Mutagenetix > Incidental Mutation

Incidental Mutation 'R1845:Foxp4'

207689

Institutional Source

Beutler Lab

Gene Symbol

Foxp4

Ensembl Gene

ENSMUSG00000023991

Gene Name

forkhead box P4

Synonyms

MMRRC Submission

039870-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R1845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47867133-47924645 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47877959 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 321 (T321S)

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 null
Transcript: ENSMUST00000097311
AA Change: T322S

SMART Domains

Protein: ENSMUSP00000094916
Gene: ENSMUSG00000023991
AA Change: T322S

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 null
Transcript: ENSMUST00000113262
AA Change: T322S

SMART Domains

Protein: ENSMUSP00000108887
Gene: ENSMUSG00000023991
AA Change: T322S

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 null
Transcript: ENSMUST00000113263
AA Change: T320S

SMART Domains

Protein: ENSMUSP00000108888
Gene: ENSMUSG00000023991
AA Change: T320S

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 null
Transcript: ENSMUST00000113265
AA Change: T321S

SMART Domains

Protein: ENSMUSP00000108890
Gene: ENSMUSG00000023991
AA Change: T321S

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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,304,332	I142N	possibly damaging	Het
1110038F14Rik	CGGG	CGGGGGG	15: 76,949,663		probably benign	Het
Abca17	A	T	17: 24,267,716	C1446S	probably damaging	Het
Asb16	C	A	11: 102,276,756	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,376,544	V384I	possibly damaging	Het
BC024139	A	T	15: 76,125,261	L207*	probably null	Het
Bcl3	T	G	7: 19,809,627	S305R	probably damaging	Het
Cachd1	T	C	4: 100,777,358	V77A	probably benign	Het
Cd101	C	T	3: 101,029,448		probably null	Het
Cela1	T	C	15: 100,685,167	N64S	probably benign	Het
Cep128	T	C	12: 91,289,598	D366G	probably benign	Het
Col12a1	A	G	9: 79,697,541	V675A	probably benign	Het
Copg1	A	G	6: 87,893,818	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,487,917	R372G	probably benign	Het
Dcaf1	A	C	9: 106,851,962	I567L	probably benign	Het
Dcn	A	G	10: 97,506,674	D164G	probably benign	Het
Dnase2a	T	A	8: 84,909,322	H113Q	probably benign	Het
Espl1	T	C	15: 102,299,013	V304A	probably benign	Het
Fam193a	A	G	5: 34,443,372	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,531,035		probably null	Het
Fut10	A	G	8: 31,236,300	N361S	probably damaging	Het
Gm13762	A	G	2: 88,973,138	V251A	probably benign	Het
Gyg	A	T	3: 20,151,122	V94D	probably damaging	Het
Has2	T	C	15: 56,668,578	K247R	probably damaging	Het
Helz2	G	T	2: 181,232,085	D2205E	probably benign	Het
Hps6	T	A	19: 46,004,970	S449T	probably benign	Het
Ints10	T	C	8: 68,794,671	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,356,961	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,303,810	V280A	possibly damaging	Het
Klk1b5	A	G	7: 44,220,125	M210V	probably benign	Het
Kmt2c	G	A	5: 25,373,436	A614V	probably benign	Het
Lck	T	A	4: 129,558,086	I45F	probably benign	Het
Lin7a	A	C	10: 107,412,059	E75A	probably damaging	Het
Lrp1	A	T	10: 127,578,673	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 24,914,583	N289K	probably benign	Het
Mbtps1	T	C	8: 119,522,493	D686G	probably benign	Het
Mknk1	T	A	4: 115,873,231	C178*	probably null	Het
Mtmr6	A	G	14: 60,296,735	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,840,157		probably null	Het
Myh6	T	C	14: 54,944,674	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,635,531	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,927,041	F30S	probably damaging	Het
Nop14	G	T	5: 34,650,328	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1212	A	G	2: 88,958,867	I134V	probably damaging	Het
Olfr347	A	T	2: 36,734,842	I174F	probably damaging	Het
Olfr775	A	G	10: 129,250,594	E20G	probably benign	Het
Olfr794	A	T	10: 129,571,348	Q231L	probably damaging	Het
Olfr829	A	T	9: 18,857,486	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 97,059,128	S378R	probably damaging	Het
Otof	A	T	5: 30,371,723	Y1775*	probably null	Het
Parp16	T	C	9: 65,215,594	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pi16	A	T	17: 29,319,387	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,539,452	M190I	probably benign	Het
Plscr4	T	G	9: 92,490,046	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,723,806	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,368,611	L15Q	probably damaging	Het
Ptpn14	C	A	1: 189,839,502	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,954,899	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,497,070	Y342*	probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sltm	A	G	9: 70,543,032	N38S	possibly damaging	Het
Smg1	T	C	7: 118,154,622		probably benign	Het
Spsb1	A	T	4: 149,906,910	V67E	probably damaging	Het
Suox	A	G	10: 128,670,539	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,911,085	I483N	probably damaging	Het
Tbcb	A	T	7: 30,224,499	D198E	possibly damaging	Het
Tbce	T	C	13: 14,019,709	K122E	probably benign	Het
Tcap	T	A	11: 98,384,379	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,041	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,374,503	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,579,943	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,431,355	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,458,903	W1103R	probably damaging	Het
Ttn	C	T	2: 76,764,033	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,812,738	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,454,554	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,001,995	Y394*	probably null	Het
Zfp212	T	C	6: 47,931,541	S485P	probably benign	Het
Zfp512b	A	T	2: 181,585,735	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,671,741	Y974H	probably damaging	Het

