Mutagenetix > Incidental Mutation

Incidental Mutation 'R8037:Foxn4'

618284

Institutional Source

Beutler Lab

Gene Symbol

Foxn4

Ensembl Gene

ENSMUSG00000042002

Gene Name

forkhead box N4

Synonyms

MMRRC Submission

067474-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114392225-114411868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114394658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 423 (D423G)

Ref Sequence

ENSEMBL: ENSMUSP00000047951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044790] [ENSMUST00000129530] [ENSMUST00000144050]

AlphaFold

Q8K3Q3

Predicted Effect

probably damaging
Transcript: ENSMUST00000044790
AA Change: D423G

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

SMART Domains

Protein: ENSMUSP00000047951
Gene: ENSMUSG00000042002
AA Change: D423G

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
FH	195	287	2.15e-46	SMART
low complexity region	386	403	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129530

Predicted Effect

probably benign
Transcript: ENSMUST00000144050

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004 [PubMed 15363391]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality and abnormal retina morphology with a total loss of horizontal cells and decreased amacrine cell number. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,243,904 (GRCm39)	W1922C	probably damaging	Het
Acad11	T	A	9: 103,953,035 (GRCm39)	I88N	possibly damaging	Het
Adgrf3	A	T	5: 30,404,510 (GRCm39)	C309S	probably damaging	Het
Ankhd1	T	A	18: 36,771,676 (GRCm39)	V1343E	probably damaging	Het
Aqr	A	T	2: 113,992,161 (GRCm39)	Y72N	probably damaging	Het
Bptf	T	C	11: 106,946,776 (GRCm39)	T2339A	probably damaging	Het
Ccdc121rt3	A	G	5: 112,502,882 (GRCm39)	V274A	probably benign	Het
Ccr8	T	C	9: 119,923,436 (GRCm39)	F184L	probably benign	Het
Dbh	A	G	2: 27,055,700 (GRCm39)	D58G	probably damaging	Het
Depdc5	T	C	5: 33,116,692 (GRCm39)		probably null	Het
Dhdds	G	A	4: 133,724,158 (GRCm39)	T52I	probably benign	Het
Dnmt1	A	C	9: 20,852,860 (GRCm39)	V82G	probably damaging	Het
Efemp2	C	T	19: 5,530,141 (GRCm39)	Q290*	probably null	Het
Eipr1	A	G	12: 28,914,676 (GRCm39)	S277G	probably benign	Het
Fam110b	A	G	4: 5,799,511 (GRCm39)	I310V	possibly damaging	Het
Fsip2	T	A	2: 82,816,322 (GRCm39)	N4018K	possibly damaging	Het
Gm12887	T	A	4: 121,472,887 (GRCm39)	D85V	probably damaging	Het
Gys2	A	G	6: 142,394,119 (GRCm39)	V473A	probably benign	Het
Hnrnpu	A	T	1: 178,159,917 (GRCm39)	F388Y	unknown	Het
Hoxa5	A	G	6: 52,181,309 (GRCm39)	S8P	probably damaging	Het
Ier5	A	T	1: 154,975,175 (GRCm39)	M1K	probably null	Het
Ighv1-52	A	G	12: 115,109,210 (GRCm39)	F83S	probably damaging	Het
Lrch1	T	C	14: 75,023,794 (GRCm39)	D577G	probably damaging	Het
Lrrk1	A	T	7: 65,935,089 (GRCm39)	M1010K	probably benign	Het
Mttp	T	G	3: 137,796,883 (GRCm39)	N873T	probably damaging	Het
Nphs2	A	G	1: 156,138,400 (GRCm39)	R15G	possibly damaging	Het
Or4a70	A	T	2: 89,324,055 (GRCm39)	N200K	possibly damaging	Het
Or5d16	T	C	2: 87,773,319 (GRCm39)	T218A	probably benign	Het
Or8d6	T	A	9: 39,854,177 (GRCm39)	V207D	probably damaging	Het
Pcdhga8	T	C	18: 37,860,071 (GRCm39)	S376P	probably damaging	Het
Pde3a	A	G	6: 141,429,650 (GRCm39)	N737S	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgap6	T	C	17: 26,336,509 (GRCm39)	L209P	possibly damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rin1	T	A	19: 5,101,852 (GRCm39)	L179Q	probably damaging	Het
Sec63	T	A	10: 42,659,483 (GRCm39)	M57K	probably benign	Het
Senp2	C	T	16: 21,832,888 (GRCm39)	Q59*	probably null	Het
St8sia5	G	A	18: 77,336,238 (GRCm39)	V224I	possibly damaging	Het
Sycp2	A	T	2: 178,045,571 (GRCm39)	D16E	probably damaging	Het
Tab1	A	G	15: 80,044,471 (GRCm39)	T500A	probably benign	Het
Tead1	A	G	7: 112,358,727 (GRCm39)	D13G	possibly damaging	Het
Tecpr2	T	C	12: 110,902,854 (GRCm39)	F860L	probably benign	Het
Tg	A	G	15: 66,560,724 (GRCm39)	M1029V	probably benign	Het
Tnni2	A	G	7: 141,997,691 (GRCm39)	R109G	probably damaging	Het
Unc79	A	G	12: 103,016,178 (GRCm39)	K320R	probably damaging	Het
Vmn1r9	T	A	6: 57,047,988 (GRCm39)	V21D	probably benign	Het
Zfp64	A	G	2: 168,741,932 (GRCm39)	F332S	probably damaging	Het

