Mutagenetix > Incidental Mutation

Incidental Mutation 'R1906:Foxn1'

214393

Institutional Source

Beutler Lab

Gene Symbol

Foxn1

Ensembl Gene

ENSMUSG00000002057

Gene Name

forkhead box N1

Synonyms

whn, D11Bhm185e, Hfh11

MMRRC Submission

039925-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1906 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78248403-78277384 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 78262636 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 null
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

0.9755

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,072,984 (GRCm39)	T923I	probably benign	Het
Abhd13	T	A	8: 10,038,170 (GRCm39)	C256S	probably benign	Het
Adamts5	C	T	16: 85,665,573 (GRCm39)	W576*	probably null	Het
Adnp	A	T	2: 168,024,287 (GRCm39)	S1003T	probably benign	Het
AI987944	C	T	7: 41,024,550 (GRCm39)	R146Q	probably benign	Het
Apol6	G	T	15: 76,935,060 (GRCm39)	V110F	probably damaging	Het
Arhgap27	A	G	11: 103,223,751 (GRCm39)	F651L	probably damaging	Het
Atm	T	C	9: 53,417,868 (GRCm39)	D813G	probably damaging	Het
Casd1	T	A	6: 4,641,979 (GRCm39)	I752N	probably damaging	Het
Cdr2	A	G	7: 120,581,224 (GRCm39)	Y18H	probably damaging	Het
Cntn4	T	C	6: 106,330,607 (GRCm39)	F75S	probably benign	Het
Col20a1	G	A	2: 180,640,490 (GRCm39)	R549H	probably benign	Het
Col28a1	A	T	6: 7,999,644 (GRCm39)	N1024K	probably benign	Het
Dnah10	T	A	5: 124,878,048 (GRCm39)	V2654D	probably damaging	Het
Dnph1	A	T	17: 46,807,787 (GRCm39)	I18F	probably damaging	Het
Dsn1	G	A	2: 156,838,163 (GRCm39)	R334W	probably damaging	Het
Egf	T	A	3: 129,518,873 (GRCm39)	K325N	probably benign	Het
Eps15	T	G	4: 109,181,398 (GRCm39)	S311A	possibly damaging	Het
Fmo3	G	T	1: 162,794,475 (GRCm39)	D198E	probably damaging	Het
Folh1	C	G	7: 86,391,374 (GRCm39)		probably null	Het
Gm10604	T	G	4: 11,979,989 (GRCm39)	D105A	unknown	Het
Gpx8	A	G	13: 113,182,110 (GRCm39)	C108R	probably damaging	Het
Herc2	A	T	7: 55,764,612 (GRCm39)	I1013L	probably benign	Het
Hyal4	T	G	6: 24,756,110 (GRCm39)	N109K	probably damaging	Het
Il22ra1	T	G	4: 135,478,544 (GRCm39)	C538W	probably damaging	Het
Ints13	A	T	6: 146,453,868 (GRCm39)		probably null	Het
Krt75	T	A	15: 101,481,801 (GRCm39)	T156S	possibly damaging	Het
Lama2	A	C	10: 26,932,523 (GRCm39)		probably null	Het
Lifr	G	T	15: 7,217,612 (GRCm39)	V847L	probably damaging	Het
Lmf1	T	A	17: 25,831,309 (GRCm39)	I185N	probably damaging	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Ms4a15	T	C	19: 10,960,644 (GRCm39)	I94V	probably benign	Het
Mycbpap	A	T	11: 94,396,447 (GRCm39)	M131K	probably benign	Het
Ncor1	A	T	11: 62,240,211 (GRCm39)	M920K	possibly damaging	Het
Neb	A	G	2: 52,198,538 (GRCm39)	Y437H	probably damaging	Het
Npy5r	A	T	8: 67,134,125 (GRCm39)	W223R	probably damaging	Het
Or10ak11	G	A	4: 118,687,467 (GRCm39)	H56Y	probably damaging	Het
Or10x4	C	A	1: 174,218,730 (GRCm39)	L32M	probably damaging	Het
Or4c114	A	G	2: 88,905,414 (GRCm39)	V7A	possibly damaging	Het
Or6c6c	T	G	10: 129,541,365 (GRCm39)	V206G	probably benign	Het
Polg	T	C	7: 79,110,070 (GRCm39)	K353E	probably damaging	Het
Proz	C	G	8: 13,123,686 (GRCm39)		probably null	Het
Pus7	T	C	5: 23,983,209 (GRCm39)	D86G	probably damaging	Het
Rhpn1	T	C	15: 75,583,673 (GRCm39)	V386A	probably benign	Het
Rigi	T	C	4: 40,206,054 (GRCm39)	K846R	probably benign	Het
Sptbn4	A	G	7: 27,090,856 (GRCm39)		probably null	Het
Srp68	A	T	11: 116,141,587 (GRCm39)	I424N	probably damaging	Het
Stard9	A	G	2: 120,526,908 (GRCm39)	E1055G	probably benign	Het
Taf4b	A	G	18: 14,955,159 (GRCm39)	I571V	probably benign	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Thap12	T	C	7: 98,365,947 (GRCm39)	L705P	probably damaging	Het
Tom1	T	C	8: 75,778,218 (GRCm39)	V100A	probably damaging	Het
Tox3	A	G	8: 90,975,057 (GRCm39)		probably benign	Het
Vmn2r82	A	G	10: 79,232,344 (GRCm39)	N781S	probably damaging	Het
Vwa5b1	A	T	4: 138,327,547 (GRCm39)	V343E	possibly damaging	Het
Zbbx	A	G	3: 74,979,047 (GRCm39)	Y467H	probably damaging	Het
Zbtb46	G	A	2: 181,065,632 (GRCm39)	R173W	probably damaging	Het
Zfp112	A	G	7: 23,821,720 (GRCm39)	D20G	probably benign	Het
Zfp777	A	C	6: 48,018,995 (GRCm39)	M313R	probably damaging	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
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
(F):5'- TTCTAAACCTGGGTCCCCTG -3'
(R):5'- GGTCCTCATTCTCATTGTAGCTGG -3'

Sequencing Primer
(F):5'- GTTCCATATCTGGGGAAACACC -3'
(R):5'- GCTTTCTTCGAGGCCAGGAC -3'

Posted On

2014-07-14