Incidental Mutation 'IGL02936:Foxd3'
ID364332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxd3
Ensembl Gene ENSMUSG00000067261
Gene Nameforkhead box D3
SynonymsCWH3, Genesis, Hfh2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02936
Quality Score
Status
Chromosome4
Chromosomal Location99656299-99658622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99656815 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 64 (V64E)
Ref Sequence ENSEMBL: ENSMUSP00000084541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087285]
Predicted Effect probably benign
Transcript: ENSMUST00000087285
AA Change: V64E

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000084541
Gene: ENSMUSG00000067261
AA Change: V64E

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
low complexity region 99 121 N/A INTRINSIC
FH 129 219 1.01e-60 SMART
low complexity region 247 312 N/A INTRINSIC
low complexity region 323 334 N/A INTRINSIC
low complexity region 338 353 N/A INTRINSIC
low complexity region 373 404 N/A INTRINSIC
low complexity region 451 461 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175022
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 belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for null alleles dsiplay embryonic lethality with failure of primitive streak formation and gastrulation and failure to derive cultures of embryonic or trophoblast stem cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,258,404 T229I possibly damaging Het
Acad11 T C 9: 104,113,512 S439P probably benign Het
Acer2 A T 4: 86,900,559 N148I possibly damaging Het
Adgre1 A G 17: 57,478,833 I860V probably benign Het
Asb2 A G 12: 103,335,914 I125T probably benign Het
Atp13a2 G T 4: 141,001,949 L614F probably benign Het
Car7 A G 8: 104,548,222 T132A possibly damaging Het
Ccdc36 T C 9: 108,412,503 I173M possibly damaging Het
Cfap221 T C 1: 119,984,752 D135G probably damaging Het
Crtc3 A G 7: 80,589,763 F614L probably damaging Het
Csn3 T G 5: 87,930,133 I166S possibly damaging Het
Dna2 T G 10: 62,957,100 L298R probably damaging Het
Ece1 T C 4: 137,946,301 S387P probably benign Het
Fbxo28 C T 1: 182,341,528 G15D unknown Het
Fbxw24 A T 9: 109,624,958 probably null Het
Galnt7 A C 8: 57,584,214 V47G probably benign Het
Gcc2 A T 10: 58,296,140 L1453F probably damaging Het
Gcnt4 G A 13: 96,946,411 V72I probably benign Het
Gm10269 A C 18: 20,682,953 probably null Het
Hmcn1 T G 1: 150,697,522 Q2125H probably damaging Het
Llcfc1 T A 6: 41,684,659 S48T probably benign Het
Met G T 6: 17,553,397 V1061F probably damaging Het
Mthfd2 G A 6: 83,311,360 H138Y probably damaging Het
Mtus1 A T 8: 40,999,517 D1041E possibly damaging Het
Mug2 G A 6: 122,081,387 probably null Het
Nos3 C T 5: 24,380,993 T878I probably damaging Het
Olfr1211 A G 2: 88,929,784 M177T probably benign Het
Olfr690 A T 7: 105,330,005 Y62* probably null Het
Pbrm1 T A 14: 31,061,513 V497D probably damaging Het
Plcd1 T C 9: 119,074,199 E471G probably damaging Het
Poc1a A G 9: 106,285,027 T84A probably damaging Het
Ppm1f A G 16: 16,915,236 H209R probably damaging Het
Rccd1 T A 7: 80,317,046 K329N probably damaging Het
Serpinb9g A T 13: 33,494,882 N245I possibly damaging Het
Slc22a26 A C 19: 7,791,105 F196V probably damaging Het
Tial1 G A 7: 128,442,663 probably benign Het
Trpa1 A T 1: 14,875,969 probably null Het
Vmn1r15 A T 6: 57,258,818 K224* probably null Het
Wdr72 A T 9: 74,152,580 D424V probably damaging Het
Wt1 A G 2: 105,169,039 K308E probably damaging Het
Zwint T C 10: 72,657,124 S193P probably damaging Het
Other mutations in Foxd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02483:Foxd3 APN 4 99657028 missense probably damaging 1.00
IGL03392:Foxd3 APN 4 99657195 missense probably damaging 0.99
FR4304:Foxd3 UTSW 4 99657396 small deletion probably benign
R3899:Foxd3 UTSW 4 99657499 missense unknown
R5034:Foxd3 UTSW 4 99657090 missense probably damaging 0.98
R6226:Foxd3 UTSW 4 99657024 missense probably damaging 1.00
R6244:Foxd3 UTSW 4 99657240 missense possibly damaging 0.48
R6272:Foxd3 UTSW 4 99656740 missense probably damaging 1.00
R7152:Foxd3 UTSW 4 99657325 missense probably benign 0.02
R7676:Foxd3 UTSW 4 99656914 missense probably damaging 0.98
R7762:Foxd3 UTSW 4 99657125 nonsense probably null
R7908:Foxd3 UTSW 4 99657339 missense probably benign 0.14
R7993:Foxd3 UTSW 4 99656604 start gained probably benign
RF026:Foxd3 UTSW 4 99657396 small deletion probably benign
RF036:Foxd3 UTSW 4 99657396 small deletion probably benign
RF038:Foxd3 UTSW 4 99657396 small deletion probably benign
Z1176:Foxd3 UTSW 4 99657066 missense probably damaging 1.00
Posted On2015-12-18