Other mutations in Foxn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02990:Foxn4	APN	5	114,411,050 (GRCm39)	missense	probably damaging	0.98
R0001:Foxn4	UTSW	5	114,398,931 (GRCm39)	missense	probably damaging	1.00
R0194:Foxn4	UTSW	5	114,397,809 (GRCm39)	critical splice donor site	probably null
R0555:Foxn4	UTSW	5	114,401,175 (GRCm39)	missense	probably damaging	1.00
R0617:Foxn4	UTSW	5	114,399,129 (GRCm39)	splice site	probably benign
R1662:Foxn4	UTSW	5	114,394,955 (GRCm39)	missense	probably benign
R1785:Foxn4	UTSW	5	114,401,193 (GRCm39)	missense	probably damaging	0.99
R1786:Foxn4	UTSW	5	114,401,193 (GRCm39)	missense	probably damaging	0.99
R2266:Foxn4	UTSW	5	114,393,662 (GRCm39)	missense	probably damaging	0.99
R2267:Foxn4	UTSW	5	114,393,662 (GRCm39)	missense	probably damaging	0.99
R2268:Foxn4	UTSW	5	114,393,662 (GRCm39)	missense	probably damaging	0.99
R2269:Foxn4	UTSW	5	114,393,662 (GRCm39)	missense	probably damaging	0.99
R2397:Foxn4	UTSW	5	114,393,556 (GRCm39)	missense	probably damaging	1.00
R3121:Foxn4	UTSW	5	114,396,776 (GRCm39)	missense	probably damaging	0.99
R3122:Foxn4	UTSW	5	114,396,776 (GRCm39)	missense	probably damaging	0.99
R4579:Foxn4	UTSW	5	114,394,886 (GRCm39)	missense	possibly damaging	0.65
R4623:Foxn4	UTSW	5	114,398,991 (GRCm39)	missense	possibly damaging	0.64
R4749:Foxn4	UTSW	5	114,393,628 (GRCm39)	missense	probably damaging	1.00
R5083:Foxn4	UTSW	5	114,394,988 (GRCm39)	missense	probably damaging	1.00
R5100:Foxn4	UTSW	5	114,394,820 (GRCm39)	missense	possibly damaging	0.87
R5661:Foxn4	UTSW	5	114,411,053 (GRCm39)	missense	probably benign
R7015:Foxn4	UTSW	5	114,394,916 (GRCm39)	missense	possibly damaging	0.95
R7292:Foxn4	UTSW	5	114,396,716 (GRCm39)	nonsense	probably null
R7342:Foxn4	UTSW	5	114,396,760 (GRCm39)	missense	probably damaging	1.00
R7627:Foxn4	UTSW	5	114,398,495 (GRCm39)	missense	possibly damaging	0.87
R7695:Foxn4	UTSW	5	114,394,648 (GRCm39)	missense	probably damaging	1.00
R7970:Foxn4	UTSW	5	114,401,068 (GRCm39)	critical splice donor site	probably null
R8038:Foxn4	UTSW	5	114,394,658 (GRCm39)	missense	probably damaging	1.00
R9339:Foxn4	UTSW	5	114,394,955 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAGTGTAACCCCACCTGAC -3'
(R):5'- CACTGATGACCCTGTCCCTG -3'

Sequencing Primer
(F):5'- ACCTGACTTAGCGTGTGTAAC -3'
(R):5'- CTGTCCCTGCAGTCAGTG -3'

Posted On

2020-01-23