Incidental Mutation 'R6712:Foxn1'
ID 529175
Institutional Source Beutler Lab
Gene Symbol Foxn1
Ensembl Gene ENSMUSG00000002057
Gene Name forkhead box N1
Synonyms whn, D11Bhm185e, Hfh11
MMRRC Submission 044830-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6712 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 78248403-78277384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 78252085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 382 (D382A)
Ref Sequence ENSEMBL: ENSMUSP00000103929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108294]
AlphaFold Q61575
Predicted Effect probably damaging
Transcript: ENSMUST00000108294
AA Change: D382A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103929
Gene: ENSMUSG00000002057
AA Change: D382A

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l G A 17: 32,551,862 (GRCm39) T443M probably damaging Het
Ankmy1 A T 1: 92,798,644 (GRCm39) V950D probably damaging Het
Cep350 T C 1: 155,733,852 (GRCm39) K3014E possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dmxl2 A G 9: 54,318,908 (GRCm39) Y1586H probably damaging Het
Dnah11 A T 12: 118,014,457 (GRCm39) I2010N probably damaging Het
Dock10 T A 1: 80,514,583 (GRCm39) M1446L probably benign Het
Fcmr T C 1: 130,805,588 (GRCm39) L274P probably damaging Het
Gpr179 T C 11: 97,226,993 (GRCm39) R1721G possibly damaging Het
H2aj A G 6: 136,785,524 (GRCm39) I63V probably benign Het
Mfsd9 T C 1: 40,825,601 (GRCm39) probably null Het
Mis18a T C 16: 90,524,045 (GRCm39) E39G possibly damaging Het
Mmp27 A T 9: 7,572,177 (GRCm39) T126S probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Myo5a A C 9: 75,120,182 (GRCm39) D1635A probably benign Het
Ngdn T C 14: 55,253,645 (GRCm39) V11A probably benign Het
Nlrc4 A T 17: 74,753,831 (GRCm39) M184K probably damaging Het
Or10h28 T G 17: 33,488,242 (GRCm39) H181Q possibly damaging Het
Or52e15 A T 7: 104,645,625 (GRCm39) I162K possibly damaging Het
Peli2 C A 14: 48,488,051 (GRCm39) Q81K probably benign Het
Pfdn2 T A 1: 171,185,419 (GRCm39) I97K probably damaging Het
Pknox1 C A 17: 31,814,290 (GRCm39) T205K probably benign Het
Polh T C 17: 46,501,655 (GRCm39) S179G probably benign Het
Ppp4r4 G A 12: 103,562,702 (GRCm39) R557Q probably damaging Het
Sipa1 A T 19: 5,710,847 (GRCm39) D54E possibly damaging Het
Tmc8 C A 11: 117,675,639 (GRCm39) N185K probably benign Het
Tns1 C A 1: 74,118,460 (GRCm39) E57* probably null Het
Tyro3 G A 2: 119,635,335 (GRCm39) A209T probably null Het
Ube2f T A 1: 91,204,171 (GRCm39) C116S possibly damaging Het
Vmn1r231 T C 17: 21,109,992 (GRCm39) T308A possibly damaging Het
Wwc2 T A 8: 48,353,838 (GRCm39) M99L probably benign Het
Zfp516 C T 18: 82,975,433 (GRCm39) R544C probably damaging Het
Zfp764l1 A T 7: 126,991,482 (GRCm39) H168Q 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
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
R5533:Foxn1 UTSW 11 78,256,792 (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
(F):5'- AGCTCAAGATGCCCATCTGG -3'
(R):5'- AAACCAGGTGAGGCTGTCAG -3'

Sequencing Primer
(F):5'- CCATCTGGCTGTGGGAACAATG -3'
(R):5'- CTGTCAGGCCTGTGTGAGAAAG -3'
Posted On 2018-07-24