Incidental Mutation 'R3122:Foxn4'
ID 264102
Institutional Source Beutler Lab
Gene Symbol Foxn4
Ensembl Gene ENSMUSG00000042002
Gene Name forkhead box N4
Synonyms
MMRRC Submission 040595-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3122 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 114392225-114411868 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114396776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 236 (T236A)
Ref Sequence ENSEMBL: ENSMUSP00000047951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044790] [ENSMUST00000129530] [ENSMUST00000144050]
AlphaFold Q8K3Q3
Predicted Effect probably damaging
Transcript: ENSMUST00000044790
AA Change: T236A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047951
Gene: ENSMUSG00000042002
AA Change: T236A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147953
Meta Mutation Damage Score 0.3351 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,118,248 (GRCm39) N8S possibly damaging Het
Ago3 A G 4: 126,311,165 (GRCm39) I16T probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Brdt A G 5: 107,525,011 (GRCm39) T851A probably damaging Het
Capn7 A T 14: 31,081,167 (GRCm39) I395F probably damaging Het
Ccbe1 A G 18: 66,199,900 (GRCm39) M274T probably benign Het
Ccdc146 T C 5: 21,499,591 (GRCm39) R864G possibly damaging Het
Ccdc17 G T 4: 116,456,749 (GRCm39) probably benign Het
Ccdc85a C A 11: 28,533,499 (GRCm39) C15F unknown Het
Cpt1c A G 7: 44,609,345 (GRCm39) Y715H probably damaging Het
Dmwd T A 7: 18,814,620 (GRCm39) F423L probably damaging Het
Dock3 C G 9: 106,788,542 (GRCm39) A1598P probably damaging Het
Ext2 A G 2: 93,644,170 (GRCm39) L37P probably damaging Het
Fam120a T C 13: 49,045,562 (GRCm39) D758G possibly damaging Het
Gm9776 A T 13: 94,495,194 (GRCm39) probably benign Het
Grik1 A T 16: 87,803,361 (GRCm39) M277K probably damaging Het
H2-T23 T A 17: 36,341,855 (GRCm39) M248L probably benign Het
Hephl1 A G 9: 15,000,265 (GRCm39) F329S possibly damaging Het
Kif13a G A 13: 46,918,072 (GRCm39) probably benign Het
Knl1 T A 2: 118,899,425 (GRCm39) H375Q probably benign Het
Lox A G 18: 52,658,177 (GRCm39) F332S probably damaging Het
Ltf G A 9: 110,851,968 (GRCm39) C135Y probably damaging Het
Madd A G 2: 91,006,554 (GRCm39) Y347H probably damaging Het
Mboat1 T C 13: 30,422,031 (GRCm39) Y387H probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naip1 T C 13: 100,545,503 (GRCm39) T1342A probably damaging Het
Naip6 T C 13: 100,453,031 (GRCm39) D10G probably benign Het
Nudt8 A G 19: 4,052,015 (GRCm39) R209G possibly damaging Het
Or4c31 G T 2: 88,291,853 (GRCm39) M75I probably damaging Het
Or56a3 T C 7: 104,735,385 (GRCm39) V154A probably benign Het
Or8k35 A T 2: 86,424,954 (GRCm39) Y73N possibly damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Phactr1 T A 13: 43,213,049 (GRCm39) S131T possibly damaging Het
Phactr3 A G 2: 177,973,411 (GRCm39) I475V probably damaging Het
Pip T A 6: 41,828,819 (GRCm39) N121K probably damaging Het
Pla2g4d T C 2: 120,109,384 (GRCm39) R222G probably benign Het
Rbm42 A G 7: 30,349,152 (GRCm39) probably benign Het
Sowahb T C 5: 93,191,261 (GRCm39) D486G possibly damaging Het
Svep1 C T 4: 58,087,845 (GRCm39) V1745I possibly damaging Het
Tnfsf15 T A 4: 63,652,522 (GRCm39) E96D probably benign Het
Vmn1r217 A G 13: 23,298,249 (GRCm39) S218P probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r71 T G 7: 85,264,828 (GRCm39) Y53* probably null Het
Wapl A G 14: 34,451,172 (GRCm39) I729M possibly damaging Het
Wrnip1 A G 13: 32,986,744 (GRCm39) D175G probably benign Het
Zscan2 G A 7: 80,513,092 (GRCm39) A26T probably benign 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
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
R5100:Foxn4 UTSW 5 114,394,820 (GRCm39) missense possibly damaging 0.87
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'- AGCGAGGTCCTTTCGTTTCC -3'
(R):5'- AATTGTGGCCCAACTACAGACC -3'

Sequencing Primer
(F):5'- GAGGTCCTTTCGTTTCCACTTGTG -3'
(R):5'- GCTACTGTGTGCCCCAGTC -3'
Posted On 2015-02-05