Incidental Mutation 'R5015:Foxn1'
ID 385522
Institutional Source Beutler Lab
Gene Symbol Foxn1
Ensembl Gene ENSMUSG00000002057
Gene Name forkhead box N1
Synonyms whn, D11Bhm185e, Hfh11
MMRRC Submission 042606-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5015 (G1)
Quality Score 215
Status Not validated
Chromosome 11
Chromosomal Location 78248403-78277384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78261989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 127 (K127E)
Ref Sequence ENSEMBL: ENSMUSP00000103929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108294]
AlphaFold Q61575
Predicted Effect probably damaging
Transcript: ENSMUST00000108294
AA Change: K127E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103929
Gene: ENSMUSG00000002057
AA Change: K127E

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: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,671 (GRCm39) F312L probably benign Het
Adprm A G 11: 66,932,856 (GRCm39) F18L possibly damaging Het
Ampd1 T G 3: 103,006,981 (GRCm39) N735K possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp1a4 T C 1: 172,081,649 (GRCm39) M168V probably damaging Het
Bcl6 G A 16: 23,793,600 (GRCm39) H116Y probably damaging Het
Bmpr2 T A 1: 59,890,383 (GRCm39) N338K probably damaging Het
Bms1 A T 6: 118,381,224 (GRCm39) Y697* probably null Het
Ccdc33 A C 9: 58,025,918 (GRCm39) F37C probably damaging Het
Ccdc60 T A 5: 116,426,507 (GRCm39) Q30L probably benign Het
Cndp1 C A 18: 84,650,036 (GRCm39) R219L probably damaging Het
Cstdc4 T C 16: 36,006,837 (GRCm39) probably null Het
Daam2 C A 17: 49,783,550 (GRCm39) D627Y probably damaging Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dnah2 T G 11: 69,388,708 (GRCm39) T892P possibly damaging Het
Dqx1 A G 6: 83,043,092 (GRCm39) T610A probably benign Het
Dspp A T 5: 104,324,926 (GRCm39) I430L possibly damaging Het
Dytn T A 1: 63,672,854 (GRCm39) K516N probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fmnl2 T A 2: 52,993,773 (GRCm39) N389K possibly damaging Het
Fn1 G A 1: 71,665,336 (GRCm39) T927I probably damaging Het
Fpr-rs6 A G 17: 20,402,608 (GRCm39) F251S probably damaging Het
Frrs1 A G 3: 116,672,088 (GRCm39) D62G probably damaging Het
Fut10 T A 8: 31,726,148 (GRCm39) V301D probably damaging Het
Gk5 A G 9: 96,059,470 (GRCm39) probably null Het
Glipr1l1 T A 10: 111,914,279 (GRCm39) N213K probably benign Het
Gm1110 A G 9: 26,793,162 (GRCm39) F538S probably benign Het
Gm7347 T A 5: 26,262,366 (GRCm39) T52S probably benign Het
Gsap T C 5: 21,427,406 (GRCm39) I178T probably damaging Het
H1f9 C A 11: 94,858,928 (GRCm39) N74K probably damaging Het
Hcn1 A T 13: 117,739,556 (GRCm39) Q106L unknown Het
Isg20l2 G T 3: 87,839,288 (GRCm39) L166F possibly damaging Het
Kcnq3 T A 15: 65,876,612 (GRCm39) E510D probably damaging Het
Kif26b G T 1: 178,755,895 (GRCm39) R2003L probably damaging Het
Kiss1r T C 10: 79,754,641 (GRCm39) V45A probably damaging Het
Krt14 G A 11: 100,098,032 (GRCm39) R84* probably null Het
Mbd5 T C 2: 49,148,208 (GRCm39) M806T possibly damaging Het
Mdga1 A T 17: 30,058,847 (GRCm39) I13N possibly damaging Het
Mfsd4b5 T C 10: 39,850,758 (GRCm39) K73E probably benign Het
Mterf2 C T 10: 84,955,596 (GRCm39) G343R probably benign Het
Mto1 T A 9: 78,368,903 (GRCm39) F522I probably benign Het
Myo18b T C 5: 112,937,923 (GRCm39) E1734G probably damaging Het
Myoz1 T C 14: 20,703,787 (GRCm39) T53A probably benign Het
Naxd T C 8: 11,563,032 (GRCm39) L324P probably damaging Het
Nos1 T A 5: 118,005,334 (GRCm39) V18D probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Or10v5 T C 19: 11,805,482 (GRCm39) R303G probably benign Het
Or10z1 A G 1: 174,078,448 (GRCm39) L15S possibly damaging Het
Or1e29 C G 11: 73,668,007 (GRCm39) V49L probably benign Het
Or2j6 T C 7: 139,980,083 (GRCm39) D292G probably damaging Het
Or52b1 A G 7: 104,978,811 (GRCm39) V196A possibly damaging Het
Otof T A 5: 30,540,238 (GRCm39) Y981F probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pex1 A G 5: 3,670,597 (GRCm39) K7E probably damaging Het
Pi4ka A G 16: 17,120,946 (GRCm39) S73P possibly damaging Het
Plxnb1 T A 9: 108,929,498 (GRCm39) I118N possibly damaging Het
Prcc T C 3: 87,779,560 (GRCm39) D158G probably damaging Het
Ptpn7 C A 1: 135,066,877 (GRCm39) R245S possibly damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwp2 A G 10: 78,018,527 (GRCm39) C86R probably benign Het
Rfng T G 11: 120,673,876 (GRCm39) D178A probably damaging Het
Rhpn1 T C 15: 75,580,090 (GRCm39) I51T probably damaging Het
Rnasel G T 1: 153,629,843 (GRCm39) E120* probably null Het
Sall2 T G 14: 52,553,112 (GRCm39) S26R possibly damaging Het
Scn10a A G 9: 119,451,987 (GRCm39) V1312A possibly damaging Het
Sdk2 C A 11: 113,684,587 (GRCm39) R1958L probably damaging Het
Septin4 C T 11: 87,458,043 (GRCm39) S139F possibly damaging Het
Slc52a2 T A 15: 76,424,751 (GRCm39) C330S probably damaging Het
Smarca2 T A 19: 26,668,788 (GRCm39) I987N possibly damaging Het
Srrt A T 5: 137,294,271 (GRCm39) Y486N probably damaging Het
Stat5b A T 11: 100,695,831 (GRCm39) N50K possibly damaging Het
Strip2 T A 6: 29,931,265 (GRCm39) D405E probably benign Het
Tcstv6 T A 13: 120,298,474 (GRCm39) probably null Het
Tnc A T 4: 63,924,739 (GRCm39) D986E probably damaging Het
Tph2 T C 10: 114,915,621 (GRCm39) N473S probably benign Het
Tpp1 C T 7: 105,401,232 (GRCm39) probably benign Het
Trpm3 T C 19: 22,689,076 (GRCm39) Y2H probably damaging Het
Ttc21a A T 9: 119,795,195 (GRCm39) E1072V probably damaging Het
Zfat T C 15: 68,050,762 (GRCm39) D753G probably damaging Het
Zmym2 T A 14: 57,159,051 (GRCm39) S609T 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
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
(F):5'- GTTTATTGCACCAAGCCTCTGC -3'
(R):5'- CTAACTTCAGCTGCTCGTCG -3'

Sequencing Primer
(F):5'- TCTGCTGGGAAGCTAGGCAG -3'
(R):5'- CTCGTCGTTTGTGCCTGACG -3'
Posted On 2016-05-10