Incidental Mutation 'R5100:Foxn4'
ID 388212
Institutional Source Beutler Lab
Gene Symbol Foxn4
Ensembl Gene ENSMUSG00000042002
Gene Name forkhead box N4
Synonyms
MMRRC Submission 042689-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5100 (G1)
Quality Score 221
Status Not validated
Chromosome 5
Chromosomal Location 114392225-114411868 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114394820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 369 (L369H)
Ref Sequence ENSEMBL: ENSMUSP00000047951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044790] [ENSMUST00000129530] [ENSMUST00000144050]
AlphaFold Q8K3Q3
Predicted Effect possibly damaging
Transcript: ENSMUST00000044790
AA Change: L369H

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047951
Gene: ENSMUSG00000042002
AA Change: L369H

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
FH 195 287 2.15e-46 SMART
low complexity region 386 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129530
Predicted Effect probably benign
Transcript: ENSMUST00000144050
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004 [PubMed 15363391]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality and abnormal retina morphology with a total loss of horizontal cells and decreased amacrine cell number. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,057,477 (GRCm39) M774K probably damaging Het
Adamts3 G A 5: 89,856,502 (GRCm39) T357I probably damaging Het
Ap3m2 T A 8: 23,279,404 (GRCm39) M408L probably benign Het
Apaf1 A T 10: 90,833,149 (GRCm39) N1116K probably benign Het
Arhgap31 A T 16: 38,421,821 (GRCm39) I1415N probably damaging Het
Arhgef17 A T 7: 100,530,963 (GRCm39) D1374E possibly damaging Het
Asxl1 C G 2: 153,239,851 (GRCm39) N546K probably damaging Het
Cobll1 T A 2: 64,956,245 (GRCm39) T337S probably benign Het
Depdc1a A T 3: 159,221,157 (GRCm39) I163L probably benign Het
Flrt3 T A 2: 140,513,304 (GRCm39) probably null Het
Gm11992 T C 11: 9,011,290 (GRCm39) S244P probably damaging Het
Gm14412 C T 2: 177,006,908 (GRCm39) C329Y probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm5113 G A 7: 29,878,076 (GRCm39) V55M probably damaging Het
Grhl3 A G 4: 135,269,986 (GRCm39) I599T probably benign Het
H2-Q6 G C 17: 35,644,296 (GRCm39) E93Q probably benign Het
Hk3 T C 13: 55,156,843 (GRCm39) T570A probably damaging Het
Hspb8 T C 5: 116,553,468 (GRCm39) I143M probably damaging Het
Kif15 A G 9: 122,821,059 (GRCm39) T655A probably damaging Het
Lpin2 G A 17: 71,550,965 (GRCm39) W708* probably null Het
Lrit1 T A 14: 36,784,171 (GRCm39) C500S possibly damaging Het
Macf1 A C 4: 123,368,261 (GRCm39) C602G probably benign Het
Mesd C T 7: 83,546,977 (GRCm39) R147C probably damaging Het
Mfge8 A T 7: 78,793,048 (GRCm39) D139E probably benign Het
Ncoa3 G A 2: 165,892,017 (GRCm39) R131Q probably damaging Het
Ncoa5 A G 2: 164,851,309 (GRCm39) I188T probably damaging Het
Ngp T C 9: 110,249,069 (GRCm39) L47P probably damaging Het
Nhlrc1 T C 13: 47,167,897 (GRCm39) H120R probably benign Het
Otos T A 1: 92,572,107 (GRCm39) H73L probably damaging Het
Pcsk5 C T 19: 17,492,499 (GRCm39) probably null Het
Phc3 T C 3: 30,976,348 (GRCm39) E740G possibly damaging Het
