Incidental Mutation 'IGL02990:Foxn4'
ID 406895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxn4
Ensembl Gene ENSMUSG00000042002
Gene Name forkhead box N4
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02990
Quality Score
Status
Chromosome 5
Chromosomal Location 114254164-114273807 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114272989 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 24 (S24P)
Ref Sequence ENSEMBL: ENSMUSP00000047951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044790] [ENSMUST00000144050]
AlphaFold Q8K3Q3
Predicted Effect probably damaging
Transcript: ENSMUST00000044790
AA Change: S24P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047951
Gene: ENSMUSG00000042002
AA Change: S24P

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: ENSMUST00000144050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147953
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,163,206 V205F probably benign Het
Ampd3 T C 7: 110,807,963 probably benign Het
Arhgef18 G A 8: 3,444,904 V388I probably benign Het
Atp6v1c2 C T 12: 17,294,740 V169I probably damaging Het
Ccdc88b G T 19: 6,847,409 L1328I probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cluh G A 11: 74,667,765 probably null Het
Cpsf7 C A 19: 10,531,795 N23K probably benign Het
Cyp4x1 A T 4: 115,121,749 F191L probably benign Het
Dcn A G 10: 97,509,973 T216A probably benign Het
Dirc2 C A 16: 35,735,491 V200F possibly damaging Het
Drosha C T 15: 12,827,267 probably benign Het
Gm11733 A T 11: 117,486,983 probably null Het
Hapln1 A C 13: 89,601,606 Y90S probably benign Het
Igf2r C A 17: 12,710,746 probably benign Het
Jade2 A G 11: 51,831,247 probably benign Het
Kcnh7 A T 2: 62,705,986 L1084H probably benign Het
Kif1a T C 1: 93,039,263 D1155G probably damaging Het
Llgl2 A G 11: 115,854,333 M958V probably benign Het
Lrp2 A G 2: 69,441,396 V4064A possibly damaging Het
Mau2 A G 8: 70,022,255 probably benign Het
Mllt10 T C 2: 18,123,711 probably benign Het
Myo15 A G 11: 60,479,440 T1009A probably benign Het
Myo6 T C 9: 80,276,403 probably null Het
Neil2 G T 14: 63,191,809 H12N possibly damaging Het
Nrde2 T C 12: 100,142,096 E412G probably damaging Het
Olfr114 C T 17: 37,589,668 M228I probably benign Het
Olfr1220 T C 2: 89,097,129 Y266C possibly damaging Het
Patl2 T G 2: 122,124,497 probably null Het
Pkhd1 T C 1: 20,522,963 H1642R possibly damaging Het
Ppp6r1 A G 7: 4,643,023 I199T possibly damaging Het
Prom2 T A 2: 127,528,814 T817S probably benign Het
Slc9b1 A G 3: 135,394,983 probably null Het
Sv2c A T 13: 96,088,378 I141K probably damaging Het
Tas2r139 A T 6: 42,141,104 I57F probably damaging Het
Tep1 A G 14: 50,868,246 S106P possibly damaging Het
Tnni3k T C 3: 154,957,758 D319G probably benign Het
Tom1l2 C T 11: 60,230,236 D461N probably damaging Het
Ugt1a10 T C 1: 88,055,879 L133S probably damaging Het
Usf2 T G 7: 30,955,307 Q161P probably benign Het
Vmn1r15 A G 6: 57,258,608 T154A probably benign Het
Vmn2r95 C A 17: 18,452,036 Y678* probably null Het
Other mutations in Foxn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0001:Foxn4 UTSW 5 114260870 missense probably damaging 1.00
R0194:Foxn4 UTSW 5 114259748 critical splice donor site probably null
R0555:Foxn4 UTSW 5 114263114 missense probably damaging 1.00
R0617:Foxn4 UTSW 5 114261068 splice site probably benign
R1662:Foxn4 UTSW 5 114256894 missense probably benign
R1785:Foxn4 UTSW 5 114263132 missense probably damaging 0.99
R1786:Foxn4 UTSW 5 114263132 missense probably damaging 0.99
R2266:Foxn4 UTSW 5 114255601 missense probably damaging 0.99
R2267:Foxn4 UTSW 5 114255601 missense probably damaging 0.99
R2268:Foxn4 UTSW 5 114255601 missense probably damaging 0.99
R2269:Foxn4 UTSW 5 114255601 missense probably damaging 0.99
R2397:Foxn4 UTSW 5 114255495 missense probably damaging 1.00
R3121:Foxn4 UTSW 5 114258715 missense probably damaging 0.99
R3122:Foxn4 UTSW 5 114258715 missense probably damaging 0.99
R4579:Foxn4 UTSW 5 114256825 missense possibly damaging 0.65
R4623:Foxn4 UTSW 5 114260930 missense possibly damaging 0.64
R4749:Foxn4 UTSW 5 114255567 missense probably damaging 1.00
R5083:Foxn4 UTSW 5 114256927 missense probably damaging 1.00
R5100:Foxn4 UTSW 5 114256759 missense possibly damaging 0.87
R5661:Foxn4 UTSW 5 114272992 missense probably benign
R7015:Foxn4 UTSW 5 114256855 missense possibly damaging 0.95
R7292:Foxn4 UTSW 5 114258655 nonsense probably null
R7342:Foxn4 UTSW 5 114258699 missense probably damaging 1.00
R7627:Foxn4 UTSW 5 114260434 missense possibly damaging 0.87
R7695:Foxn4 UTSW 5 114256587 missense probably damaging 1.00
R7970:Foxn4 UTSW 5 114263007 critical splice donor site probably null
R8037:Foxn4 UTSW 5 114256597 missense probably damaging 1.00
R8038:Foxn4 UTSW 5 114256597 missense probably damaging 1.00
R9339:Foxn4 UTSW 5 114256894 missense probably benign
Posted On 2016-08-02