Incidental Mutation 'R3849:Foxp4'
ID 275844
Institutional Source Beutler Lab
Gene Symbol Foxp4
Ensembl Gene ENSMUSG00000023991
Gene Name forkhead box P4
Synonyms 2310007G05Rik, 1200010K03Rik
MMRRC Submission 040897-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.860) question?
Stock # R3849 (G1)
Quality Score 203
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: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (52/52)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik A T 7: 136,978,069 (GRCm39) N102K possibly damaging Het
Abca1 C T 4: 53,061,481 (GRCm39) probably benign Het
Adamts17 T A 7: 66,490,215 (GRCm39) L99Q possibly damaging Het
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Aspm T A 1: 139,386,024 (GRCm39) V556E probably benign Het
Axin1 T A 17: 26,406,771 (GRCm39) Y455N probably benign Het
Cacna2d3 A G 14: 29,069,077 (GRCm39) probably null Het
Car8 T A 4: 8,189,353 (GRCm39) I154F probably benign Het
Ccl27a T A 4: 41,773,232 (GRCm39) T76S probably benign Het
Cep170 G A 1: 176,583,409 (GRCm39) A990V probably benign Het
Chd1 A T 17: 15,952,133 (GRCm39) T291S probably damaging Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Cpa4 T C 6: 30,590,872 (GRCm39) F390S probably damaging Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Dusp8 T C 7: 141,643,802 (GRCm39) E37G probably damaging Het
Efr3b T C 12: 4,033,414 (GRCm39) N131S probably benign Het
Fan1 T C 7: 64,022,119 (GRCm39) Y378C probably damaging Het
Fcgr2b T C 1: 170,795,704 (GRCm39) N75S possibly damaging Het
Gp9 A G 6: 87,756,133 (GRCm39) I49M probably benign Het
Grip1 G A 10: 119,765,863 (GRCm39) G65D probably damaging Het
Hoxc10 T C 15: 102,875,879 (GRCm39) V196A probably benign Het
Hpx A G 7: 105,245,498 (GRCm39) C92R probably damaging Het
Ighv1-22 A G 12: 114,710,301 (GRCm39) F9S possibly damaging Het
Kif24 C T 4: 41,404,734 (GRCm39) R422H probably damaging Het
Klk1b1 T C 7: 43,618,751 (GRCm39) Y43H probably 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
Lysmd1 G A 3: 95,045,772 (GRCm39) G203D probably damaging Het
Mpnd T C 17: 56,318,692 (GRCm39) S150P probably damaging Het
Mrc2 T C 11: 105,183,729 (GRCm39) probably null Het
Mtr A G 13: 12,262,251 (GRCm39) S152P probably benign Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Ndufa13 T C 8: 70,354,260 (GRCm39) D9G probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Nsd1 A G 13: 55,394,504 (GRCm39) T702A probably benign Het
Or7d10 A T 9: 19,832,105 (GRCm39) Y200F probably damaging Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Plxna1 C A 6: 89,333,501 (GRCm39) R376L probably damaging Het
Plxnc1 A G 10: 94,630,294 (GRCm39) V1535A probably benign Het
Prdx5 A G 19: 6,884,218 (GRCm39) L166P probably damaging Het
Prol1 A T 5: 88,476,476 (GRCm39) I289F unknown Het
Prss23 T C 7: 89,158,959 (GRCm39) Y370C probably damaging Het
Rimbp3 A T 16: 17,028,163 (GRCm39) H529L probably benign Het
Rnase2b T A 14: 51,400,205 (GRCm39) H95Q probably damaging 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
Rusf1 C T 7: 127,884,380 (GRCm39) V201I probably damaging Het
Syne2 C T 12: 76,092,839 (GRCm39) Q5150* probably null Het
Tas2r110 T A 6: 132,845,638 (GRCm39) I223N probably damaging Het
Tead2 T A 7: 44,881,752 (GRCm39) probably null Het
Vwa3a A T 7: 120,361,687 (GRCm39) K133* probably null Het
Vwce T C 19: 10,624,269 (GRCm39) S387P probably damaging Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q 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
R3847:Foxp4 UTSW 17 48,186,453 (GRCm39) missense unknown
R3848: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'- CATTCTCCAAGGTGACCGTCTC -3'

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