,357 (GRCm39) F856S probably damaging Het
Ak7 A G 12: 105,727,739 (GRCm39) D457G probably damaging Het
Ankrd26 G T 6: 118,512,107 (GRCm39) probably null Het
Ano5 C A 7: 51,220,116 (GRCm39) P405T probably damaging Het
Asah2 T A 19: 32,032,031 (GRCm39) N46I probably benign Het
Atg4c A T 4: 99,117,740 (GRCm39) Y343F probably benign Het
Cab39 T A 1: 85,770,044 (GRCm39) M175K probably benign Het
Cadps2 T C 6: 23,263,600 (GRCm39) E1257G probably benign Het
Ces1d A G 8: 93,921,707 (GRCm39) Y19H probably benign Het
Cst6 T C 19: 5,399,289 (GRCm39) D25G probably damaging Het
Cyp4a30b A T 4: 115,316,167 (GRCm39) T298S probably benign Het
Dgkk T C X: 6,770,077 (GRCm39) L352P probably damaging Het
Dnai7 A T 6: 145,127,611 (GRCm39) Y433N probably damaging Het
Dync2h1 A C 9: 7,101,525 (GRCm39) F482V possibly damaging Het
Esco1 A G 18: 10,574,877 (GRCm39) W208R probably damaging Het
Fbn2 T C 18: 58,235,449 (GRCm39) D676G probably benign Het
Gpr108 T A 17: 57,552,042 (GRCm39) I123F probably benign Het
Gsdmc4 A T 15: 63,774,709 (GRCm39) V24E probably damaging Het
Jam3 C A 9: 27,013,217 (GRCm39) V118F probably damaging Het
Kif23 T A 9: 61,833,735 (GRCm39) I489F probably benign Het
Lama3 T A 18: 12,614,095 (GRCm39) V1288D probably damaging Het
Mark2 G T 19: 7,262,091 (GRCm39) H308N possibly damaging Het
Mms19 T C 19: 41,935,352 (GRCm39) probably null Het
Neb A T 2: 52,198,313 (GRCm39) I477N possibly damaging Het
Npm1 G T 11: 33,106,717 (GRCm39) Q204K probably benign Het
Nsun5 G A 5: 135,404,299 (GRCm39) V369M probably damaging Het
Or7a39 C A 10: 78,715,406 (GRCm39) Y133* probably null Het
Pcdhb13 T A 18: 37,577,318 (GRCm39) N565K probably damaging Het
Pla2r1 A G 2: 60,258,924 (GRCm39) F1155L possibly damaging Het
Pus10 T A 11: 23,662,241 (GRCm39) W304R probably damaging Het
Rab32 G A 10: 10,422,057 (GRCm39) Q221* probably null Het
Rlf A G 4: 121,039,797 (GRCm39) probably benign Het
Robo1 A T 16: 72,767,081 (GRCm39) I418F probably damaging Het
Slc44a2 T C 9: 21,259,918 (GRCm39) I642T possibly damaging Het
Ston2 T A 12: 91,614,627 (GRCm39) T594S probably damaging Het
Szt2 T C 4: 118,229,726 (GRCm39) T2802A unknown Het
Tshz3 T A 7: 36,469,504 (GRCm39) Y498N probably damaging Het
Zfp280b T A 10: 75,875,603 (GRCm39) I494N probably damaging Het
Zfp281 A G 1: 136,554,567 (GRCm39) Q515R possibly damaging Het
Other mutations in Foxp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
crusty UTSW X 7,458,893 (GRCm39) missense probably damaging 1.00
R0479:Foxp3 UTSW X 7,453,583 (GRCm39) missense possibly damaging 0.68
R0654:Foxp3 UTSW X 7,457,639 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02