Incidental Mutation 'R3847:Foxp4'
ID 277461
Institutional Source Beutler Lab
Gene Symbol Foxp4
Ensembl Gene ENSMUSG00000023991
Gene Name forkhead box P4
Synonyms 2310007G05Rik, 1200010K03Rik
MMRRC Submission 040895-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.860) question?
Stock # R3847 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 48178058-48235401 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48186453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 442 (I442T)
Ref Sequence ENSEMBL: ENSMUSP00000108890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097311] [ENSMUST00000113262] [ENSMUST00000113263] [ENSMUST00000113265]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000097311
AA Change: I455T
SMART Domains Protein: ENSMUSP00000094916
Gene: ENSMUSG00000023991
AA Change: I455T

DomainStartEndE-ValueType
low complexity region 27 46 N/A INTRINSIC
low complexity region 67 87 N/A INTRINSIC
low complexity region 100 173 N/A INTRINSIC
low complexity region 182 208 N/A INTRINSIC
low complexity region 259 270 N/A INTRINSIC
low complexity region 297 308 N/A INTRINSIC
ZnF_C2H2 313 338 3.47e0 SMART
FH 470 552 4.69e-38 SMART
low complexity region 644 658 N/A INTRINSIC
low complexity region 671 683 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000113262
AA Change: I443T
SMART Domains Protein: ENSMUSP00000108887
Gene: ENSMUSG00000023991
AA Change: I443T

DomainStartEndE-ValueType
low complexity region 27 46 N/A INTRINSIC
low complexity region 67 87 N/A INTRINSIC
low complexity region 100 173 N/A INTRINSIC
low complexity region 182 208 N/A INTRINSIC
low complexity region 259 270 N/A INTRINSIC
low complexity region 297 308 N/A INTRINSIC
ZnF_C2H2 313 338 3.47e0 SMART
FH 458 540 4.69e-38 SMART
low complexity region 632 646 N/A INTRINSIC
low complexity region 659 671 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000113263
AA Change: I453T
SMART Domains Protein: ENSMUSP00000108888
Gene: ENSMUSG00000023991
AA Change: I453T

DomainStartEndE-ValueType
low complexity region 27 46 N/A INTRINSIC
low complexity region 67 87 N/A INTRINSIC
low complexity region 100 171 N/A INTRINSIC
low complexity region 180 206 N/A INTRINSIC
low complexity region 257 268 N/A INTRINSIC
low complexity region 295 306 N/A INTRINSIC
ZnF_C2H2 311 336 3.47e0 SMART
FH 468 550 4.69e-38 SMART
low complexity region 642 656 N/A INTRINSIC
low complexity region 669 681 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000113265
AA Change: I442T
SMART Domains Protein: ENSMUSP00000108890
Gene: ENSMUSG00000023991
AA Change: I442T

