Mutagenetix > Incidental Mutation

Incidental Mutation 'R7176:Foxn1'

558632

Institutional Source

Beutler Lab

Gene Symbol

Foxn1

Ensembl Gene

ENSMUSG00000002057

Gene Name

forkhead box N1

Synonyms

whn, D11Bhm185e, Hfh11

MMRRC Submission

045267-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7176 (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 C at 78251693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 513 (R513G)

Ref Sequence

ENSEMBL: ENSMUSP00000103929 (fasta)

Gene Model

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

AlphaFold

Q61575

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108294
AA Change: R513G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103929
Gene: ENSMUSG00000002057
AA Change: R513G

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: 100.0%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,203 (GRCm39)	H267N	probably benign	Het
Abtb2	A	G	2: 103,539,720 (GRCm39)	D695G	probably benign	Het
Adam21	C	T	12: 81,607,022 (GRCm39)	D247N	possibly damaging	Het
Adnp	T	C	2: 168,024,578 (GRCm39)	N906D	probably benign	Het
Ankrd17	A	T	5: 90,416,594 (GRCm39)	H1079Q	probably damaging	Het
Aqp3	T	A	4: 41,095,202 (GRCm39)	N60Y	probably damaging	Het
Art4	T	G	6: 136,834,166 (GRCm39)	T26P	probably benign	Het
Arvcf	T	C	16: 18,218,477 (GRCm39)	L553P	probably damaging	Het
Asxl1	T	A	2: 153,243,908 (GRCm39)	I1487N	probably damaging	Het
Capn3	A	T	2: 120,334,973 (GRCm39)	Y820F	possibly damaging	Het
Catip	A	G	1: 74,401,941 (GRCm39)	T39A	probably damaging	Het
Ccdc168	A	T	1: 44,099,506 (GRCm39)	S531T	probably benign	Het
Ccdc18	T	A	5: 108,315,972 (GRCm39)	C481S	probably benign	Het
Ccnf	A	G	17: 24,468,376 (GRCm39)	I7T	possibly damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdkl4	A	T	17: 80,851,221 (GRCm39)	Y160*	probably null	Het
Celsr3	C	T	9: 108,722,961 (GRCm39)	P2783S	probably benign	Het
Cisd3	A	T	11: 97,576,959 (GRCm39)	D11V	probably benign	Het
Daxx	A	T	17: 34,132,292 (GRCm39)	H512L	unknown	Het
Dip2b	A	G	15: 100,067,199 (GRCm39)	H567R	probably damaging	Het
Dnah7c	C	A	1: 46,469,969 (GRCm39)	A18E	probably benign	Het
Eif3d	A	T	15: 77,847,434 (GRCm39)	V268D	probably damaging	Het
Eif4g3	T	A	4: 137,898,497 (GRCm39)	H1089Q	probably damaging	Het
Fmnl2	A	G	2: 53,004,162 (GRCm39)	M625V	unknown	Het
Gemin5	C	T	11: 58,056,828 (GRCm39)	V134I	probably benign	Het
Gtf2h3	A	G	5: 124,728,433 (GRCm39)	R161G	probably damaging	Het
Ice1	A	G	13: 70,772,525 (GRCm39)		probably null	Het
Il1rl1	T	C	1: 40,485,766 (GRCm39)	Y306H	probably damaging	Het
Kbtbd7	A	T	14: 79,665,194 (GRCm39)	E342V	possibly damaging	Het
Kyat3	A	T	3: 142,443,600 (GRCm39)	K404N	possibly damaging	Het
Lins1	T	C	7: 66,363,553 (GRCm39)	W483R	probably benign	Het
Lipo2	A	G	19: 33,723,207 (GRCm39)	I194T	possibly damaging	Het
Mcm8	G	T	2: 132,661,992 (GRCm39)	A137S	probably benign	Het
Mdm1	C	A	10: 117,978,770 (GRCm39)	Q12K	probably damaging	Het
Mrgprb5	C	A	7: 47,818,059 (GRCm39)	L225F	possibly damaging	Het
Myh11	T	A	16: 14,033,690 (GRCm39)	H1068L		Het
Ngef	A	T	1: 87,408,417 (GRCm39)	V550E	possibly damaging	Het
Nrg1	G	A	8: 32,458,064 (GRCm39)	Q84*	probably null	Het
Obp2b	G	T	2: 25,627,760 (GRCm39)	V59L	possibly damaging	Het
Ocln	C	A	13: 100,651,590 (GRCm39)	G327C	probably damaging	Het
Ocln	A	C	13: 100,651,591 (GRCm39)	N326K	probably benign	Het
Or10ag55-ps1	C	T	2: 87,115,378 (GRCm39)	A248V	probably damaging	Het
Otogl	T	C	10: 107,614,772 (GRCm39)	D1960G	probably damaging	Het
Pik3c2a	T	C	7: 115,987,331 (GRCm39)	D530G	possibly damaging	Het
Plod1	A	T	4: 147,997,744 (GRCm39)	M655K	probably benign	Het
Ppp4r3b	A	G	11: 29,148,904 (GRCm39)	N449D	probably damaging	Het
Ppp6r3	G	T	19: 3,521,989 (GRCm39)	T563K	probably damaging	Het
Prepl	T	A	17: 85,376,454 (GRCm39)	L533F	probably benign	Het
Rbl1	G	A	2: 157,030,245 (GRCm39)	R421W	probably damaging	Het
Rrp15	G	A	1: 186,453,730 (GRCm39)	S239L	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sbno1	A	G	5: 124,530,944 (GRCm39)	S815P	probably benign	Het
Scn7a	G	A	2: 66,506,632 (GRCm39)	T1419I	probably damaging	Het
Setdb1	A	G	3: 95,244,458 (GRCm39)		probably null	Het
Shpk	A	G	11: 73,113,814 (GRCm39)	H409R	probably benign	Het
Slamf6	A	C	1: 171,761,858 (GRCm39)	N93T	probably benign	Het
Slc27a4	A	G	2: 29,701,238 (GRCm39)	N343S	probably benign	Het
Slc35g1	T	A	19: 38,391,771 (GRCm39)	V351E	probably damaging	Het
Smcr8	A	T	11: 60,669,772 (GRCm39)	I307F	probably damaging	Het
Spats2l	T	C	1: 57,977,077 (GRCm39)	I305T	possibly damaging	Het
Speer4c1	T	C	5: 15,916,536 (GRCm39)	T144A	probably benign	Het
Tbl3	G	A	17: 24,919,732 (GRCm39)	T774I	probably benign	Het
Ush2a	A	G	1: 188,269,925 (GRCm39)	H1724R	probably benign	Het
Vcan	A	G	13: 89,837,055 (GRCm39)	S2830P	probably benign	Het
Vmn2r27	T	A	6: 124,168,995 (GRCm39)	I712F	probably benign	Het
Wdr59	T	G	8: 112,219,388 (GRCm39)	Q223P		Het
Zfp28	T	A	7: 6,386,456 (GRCm39)	C22S	possibly damaging	Het
Zfp536	T	G	7: 37,180,276 (GRCm39)		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
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
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'- CGCCTCAGGTGACAAGAAAC -3'
(R):5'- TGGACAGCCTCATTGGAGAC -3'

Sequencing Primer
(F):5'- CCTCAGGTGACAAGAAACTCAGG -3'
(R):5'- AAAAACTGGGCTCTCCGCTG -3'

Posted On

2019-06-26