Mutagenetix > Incidental Mutation

Incidental Mutation 'R6983:Foxf2'

542807

Institutional Source

Beutler Lab

Gene Symbol

Foxf2

Ensembl Gene

ENSMUSG00000038402

Gene Name

forkhead box F2

Synonyms

FREAC2, LUN, Fkh20

MMRRC Submission

045090-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31809799-31815386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31811180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 373 (M373K)

Ref Sequence

ENSEMBL: ENSMUSP00000046789 (fasta)

Gene Model

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

AlphaFold

O54743

Predicted Effect

probably benign
Transcript: ENSMUST00000042054
AA Change: M373K

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046789
Gene: ENSMUSG00000038402
AA Change: M373K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,953,686 (GRCm39)	V530A	probably benign	Het
Adgrg6	T	C	10: 14,307,439 (GRCm39)	N816D	probably damaging	Het
Aebp2	T	C	6: 140,583,389 (GRCm39)	F288L	possibly damaging	Het
Afdn	T	C	17: 14,101,583 (GRCm39)	S1024P	probably damaging	Het
Akap6	A	C	12: 52,934,436 (GRCm39)	K643Q	probably damaging	Het
Atg2a	A	T	19: 6,310,070 (GRCm39)	D1751V	probably damaging	Het
Best2	T	A	8: 85,736,405 (GRCm39)	I253F	probably benign	Het
Bmp1	G	T	14: 70,745,647 (GRCm39)	P55T	probably damaging	Het
C1s1	C	A	6: 124,517,855 (GRCm39)	V42F	possibly damaging	Het
Ccdc115	A	G	1: 34,478,122 (GRCm39)		probably null	Het
Cdc42bpg	C	T	19: 6,371,698 (GRCm39)	P1326S	probably damaging	Het
Cdhr3	G	A	12: 33,092,379 (GRCm39)	T744I	probably benign	Het
Cit	T	G	5: 116,132,150 (GRCm39)	L1745R	probably damaging	Het
Commd6	A	T	14: 101,874,488 (GRCm39)	S39T	probably damaging	Het
Crot	T	G	5: 9,028,280 (GRCm39)	Y223S	probably benign	Het
Crybg1	G	T	10: 43,875,338 (GRCm39)	A590D	probably damaging	Het
Cwf19l2	G	A	9: 3,477,817 (GRCm39)	E841K	probably damaging	Het
Dennd4c	T	C	4: 86,717,730 (GRCm39)	Y576H	probably damaging	Het
Diaph1	A	T	18: 38,022,822 (GRCm39)	V749E	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
F5	A	T	1: 164,021,698 (GRCm39)	D1391V	probably damaging	Het
Fstl1	A	T	16: 37,651,980 (GRCm39)	E287D	probably benign	Het
Gltpd2	T	C	11: 70,411,110 (GRCm39)	Y134H	probably damaging	Het
Hemgn	T	A	4: 46,395,997 (GRCm39)	H413L	possibly damaging	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Hykk	T	C	9: 54,853,793 (GRCm39)	S372P	probably benign	Het
Inava	A	G	1: 136,147,894 (GRCm39)	S353P	possibly damaging	Het
Ints10	T	C	8: 69,246,703 (GRCm39)	V11A	probably damaging	Het
Khdrbs1	A	G	4: 129,614,635 (GRCm39)	V306A	probably benign	Het
Lamtor2	G	A	3: 88,460,146 (GRCm39)	Q9*	probably null	Het
Lonp2	T	A	8: 87,350,876 (GRCm39)	V22E	probably damaging	Het
Mad1l1	T	C	5: 140,179,739 (GRCm39)	E383G	probably damaging	Het
Man2b1	T	A	8: 85,817,700 (GRCm39)		probably null	Het
Mtch1	T	C	17: 29,557,750 (GRCm39)	I243V	probably damaging	Het
Myo18a	T	A	11: 77,736,341 (GRCm39)	M1546K	probably benign	Het
Ntf3	T	C	6: 126,078,808 (GRCm39)	T233A	probably damaging	Het
Omg	T	C	11: 79,392,764 (GRCm39)	S365G	probably benign	Het
Or52ad1	C	T	7: 102,996,022 (GRCm39)	V38I	probably benign	Het
Otol1	T	A	3: 69,935,374 (GRCm39)	N455K	probably damaging	Het
Pakap	T	A	4: 57,709,973 (GRCm39)	V306D	probably damaging	Het
Pde4dip	A	T	3: 97,625,552 (GRCm39)	Y1349N	probably damaging	Het
Pitpnm2	A	G	5: 124,271,469 (GRCm39)	L368P	probably damaging	Het
Pnpla8	T	A	12: 44,330,030 (GRCm39)	I194K	possibly damaging	Het
Podn	T	C	4: 107,881,470 (GRCm39)		probably null	Het
Potefam1	A	G	2: 111,058,595 (GRCm39)		probably null	Het
Pramel6	A	T	2: 87,339,923 (GRCm39)	E229V	possibly damaging	Het
Ptpro	C	T	6: 137,426,915 (GRCm39)	P262L	probably damaging	Het
Rnf122	A	T	8: 31,608,488 (GRCm39)	T19S	probably benign	Het
Shank2	T	A	7: 143,635,585 (GRCm39)	Y320N	possibly damaging	Het
Slc2a9	A	C	5: 38,549,064 (GRCm39)	I243S	probably damaging	Het
Slc5a6	A	T	5: 31,197,749 (GRCm39)	M130K	probably benign	Het
Stx5a	A	G	19: 8,732,533 (GRCm39)		probably benign	Het
Tbr1	G	T	2: 61,642,079 (GRCm39)	G185V	probably damaging	Het
Tg	A	G	15: 66,565,207 (GRCm39)	D1183G	probably benign	Het
Thbs1	A	T	2: 117,950,433 (GRCm39)	I689F	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trub2	A	T	2: 29,677,796 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,597,306 (GRCm39)	V19869A	probably damaging	Het
Tufm	T	C	7: 126,088,607 (GRCm39)	V303A	possibly damaging	Het
Vezf1	T	C	11: 87,964,145 (GRCm39)	I99T	possibly damaging	Het
Vmn2r1	T	C	3: 63,989,118 (GRCm39)	V19A	probably benign	Het
Xpc	C	T	6: 91,481,005 (GRCm39)	R289K	probably damaging	Het
Zfp811	T	A	17: 33,016,406 (GRCm39)	K545*	probably null	Het
Zmiz2	G	A	11: 6,352,413 (GRCm39)	D623N	probably damaging	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
R5874:Foxf2	UTSW	13	31,810,775 (GRCm39)	missense	probably benign	0.05
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'- TCCACCTATATGGCCAGCTG -3'
(R):5'- CTTCTCTCACTTAGGAATAGGGAAC -3'

Sequencing Primer
(F):5'- ACTATGGGCCGGACAGCAG -3'
(R):5'- GGAACCGAATCCCCACCC -3'

Posted On

2018-11-28