Mutagenetix > Incidental Mutation

Incidental Mutation 'R7562:Foxn1'

585205

Institutional Source

Beutler Lab

Gene Symbol

Foxn1

Ensembl Gene

ENSMUSG00000002057

Gene Name

forkhead box N1

Synonyms

whn, D11Bhm185e, Hfh11

MMRRC Submission

045627-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7562 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78248403-78277384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78261958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 137 (E137V)

Ref Sequence

ENSEMBL: ENSMUSP00000103929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108294]

AlphaFold

Q61575

Predicted Effect

probably damaging
Transcript: ENSMUST00000108294
AA Change: E137V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103929
Gene: ENSMUSG00000002057
AA Change: E137V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 36,030,563 (GRCm39)	T544M	probably benign	Het
Adamts12	A	G	15: 11,270,697 (GRCm39)	R651G	probably benign	Het
Adck1	G	A	12: 88,335,203 (GRCm39)	D30N	possibly damaging	Het
Alcam	T	A	16: 52,089,186 (GRCm39)	I505F	probably benign	Het
Alms1	T	C	6: 85,597,394 (GRCm39)	L740P	probably damaging	Het
Ankib1	C	T	5: 3,797,021 (GRCm39)	D264N	probably null	Het
Arid2	T	G	15: 96,299,849 (GRCm39)	H1787Q	probably damaging	Het
Asf1a	C	T	10: 53,482,283 (GRCm39)	R102*	probably null	Het
Atp2b1	C	A	10: 98,858,667 (GRCm39)		probably null	Het
Bdp1	T	C	13: 100,162,049 (GRCm39)	D2291G	probably benign	Het
Bnip5	T	C	17: 29,128,778 (GRCm39)	D45G	probably benign	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Catsperg2	A	G	7: 29,397,144 (GRCm39)	F1120L	probably benign	Het
Ccdc80	C	T	16: 44,943,266 (GRCm39)	A792V	probably damaging	Het
Cdcp3	T	A	7: 130,904,426 (GRCm39)	D2381E	unknown	Het
Cenpe	C	T	3: 134,954,395 (GRCm39)	R1751W	probably damaging	Het
Cenpm	T	C	15: 82,125,562 (GRCm39)	I66V	probably benign	Het
Clcn4	A	G	7: 7,298,081 (GRCm39)	W103R	possibly damaging	Het
Cntn2	T	C	1: 132,454,055 (GRCm39)	D317G	possibly damaging	Het
Cwf19l1	G	A	19: 44,117,680 (GRCm39)	T154M	probably damaging	Het
Cyp2a4	T	A	7: 26,012,321 (GRCm39)	M368K	possibly damaging	Het
Dars1	A	G	1: 128,294,763 (GRCm39)	S413P	possibly damaging	Het
Dscc1	A	G	15: 54,947,581 (GRCm39)	Y200H	probably benign	Het
Dsn1	A	T	2: 156,842,792 (GRCm39)	D183E	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Fancc	A	T	13: 63,550,867 (GRCm39)		probably null	Het
Fbxo34	T	A	14: 47,767,135 (GRCm39)	M216K	probably benign	Het
Fer1l6	T	G	15: 58,432,331 (GRCm39)	S293A	probably benign	Het
Fshr	A	C	17: 89,295,925 (GRCm39)	F261V	probably damaging	Het
Gabrb3	C	T	7: 57,461,926 (GRCm39)	R153*	probably null	Het
Garin1b	T	C	6: 29,323,833 (GRCm39)	V186A	probably damaging	Het
Gps2	C	A	11: 69,807,308 (GRCm39)	N321K	probably benign	Het
Hdgf	T	C	3: 87,813,993 (GRCm39)	M20T	possibly damaging	Het
Igdcc4	G	T	9: 65,031,306 (GRCm39)	A415S	probably damaging	Het
Kif26b	A	G	1: 178,742,541 (GRCm39)	E879G	probably damaging	Het
Krt13	T	C	11: 100,010,162 (GRCm39)	Y273C	probably damaging	Het
Mab21l4	C	A	1: 93,087,689 (GRCm39)	V55F	probably damaging	Het
Mag	A	G	7: 30,608,559 (GRCm39)	V185A	possibly damaging	Het
Map3k21	C	T	8: 126,665,539 (GRCm39)	T576M	probably damaging	Het
Mtcl2	A	C	2: 156,895,509 (GRCm39)	L332R	probably damaging	Het
Mtrr	A	G	13: 68,714,336 (GRCm39)	F468L	probably damaging	Het
Myb	C	T	10: 21,017,653 (GRCm39)		probably null	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nckap5l	A	T	15: 99,321,166 (GRCm39)		probably null	Het
Nop9	C	T	14: 55,986,809 (GRCm39)	R240W	probably benign	Het
Notch2	T	C	3: 98,020,430 (GRCm39)	L775P	probably damaging	Het
Or13a27	T	C	7: 139,925,143 (GRCm39)	Y253C	probably damaging	Het
Or4c116	C	T	2: 88,942,629 (GRCm39)	V76I	probably benign	Het
Or55b10	T	A	7: 102,143,227 (GRCm39)	I252F	possibly damaging	Het
Or7a40	T	C	16: 16,491,579 (GRCm39)	N89D	probably benign	Het
Or8c9	A	G	9: 38,241,239 (GRCm39)	T116A	probably damaging	Het
Oxa1l	T	A	14: 54,600,934 (GRCm39)	W136R	probably damaging	Het
Palm3	T	A	8: 84,748,136 (GRCm39)	V7E	possibly damaging	Het
Pkhd1l1	C	G	15: 44,378,326 (GRCm39)	R1027G	possibly damaging	Het
Prickle2	A	T	6: 92,352,929 (GRCm39)	*902K	probably null	Het
Rassf7	C	T	7: 140,797,101 (GRCm39)	R105*	probably null	Het
Septin9	T	C	11: 117,217,337 (GRCm39)		probably null	Het
Sorbs3	T	C	14: 70,444,976 (GRCm39)	N34S	probably benign	Het
Sos2	T	C	12: 69,682,412 (GRCm39)	T269A	probably benign	Het
Spata20	T	G	11: 94,373,379 (GRCm39)	K497N	probably benign	Het
Speg	A	G	1: 75,407,923 (GRCm39)	D3206G	probably damaging	Het
Tenm4	A	G	7: 96,538,021 (GRCm39)	T1865A	probably damaging	Het
Tmc5	A	T	7: 118,222,549 (GRCm39)	Y83F	probably benign	Het
Tmem175	T	A	5: 108,789,715 (GRCm39)	D103E	probably damaging	Het
Top2b	A	C	14: 16,412,946 (GRCm38)	M952L	probably benign	Het
Vmn2r6	T	C	3: 64,463,941 (GRCm39)	I298V	probably benign	Het
Vmn2r69	T	C	7: 85,056,420 (GRCm39)	I573V	probably benign	Het
Vmn2r93	A	G	17: 18,518,731 (GRCm39)	I63M	probably benign	Het
Zfp568	G	A	7: 29,722,681 (GRCm39)	R542H	probably benign	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
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
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'- AGTCTTTCTAGGCAGCTAGGAG -3'
(R):5'- CTAACTTCAGCTGCTCGTCG -3'

Sequencing Primer
(F):5'- TCTTTCTAGGCAGCTAGGAGAGAGG -3'
(R):5'- ACCCAGAGCAGATCCAGGG -3'

Posted On

2019-10-17