Mutagenetix > Incidental Mutation

Incidental Mutation 'R1494:Foxp4'

250598

Institutional Source

Beutler Lab

Gene Symbol

Foxp4

Ensembl Gene

ENSMUSG00000023991

Gene Name

forkhead box P4

Synonyms

2310007G05Rik, 1200010K03Rik

MMRRC Submission

039545-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

R1494 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

48178058-48235401 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to C at 48191278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097311] [ENSMUST00000113262] [ENSMUST00000113263] [ENSMUST00000113265]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000097311

SMART Domains

Protein: ENSMUSP00000094916
Gene: ENSMUSG00000023991

Domain	Start	End	E-Value	Type
low complexity region	27	46	N/A	INTRINSIC
low complexity region	67	87	N/A	INTRINSIC
low complexity region	100	173	N/A	INTRINSIC
low complexity region	182	208	N/A	INTRINSIC
low complexity region	259	270	N/A	INTRINSIC
low complexity region	297	308	N/A	INTRINSIC
ZnF_C2H2	313	338	3.47e0	SMART
FH	470	552	4.69e-38	SMART
low complexity region	644	658	N/A	INTRINSIC
low complexity region	671	683	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113262

SMART Domains

Protein: ENSMUSP00000108887
Gene: ENSMUSG00000023991

Domain	Start	End	E-Value	Type
low complexity region	27	46	N/A	INTRINSIC
low complexity region	67	87	N/A	INTRINSIC
low complexity region	100	173	N/A	INTRINSIC
low complexity region	182	208	N/A	INTRINSIC
low complexity region	259	270	N/A	INTRINSIC
low complexity region	297	308	N/A	INTRINSIC
ZnF_C2H2	313	338	3.47e0	SMART
FH	458	540	4.69e-38	SMART
low complexity region	632	646	N/A	INTRINSIC
low complexity region	659	671	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113263

SMART Domains

Protein: ENSMUSP00000108888
Gene: ENSMUSG00000023991

Domain	Start	End	E-Value	Type
low complexity region	27	46	N/A	INTRINSIC
low complexity region	67	87	N/A	INTRINSIC
low complexity region	100	171	N/A	INTRINSIC
low complexity region	180	206	N/A	INTRINSIC
low complexity region	257	268	N/A	INTRINSIC
low complexity region	295	306	N/A	INTRINSIC
ZnF_C2H2	311	336	3.47e0	SMART
FH	468	550	4.69e-38	SMART
low complexity region	642	656	N/A	INTRINSIC
low complexity region	669	681	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113265

SMART Domains

Protein: ENSMUSP00000108890
Gene: ENSMUSG00000023991

Domain	Start	End	E-Value	Type
low complexity region	27	46	N/A	INTRINSIC
low complexity region	67	87	N/A	INTRINSIC
low complexity region	100	173	N/A	INTRINSIC
low complexity region	182	208	N/A	INTRINSIC
internal_repeat_1	214	282	3.94e-5	PROSPERO
low complexity region	296	307	N/A	INTRINSIC
ZnF_C2H2	312	337	3.47e0	SMART
FH	457	539	4.69e-38	SMART
internal_repeat_1	571	627	3.94e-5	PROSPERO
low complexity region	631	645	N/A	INTRINSIC
low complexity region	658	670	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154108

