Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02304:Foxs1'

287511

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Foxs1

Ensembl Gene

ENSMUSG00000074676

Gene Name

forkhead box S1

Synonyms

FREAC10, Fkh3, Fkhl18

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

IGL02304

Quality Score

Status

Chromosome

Chromosomal Location

152773818-152775128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152774270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 261 (D261G)

Ref Sequence

ENSEMBL: ENSMUSP00000096806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099200]

AlphaFold

Q61574

Predicted Effect

probably benign
Transcript: ENSMUST00000099200
AA Change: D261G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000096806
Gene: ENSMUSG00000074676
AA Change: D261G

Domain	Start	End	E-Value	Type
FH	16	106	1.88e-60	SMART
low complexity region	269	283	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for one reporter allele display enhanced rotarod performance and increased male resistance to diet-induced obesity. Homozygotes for another reporter allele show impaired testicular vasculature, including blood accumulation in fetal testis and marked apoptosis of periendothelial cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	G	T	18: 69,083,122 (GRCm39)	H31N	unknown	Het
Adamts8	A	G	9: 30,867,952 (GRCm39)	N592S	possibly damaging	Het
Atp1a2	C	A	1: 172,116,920 (GRCm39)	E232D	probably benign	Het
Cacnb3	A	T	15: 98,540,263 (GRCm39)	D323V	probably damaging	Het
Cdh9	A	T	15: 16,848,687 (GRCm39)	T456S	probably benign	Het
Cep162	A	T	9: 87,109,200 (GRCm39)		probably benign	Het
Clvs2	T	C	10: 33,404,443 (GRCm39)	M258V	probably benign	Het
Col6a5	T	C	9: 105,805,613 (GRCm39)	T1098A	unknown	Het
Gas2l2	T	C	11: 83,315,064 (GRCm39)		probably benign	Het
Gins4	A	T	8: 23,722,625 (GRCm39)	M98K	probably benign	Het
Gm9637	A	T	14: 19,402,545 (GRCm38)		noncoding transcript	Het
Herc1	A	G	9: 66,383,696 (GRCm39)	D3720G	probably benign	Het
Kcnh5	C	T	12: 75,023,471 (GRCm39)	M532I	probably benign	Het
Kcnk18	T	C	19: 59,223,295 (GRCm39)	Y147H	probably damaging	Het
Kif21a	A	T	15: 90,849,738 (GRCm39)	F55Y	probably damaging	Het
Krt15	T	A	11: 100,024,503 (GRCm39)	I278F	possibly damaging	Het
L3mbtl4	T	A	17: 68,894,180 (GRCm39)	Y395*	probably null	Het
Mcm3ap	T	A	10: 76,320,572 (GRCm39)	N843K	possibly damaging	Het
Mpdz	T	C	4: 81,228,394 (GRCm39)	K1337E	possibly damaging	Het
Mpdz	G	A	4: 81,215,796 (GRCm39)		probably benign	Het
Ms4a6d	T	C	19: 11,580,505 (GRCm39)		probably benign	Het
Myo7a	G	T	7: 97,726,943 (GRCm39)	R922S	possibly damaging	Het
Nek1	G	T	8: 61,465,201 (GRCm39)	G97C	probably damaging	Het
Obscn	A	G	11: 58,967,448 (GRCm39)	Y2963H	probably damaging	Het
Or4k44	T	C	2: 111,367,746 (GRCm39)	N296S	probably benign	Het
Or4k6	T	C	14: 50,476,217 (GRCm39)	N42D	probably damaging	Het
Or5w15	C	T	2: 87,568,330 (GRCm39)	V113M	probably benign	Het
Prmt3	G	A	7: 49,476,485 (GRCm39)	V365I	probably benign	Het
Prrc2c	T	C	1: 162,511,705 (GRCm39)	T958A	probably benign	Het
Ptprb	T	C	10: 116,167,164 (GRCm39)	Y947H	probably damaging	Het
Pus10	C	T	11: 23,662,275 (GRCm39)	S315L	probably damaging	Het
Rmi1	C	A	13: 58,557,290 (GRCm39)	S513*	probably null	Het
Sec14l3	C	T	11: 4,024,768 (GRCm39)	P239L	probably damaging	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Srsf3-ps	C	T	11: 98,516,364 (GRCm39)	R3H	probably benign	Het
Stat1	G	A	1: 52,171,703 (GRCm39)	A125T	probably benign	Het
Tigd2	C	T	6: 59,188,683 (GRCm39)	Q517*	probably null	Het
Trav13d-3	C	T	14: 53,270,837 (GRCm39)	Q100*	probably null	Het
Trim67	G	A	8: 125,552,691 (GRCm39)	D598N	probably damaging	Het
Trio	A	G	15: 27,735,522 (GRCm39)	L2856P	probably damaging	Het

Other mutations in Foxs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01641:Foxs1	APN	2	152,774,232 (GRCm39)	missense	probably benign
IGL02491:Foxs1	APN	2	152,774,721 (GRCm39)	missense	probably damaging	1.00
IGL03009:Foxs1	APN	2	152,774,849 (GRCm39)	missense	probably damaging	1.00
IGL03046:Foxs1	UTSW	2	152,774,484 (GRCm39)	missense	probably benign	0.00
R0158:Foxs1	UTSW	2	152,774,330 (GRCm39)	missense	probably damaging	1.00
R0324:Foxs1	UTSW	2	152,774,607 (GRCm39)	missense	probably benign	0.02
R1616:Foxs1	UTSW	2	152,774,559 (GRCm39)	missense	probably benign	0.37
R1915:Foxs1	UTSW	2	152,774,760 (GRCm39)	missense	probably damaging	0.99
R3113:Foxs1	UTSW	2	152,774,156 (GRCm39)	missense	probably benign	0.00
R4885:Foxs1	UTSW	2	152,774,301 (GRCm39)	missense	probably benign	0.00
R6084:Foxs1	UTSW	2	152,774,762 (GRCm39)	missense	possibly damaging	0.81
R6265:Foxs1	UTSW	2	152,774,098 (GRCm39)	nonsense	probably null
R6720:Foxs1	UTSW	2	152,774,640 (GRCm39)	missense	probably damaging	0.99
R6828:Foxs1	UTSW	2	152,775,048 (GRCm39)	nonsense	probably null
R6845:Foxs1	UTSW	2	152,774,619 (GRCm39)	missense	probably benign
R7456:Foxs1	UTSW	2	152,775,045 (GRCm39)	missense	probably benign
R7577:Foxs1	UTSW	2	152,774,361 (GRCm39)	missense	probably benign	0.01
R7746:Foxs1	UTSW	2	152,775,028 (GRCm39)	missense	probably benign
R7841:Foxs1	UTSW	2	152,774,907 (GRCm39)	missense	possibly damaging	0.88
R8985:Foxs1	UTSW	2	152,775,058 (GRCm39)	start gained	probably benign
R9603:Foxs1	UTSW	2	152,774,281 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16