Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00227:Foxf2'

2169

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Foxf2

Ensembl Gene

ENSMUSG00000038402

Gene Name

forkhead box F2

Synonyms

FREAC2, LUN, Fkh20

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00227

Quality Score

Status

Chromosome

Chromosomal Location

31809799-31815386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31810172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 37 (P37Q)

Ref Sequence

ENSEMBL: ENSMUSP00000046789 (fasta)

Gene Model

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

AlphaFold

O54743

Predicted Effect

unknown
Transcript: ENSMUST00000042054
AA Change: P37Q

SMART Domains

Protein: ENSMUSP00000046789
Gene: ENSMUSG00000038402
AA Change: P37Q

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

Coding Region Coverage

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	A	17: 84,995,957 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,654,946 (GRCm39)	E2695G	probably damaging	Het
B3galnt2	A	G	13: 14,162,016 (GRCm39)	N246D	probably benign	Het
Ces1h	A	T	8: 94,079,098 (GRCm39)	M495K	unknown	Het
Chga	A	G	12: 102,529,058 (GRCm39)	E345G	probably damaging	Het
Chrnb3	T	C	8: 27,875,129 (GRCm39)	F43L	probably benign	Het
Ctu1	C	A	7: 43,324,928 (GRCm39)	F122L	possibly damaging	Het
Cwf19l2	C	A	9: 3,409,990 (GRCm39)	Q40K	probably benign	Het
Dlg2	T	C	7: 91,614,853 (GRCm39)	I264T	probably damaging	Het
Dnah1	C	T	14: 31,008,853 (GRCm39)	V1974M	probably damaging	Het
Gtf2e2	T	C	8: 34,266,473 (GRCm39)		probably benign	Het
Hectd3	C	A	4: 116,857,785 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,857,786 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,857,784 (GRCm39)		probably benign	Het
Ift122	A	T	6: 115,894,018 (GRCm39)	H901L	probably benign	Het
Itih1	C	T	14: 30,664,846 (GRCm39)		probably null	Het
Krt84	C	A	15: 101,436,208 (GRCm39)	M460I	probably benign	Het
Moxd1	C	T	10: 24,158,491 (GRCm39)	H382Y	probably damaging	Het
Npy6r	A	T	18: 44,409,511 (GRCm39)	T311S	probably damaging	Het
Or1p1	C	T	11: 74,179,952 (GRCm39)	T160I	probably damaging	Het
Or52n3	C	T	7: 104,530,724 (GRCm39)	T270I	probably benign	Het
Pbk	T	C	14: 66,051,340 (GRCm39)	I126T	probably damaging	Het
Pde1b	C	T	15: 103,435,107 (GRCm39)	S400F	probably damaging	Het
Plxna2	T	A	1: 194,326,965 (GRCm39)	C300S	probably damaging	Het
Pnpla6	C	T	8: 3,573,808 (GRCm39)	R419W	probably damaging	Het
Ppp4r3a	A	G	12: 101,016,053 (GRCm39)	L33P	probably damaging	Het
Ralb	T	A	1: 119,403,770 (GRCm39)	D119V	probably benign	Het
Relb	A	C	7: 19,356,849 (GRCm39)		probably null	Het
Rims1	T	A	1: 22,507,323 (GRCm39)	D609V	probably damaging	Het
Scnn1a	A	G	6: 125,315,342 (GRCm39)	T377A	probably benign	Het
Slc13a2	T	C	11: 78,291,374 (GRCm39)	T367A	probably damaging	Het
Sort1	T	C	3: 108,263,623 (GRCm39)	L807P	probably damaging	Het
Sptbn1	C	A	11: 30,060,818 (GRCm39)	E2051*	probably null	Het
St6galnac1	T	C	11: 116,658,532 (GRCm39)	I311V	probably damaging	Het

Other mutations in Foxf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5874:Foxf2	UTSW	13	31,810,775 (GRCm39)	missense	probably benign	0.05
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

Posted On

2011-12-09