Mutagenetix > Incidental Mutations

Incidental Mutation 'R7695:Foxn4'

593597

Institutional Source

Beutler Lab

Gene Symbol

Foxn4

Ensembl Gene

ENSMUSG00000042002

Gene Name

forkhead box N4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114254164-114273807 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114256587 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 426 (D426E)

Ref Sequence

ENSEMBL: ENSMUSP00000047951 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044790
AA Change: D426E

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

SMART Domains

Protein: ENSMUSP00000047951
Gene: ENSMUSG00000042002
AA Change: D426E

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: 99.7%
20x: 99.2%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	T	C	13: 98,984,258	T87A	probably damaging	Het
Adgrb1	T	C	15: 74,543,638	V689A	possibly damaging	Het
Casp12	A	G	9: 5,353,641	E225G	probably damaging	Het
Ccdc39	A	G	3: 33,814,519	L806P	probably damaging	Het
Ccnd3	T	A	17: 47,597,496	I164N	probably damaging	Het
Cd209b	A	G	8: 3,926,005	V52A	probably benign	Het
Celsr2	G	A	3: 108,402,753	R1554W	probably damaging	Het
Cnot1	A	T	8: 95,770,632	I239N	probably benign	Het
Csmd3	A	T	15: 47,820,381	V948D		Het
Dnmt1	C	A	9: 20,913,985	G1061V	probably null	Het
Dpysl4	A	G	7: 139,086,123	M1V	probably null	Het
Elp5	T	C	11: 69,969,501	T227A	probably benign	Het
Exosc1	G	A	19: 41,928,080	H86Y	possibly damaging	Het
Gabbr2	A	G	4: 46,875,687	L145P	probably damaging	Het
Gkn3	A	G	6: 87,384,440	Y126H	probably damaging	Het
Gm16506	A	G	14: 43,725,006	F148S		Het
Gm3558	A	G	14: 7,551,798	I76T	probably benign	Het
Gm49359	A	G	13: 62,456,744	F45S	possibly damaging	Het
Gpc5	A	T	14: 115,092,594	H63L	unknown	Het
Hbs1l	A	T	10: 21,299,217	D28V	possibly damaging	Het
Ide	G	A	19: 37,329,036	H113Y		Het
Igkv3-3	A	T	6: 70,687,311	S46C	probably damaging	Het
Igsf10	A	T	3: 59,326,191	V1707D	probably damaging	Het
Kcna5	A	T	6: 126,534,211	V318E	probably damaging	Het
Kdm3b	T	C	18: 34,794,559	F158S	possibly damaging	Het
Lrrc14b	T	A	13: 74,363,178	D261V	possibly damaging	Het
Lrrc71	T	A	3: 87,739,462	I485F	probably damaging	Het
Map6	C	T	7: 99,336,292	L671F	possibly damaging	Het
Mast1	A	G	8: 84,920,928	V560A	probably damaging	Het
Mfap4	A	T	11: 61,485,719		probably null	Het
Myh9	A	G	15: 77,766,736	I1637T	probably benign	Het
Neo1	A	T	9: 58,902,929	F1080I	possibly damaging	Het
Olfr1269	A	G	2: 90,118,863	V245A	probably benign	Het
Olfr1298	A	G	2: 111,645,625	V124A	probably damaging	Het
Olfr23	T	A	11: 73,940,894	V216E	possibly damaging	Het
Olfr559	T	C	7: 102,723,659	H277R	probably benign	Het
Pax2	A	G	19: 44,833,199	Y318C	probably damaging	Het
Pcnx4	A	T	12: 72,541,576	M53L	probably benign	Het
Pkd2l2	T	A	18: 34,428,245	D435E	possibly damaging	Het
Plec	G	A	15: 76,183,855	Q1117*	probably null	Het
Ppp2r2c	T	C	5: 36,947,182	L302P	probably damaging	Het
Prex2	T	C	1: 11,162,273	F855L	probably benign	Het
Reg3d	A	T	6: 78,377,136	W103R	probably benign	Het
Rnf216	A	C	5: 143,085,904	H440Q	possibly damaging	Het
Scn2a	A	G	2: 65,711,907	T785A	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,831	Y844F	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C		Het
Spp1	T	C	5: 104,435,143		probably benign	Het
Tacc2	T	A	7: 130,728,903	S196T	probably benign	Het
Thrap3	G	A	4: 126,180,098	S285L	probably damaging	Het
Ttn	T	A	2: 76,835,961	R11584*	probably null	Het
Ubap2	A	G	4: 41,211,740	S341P	probably damaging	Het
Upf3a	T	G	8: 13,798,279	S358R	probably benign	Het
Zdbf2	T	A	1: 63,307,370	I1636N	possibly damaging	Het
Zfp946	C	A	17: 22,455,021	T252N	probably benign	Het

Other mutations in Foxn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02990:Foxn4	APN	5	114272989	missense	probably damaging	0.98
R0001:Foxn4	UTSW	5	114260870	missense	probably damaging	1.00
R0194:Foxn4	UTSW	5	114259748	critical splice donor site	probably null
R0555:Foxn4	UTSW	5	114263114	missense	probably damaging	1.00
R0617:Foxn4	UTSW	5	114261068	splice site	probably benign
R1662:Foxn4	UTSW	5	114256894	missense	probably benign
R1785:Foxn4	UTSW	5	114263132	missense	probably damaging	0.99
R1786:Foxn4	UTSW	5	114263132	missense	probably damaging	0.99
R2266:Foxn4	UTSW	5	114255601	missense	probably damaging	0.99
R2267:Foxn4	UTSW	5	114255601	missense	probably damaging	0.99
R2268:Foxn4	UTSW	5	114255601	missense	probably damaging	0.99
R2269:Foxn4	UTSW	5	114255601	missense	probably damaging	0.99
R2397:Foxn4	UTSW	5	114255495	missense	probably damaging	1.00
R3121:Foxn4	UTSW	5	114258715	missense	probably damaging	0.99
R3122:Foxn4	UTSW	5	114258715	missense	probably damaging	0.99
R4579:Foxn4	UTSW	5	114256825	missense	possibly damaging	0.65
R4623:Foxn4	UTSW	5	114260930	missense	possibly damaging	0.64
R4749:Foxn4	UTSW	5	114255567	missense	probably damaging	1.00
R5083:Foxn4	UTSW	5	114256927	missense	probably damaging	1.00
R5100:Foxn4	UTSW	5	114256759	missense	possibly damaging	0.87
R5661:Foxn4	UTSW	5	114272992	missense	probably benign
R7015:Foxn4	UTSW	5	114256855	missense	possibly damaging	0.95
R7292:Foxn4	UTSW	5	114258655	nonsense	probably null
R7342:Foxn4	UTSW	5	114258699	missense	probably damaging	1.00
R7627:Foxn4	UTSW	5	114260434	missense	possibly damaging	0.87
R7970:Foxn4	UTSW	5	114263007	critical splice donor site	probably null
R8037:Foxn4	UTSW	5	114256597	missense	probably damaging	1.00
R8038:Foxn4	UTSW	5	114256597	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2019-11-12