Pla2g7 T C 17: 43,922,267 (GRCm39) L382P probably damaging Het
Plcd3 C A 11: 102,969,175 (GRCm39) R264L probably benign Het
Pms2 A G 5: 143,865,006 (GRCm39) D696G probably damaging Het
Ptchd4 A T 17: 42,814,567 (GRCm39) I823F possibly damaging Het
Scn9a T C 2: 66,364,463 (GRCm39) R828G probably damaging Het
Spred2 T A 11: 19,971,291 (GRCm39) C386* probably null Het
Terb1 A T 8: 105,221,805 (GRCm39) L165* probably null Het
Tgm2 A T 2: 157,969,084 (GRCm39) S430R probably benign Het
Tnxb A T 17: 34,929,902 (GRCm39) I2879F probably damaging Het
Trpm3 T G 19: 22,896,130 (GRCm39) V977G probably damaging Het
Wnt5b A C 6: 119,417,449 (GRCm39) S139A probably benign Het
Zfp820 C A 17: 22,040,054 (GRCm39) V52L possibly damaging Het
Zfyve26 T A 12: 79,326,832 (GRCm39) R764* probably null Het
Other mutations in Foxn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02990:Foxn4 APN 5 114,411,050 (GRCm39) missense probably damaging 0.98
R0001:Foxn4 UTSW 5 114,398,931 (GRCm39) missense probably damaging 1.00
R0194:Foxn4 UTSW 5 114,397,809 (GRCm39) critical splice donor site probably null
R0555:Foxn4 UTSW 5 114,401,175 (GRCm39) missense probably damaging 1.00
R0617:Foxn4 UTSW 5 114,399,129 (GRCm39) splice site probably benign
R1662:Foxn4 UTSW 5 114,394,955 (GRCm39) missense probably benign
R1785:Foxn4 UTSW 5 114,401,193 (GRCm39) missense probably damaging 0.99
R1786:Foxn4 UTSW 5 114,401,193 (GRCm39) missense probably damaging 0.99
R2266:Foxn4 UTSW 5 114,393,662 (GRCm39) missense probably damaging 0.99
R2267:Foxn4 UTSW 5 114,393,662 (GRCm39) missense probably damaging 0.99
R2268:Foxn4 UTSW 5 114,393,662 (GRCm39) missense probably damaging 0.99
R2269:Foxn4 UTSW 5 114,393,662 (GRCm39) missense probably damaging 0.99
R2397:Foxn4 UTSW 5 114,393,556 (GRCm39) missense probably damaging 1.00
R3121:Foxn4 UTSW 5 114,396,776 (GRCm39) missense probably damaging 0.99
R3122:Foxn4 UTSW 5 114,396,776 (GRCm39) missense probably damaging 0.99
R4579:Foxn4 UTSW 5 114,394,886 (GRCm39) missense possibly damaging 0.65
R4623:Foxn4 UTSW 5 114,398,991 (GRCm39) missense possibly damaging 0.64
R4749:Foxn4 UTSW 5 114,393,628 (GRCm39) missense probably damaging 1.00
R5083:Foxn4 UTSW 5 114,394,988 (GRCm39) missense probably damaging 1.00
R5661:Foxn4 UTSW 5 114,411,053 (GRCm39) missense probably benign
R7015:Foxn4 UTSW 5 114,394,916 (GRCm39) missense possibly damaging 0.95
R7292:Foxn4 UTSW 5 114,396,716 (GRCm39) nonsense probably null
R7342:Foxn4 UTSW 5 114,396,760 (GRCm39) missense probably damaging 1.00
R7627:Foxn4 UTSW 5 114,398,495 (GRCm39) missense possibly damaging 0.87
R7695:Foxn4 UTSW 5 114,394,648 (GRCm39) missense probably damaging 1.00
R7970:Foxn4 UTSW 5 114,401,068 (GRCm39) critical splice donor site probably null
R8037:Foxn4 UTSW 5 114,394,658 (GRCm39) missense probably damaging 1.00
R8038:Foxn4 UTSW 5 114,394,658 (GRCm39) missense probably damaging 1.00
R9339:Foxn4 UTSW 5 114,394,955 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACACCTCACCCTGTAGAGC -3'
(R):5'- AGTTGGACAAGCTCATCTCAGAC -3'

Sequencing Primer
(F):5'- CCCTGTAGAGCGAAGTCCATGATG -3'
(R):5'- TCTCAGACCGCCCGGAAAG -3'
Posted On 2016-06-06