Mutagenetix > Incidental Mutation

Incidental Mutation 'R5572:Foxp4'

435753

Institutional Source

Beutler Lab

Gene Symbol

Foxp4

Ensembl Gene

ENSMUSG00000023991

Gene Name

forkhead box P4

Synonyms

2310007G05Rik, 1200010K03Rik

MMRRC Submission

043266-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

R5572 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

48178058-48235401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48191804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 111 (V111A)

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

unknown
Transcript: ENSMUST00000097311
AA Change: V111A

SMART Domains

Protein: ENSMUSP00000094916
Gene: ENSMUSG00000023991
AA Change: V111A

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

unknown
Transcript: ENSMUST00000113262
AA Change: V111A

SMART Domains

Protein: ENSMUSP00000108887
Gene: ENSMUSG00000023991
AA Change: V111A

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

unknown
Transcript: ENSMUST00000113263
AA Change: V111A

SMART Domains

Protein: ENSMUSP00000108888
Gene: ENSMUSG00000023991
AA Change: V111A

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

unknown
Transcript: ENSMUST00000113265
AA Change: V111A

SMART Domains

Protein: ENSMUSP00000108890
Gene: ENSMUSG00000023991
AA Change: V111A

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

Meta Mutation Damage Score

0.0906

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (64/64)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,765,108 (GRCm39)		probably null	Het
Abcd4	T	C	12: 84,653,050 (GRCm39)	D380G	probably benign	Het
Actr3b	T	A	5: 26,014,886 (GRCm39)	D68E	probably benign	Het
Apol10a	T	C	15: 77,372,834 (GRCm39)	S157P	probably damaging	Het
Arap3	A	T	18: 38,124,119 (GRCm39)	I327N	probably damaging	Het
Arnt	G	T	3: 95,382,015 (GRCm39)	V198L	possibly damaging	Het
Baiap3	T	A	17: 25,470,449 (GRCm39)	D86V	possibly damaging	Het
Bcl9l	G	T	9: 44,412,095 (GRCm39)	R27L	possibly damaging	Het
Bltp2	A	T	11: 78,155,393 (GRCm39)	D167V	probably damaging	Het
C1qc	T	C	4: 136,619,773 (GRCm39)	Y34C	probably benign	Het
C1rb	T	C	6: 124,557,758 (GRCm39)	S632P	probably benign	Het
C3	A	G	17: 57,531,673 (GRCm39)	S284P	probably damaging	Het
Cfap44	T	G	16: 44,301,668 (GRCm39)	V1802G	possibly damaging	Het
Cfhr1	A	G	1: 139,484,165 (GRCm39)	V117A	possibly damaging	Het
Clca3b	T	C	3: 144,533,070 (GRCm39)	D654G	probably damaging	Het
Col17a1	A	T	19: 47,639,168 (GRCm39)	S1126T	probably benign	Het
Cts3	T	A	13: 61,712,782 (GRCm39)	I313F	probably damaging	Het
Egfl7	T	C	2: 26,481,703 (GRCm39)	V6A	possibly damaging	Het
Eif2s3y	G	A	Y: 1,016,631 (GRCm39)	D272N	probably damaging	Het
Hmcn2	A	T	2: 31,304,537 (GRCm39)		probably null	Het
Hmcn2	G	A	2: 31,304,538 (GRCm39)		probably null	Het
Igsf11	C	T	16: 38,845,294 (GRCm39)	R283C	probably damaging	Het
Il1a	A	G	2: 129,149,838 (GRCm39)	Y21H	possibly damaging	Het
Il6ra	A	T	3: 89,778,589 (GRCm39)	V420D	probably damaging	Het
Kdm5a	T	C	6: 120,389,336 (GRCm39)	V921A	possibly damaging	Het
Kirrel3	G	A	9: 34,912,244 (GRCm39)	A196T	probably damaging	Het
Klra1	T	A	6: 130,349,802 (GRCm39)	D212V	possibly damaging	Het
N4bp2l2	G	A	5: 150,585,755 (GRCm39)	T75I	probably benign	Het
Niban1	T	C	1: 151,584,941 (GRCm39)	S513P	probably benign	Het
Nnmt	A	G	9: 48,503,447 (GRCm39)	L193P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Ntm	A	G	9: 28,925,512 (GRCm39)	I191T	probably damaging	Het
Or2ak5	A	G	11: 58,611,055 (GRCm39)	V273A	probably benign	Het
Or52d13	A	C	7: 103,109,905 (GRCm39)	L170R	probably benign	Het
Or52h7	A	T	7: 104,214,201 (GRCm39)	T258S	probably benign	Het
Pam	A	C	1: 97,782,469 (GRCm39)		probably benign	Het
Pomk	T	A	8: 26,473,218 (GRCm39)	H245L	possibly damaging	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rasip1	G	T	7: 45,286,153 (GRCm39)	R792L	probably benign	Het
Ret	T	C	6: 118,132,392 (GRCm39)	Y1016C	probably damaging	Het
Rhbdd1	A	T	1: 82,318,531 (GRCm39)	N138I	possibly damaging	Het
Snx13	T	G	12: 35,153,119 (GRCm39)	V383G	probably damaging	Het
Syt3	A	G	7: 44,040,142 (GRCm39)	H125R	probably benign	Het
Tlr6	A	T	5: 65,112,361 (GRCm39)	L182Q	probably damaging	Het
Tlr9	T	C	9: 106,102,836 (GRCm39)	V709A	possibly damaging	Het
Tmprss6	T	C	15: 78,326,622 (GRCm39)	Y655C	probably damaging	Het
Ttn	A	T	2: 76,683,972 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,938,525 (GRCm39)	I761T	probably damaging	Het
Ube3b	G	A	5: 114,544,240 (GRCm39)	D546N	probably damaging	Het
Ugt2b36	A	G	5: 87,237,341 (GRCm39)	V188A	possibly damaging	Het
Usp29	A	G	7: 6,965,191 (GRCm39)	I345V	probably benign	Het
Vmn2r78	A	G	7: 86,564,720 (GRCm39)	K55R	probably benign	Het
Wdsub1	A	G	2: 59,693,051 (GRCm39)	F288L	possibly damaging	Het
Zan	C	T	5: 137,392,693 (GRCm39)	V4601M	unknown	Het
Zbtb8b	T	C	4: 129,322,334 (GRCm39)	K376E	probably damaging	Het
Zfp619	A	T	7: 39,184,663 (GRCm39)	Y231F	probably benign	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
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
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'- TTTCTGCCACAGCCTAGGTC -3'
(R):5'- TCAATATGTCCAGAGCCAAAGC -3'

Sequencing Primer
(F):5'- ACAGCCTAGGTCCTCAGTGAG -3'
(R):5'- TATAGAGGCATAGACCTGTGATCCC -3'

Posted On

2016-10-24