Mutagenetix > Incidental Mutation

Incidental Mutation 'R1180:Foxp4'

101520

Institutional Source

Beutler Lab

Gene Symbol

Foxp4

Ensembl Gene

ENSMUSG00000023991

Gene Name

forkhead box P4

Synonyms

2310007G05Rik, 1200010K03Rik

MMRRC Submission

039252-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

R1180 (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: 98.8%
3x: 97.8%
10x: 94.5%
20x: 87.5%

Validation Efficiency

98% (55/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,141 (GRCm39)	D281E	probably benign	Het
Adam24	T	G	8: 41,134,467 (GRCm39)	V645G	probably damaging	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Cadps	A	G	14: 12,457,836 (GRCm38)		probably benign	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Chd8	A	C	14: 52,458,565 (GRCm39)	S848A	probably damaging	Het
Col6a3	T	C	1: 90,709,577 (GRCm39)	K1873R	unknown	Het
Cpd	T	C	11: 76,692,579 (GRCm39)	T753A	possibly damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Dock4	A	G	12: 40,690,413 (GRCm39)	E173G	possibly damaging	Het
EU599041	G	A	7: 42,875,731 (GRCm39)		noncoding transcript	Het
Fer1l6	G	A	15: 58,474,160 (GRCm39)		probably benign	Het
Flt3	T	C	5: 147,278,048 (GRCm39)	D842G	probably damaging	Het
Fsip2	T	C	2: 82,805,570 (GRCm39)	Y630H	probably damaging	Het
Gprin3	C	A	6: 59,331,921 (GRCm39)	V129F	possibly damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hoxa3	A	C	6: 52,147,382 (GRCm39)	Y290*	probably null	Het
Htra4	G	T	8: 25,523,735 (GRCm39)	L277I	probably damaging	Het
Jak2	A	G	19: 29,259,899 (GRCm39)	Y266C	probably damaging	Het
Kif6	T	A	17: 50,139,284 (GRCm39)		probably benign	Het
Kiz	C	T	2: 146,811,927 (GRCm39)	R679C	unknown	Het
Kyat3	A	C	3: 142,443,531 (GRCm39)		probably null	Het
Mipep	G	A	14: 61,071,505 (GRCm39)	V537I	probably damaging	Het
Mrpl44	T	A	1: 79,755,677 (GRCm39)	N94K	probably damaging	Het
Mstn	A	T	1: 53,103,167 (GRCm39)	T168S	possibly damaging	Het
Mx2	G	A	16: 97,357,209 (GRCm39)	R434H	probably damaging	Het
Myh6	A	G	14: 55,181,925 (GRCm39)	I1792T	possibly damaging	Het
Myo16	T	C	8: 10,446,908 (GRCm39)	S450P	probably damaging	Het
Nherf4	T	A	9: 44,160,543 (GRCm39)	D284V	probably benign	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Psmd8	A	T	7: 28,874,825 (GRCm39)	V248E	probably benign	Het
Ranbp2	A	G	10: 58,301,285 (GRCm39)	Y646C	probably damaging	Het
Samsn1	C	T	16: 75,670,536 (GRCm39)	G189E	probably damaging	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Sfmbt2	C	T	2: 10,406,877 (GRCm39)	H59Y	probably damaging	Het
Shb	T	C	4: 45,423,996 (GRCm39)	I486V	possibly damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Spag16	G	A	1: 69,962,817 (GRCm39)		probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tk1	A	G	11: 117,712,921 (GRCm39)		probably null	Het
Tnni3k	A	T	3: 154,581,150 (GRCm39)	H600Q	probably damaging	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ube2q2	T	C	9: 55,102,700 (GRCm39)		probably benign	Het
Utp14b	C	A	1: 78,643,162 (GRCm39)	N353K	probably damaging	Het
Zfp474	C	T	18: 52,771,814 (GRCm39)	Q156*	probably null	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
R1268:Foxp4	UTSW	17	48,191,278 (GRCm39)	splice site	probably benign
R1282:Foxp4	UTSW	17	48,186,568 (GRCm39)	missense	unknown
R1494:Foxp4	UTSW	17	48,191,278 (GRCm39)	splice site	probably benign
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

2014-01-15