Incidental Mutation 'R1506:Foxn1'
ID 167945
Institutional Source Beutler Lab
Gene Symbol Foxn1
Ensembl Gene ENSMUSG00000002057
Gene Name forkhead box N1
Synonyms whn, D11Bhm185e, Hfh11
MMRRC Submission 039554-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1506 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78248403-78277384 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 78256761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108294]
AlphaFold Q61575
Predicted Effect probably benign
Transcript: ENSMUST00000108294
SMART Domains Protein: ENSMUSP00000103929
Gene: ENSMUSG00000002057

FH 269 361 2.43e-45 SMART
low complexity region 392 409 N/A INTRINSIC
low complexity region 422 435 N/A INTRINSIC
low complexity region 517 530 N/A INTRINSIC
low complexity region 558 586 N/A INTRINSIC
low complexity region 593 609 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: The protein encoded by this gene is part of the forkhead family or "winged-helix" transcription factors that are important in developmental processes, immune system regulation, metabolism, cancer and aging. This gene family has over 100 members, subdivided into classes (A-Q) based on phylogeny. The encoded protein is proposed to regulate development of the thymus and differentiation of keratinocytes. Mutations in this gene cause severe primary T-cell immunodeficiency and congenital alopecia. In mouse mutations of this gene underlie the phenotype of the nude mouse, which has been widely used as a model system in oncology, immunology, dermatology, and transplantation studies. In humans mutations in this gene have been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygotes for different mutations have in genetically determined absence or loss of hair and failed hair keratinization, premature lethality (differing by genetic background) and absence of thymus, resulting in multiple immune abnormalities. Heterozygotes have enlarged thymuses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 G T 11: 94,248,144 (GRCm39) T1152K possibly damaging Het
Acp3 T A 9: 104,201,373 (GRCm39) T82S probably damaging Het
Adam23 C T 1: 63,586,973 (GRCm39) P445S probably benign Het
Ap3b1 T A 13: 94,582,651 (GRCm39) probably benign Het
Artn A G 4: 117,784,058 (GRCm39) V136A probably damaging Het
Ash1l A G 3: 88,965,806 (GRCm39) T2403A probably damaging Het
Bbof1 G T 12: 84,470,273 (GRCm39) V120L probably damaging Het
Boc A G 16: 44,323,928 (GRCm39) Y158H probably damaging Het
Casp8 A G 1: 58,863,355 (GRCm39) E105G probably damaging Het
Cers4 T C 8: 4,570,557 (GRCm39) F206L probably benign Het
Chrna9 A G 5: 66,126,479 (GRCm39) T78A probably benign Het
Creb3 A T 4: 43,566,193 (GRCm39) T263S possibly damaging Het
Cyp2c40 A G 19: 39,766,443 (GRCm39) V384A probably damaging Het
Dip2b G A 15: 100,080,994 (GRCm39) V879M probably damaging Het
Dnah17 C A 11: 118,016,213 (GRCm39) V14F possibly damaging Het
Epb41l4b T A 4: 57,088,824 (GRCm39) K144N probably damaging Het
Ercc6 A T 14: 32,291,821 (GRCm39) I1062F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fat2 C A 11: 55,175,090 (GRCm39) E1874D probably benign Het
Fbxw21 T A 9: 108,977,257 (GRCm39) I151F probably damaging Het
Fhip2a A G 19: 57,357,007 (GRCm39) I33V probably benign Het
Gpr63 G A 4: 25,008,227 (GRCm39) R317H probably damaging Het
Grip1 C A 10: 119,814,356 (GRCm39) H296N probably damaging Het
Gtdc1 A T 2: 44,465,506 (GRCm39) M288K possibly damaging Het
Guf1 T A 5: 69,724,509 (GRCm39) D488E possibly damaging Het
Gvin3 C T 7: 106,200,788 (GRCm39) D819N probably benign Het
Heatr5b C A 17: 79,060,576 (GRCm39) R2033L probably damaging Het
Hsd17b2 T A 8: 118,429,004 (GRCm39) probably null Het
Ino80 A T 2: 119,255,746 (GRCm39) L913* probably null Het
Inppl1 A C 7: 101,473,174 (GRCm39) S1159A probably benign Het
Kcnk7 G A 19: 5,756,140 (GRCm39) C122Y probably damaging Het
Mtor A G 4: 148,620,962 (GRCm39) probably benign Het
Muc4 A T 16: 32,574,033 (GRCm39) S704C possibly damaging Het
Nckap5 A T 1: 125,953,650 (GRCm39) C967* probably null Het
Nek10 T C 14: 14,999,078 (GRCm38) probably benign Het
Oas1h A T 5: 121,009,951 (GRCm39) D342V possibly damaging Het
