Incidental Mutation 'R5521:Foxd4'
ID 484485
Institutional Source Beutler Lab
Gene Symbol Foxd4
Ensembl Gene ENSMUSG00000051490
Gene Name forkhead box D4
Synonyms Fkh2, FREAC5
MMRRC Submission 043080-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5521 (G1)
Quality Score 67
Status Validated
Chromosome 19
Chromosomal Location 24876600-24878561 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 24877007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 398 (C398G)
Ref Sequence ENSEMBL: ENSMUSP00000058575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058600]
AlphaFold Q60688
Predicted Effect probably damaging
Transcript: ENSMUST00000058600
AA Change: C398G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058575
Gene: ENSMUSG00000051490
AA Change: C398G

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.5%
  • 10x: 94.4%
  • 20x: 87.5%
Validation Efficiency 94% (72/77)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,190,980 (GRCm39) probably benign Het
Abhd14a G T 9: 106,321,033 (GRCm39) D107E probably damaging Het
Acat1 T A 9: 53,494,807 (GRCm39) K362* probably null Het
Adad2 T A 8: 120,339,528 (GRCm39) S3R probably benign Het
Adcy8 C A 15: 64,687,199 (GRCm39) R435M probably damaging Het
Adgrv1 A T 13: 81,567,508 (GRCm39) S5222T probably benign Het
Ankk1 A T 9: 49,331,748 (GRCm39) M182K probably benign Het
Apba1 C T 19: 23,870,957 (GRCm39) P263L probably damaging Het
Arhgap39 G A 15: 76,649,694 (GRCm39) S26L possibly damaging Het
Ccng1 G A 11: 40,643,093 (GRCm39) T118I possibly damaging Het
Cenpe T C 3: 134,974,826 (GRCm39) S2329P probably damaging Het
Chil4 A G 3: 106,111,013 (GRCm39) Y294H possibly damaging Het
Chst8 A C 7: 34,374,670 (GRCm39) S390A probably benign Het
Dars1 T C 1: 128,301,710 (GRCm39) D308G probably benign Het
Dlec1 A C 9: 118,972,469 (GRCm39) Q1458P possibly damaging Het
Dvl2 G A 11: 69,897,233 (GRCm39) E312K probably damaging Het
Fchsd1 T C 18: 38,099,537 (GRCm39) H219R probably damaging Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Gm5414 T C 15: 101,536,422 (GRCm39) I68V probably benign Het
Gmip C T 8: 70,270,049 (GRCm39) T684I probably damaging Het
Gpr137c T C 14: 45,516,151 (GRCm39) I295T possibly damaging Het
Hivep1 T A 13: 42,311,804 (GRCm39) M1348K probably damaging Het
Igkv6-23 T C 6: 70,237,597 (GRCm39) D48G probably benign Het
Il3 G A 11: 54,157,958 (GRCm39) T40M possibly damaging Het
Ing2 T C 8: 48,122,248 (GRCm39) E100G probably damaging Het
Itpr3 C A 17: 27,326,308 (GRCm39) H1359Q probably benign Het
Lama1 T A 17: 68,087,889 (GRCm39) Y1502* probably null Het
Mamdc2 C A 19: 23,288,302 (GRCm39) G579W probably damaging Het
Mapk6 G A 9: 75,300,598 (GRCm39) probably benign Het
Mapk8ip2 C T 15: 89,343,007 (GRCm39) R616W probably damaging Het
Mc5r T A 18: 68,472,748 (GRCm39) L369H possibly damaging Het
Meis1 T C 11: 18,938,260 (GRCm39) probably benign Het
Mmp8 A G 9: 7,560,644 (GRCm39) K107R probably benign Het
Mn1 C T 5: 111,569,635 (GRCm39) H1202Y possibly damaging Het
