Mutagenetix > Incidental Mutation

Incidental Mutation 'R5435:Foxf1'

428266

Institutional Source

Beutler Lab

Gene Symbol

Foxf1

Ensembl Gene

ENSMUSG00000042812

Gene Name

forkhead box F1

Synonyms

Foxf1a, HFH-8, Freac-1, Foxf1, Hfh8, FREAC1

MMRRC Submission

043000-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5435 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

121811125-121814883 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121811231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 32 (G32S)

Ref Sequence

ENSEMBL: ENSMUSP00000137662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127664] [ENSMUST00000181504]

AlphaFold

Q61080

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000181504
AA Change: G32S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137662
Gene: ENSMUSG00000042812
AA Change: G32S

Domain	Start	End	E-Value	Type
low complexity region	12	42	N/A	INTRINSIC
FH	46	136	6.02e-59	SMART
low complexity region	137	146	N/A	INTRINSIC
low complexity region	217	230	N/A	INTRINSIC
low complexity region	263	276	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184096

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in mid-gestation lethality, defects in extraembryonic and lateral plate mesoderm differentiation, failure of embryo turning, absence of yolk sac and allantois vasculogenesis, retarded somite and posterior embryo development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,413 (GRCm39)	F851L	probably benign	Het
Abca17	C	T	17: 24,486,588 (GRCm39)	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,523,153 (GRCm39)	Y491*	probably null	Het
Acsf3	T	A	8: 123,507,020 (GRCm39)	N104K	probably damaging	Het
Adam23	T	C	1: 63,585,612 (GRCm39)	Y400H	possibly damaging	Het
Adgra3	G	A	5: 50,147,468 (GRCm39)	T524M	probably damaging	Het
Aff1	G	A	5: 103,902,198 (GRCm39)		probably benign	Het
Anxa9	T	C	3: 95,204,561 (GRCm39)	Y321C	probably damaging	Het
Ap1g1	T	A	8: 110,565,552 (GRCm39)	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,741,783 (GRCm39)	I33N	possibly damaging	Het
B3galnt2	A	G	13: 14,171,575 (GRCm39)	E491G	probably benign	Het
Bdh1	C	T	16: 31,275,475 (GRCm39)	R235C	probably damaging	Het
Ccar2	A	G	14: 70,376,776 (GRCm39)	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519 (GRCm39)	D30V	probably damaging	Het
Ccdc116	G	T	16: 16,960,626 (GRCm39)	H64N	probably benign	Het
Ccl12	T	C	11: 81,994,001 (GRCm39)	I86T	possibly damaging	Het
Col2a1	T	C	15: 97,898,391 (GRCm39)		probably benign	Het
Col4a4	T	A	1: 82,431,728 (GRCm39)	I1519F	unknown	Het
Ddx19b	T	C	8: 111,735,458 (GRCm39)	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,037,121 (GRCm39)	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,463,807 (GRCm39)	I119F	probably damaging	Het
Ensa	C	A	3: 95,529,769 (GRCm39)		probably benign	Het
Fbxo4	C	T	15: 3,995,274 (GRCm39)	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gls2	G	A	10: 128,030,995 (GRCm39)		probably benign	Het
Gm13599	T	A	2: 67,226,496 (GRCm39)		noncoding transcript	Het
Gmnn	A	G	13: 24,936,084 (GRCm39)	S197P	probably benign	Het
Guf1	A	T	5: 69,720,512 (GRCm39)	H324L	probably benign	Het
H2-Q6	A	G	17: 35,644,661 (GRCm39)	D150G	probably damaging	Het
Herc3	T	A	6: 58,832,791 (GRCm39)	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,797,682 (GRCm39)	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,561,283 (GRCm39)	F46L	probably benign	Het
Kank1	T	G	19: 25,388,507 (GRCm39)	S727A	probably benign	Het
Kcnma1	A	T	14: 23,578,472 (GRCm39)	Y201*	probably null	Het
Lyst	A	T	13: 13,951,649 (GRCm39)	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,615,447 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,201,724 (GRCm39)		probably benign	Het
Myh9	C	T	15: 77,653,809 (GRCm39)	V1280I	probably benign	Het
Neto1	A	T	18: 86,416,388 (GRCm39)	T32S	probably benign	Het
Nol7	C	A	13: 43,554,848 (GRCm39)	H187Q	possibly damaging	Het
Or5ak22	T	A	2: 85,230,814 (GRCm39)	N21I	probably benign	Het
Pcdha8	A	G	18: 37,126,652 (GRCm39)	D378G	probably damaging	Het
Peak1	A	G	9: 56,113,770 (GRCm39)	S694P	probably damaging	Het
Pih1d1	T	A	7: 44,805,696 (GRCm39)		probably null	Het
Pik3c2g	T	G	6: 139,661,581 (GRCm39)		probably null	Het
Prkar2a	A	G	9: 108,617,682 (GRCm39)	R247G	probably damaging	Het
Psg26	A	G	7: 18,212,398 (GRCm39)	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,681,811 (GRCm39)	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,422,013 (GRCm39)	H304Q	probably damaging	Het
Relch	T	A	1: 105,668,975 (GRCm39)		probably benign	Het
Scn1a	T	A	2: 66,103,878 (GRCm39)	E1783V	probably damaging	Het
Stag1	A	G	9: 100,835,603 (GRCm39)	N151S	probably benign	Het
Tbc1d32	C	A	10: 55,916,246 (GRCm39)	A1191S	probably damaging	Het
Tchh	C	A	3: 93,350,979 (GRCm39)	R140S	possibly damaging	Het
Trank1	A	G	9: 111,220,958 (GRCm39)	Y2565C	probably benign	Het
Ttn	A	T	2: 76,744,702 (GRCm39)	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,575,985 (GRCm39)	P893S	possibly damaging	Het
Wdfy4	A	G	14: 32,742,268 (GRCm39)	F2325S	probably damaging	Het
Wdr35	A	G	12: 9,039,951 (GRCm39)	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Ypel3	A	G	7: 126,374,960 (GRCm39)		probably benign	Het
Zan	T	A	5: 137,402,024 (GRCm39)	T4023S	unknown	Het
Zfp735	T	A	11: 73,602,939 (GRCm39)	C628S	possibly damaging	Het

