Incidental Mutation 'IGL02709:Foxd4'
ID304510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxd4
Ensembl Gene ENSMUSG00000051490
Gene Nameforkhead box D4
SynonymsFkh2, FREAC5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02709
Quality Score
Status
Chromosome19
Chromosomal Location24898965-24901309 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24899609 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 409 (H409R)
Ref Sequence ENSEMBL: ENSMUSP00000058575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058600]
Predicted Effect probably damaging
Transcript: ENSMUST00000058600
AA Change: H409R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058575
Gene: ENSMUSG00000051490
AA Change: H409R

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
low complexity region 32 47 N/A INTRINSIC
low complexity region 86 96 N/A INTRINSIC
FH 101 191 5.83e-57 SMART
low complexity region 243 257 N/A INTRINSIC
low complexity region 348 361 N/A INTRINSIC
low complexity region 377 389 N/A INTRINSIC
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 member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. Mutations in this gene are associated with a complex phenotype consisting of dilated cardiomyopathy, obsessive-compulsive disorders, and suicidality. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 G A 4: 40,180,199 V367M possibly damaging Het
Acsm5 G A 7: 119,534,818 W274* probably null Het
Ago1 G A 4: 126,453,640 Q135* probably null Het
AI314180 A G 4: 58,872,699 S201P possibly damaging Het
Bmpr1b A T 3: 141,856,553 L291Q probably damaging Het
Cdcp1 A G 9: 123,173,814 Y731H probably damaging Het
Clrn2 A G 5: 45,460,153 N122S probably damaging Het
Col4a3 G T 1: 82,679,112 G751W unknown Het
Ctsc C T 7: 88,308,139 A294V probably damaging Het
Cyp26a1 T C 19: 37,699,978 L316P probably damaging Het
Dennd6b A T 15: 89,190,922 probably benign Het
Dnah10 T A 5: 124,773,745 Y1659* probably null Het
Dspp A C 5: 104,177,250 D493A unknown Het
Dyrk1a C T 16: 94,685,243 A445V probably benign Het
E030025P04Rik C A 11: 109,139,498 probably benign Het
Fubp3 A G 2: 31,595,331 probably benign Het
Gm5538 A G 3: 59,747,198 Y151C probably damaging Het
Herc1 A G 9: 66,497,680 K4511E probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map1lc3b T A 8: 121,596,029 L82Q probably damaging Het
Mcc A T 18: 44,445,810 S844T possibly damaging Het
Mccc1 A T 3: 35,990,739 *85K probably null Het
Memo1 G A 17: 74,245,032 L90F probably damaging Het
Mfrp A G 9: 44,103,264 H236R probably benign Het
Mmrn1 G A 6: 60,973,046 D327N probably damaging Het
Mycbp2 T C 14: 103,155,261 E3178G probably damaging Het
Pcsk9 A G 4: 106,447,689 probably benign Het
Pros1 T C 16: 62,898,945 L110P probably damaging Het
Reck A G 4: 43,913,791 Y215C probably damaging Het
Ripk4 T C 16: 97,743,566 D627G probably damaging Het
Rnf144a G T 12: 26,321,010 H151N probably damaging Het
Slc39a9 T A 12: 80,666,647 H106Q probably damaging Het
Stab2 A G 10: 86,846,165 probably benign Het
Sympk T G 7: 19,047,538 H806Q probably benign Het
Tars2 C A 3: 95,742,071 probably benign Het
Thap3 T A 4: 151,985,712 H75L probably damaging Het
Trappc8 T C 18: 20,837,178 I918M possibly damaging Het
Ube2j2 T C 4: 155,957,331 V249A probably damaging Het
Ubqln3 T G 7: 104,141,336 T516P probably benign Het
Unc13c A G 9: 73,558,956 S1810P probably benign Het
Vmn1r4 T A 6: 56,956,539 Y9* probably null Het
Vmn1r89 T A 7: 13,220,204 M221K probably damaging Het
Vmn2r1 G T 3: 64,104,934 V739F probably benign Het
Vmn2r25 C T 6: 123,839,764 R286Q possibly damaging Het
Vmn2r91 T A 17: 18,105,449 Y110N possibly damaging Het
Zbtb48 T C 4: 152,021,394 H418R probably damaging Het
Other mutations in Foxd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02527:Foxd4 APN 19 24899814 missense probably benign
R0544:Foxd4 UTSW 19 24899818 missense possibly damaging 0.95
R1969:Foxd4 UTSW 19 24899814 missense probably benign
R2187:Foxd4 UTSW 19 24899855 missense probably damaging 0.98
R4698:Foxd4 UTSW 19 24900261 missense probably damaging 1.00
R5521:Foxd4 UTSW 19 24899643 missense probably damaging 0.99
R6260:Foxd4 UTSW 19 24899604 missense probably benign 0.02
R6327:Foxd4 UTSW 19 24900834 start codon destroyed possibly damaging 0.89
R6943:Foxd4 UTSW 19 24899876 missense probably damaging 1.00
R7417:Foxd4 UTSW 19 24900462 missense probably damaging 1.00
Posted On2015-04-16