Mutagenetix > Incidental Mutation

Incidental Mutation 'R5874:Foxf2'

455409

Institutional Source

Beutler Lab

Gene Symbol

Foxf2

Ensembl Gene

ENSMUSG00000038402

Gene Name

forkhead box F2

Synonyms

FREAC2, LUN, Fkh20

MMRRC Submission

044081-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5874 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

31809799-31815386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31810775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 238 (H238R)

Ref Sequence

ENSEMBL: ENSMUSP00000046789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042054]

AlphaFold

O54743

Predicted Effect

probably benign
Transcript: ENSMUST00000042054
AA Change: H238R

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000046789
Gene: ENSMUSG00000038402
AA Change: H238R

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
low complexity region	45	94	N/A	INTRINSIC
FH	98	188	6.02e-59	SMART
low complexity region	189	198	N/A	INTRINSIC
low complexity region	236	245	N/A	INTRINSIC
low complexity region	256	275	N/A	INTRINSIC
low complexity region	289	328	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221582

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice do not live through the first day of life due to an inability to suckle, which is secondary to cleft palate and tongue abnormalities. Mice homozygous for an ENU mutation exhibit postnatal lethality without palate defect and abnormal anterior segment dysgenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	A	7: 29,280,610 (GRCm39)		noncoding transcript	Het
Adam17	T	C	12: 21,379,087 (GRCm39)	D654G	possibly damaging	Het
Ankhd1	A	T	18: 36,773,322 (GRCm39)	H1373L	possibly damaging	Het
Ankrd17	T	C	5: 90,416,656 (GRCm39)		probably benign	Het
Calu	A	G	6: 29,372,617 (GRCm39)	D112G	probably damaging	Het
Camk2a	G	C	18: 61,076,272 (GRCm39)		probably benign	Het
Cpn1	C	A	19: 43,944,951 (GRCm39)	R452L	probably benign	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cuedc2	C	T	19: 46,319,824 (GRCm39)	V164M	possibly damaging	Het
Cyp2d34	T	A	15: 82,503,243 (GRCm39)	D74V	probably benign	Het
Ddi2	A	G	4: 141,422,780 (GRCm39)	S311P	probably damaging	Het
Ddx10	A	C	9: 53,140,498 (GRCm39)	I301R	possibly damaging	Het
Dmpk	T	C	7: 18,826,007 (GRCm39)		probably benign	Het
Dnah7b	C	T	1: 46,230,885 (GRCm39)	T1381I	probably damaging	Het
Dst	T	A	1: 34,218,670 (GRCm39)	N1703K	probably damaging	Het
Dtwd1	T	A	2: 126,000,359 (GRCm39)	H98Q	probably damaging	Het
Ecel1	A	C	1: 87,075,731 (GRCm39)	V769G	probably benign	Het
Eno4	T	C	19: 58,935,238 (GRCm39)	V150A	probably benign	Het
Evc2	C	T	5: 37,574,883 (GRCm39)		probably benign	Het
Ext1	T	A	15: 52,965,148 (GRCm39)	Q406L	possibly damaging	Het
Frem2	C	G	3: 53,444,910 (GRCm39)	G2407A	probably benign	Het
Fzd10	A	G	5: 128,678,364 (GRCm39)	E28G	probably benign	Het
Galnt15	T	C	14: 31,774,324 (GRCm39)	F363L	probably damaging	Het
Gm1758	C	T	16: 14,325,037 (GRCm39)		noncoding transcript	Het
Gm5866	C	T	5: 52,739,956 (GRCm39)		noncoding transcript	Het
Heatr9	T	A	11: 83,405,426 (GRCm39)	M345L	probably benign	Het
Il23r	A	T	6: 67,408,629 (GRCm39)	F404Y	possibly damaging	Het
Lrrc8a	T	C	2: 30,147,148 (GRCm39)	I654T	probably damaging	Het
Napg	A	T	18: 63,111,091 (GRCm39)	K18*	probably null	Het
Ndst3	A	T	3: 123,355,556 (GRCm39)	W573R	probably damaging	Het
Nin	T	C	12: 70,077,692 (GRCm39)	S1038G	possibly damaging	Het
Nudt12	T	A	17: 59,317,279 (GRCm39)	R123*	probably null	Het
Oas1g	T	A	5: 121,015,081 (GRCm39)	N361Y	probably benign	Het
Or5p51	T	A	7: 107,444,377 (GRCm39)	I188L	probably benign	Het
Or7a35	T	A	10: 78,853,191 (GRCm39)	F12I	possibly damaging	Het
Or8h10	A	T	2: 86,808,786 (GRCm39)	M118K	probably damaging	Het
Osbpl10	T	C	9: 115,055,828 (GRCm39)	F667L	probably damaging	Het
Phldb2	T	C	16: 45,621,988 (GRCm39)	D664G	probably damaging	Het
Piezo2	C	T	18: 63,160,972 (GRCm39)	V2263M	probably damaging	Het
Pkd1l1	A	G	11: 8,858,688 (GRCm39)	L615P	probably damaging	Het
Pnpla7	G	A	2: 24,901,661 (GRCm39)	M562I	probably benign	Het
Pou2af2	A	T	9: 51,201,672 (GRCm39)	L128*	probably null	Het
Ppp1r13b	C	A	12: 111,811,423 (GRCm39)	R155L	probably damaging	Het
Pygb	C	T	2: 150,628,798 (GRCm39)	P4L	probably benign	Het
Rbm44	T	C	1: 91,084,562 (GRCm39)		probably null	Het
Rilpl2	T	C	5: 124,607,876 (GRCm39)	T115A	probably benign	Het
Rin3	A	G	12: 102,356,102 (GRCm39)	Y801C	probably damaging	Het
Rnf112	A	G	11: 61,340,273 (GRCm39)	V619A	probably damaging	Het
Rnf182	A	G	13: 43,821,563 (GRCm39)	E38G	probably benign	Het
Scgb2b24	T	A	7: 33,436,830 (GRCm39)	Y94F	probably damaging	Het
Serac1	C	A	17: 6,094,188 (GRCm39)		probably benign	Het
Shld2	T	C	14: 33,967,215 (GRCm39)	T114A	probably benign	Het
Slc6a19	A	T	13: 73,832,487 (GRCm39)	V402D	probably damaging	Het
Slco1a8	A	T	6: 141,917,961 (GRCm39)	H638Q	probably benign	Het
Slco2b1	T	A	7: 99,316,301 (GRCm39)	M410L	probably benign	Het
Smarca2	T	C	19: 26,753,469 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,193,067 (GRCm39)	Y409C	probably damaging	Het
Sorcs2	A	G	5: 36,386,555 (GRCm39)	V161A	probably damaging	Het
Spring1	T	C	5: 118,397,504 (GRCm39)	V162A	probably damaging	Het
Sptb	T	C	12: 76,645,501 (GRCm39)	E2029G	possibly damaging	Het
Stx7	T	A	10: 24,058,659 (GRCm39)		probably null	Het
Taf4b	T	C	18: 14,937,611 (GRCm39)	V228A	probably benign	Het
Tbc1d1	A	G	5: 64,507,273 (GRCm39)	*1163W	probably null	Het
Tor4a	G	A	2: 25,084,847 (GRCm39)	A352V	probably damaging	Het
Trpm4	A	G	7: 44,977,173 (GRCm39)	F81S	probably damaging	Het
Ttn	T	A	2: 76,780,436 (GRCm39)	D1105V	probably damaging	Het
Vcf1	T	A	11: 113,568,220 (GRCm39)	R78S	probably damaging	Het
Yju2b	T	A	8: 84,985,177 (GRCm39)	D364V	possibly damaging	Het
Zfp551	A	G	7: 12,150,101 (GRCm39)	L436P	probably damaging	Het
Zfp975	G	T	7: 42,312,312 (GRCm39)	D100E	probably benign	Het
Zswim3	A	G	2: 164,662,032 (GRCm39)	I171V	probably benign	Het
Zwint	C	T	10: 72,492,294 (GRCm39)		probably benign	Het