Naip2 A G 13: 100,291,422 (GRCm39) L1172P probably damaging Het
Nek9 C T 12: 85,374,219 (GRCm39) D273N probably benign Het
Nlrp4e A T 7: 23,021,190 (GRCm39) D559V probably benign Het
Nlrp4g T C 9: 124,350,020 (GRCm38) noncoding transcript Het
Oit3 G T 10: 59,271,736 (GRCm39) A207E probably benign Het
Or13j1 A T 4: 43,705,788 (GRCm39) M260K possibly damaging Het
Or14a257 A T 7: 86,137,839 (GRCm39) C307S probably benign Het
Or4d2b A T 11: 87,780,545 (GRCm39) M59K probably damaging Het
Or5w16 A G 2: 87,577,406 (GRCm39) I289V probably benign Het
Pde4c T C 8: 71,200,031 (GRCm39) probably null Het
Ppp1r26 A G 2: 28,341,438 (GRCm39) E356G probably benign Het
Pramel13 A G 4: 144,122,541 (GRCm39) M1T probably null Het
Ptges3-ps T A 6: 85,821,303 (GRCm39) noncoding transcript Het
Ptpn13 T G 5: 103,649,294 (GRCm39) F232L probably benign Het
Reps1 T C 10: 17,979,982 (GRCm39) S114P probably damaging Het
Scarf2 T A 16: 17,621,466 (GRCm39) probably null Het
Sdha A T 13: 74,498,218 (GRCm39) probably benign Het
Secisbp2l A T 2: 125,594,897 (GRCm39) V146D possibly damaging Het
Slc26a8 T A 17: 28,873,833 (GRCm39) T385S probably benign Het
Slc4a1 G A 11: 102,244,092 (GRCm39) T679M probably benign Het
Tbc1d14 T A 5: 36,677,896 (GRCm39) E353V probably damaging Het
Thap2 T A 10: 115,208,665 (GRCm39) K152* probably null Het
Thbd A T 2: 148,249,655 (GRCm39) I71N probably damaging Het
V1ra8 T A 6: 90,180,036 (GRCm39) W80R probably damaging Het
Vmn1r218 A G 13: 23,320,743 (GRCm39) Y30C probably benign Het
Vmn2r60 C A 7: 41,845,049 (GRCm39) T804K probably damaging Het
Vmn2r68 A T 7: 84,882,926 (GRCm39) D275E probably benign Het
Vps13c A G 9: 67,858,721 (GRCm39) I2724V probably benign Het
Xrcc5 C A 1: 72,385,430 (GRCm39) P507Q probably damaging Het
Zfp120 A T 2: 149,959,499 (GRCm39) Y274* probably null Het
Zfp780b C A 7: 27,674,173 (GRCm39) probably null Het
Other mutations in Foxd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02527:Foxd4 APN 19 24,877,178 (GRCm39) missense probably benign
IGL02709:Foxd4 APN 19 24,876,973 (GRCm39) missense probably damaging 0.98
R0544:Foxd4 UTSW 19 24,877,182 (GRCm39) missense possibly damaging 0.95
R1969:Foxd4 UTSW 19 24,877,178 (GRCm39) missense probably benign
R2187:Foxd4 UTSW 19 24,877,219 (GRCm39) missense probably damaging 0.98
R4698:Foxd4 UTSW 19 24,877,625 (GRCm39) missense probably damaging 1.00
R6260:Foxd4 UTSW 19 24,876,968 (GRCm39) missense probably benign 0.02
R6327:Foxd4 UTSW 19 24,878,198 (GRCm39) start codon destroyed possibly damaging 0.89
R6943:Foxd4 UTSW 19 24,877,240 (GRCm39) missense probably damaging 1.00
R7417:Foxd4 UTSW 19 24,877,826 (GRCm39) missense probably damaging 1.00
R7972:Foxd4 UTSW 19 24,877,594 (GRCm39) missense probably damaging 1.00
R8752:Foxd4 UTSW 19 24,878,094 (GRCm39) missense probably damaging 1.00
R9758:Foxd4 UTSW 19 24,877,670 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTTCCATTTTGCCACTTGG -3'
(R):5'- TTCACCATCGAGAGCATCATGC -3'

Sequencing Primer
(F):5'- ACTTGGCTCCAGGTGTGC -3'
(R):5'- GCATCATGCAGGGGGTTAC -3'
Posted On 2017-07-21