DomainStartEndE-ValueType
low complexity region 27 46 N/A INTRINSIC
low complexity region 67 87 N/A INTRINSIC
low complexity region 100 173 N/A INTRINSIC
low complexity region 182 208 N/A INTRINSIC
internal_repeat_1 214 282 3.94e-5 PROSPERO
low complexity region 296 307 N/A INTRINSIC
ZnF_C2H2 312 337 3.47e0 SMART
FH 457 539 4.69e-38 SMART
internal_repeat_1 571 627 3.94e-5 PROSPERO
low complexity region 631 645 N/A INTRINSIC
low complexity region 658 670 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154108
Meta Mutation Damage Score 0.1093 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die before E12.5. Foregut closure is delayed leading to the development of two beating hearts and to the failure of the trachea and esophagus to separate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,884,190 (GRCm39) probably null Het
Abcc12 C T 8: 87,280,020 (GRCm39) E338K probably benign Het
Abcc5 A T 16: 20,190,906 (GRCm39) S815T probably benign Het
Ankrd16 G A 2: 11,794,619 (GRCm39) E335K probably benign Het
Atm A G 9: 53,414,375 (GRCm39) F905S possibly damaging Het
Bckdha C T 7: 25,331,077 (GRCm39) R281H probably damaging Het
Blvra C T 2: 126,937,111 (GRCm39) T188I probably damaging Het
Bmp8b C A 4: 123,009,961 (GRCm39) probably benign Het
Cacna2d3 A G 14: 29,069,077 (GRCm39) probably null Het
Cacng8 T C 7: 3,442,990 (GRCm39) S84P probably damaging Het
Cad T A 5: 31,218,994 (GRCm39) V605E probably damaging Het
Ccny A G 18: 9,449,641 (GRCm39) S11P probably benign Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Corin T C 5: 72,579,508 (GRCm39) E155G probably benign Het
Cul9 T C 17: 46,836,061 (GRCm39) Y1195C probably damaging Het
Cyp27a1 A G 1: 74,776,718 (GRCm39) E501G probably damaging Het
Dennd3 T A 15: 73,414,581 (GRCm39) N457K possibly damaging Het
Dnah7a T G 1: 53,540,815 (GRCm39) I2520L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Fgf14 A C 14: 124,217,801 (GRCm39) I234R probably benign Het
Gad2 T G 2: 22,575,000 (GRCm39) D472E probably benign Het
Garnl3 G T 2: 32,882,240 (GRCm39) H832N probably benign Het
Gm13941 T C 2: 110,935,198 (GRCm39) M11V unknown Het
Gnptab T A 10: 88,269,439 (GRCm39) L714* probably null Het
Golgb1 C A 16: 36,719,095 (GRCm39) Q334K probably benign Het
Gp9 A G 6: 87,756,133 (GRCm39) I49M probably benign Het
Guf1 A G 5: 69,718,500 (GRCm39) N213S probably damaging Het
H2-K2 T G 17: 34,216,303 (GRCm39) H281P probably damaging Het
Hhip T A 8: 80,724,124 (GRCm39) M373L probably benign Het
Ifi203 C T 1: 173,761,362 (GRCm39) C229Y possibly damaging Het
Ighv13-2 A G 12: 114,321,418 (GRCm39) L88S probably damaging Het
Kcna3 T C 3: 106,944,012 (GRCm39) Y92H possibly damaging Het
Lmo7 A G 14: 102,159,531 (GRCm39) probably null Het
Lrguk A G 6: 34,050,703 (GRCm39) D387G probably damaging Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Mknk2 C T 10: 80,503,809 (GRCm39) W367* probably null Het
Mocos A G 18: 24,809,719 (GRCm39) K441E probably damaging Het
Mpnd T C 17: 56,318,692 (GRCm39) S150P probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Neurod4 C T 10: 130,106,351 (GRCm39) V308I probably benign Het
Nxf3 C T X: 134,974,732 (GRCm39) V474I probably benign Het
Or10d5j A T 9: 39,867,877 (GRCm39) M118K probably damaging Het
Or8u10 A T 2: 85,915,751 (GRCm39) Y123* probably null Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Pde5a T C 3: 122,596,809 (GRCm39) Y467H probably damaging Het
Pibf1 T A 14: 99,374,557 (GRCm39) V332E possibly damaging Het
Plxna1 C A 6: 89,333,501 (GRCm39) R376L probably damaging Het
Proz A G 8: 13,123,533 (GRCm39) E268G probably benign Het
Rimbp3 A T 16: 17,028,163 (GRCm39) H529L probably benign Het
Rnf103 C G 6: 71,485,859 (GRCm39) C163W probably damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Septin11 G T 5: 93,310,026 (GRCm39) M276I probably damaging Het
Slc30a4 A G 2: 122,544,192 (GRCm39) V50A probably damaging Het
Sorbs1 A G 19: 40,302,887 (GRCm39) V570A probably damaging Het
Spout1 T C 2: 30,067,419 (GRCm39) probably null Het
Syne2 T C 12: 76,095,396 (GRCm39) L5241P probably damaging Het
Tas2r110 T A 6: 132,845,638 (GRCm39) I223N probably damaging Het
Tead2 T A 7: 44,881,752 (GRCm39) probably null Het
Thsd1 A G 8: 22,749,427 (GRCm39) H713R probably damaging Het
Ttc21b A G 2: 66,073,023 (GRCm39) L221S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r105 A G 17: 20,428,952 (GRCm39) I708T possibly damaging Het
Vmn2r117 G T 17: 23,679,389 (GRCm39) H612N probably damaging Het
Wnk1 C T 6: 119,946,315 (GRCm39) G613S possibly damaging Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q probably benign Het
Zfp335 C A 2: 164,742,026 (GRCm39) probably null Het
Zmym2 T A 14: 57,158,956 (GRCm39) probably benign Het
Other mutations in Foxp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Foxp4 APN 17 48,199,078 (GRCm39) missense probably damaging 1.00
IGL02454:Foxp4 APN 17 48,186,507 (GRCm39) nonsense probably null
IGL03048:Foxp4 UTSW 17 48,191,765 (GRCm39) missense unknown
R0138:Foxp4 UTSW 17 48,180,104 (GRCm39) missense unknown
R1180:Foxp4 UTSW 17 48,191,278 (GRCm39) splice site probably benign
R1268:Foxp4 UTSW 17 48,191,278 (GRCm39) splice site probably benign
R1282:Foxp4 UTSW 17 48,186,568 (GRCm39) missense unknown
R1494:Foxp4 UTSW 17 48,191,278 (GRCm39) splice site probably benign
R1845:Foxp4 UTSW 17 48,188,884 (GRCm39) missense probably null
R1956:Foxp4 UTSW 17 48,186,796 (GRCm39) missense unknown
R1958:Foxp4 UTSW 17 48,186,796 (GRCm39) missense unknown
R1969:Foxp4 UTSW 17 48,186,796 (GRCm39) missense unknown
R1970:Foxp4 UTSW 17 48,186,796 (GRCm39) missense unknown
R1971:Foxp4 UTSW 17 48,186,796 (GRCm39) missense unknown
R2240:Foxp4 UTSW 17 48,182,201 (GRCm39) missense unknown
R3848:Foxp4 UTSW 17 48,186,453 (GRCm39) missense unknown
R3849:Foxp4 UTSW 17 48,186,453 (GRCm39) missense unknown
R4345:Foxp4 UTSW 17 48,185,573 (GRCm39) missense unknown
R5572:Foxp4 UTSW 17 48,191,804 (GRCm39) missense unknown
R5726:Foxp4 UTSW 17 48,180,033 (GRCm39) missense unknown
R6386:Foxp4 UTSW 17 48,189,387 (GRCm39) missense unknown
R6510:Foxp4 UTSW 17 48,186,335 (GRCm39) missense unknown
R8087:Foxp4 UTSW 17 48,215,355 (GRCm39) missense probably damaging 1.00
R8290:Foxp4 UTSW 17 48,191,778 (GRCm39) missense unknown
R9272:Foxp4 UTSW 17 48,180,033 (GRCm39) missense unknown
X0025:Foxp4 UTSW 17 48,188,890 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTATGGTCGGGCATCAGGAG -3'
(R):5'- CATTCTCCAAGGTGACCGTC -3'

Sequencing Primer
(F):5'- TCCATGCTTACCTGGCGGATAAG -3'
(R):5'- AAGGTGACCGTCTCCGCAG -3'
Posted On 2015-04-06