Or10j2 A G 1: 173,098,336 (GRCm39) N198S probably benign Het
Or2ak7 T A 11: 58,575,014 (GRCm39) L105Q probably benign Het
Or2n1 A T 17: 38,486,091 (GRCm39) M39L probably benign Het
Or4m1 A G 14: 50,557,941 (GRCm39) V117A probably benign Het
Or8b1b T C 9: 38,375,439 (GRCm39) M34T probably benign Het
Prex1 A T 2: 166,429,001 (GRCm39) V694E probably damaging Het
Rad50 G A 11: 53,570,312 (GRCm39) A810V probably damaging Het
Rcor1 T C 12: 111,076,271 (GRCm39) S410P probably damaging Het
Rps14 A T 18: 60,909,551 (GRCm39) N26I probably benign Het
Slc38a1 T C 15: 96,483,431 (GRCm39) D299G probably benign Het
Slc5a1 T A 5: 33,312,052 (GRCm39) N481K possibly damaging Het
Slco3a1 A T 7: 74,009,683 (GRCm39) probably null Het
Spart T C 3: 55,024,992 (GRCm39) S196P probably damaging Het
Speg A G 1: 75,394,307 (GRCm39) T1701A probably benign Het
Sugt1 A G 14: 79,862,365 (GRCm39) N271S probably benign Het
Tbx15 A T 3: 99,259,228 (GRCm39) L366F possibly damaging Het
Tnc G A 4: 63,925,921 (GRCm39) T953I possibly damaging Het
Uqcc1 A G 2: 155,753,738 (GRCm39) S46P probably damaging Het
Vmn2r18 T C 5: 151,499,099 (GRCm39) probably null Het
Vmn2r7 T A 3: 64,614,500 (GRCm39) Y438F probably benign Het
Vmn2r72 T A 7: 85,398,419 (GRCm39) K520N probably benign Het
Vps52 T C 17: 34,176,868 (GRCm39) L74P probably damaging Het
Xpo5 G T 17: 46,538,814 (GRCm39) M673I probably benign Het
Zscan18 A G 7: 12,508,129 (GRCm39) V457A probably damaging Het
Other mutations in Foxn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Foxn1 APN 11 78,262,109 (GRCm39) missense probably benign 0.24
IGL01391:Foxn1 APN 11 78,252,320 (GRCm39) missense probably damaging 1.00
IGL01737:Foxn1 APN 11 78,251,732 (GRCm39) missense possibly damaging 0.81
IGL02669:Foxn1 APN 11 78,261,986 (GRCm39) missense probably damaging 0.99
IGL03276:Foxn1 APN 11 78,261,950 (GRCm39) missense probably benign 0.16
Nudnik UTSW 11 78,252,438 (GRCm39) missense possibly damaging 0.52
R0200:Foxn1 UTSW 11 78,251,866 (GRCm39) missense probably damaging 1.00
R0639:Foxn1 UTSW 11 78,261,970 (GRCm39) missense possibly damaging 0.67
R0739:Foxn1 UTSW 11 78,249,825 (GRCm39) missense probably benign 0.01
R1112:Foxn1 UTSW 11 78,261,856 (GRCm39) missense probably benign 0.29
R1167:Foxn1 UTSW 11 78,249,892 (GRCm39) missense probably damaging 0.99
R1251:Foxn1 UTSW 11 78,249,611 (GRCm39) missense probably damaging 0.99
R1474:Foxn1 UTSW 11 78,251,933 (GRCm39) missense probably benign
R1616:Foxn1 UTSW 11 78,249,692 (GRCm39) missense probably benign 0.00
R1795:Foxn1 UTSW 11 78,262,051 (GRCm39) missense probably benign 0.01
R1905:Foxn1 UTSW 11 78,262,636 (GRCm39) splice site probably null
R1906:Foxn1 UTSW 11 78,262,636 (GRCm39) splice site probably null
R1975:Foxn1 UTSW 11 78,256,763 (GRCm39) splice site probably benign
R1976:Foxn1 UTSW 11 78,256,763 (GRCm39) splice site probably benign
R2206:Foxn1 UTSW 11 78,249,630 (GRCm39) missense probably benign 0.02
R2207:Foxn1 UTSW 11 78,249,630 (GRCm39) missense probably benign 0.02
R2988:Foxn1 UTSW 11 78,249,603 (GRCm39) missense possibly damaging 0.74
R2989:Foxn1 UTSW 11 78,249,603 (GRCm39) missense possibly damaging 0.74
R5015:Foxn1 UTSW 11 78,261,989 (GRCm39) missense probably damaging 1.00
R5140:Foxn1 UTSW 11 78,252,459 (GRCm39) missense probably benign 0.18
R5533:Foxn1 UTSW 11 78,256,792 (GRCm39) missense probably damaging 1.00
R6712:Foxn1 UTSW 11 78,252,085 (GRCm39) missense probably damaging 1.00
R6852:Foxn1 UTSW 11 78,251,786 (GRCm39) missense probably benign 0.00
R7176:Foxn1 UTSW 11 78,251,693 (GRCm39) missense possibly damaging 0.94
R7331:Foxn1 UTSW 11 78,249,615 (GRCm39) missense probably damaging 1.00
R7515:Foxn1 UTSW 11 78,261,970 (GRCm39) missense possibly damaging 0.67
R7562:Foxn1 UTSW 11 78,261,958 (GRCm39) missense probably damaging 1.00
R7657:Foxn1 UTSW 11 78,256,790 (GRCm39) missense probably benign 0.29
R8838:Foxn1 UTSW 11 78,252,438 (GRCm39) missense possibly damaging 0.52
R9255:Foxn1 UTSW 11 78,252,399 (GRCm39) nonsense probably null
R9512:Foxn1 UTSW 11 78,262,035 (GRCm39) missense
X0067:Foxn1 UTSW 11 78,252,368 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-13