Mutagenetix > Incidental Mutation

Incidental Mutation 'R1975:Foxn1'

221613

Institutional Source

Beutler Lab

Gene Symbol

Foxn1

Ensembl Gene

ENSMUSG00000002057

Gene Name

forkhead box N1

Synonyms

whn, D11Bhm185e, Hfh11

MMRRC Submission

039988-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78248403-78277384 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 78256763 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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (71/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,742,322 (GRCm39)	T429A	probably benign	Het
Afmid	A	C	11: 117,727,300 (GRCm39)	I275L	probably benign	Het
Aimp1	A	C	3: 132,382,860 (GRCm39)	D5E	possibly damaging	Het
Aldob	G	A	4: 49,538,171 (GRCm39)	A319V	probably benign	Het
Ankar	C	T	1: 72,697,600 (GRCm39)	V1068I	possibly damaging	Het
Ccr2	C	T	9: 123,906,830 (GRCm39)	S370L	probably benign	Het
Chrnb4	A	G	9: 54,942,102 (GRCm39)	Y391H	probably damaging	Het
Clip1	A	G	5: 123,761,281 (GRCm39)	M873T	possibly damaging	Het
Cspg4	G	C	9: 56,797,762 (GRCm39)	G1409R	probably damaging	Het
Dnah17	A	T	11: 117,987,362 (GRCm39)	L1320*	probably null	Het
Dock4	T	C	12: 40,829,641 (GRCm39)		probably benign	Het
Eml4	T	C	17: 83,717,622 (GRCm39)	S65P	probably benign	Het
Fblim1	A	T	4: 141,312,175 (GRCm39)	D183E	probably damaging	Het
Gm973	A	T	1: 59,601,930 (GRCm39)	T515S	possibly damaging	Het
Hdac7	G	A	15: 97,704,386 (GRCm39)	Q495*	probably null	Het
Hipk3	T	C	2: 104,301,518 (GRCm39)	I225V	probably benign	Het
Hrc	A	T	7: 44,985,638 (GRCm39)	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,375,888 (GRCm39)	I21T	probably benign	Het
Il15ra	A	G	2: 11,728,334 (GRCm39)	T133A	possibly damaging	Het
Krt78	T	C	15: 101,854,603 (GRCm39)	*1069W	probably null	Het
Lama3	T	A	18: 12,586,920 (GRCm39)	M761K	probably damaging	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Macf1	T	C	4: 123,383,005 (GRCm39)	T1320A	probably damaging	Het
Mark3	A	T	12: 111,581,875 (GRCm39)	I115L	probably damaging	Het
Mcph1	T	G	8: 18,739,081 (GRCm39)		probably benign	Het
Med23	T	A	10: 24,786,664 (GRCm39)	N923K	probably benign	Het
Msrb2	T	G	2: 19,398,032 (GRCm39)	Y97D	probably damaging	Het
Muc6	C	T	7: 141,234,368 (GRCm39)	G708S	probably damaging	Het
Mylk	T	C	16: 34,700,673 (GRCm39)		probably null	Het
Nfrkb	T	A	9: 31,325,980 (GRCm39)	V1141E	possibly damaging	Het
Obscn	T	C	11: 58,958,555 (GRCm39)	E3675G	probably damaging	Het
Or11h7	T	A	14: 50,890,821 (GRCm39)	N42K	probably damaging	Het
Or2l5	G	A	16: 19,333,586 (GRCm39)	P267S	probably damaging	Het
Or2t6	A	T	14: 14,175,446 (GRCm38)	V212E	probably damaging	Het
Or51aa2	A	T	7: 103,188,201 (GRCm39)	F80Y	probably damaging	Het
Or52z14	A	G	7: 103,253,219 (GRCm39)		probably null	Het
Or5ac21	T	C	16: 59,124,091 (GRCm39)	S193P	probably damaging	Het
Or8k21	C	G	2: 86,145,498 (GRCm39)	G44A	probably damaging	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Pdgfc	C	T	3: 81,116,552 (GRCm39)	T302I	probably damaging	Het
Pkhd1l1	G	T	15: 44,393,109 (GRCm39)	V1815F	probably damaging	Het
Pnpt1	A	G	11: 29,091,256 (GRCm39)	I337V	probably benign	Het
Psma8	T	G	18: 14,864,033 (GRCm39)		probably null	Het
Rbl2	T	C	8: 91,812,090 (GRCm39)	S220P	probably benign	Het
Rere	T	A	4: 150,700,190 (GRCm39)	D1091E	probably damaging	Het
Rpa1	A	G	11: 75,197,002 (GRCm39)	C540R	probably damaging	Het
Sema3d	T	A	5: 12,613,285 (GRCm39)	V454E	probably damaging	Het
Sema3d	T	C	5: 12,634,965 (GRCm39)	V677A	probably benign	Het
Sgk2	A	G	2: 162,846,080 (GRCm39)	N207S	probably benign	Het
Sirpb1a	T	C	3: 15,444,141 (GRCm39)	I370V	probably benign	Het
Slc22a19	A	G	19: 7,661,224 (GRCm39)		probably benign	Het
Slc26a1	T	A	5: 108,820,338 (GRCm39)	D287V	probably damaging	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Slco2a1	T	A	9: 102,956,653 (GRCm39)	Y488*	probably null	Het
Stab2	A	C	10: 86,732,360 (GRCm39)		probably null	Het
Strn	T	C	17: 78,999,928 (GRCm39)		probably null	Het
Tbxas1	A	G	6: 38,925,575 (GRCm39)		probably benign	Het
Thumpd3	A	G	6: 113,032,838 (GRCm39)	N192S	possibly damaging	Het
Tns3	T	A	11: 8,385,738 (GRCm39)	I1386F	probably benign	Het
Treml4	T	A	17: 48,579,821 (GRCm39)	V219E	probably damaging	Het
Triobp	T	C	15: 78,850,908 (GRCm39)	V354A	probably benign	Het
Tspan8	A	G	10: 115,680,035 (GRCm39)	I217V	probably benign	Het
Tub	G	A	7: 108,627,042 (GRCm39)	G314R	possibly damaging	Het
Ube3b	C	T	5: 114,537,926 (GRCm39)	T339M	possibly damaging	Het
Vmn2r43	A	G	7: 8,258,550 (GRCm39)	I221T	possibly damaging	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Zfp110	C	T	7: 12,582,429 (GRCm39)	T359I	probably benign	Het
Zfp322a	A	T	13: 23,541,074 (GRCm39)	C223S	probably damaging	Het
Zfp512b	G	A	2: 181,228,878 (GRCm39)	R696*	probably null	Het

Other mutations in Foxn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
(F):5'- CCCCTTTTGCTATGGAGGATG -3'
(R):5'- TGCTCGTAGATTTCAGTCTCAGC -3'

Sequencing Primer
(F):5'- TGCTATGGAGGATGGAGCC -3'
(R):5'- GTAGATTTCAGTCTCAGCCTCACAG -3'

Posted On

2014-08-25