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.3%

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die before E12.5. Foregut closure is delayed leading to the development of two beating hearts and to the failure of the trachea and esophagus to separate. [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
1700067P10Rik	A	G	17: 48,400,991 (GRCm39)	E92G	probably benign	Het
Abca13	C	T	11: 9,416,429 (GRCm39)	Q4064*	probably null	Het
Abca14	G	A	7: 119,815,524 (GRCm39)	M257I	probably benign	Het
Acsm2	T	A	7: 119,174,855 (GRCm39)	C207S	probably damaging	Het
Actr3	A	G	1: 125,344,018 (GRCm39)	I67T	probably benign	Het
Adcy7	T	C	8: 89,046,835 (GRCm39)	V606A	probably benign	Het
Ahnak2	G	A	12: 112,751,570 (GRCm39)	S54F	probably damaging	Het
Ano6	T	C	15: 95,870,388 (GRCm39)	S848P	probably damaging	Het
Atg3	C	T	16: 44,992,123 (GRCm39)		probably benign	Het
Atp8b1	T	A	18: 64,697,597 (GRCm39)	S416C	probably damaging	Het
C2cd5	A	G	6: 142,987,072 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,954,735 (GRCm39)	V134E	probably damaging	Het
Ccnd3	A	G	17: 47,909,033 (GRCm39)		probably null	Het
Chaf1b	T	A	16: 93,684,998 (GRCm39)	V149E	probably damaging	Het
Col5a2	T	A	1: 45,542,074 (GRCm39)	M1L	unknown	Het
Copa	T	C	1: 171,931,694 (GRCm39)	I315T	probably benign	Het
Cyp3a57	A	G	5: 145,318,077 (GRCm39)	M353V	probably damaging	Het
Dcaf6	T	C	1: 165,160,942 (GRCm39)	M828V	probably damaging	Het
Dock2	T	A	11: 34,232,761 (GRCm39)	K1080*	probably null	Het
Dock6	A	G	9: 21,726,038 (GRCm39)	V1424A	probably benign	Het
Foxa1	T	C	12: 57,588,984 (GRCm39)	D412G	probably damaging	Het
Galnt9	T	A	5: 110,736,196 (GRCm39)	S171T	probably damaging	Het
Glt6d1	A	G	2: 25,684,260 (GRCm39)	Y249H	probably damaging	Het
Gm37240	A	T	3: 84,434,998 (GRCm39)	Y104N	probably damaging	Het
Gpx8	C	T	13: 113,182,149 (GRCm39)	E95K	possibly damaging	Het
Grm1	T	C	10: 10,565,450 (GRCm39)	T953A	probably benign	Het
Helz	T	C	11: 107,494,889 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,788,647 (GRCm39)	Y108C	probably damaging	Het
Kcnj13	A	T	1: 87,316,939 (GRCm39)	L58Q	probably damaging	Het
Mfsd14b	A	T	13: 65,243,485 (GRCm39)	V53D	probably damaging	Het
Mrps7	G	C	11: 115,494,952 (GRCm39)		probably benign	Het
Mug1	G	A	6: 121,856,259 (GRCm39)	G1013D	probably damaging	Het
Or52h7	T	A	7: 104,214,038 (GRCm39)	Y203*	probably null	Het
Or6c8	A	T	10: 128,915,484 (GRCm39)	M116K	probably damaging	Het
Pax6	T	C	2: 105,521,955 (GRCm39)	I19T	probably benign	Het
Pde8b	G	A	13: 95,184,304 (GRCm39)	R416C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pygl	G	A	12: 70,246,504 (GRCm39)	R348W	probably damaging	Het
Ralgapa1	T	A	12: 55,731,309 (GRCm39)	D1874V	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sncaip	T	C	18: 53,001,958 (GRCm39)	S160P	probably damaging	Het
Sptbn4	A	G	7: 27,133,719 (GRCm39)	V79A	probably damaging	Het
Sptlc3	A	T	2: 139,431,480 (GRCm39)	Y334F	possibly damaging	Het
Supt16	A	G	14: 52,409,916 (GRCm39)	Y764H	probably benign	Het
Syne3	A	T	12: 104,921,841 (GRCm39)	V438E	possibly damaging	Het
Tagap1	T	C	17: 7,224,210 (GRCm39)	D162G	probably damaging	Het
Terb1	T	C	8: 105,225,122 (GRCm39)		probably benign	Het
Themis3	C	A	17: 66,866,949 (GRCm39)	R97L	probably benign	Het
Tnk1	T	A	11: 69,747,372 (GRCm39)	E86D	possibly damaging	Het
Tnpo3	A	G	6: 29,557,043 (GRCm39)	L53P	probably damaging	Het
Trpc6	G	A	9: 8,658,305 (GRCm39)	R725K	probably benign	Het
Ttll11	T	G	2: 35,685,391 (GRCm39)	T566P	probably damaging	Het
Unc5c	A	T	3: 141,533,310 (GRCm39)	T779S	possibly damaging	Het
Zfp42	A	G	8: 43,748,638 (GRCm39)	C288R	possibly damaging	Het
Zfp763	G	A	17: 33,240,477 (GRCm39)	T52I	probably damaging	Het

Other mutations in Foxp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Foxp4	APN	17	48,199,078 (GRCm39)	missense	probably damaging	1.00
IGL02454:Foxp4	APN	17	48,186,507 (GRCm39)	nonsense	probably null
IGL03048:Foxp4	UTSW	17	48,191,765 (GRCm39)	missense	unknown
R0138:Foxp4	UTSW	17	48,180,104 (GRCm39)	missense	unknown
R1180:Foxp4	UTSW	17	48,191,278 (GRCm39)	splice site	probably benign
R1268:Foxp4	UTSW	17	48,191,278 (GRCm39)	splice site	probably benign
R1282:Foxp4	UTSW	17	48,186,568 (GRCm39)	missense	unknown
R1845:Foxp4	UTSW	17	48,188,884 (GRCm39)	missense	probably null
R1956:Foxp4	UTSW	17	48,186,796 (GRCm39)	missense	unknown
R1958:Foxp4	UTSW	17	48,186,796 (GRCm39)	missense	unknown
R1969:Foxp4	UTSW	17	48,186,796 (GRCm39)	missense	unknown
R1970:Foxp4	UTSW	17	48,186,796 (GRCm39)	missense	unknown
R1971:Foxp4	UTSW	17	48,186,796 (GRCm39)	missense	unknown
R2240:Foxp4	UTSW	17	48,182,201 (GRCm39)	missense	unknown
R3847:Foxp4	UTSW	17	48,186,453 (GRCm39)	missense	unknown
R3848:Foxp4	UTSW	17	48,186,453 (GRCm39)	missense	unknown
R3849:Foxp4	UTSW	17	48,186,453 (GRCm39)	missense	unknown
R4345:Foxp4	UTSW	17	48,185,573 (GRCm39)	missense	unknown
R5572:Foxp4	UTSW	17	48,191,804 (GRCm39)	missense	unknown
R5726:Foxp4	UTSW	17	48,180,033 (GRCm39)	missense	unknown
R6386:Foxp4	UTSW	17	48,189,387 (GRCm39)	missense	unknown
R6510:Foxp4	UTSW	17	48,186,335 (GRCm39)	missense	unknown
R8087:Foxp4	UTSW	17	48,215,355 (GRCm39)	missense	probably damaging	1.00
R8290:Foxp4	UTSW	17	48,191,778 (GRCm39)	missense	unknown
R9272:Foxp4	UTSW	17	48,180,033 (GRCm39)	missense	unknown
X0025:Foxp4	UTSW	17	48,188,890 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GATGGGATGACAGGAATCTGCTGC -3'
(R):5'- TGACCTCACTTTAGAACTCCGAGGG -3'

Sequencing Primer
(F):5'- ggggagaaaagatgggtagg -3'
(R):5'- CTTTAGAACTCCGAGGGAGCAG -3'

Posted On

2014-11-21