Other mutations in Foxp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Foxp4	APN	17	47888153	missense	probably damaging	1.00
IGL02454:Foxp4	APN	17	47875582	nonsense	probably null
IGL03048:Foxp4	UTSW	17	47880840	missense	unknown
R0138:Foxp4	UTSW	17	47869179	missense	unknown
R1180:Foxp4	UTSW	17	47880353	splice site	probably benign
R1268:Foxp4	UTSW	17	47880353	splice site	probably benign
R1282:Foxp4	UTSW	17	47875643	missense	unknown
R1494:Foxp4	UTSW	17	47880353	splice site	probably benign
R1956:Foxp4	UTSW	17	47875871	missense	unknown
R1958:Foxp4	UTSW	17	47875871	missense	unknown
R1969:Foxp4	UTSW	17	47875871	missense	unknown
R1970:Foxp4	UTSW	17	47875871	missense	unknown
R1971:Foxp4	UTSW	17	47875871	missense	unknown
R2240:Foxp4	UTSW	17	47871276	missense	unknown
R3847:Foxp4	UTSW	17	47875528	missense	unknown
R3848:Foxp4	UTSW	17	47875528	missense	unknown
R3849:Foxp4	UTSW	17	47875528	missense	unknown
R4345:Foxp4	UTSW	17	47874648	missense	unknown
R5572:Foxp4	UTSW	17	47880879	missense	unknown
R5726:Foxp4	UTSW	17	47869108	missense	unknown
R6386:Foxp4	UTSW	17	47878462	missense	unknown
R6510:Foxp4	UTSW	17	47875410	missense	unknown
R8087:Foxp4	UTSW	17	47904430	missense	probably damaging	1.00
R8290:Foxp4	UTSW	17	47880853	missense	unknown
R9272:Foxp4	UTSW	17	47869108	missense	unknown
X0025:Foxp4	UTSW	17	47877965	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAGATAGGCTTCCTCCTCTGAC -3'
(R):5'- TGCTGGACCAGTAGTAGAGAC -3'

Sequencing Primer
(F):5'- TGACACCCCTGCTCTGGAG -3'
(R):5'- CAAAAGCTGGGCCCAGG -3'

Posted On

2014-06-23