Other mutations in Foxf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Foxf1	APN	8	121,812,084 (GRCm39)	missense	probably damaging	0.99
IGL02113:Foxf1	APN	8	121,811,304 (GRCm39)	missense	probably damaging	1.00
IGL03167:Foxf1	APN	8	121,811,647 (GRCm39)	nonsense	probably null
R0359:Foxf1	UTSW	8	121,811,742 (GRCm39)	missense	possibly damaging	0.69
R0621:Foxf1	UTSW	8	121,811,919 (GRCm39)	missense	probably damaging	0.98
R1523:Foxf1	UTSW	8	121,811,297 (GRCm39)	splice site	probably null
R4854:Foxf1	UTSW	8	121,813,553 (GRCm39)	missense	probably benign
R6423:Foxf1	UTSW	8	121,811,834 (GRCm39)	missense	possibly damaging	0.90
R7582:Foxf1	UTSW	8	121,811,430 (GRCm39)	missense	possibly damaging	0.94
R7853:Foxf1	UTSW	8	121,811,438 (GRCm39)	missense	probably damaging	0.99
R8095:Foxf1	UTSW	8	121,813,551 (GRCm39)	missense	probably benign	0.01
R8168:Foxf1	UTSW	8	121,811,901 (GRCm39)	missense	probably damaging	0.98
R8841:Foxf1	UTSW	8	121,811,919 (GRCm39)	missense	probably damaging	0.98
R9232:Foxf1	UTSW	8	121,811,715 (GRCm39)	missense	possibly damaging	0.95
Z1176:Foxf1	UTSW	8	121,811,268 (GRCm39)	missense	probably damaging	0.99
Z1177:Foxf1	UTSW	8	121,811,174 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCCCACTGAATAGCTACGG -3'
(R):5'- AAGCACTCGTTGAGCGACAG -3'

Sequencing Primer
(F):5'- CCACTGAATAGCTACGGGGGATC -3'
(R):5'- TGGCGCACGGAGTTCTTC -3'

Posted On

2016-09-01