Mutagenetix > Incidental Mutation

Incidental Mutation 'R3121:Foxn4'

263222

Institutional Source

Beutler Lab

Gene Symbol

Foxn4

Ensembl Gene

ENSMUSG00000042002

Gene Name

forkhead box N4

Synonyms

MMRRC Submission

040594-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114392225-114411868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114396776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 236 (T236A)

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: T236A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047951
Gene: ENSMUSG00000042002
AA Change: T236A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147953

Meta Mutation Damage Score

0.3351

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,966,091 (GRCm39)	M423K	probably benign	Het
Adamtsl1	T	A	4: 86,255,246 (GRCm39)	W780R	probably damaging	Het
Ago3	A	G	4: 126,311,165 (GRCm39)	I16T	probably benign	Het
Amph	T	A	13: 19,297,316 (GRCm39)	L354*	probably null	Het
Ankk1	G	A	9: 49,338,267 (GRCm39)	L9F	probably benign	Het
Brdt	A	G	5: 107,525,011 (GRCm39)	T851A	probably damaging	Het
Bzw2	A	C	12: 36,170,788 (GRCm39)		probably null	Het
Capn7	A	T	14: 31,081,167 (GRCm39)	I395F	probably damaging	Het
Ccdc146	T	C	5: 21,499,591 (GRCm39)	R864G	possibly damaging	Het
Ccdc50	G	T	16: 27,228,139 (GRCm39)	R102L	possibly damaging	Het
Cep83	T	C	10: 94,622,700 (GRCm39)	V592A	probably damaging	Het
Cgn	G	A	3: 94,685,792 (GRCm39)		probably benign	Het
Cidec	C	A	6: 113,405,086 (GRCm39)	V195L	probably benign	Het
Cntln	A	G	4: 84,923,289 (GRCm39)		probably benign	Het
Cntrob	A	T	11: 69,213,526 (GRCm39)	L88*	probably null	Het
Dnah17	C	T	11: 117,931,912 (GRCm39)	V3687M	probably damaging	Het
Dst	T	C	1: 34,328,729 (GRCm39)	I4599T	probably damaging	Het
Dtl	A	T	1: 191,285,175 (GRCm39)	Y320*	probably null	Het
Fam98b	A	G	2: 117,098,408 (GRCm39)	T293A	probably damaging	Het
Farp1	G	A	14: 121,460,138 (GRCm39)		probably benign	Het
Fat2	G	T	11: 55,202,622 (GRCm39)	P151T	probably damaging	Het
Fbxl17	A	T	17: 63,778,419 (GRCm39)	M497K	probably damaging	Het
Gm525	C	T	11: 88,979,374 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,386,448 (GRCm39)	T1190K	possibly damaging	Het
H2-T23	T	A	17: 36,341,855 (GRCm39)	M248L	probably benign	Het
Homez	T	C	14: 55,094,778 (GRCm39)	E310G	probably benign	Het
Hydin	A	G	8: 111,233,138 (GRCm39)	I1746V	probably benign	Het
Igkv1-35	T	A	6: 69,988,641 (GRCm39)	H6L	probably benign	Het
Kcnt2	T	C	1: 140,356,622 (GRCm39)	S354P	probably damaging	Het
Khdc4	A	G	3: 88,596,599 (GRCm39)	T127A	probably damaging	Het
Klra4	G	T	6: 130,040,141 (GRCm39)	Q44K	probably benign	Het
L3mbtl3	A	G	10: 26,220,119 (GRCm39)		probably benign	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Magea14	A	T	X: 51,057,968 (GRCm39)	Y239*	probably null	Het
Map3k9	A	G	12: 81,790,698 (GRCm39)	I285T	probably damaging	Het
Or4a47	T	A	2: 89,665,858 (GRCm39)	I144L	probably benign	Het
Or6c6	A	G	10: 129,186,552 (GRCm39)	N40S	possibly damaging	Het
Pcdhb16	A	T	18: 37,611,271 (GRCm39)	Q77L	possibly damaging	Het
Pramel20	T	A	4: 143,297,583 (GRCm39)	M1K	probably null	Het
Proser3	A	G	7: 30,239,796 (GRCm39)	V436A	probably benign	Het
Relch	A	G	1: 105,653,524 (GRCm39)	N834S	probably benign	Het
Resf1	T	A	6: 149,230,741 (GRCm39)	C1262*	probably null	Het
Sec24b	C	T	3: 129,795,953 (GRCm39)		probably null	Het
Slc2a2	A	G	3: 28,775,898 (GRCm39)	Q336R	probably benign	Het
Sowahb	T	C	5: 93,191,261 (GRCm39)	D486G	possibly damaging	Het
Spidr	T	C	16: 15,958,724 (GRCm39)	K13E	probably damaging	Het
Tiam2	T	A	17: 3,489,977 (GRCm39)	M786K	probably benign	Het
Tktl2	T	A	8: 66,964,808 (GRCm39)	V122E	probably damaging	Het
Wapl	A	G	14: 34,451,172 (GRCm39)	I729M	possibly damaging	Het
Zbbx	T	C	3: 74,989,153 (GRCm39)	T317A	possibly damaging	Het
Zfp976	A	G	7: 42,262,938 (GRCm39)	C300R	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
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
R8037:Foxn4	UTSW	5	114,394,658 (GRCm39)	missense	probably damaging	1.00
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'- AGCGAGGTCCTTTCGTTTC -3'
(R):5'- GAATTGTGGCCCAACTACAGAC -3'

Sequencing Primer
(F):5'- GAGGTCCTTTCGTTTCCACTTGTG -3'
(R):5'- GCTACTGTGTGCCCCAGTC -3'

Posted On

2015-02-05