Mutagenetix > Incidental Mutation

Incidental Mutation 'R1845:Foxp4'

207689

Institutional Source

Beutler Lab

Gene Symbol

Foxp4

Ensembl Gene

ENSMUSG00000023991

Gene Name

forkhead box P4

Synonyms

2310007G05Rik, 1200010K03Rik

MMRRC Submission

039870-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R1845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48178058-48235401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48188884 bp (GRCm39)

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
1110038F14Rik	CGGG	CGGGGGG	15: 76,833,863 (GRCm39)		probably benign	Het
Abca17	A	T	17: 24,486,690 (GRCm39)	C1446S	probably damaging	Het
Asb16	C	A	11: 102,167,582 (GRCm39)	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,204,114 (GRCm39)	V384I	possibly damaging	Het
BC024139	A	T	15: 76,009,461 (GRCm39)	L207*	probably null	Het
Bcl3	T	G	7: 19,543,552 (GRCm39)	S305R	probably damaging	Het
Cachd1	T	C	4: 100,634,555 (GRCm39)	V77A	probably benign	Het
Cd101	C	T	3: 100,936,764 (GRCm39)		probably null	Het
Cela1	T	C	15: 100,583,048 (GRCm39)	N64S	probably benign	Het
Cep128	T	C	12: 91,256,372 (GRCm39)	D366G	probably benign	Het
Col12a1	A	G	9: 79,604,823 (GRCm39)	V675A	probably benign	Het
Copg1	A	G	6: 87,870,800 (GRCm39)	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,329,837 (GRCm39)	R372G	probably benign	Het
Dcaf1	A	C	9: 106,729,161 (GRCm39)	I567L	probably benign	Het
Dcn	A	G	10: 97,342,536 (GRCm39)	D164G	probably benign	Het
Dnase2a	T	A	8: 85,635,951 (GRCm39)	H113Q	probably benign	Het
Espl1	T	C	15: 102,207,448 (GRCm39)	V304A	probably benign	Het
Fam193a	A	G	5: 34,600,716 (GRCm39)	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,983,685 (GRCm39)		probably null	Het
Fut10	A	G	8: 31,726,328 (GRCm39)	N361S	probably damaging	Het
Gyg1	A	T	3: 20,205,286 (GRCm39)	V94D	probably damaging	Het
Has2	T	C	15: 56,531,974 (GRCm39)	K247R	probably damaging	Het
Helz2	G	T	2: 180,873,878 (GRCm39)	D2205E	probably benign	Het
Hps6	T	A	19: 45,993,409 (GRCm39)	S449T	probably benign	Het
Ints10	T	C	8: 69,247,323 (GRCm39)	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,177,331 (GRCm39)	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,231,548 (GRCm39)	V280A	possibly damaging	Het
Klk1b5	A	G	7: 43,869,549 (GRCm39)	M210V	probably benign	Het
Kmt2c	G	A	5: 25,578,434 (GRCm39)	A614V	probably benign	Het
Lck	T	A	4: 129,451,879 (GRCm39)	I45F	probably benign	Het
Lin7a	A	C	10: 107,247,920 (GRCm39)	E75A	probably damaging	Het
Lrp1	A	T	10: 127,414,542 (GRCm39)	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 25,133,557 (GRCm39)	N289K	probably benign	Het
Mbtps1	T	C	8: 120,249,232 (GRCm39)	D686G	probably benign	Het
Mknk1	T	A	4: 115,730,428 (GRCm39)	C178*	probably null	Het
Mtmr6	A	G	14: 60,534,184 (GRCm39)	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,730,169 (GRCm39)		probably null	Het
Myh6	T	C	14: 55,182,131 (GRCm39)	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,678,746 (GRCm39)	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,526,248 (GRCm39)	F30S	probably damaging	Het
Nop14	G	T	5: 34,807,672 (GRCm39)	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or1j18	A	T	2: 36,624,854 (GRCm39)	I174F	probably damaging	Het
Or4c107	A	G	2: 88,789,211 (GRCm39)	I134V	probably damaging	Het
Or4c108	A	G	2: 88,803,482 (GRCm39)	V251A	probably benign	Het
Or6c205	A	G	10: 129,086,463 (GRCm39)	E20G	probably benign	Het
Or6c88	A	T	10: 129,407,217 (GRCm39)	Q231L	probably damaging	Het
Or7g17	A	T	9: 18,768,782 (GRCm39)	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 96,949,954 (GRCm39)	S378R	probably damaging	Het
Otof	A	T	5: 30,529,067 (GRCm39)	Y1775*	probably null	Het
Parp16	T	C	9: 65,122,876 (GRCm39)	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pi16	A	T	17: 29,538,361 (GRCm39)	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,238,877 (GRCm39)	M190I	probably benign	Het
Plscr4	T	G	9: 92,372,099 (GRCm39)	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,651,531 (GRCm39)	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,102,536 (GRCm39)	L15Q	probably damaging	Het
Prorp	T	A	12: 55,351,117 (GRCm39)	I142N	possibly damaging	Het
Ptpn14	C	A	1: 189,571,699 (GRCm39)	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,862,182 (GRCm39)	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,224,381 (GRCm39)	Y342*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sltm	A	G	9: 70,450,314 (GRCm39)	N38S	possibly damaging	Het
Smg1	T	C	7: 117,753,845 (GRCm39)		probably benign	Het
Spsb1	A	T	4: 149,991,367 (GRCm39)	V67E	probably damaging	Het
Suox	A	G	10: 128,506,408 (GRCm39)	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,899,529 (GRCm39)	I483N	probably damaging	Het
Tbcb	A	T	7: 29,923,924 (GRCm39)	D198E	possibly damaging	Het
Tbce	T	C	13: 14,194,294 (GRCm39)	K122E	probably benign	Het
Tcap	T	A	11: 98,275,205 (GRCm39)	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,040 (GRCm39)	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,421,277 (GRCm39)	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,498,180 (GRCm39)	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,342,651 (GRCm39)	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,286,468 (GRCm39)	W1103R	probably damaging	Het
Ttn	C	T	2: 76,594,377 (GRCm39)	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,703,564 (GRCm39)	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,457,553 (GRCm39)	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,149,861 (GRCm39)	Y394*	probably null	Het
Zfp212	T	C	6: 47,908,475 (GRCm39)	S485P	probably benign	Het
Zfp512b	A	T	2: 181,227,528 (GRCm39)	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,829,084 (GRCm39)	Y974H	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
R1494:Foxp4	UTSW	17	48,191,278 (GRCm39)	splice site	probably benign
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'- GAGATAGGCTTCCTCCTCTGAC -3'
(R):5'- TGCTGGACCAGTAGTAGAGAC -3'

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

Posted On

2014-06-23