Other mutations in Foxf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Foxf2	APN	13	31,810,172 (GRCm39)	missense	unknown
IGL01939:Foxf2	APN	13	31,810,697 (GRCm39)	missense	probably damaging	0.97
IGL02012:Foxf2	APN	13	31,810,499 (GRCm39)	missense	probably damaging	0.98
IGL02647:Foxf2	APN	13	31,811,218 (GRCm39)	missense	probably damaging	0.99
IGL03275:Foxf2	APN	13	31,810,514 (GRCm39)	missense	probably damaging	0.99
R0517:Foxf2	UTSW	13	31,810,226 (GRCm39)	missense	unknown
R0812:Foxf2	UTSW	13	31,811,188 (GRCm39)	missense	probably damaging	0.97
R2005:Foxf2	UTSW	13	31,810,124 (GRCm39)	missense	unknown
R2090:Foxf2	UTSW	13	31,810,824 (GRCm39)	missense	probably benign	0.23
R3724:Foxf2	UTSW	13	31,814,513 (GRCm39)	missense	probably damaging	1.00
R4627:Foxf2	UTSW	13	31,810,871 (GRCm39)	missense	probably benign	0.40
R4757:Foxf2	UTSW	13	31,810,172 (GRCm39)	missense	unknown
R5049:Foxf2	UTSW	13	31,811,158 (GRCm39)	missense	probably benign
R5303:Foxf2	UTSW	13	31,810,463 (GRCm39)	missense	possibly damaging	0.88
R6983:Foxf2	UTSW	13	31,811,180 (GRCm39)	missense	probably benign	0.35
R7309:Foxf2	UTSW	13	31,810,496 (GRCm39)	missense	probably damaging	0.98
R7635:Foxf2	UTSW	13	31,810,087 (GRCm39)	missense	unknown
R7773:Foxf2	UTSW	13	31,811,182 (GRCm39)	missense	probably benign	0.00
R8266:Foxf2	UTSW	13	31,810,361 (GRCm39)	small insertion	probably benign
R9033:Foxf2	UTSW	13	31,810,085 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CGGCCAGCGAATTCATGTTTG -3'
(R):5'- TGACACTCAATGGCGCTTGC -3'

Sequencing Primer
(F):5'- CCAGCGAATTCATGTTTGAGGAG -3'
(R):5'- TTGCCATAGCCGGGGATGAG -3'

Posted On

2017-02-10