Incidental Mutation 'R5533:Foxn1'
ID 433768
Institutional Source Beutler Lab
Gene Symbol Foxn1
Ensembl Gene ENSMUSG00000002057
Gene Name forkhead box N1
Synonyms whn, D11Bhm185e, Hfh11
MMRRC Submission 043091-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5533 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 78248403-78277384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78256792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 301 (M301T)
Ref Sequence ENSEMBL: ENSMUSP00000103929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108294]
AlphaFold Q61575
Predicted Effect probably damaging
Transcript: ENSMUST00000108294
AA Change: M301T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103929
Gene: ENSMUSG00000002057
AA Change: M301T

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
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.1%
  • 10x: 94.5%
  • 20x: 88.2%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 A G 10: 126,918,911 (GRCm39) E429G probably damaging Het
Akap12 T A 10: 4,307,405 (GRCm39) V1405D probably damaging Het
Akap7 C T 10: 25,159,880 (GRCm39) D107N possibly damaging Het
Arfgef1 A G 1: 10,269,952 (GRCm39) probably null Het
Cacna1s T A 1: 136,026,113 (GRCm39) probably null Het
Ctsd T C 7: 141,931,070 (GRCm39) Q274R probably benign Het
Dysf G A 6: 84,163,453 (GRCm39) R1575Q probably damaging Het
Erich6b A T 14: 75,896,274 (GRCm39) L53F possibly damaging Het
Exoc6 A C 19: 37,582,218 (GRCm39) probably null Het
Fbxw19 A T 9: 109,315,133 (GRCm39) V143E probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fndc1 A G 17: 7,991,608 (GRCm39) F696S unknown Het
Foxa3 G T 7: 18,748,940 (GRCm39) Y102* probably null Het
Foxp2 C T 6: 15,197,119 (GRCm39) Q54* probably null Het
Glra1 T C 11: 55,423,208 (GRCm39) E117G possibly damaging Het
Glt1d1 A T 5: 127,768,095 (GRCm39) D234V probably damaging Het
Golm2 AGATGGTGATGGTG AGATGGTG 2: 121,756,178 (GRCm39) probably benign Het
Gulp1 T C 1: 44,812,441 (GRCm39) I137T probably damaging Het
Itga8 A G 2: 12,165,161 (GRCm39) V816A possibly damaging Het
Kdm4c G A 4: 74,233,886 (GRCm39) probably benign Het
Krtap19-2 A G 16: 88,670,996 (GRCm39) probably benign Het
Lcorl T C 5: 45,891,219 (GRCm39) N378S possibly damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mocos T C 18: 24,807,357 (GRCm39) L363P probably damaging Het
Mycbp2 G T 14: 103,520,081 (GRCm39) Y745* probably null Het
Nav3 A C 10: 109,719,539 (GRCm39) N141K possibly damaging Het
Ncor1 T C 11: 62,233,837 (GRCm39) N779S probably benign Het
Nebl G T 2: 17,398,079 (GRCm39) Y414* probably null Het
Nf1 T G 11: 79,336,615 (GRCm39) C1065G probably damaging Het
Nfib A G 4: 82,278,004 (GRCm39) V216A probably damaging Het
Nub1 A T 5: 24,907,379 (GRCm39) N354I possibly damaging Het
Nyap1 C T 5: 137,733,726 (GRCm39) V436I probably benign Het
Or5m11b A G 2: 85,805,797 (GRCm39) D70G possibly damaging Het
Or5p73 T C 7: 108,065,469 (GRCm39) F313L probably benign Het
Pde2a T A 7: 101,155,187 (GRCm39) M570K probably damaging Het
Pfas T C 11: 68,882,296 (GRCm39) S856G probably benign Het
Pkd1l2 T C 8: 117,794,855 (GRCm39) E368G probably benign Het
Ptf1a G A 2: 19,451,969 (GRCm39) V323M probably damaging Het
Ptprh T C 7: 4,552,504 (GRCm39) Y920C probably damaging Het
Sergef T A 7: 46,264,200 (GRCm39) D229V possibly damaging Het
Slc1a4 T C 11: 20,254,417 (GRCm39) K483R probably benign Het
Slc26a6 G A 9: 108,735,155 (GRCm39) R351H probably damaging Het
Slc6a19 G A 13: 73,833,948 (GRCm39) T370I possibly damaging Het
Smpd5 T C 15: 76,178,757 (GRCm39) S42P possibly damaging Het
Snx13 G A 12: 35,173,025 (GRCm39) probably null Het
Sox10 G A 15: 79,040,502 (GRCm39) S185L probably benign Het
Spata31e5 T A 1: 28,817,163 (GRCm39) I290F probably damaging Het
Srpk1 T C 17: 28,821,733 (GRCm39) Y227C probably damaging Het
Stambpl1 T A 19: 34,211,316 (GRCm39) probably null Het
Stk36 A G 1: 74,665,750 (GRCm39) R698G possibly damaging Het
Tas2r122 T A 6: 132,688,393 (GRCm39) T167S probably damaging Het
Tlr12 A G 4: 128,509,656 (GRCm39) S865P probably damaging Het
Trp53bp1 A G 2: 121,038,227 (GRCm39) L1537P probably damaging Het
Vstm2a C A 11: 16,213,125 (GRCm39) T170K possibly damaging Het
Xpo7 A T 14: 70,931,407 (GRCm39) F304I probably damaging Het
Zfp286 T C 11: 62,671,796 (GRCm39) probably benign Het
Zfp985 A T 4: 147,667,440 (GRCm39) K103* probably null 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
R1506:Foxn1 UTSW 11 78,256,761 (GRCm39) splice site 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
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 2016-10-06