Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02282:Fgf8'

289888

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fgf8

Ensembl Gene

ENSMUSG00000025219

Gene Name

fibroblast growth factor 8

Synonyms

Fgf-8, Aigf

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02282

Quality Score

Status

Chromosome

Chromosomal Location

45725237-45731354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45725529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 201 (H201R)

Ref Sequence

ENSEMBL: ENSMUSP00000107556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026240] [ENSMUST00000026241] [ENSMUST00000111924] [ENSMUST00000111925] [ENSMUST00000111927] [ENSMUST00000111928]

AlphaFold

P37237

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026240
AA Change: H212R

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026240
Gene: ENSMUSG00000025219
AA Change: H212R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	49	58	N/A	INTRINSIC
FGF	79	207	1.22e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026241
AA Change: H236R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000026241
Gene: ENSMUSG00000025219
AA Change: H236R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
FGF	103	231	1.22e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111924
AA Change: H108R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107555
Gene: ENSMUSG00000025219
AA Change: H108R

Domain	Start	End	E-Value	Type
FGF	1	103	1.56e-28	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111925
AA Change: H201R

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107556
Gene: ENSMUSG00000025219
AA Change: H201R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
FGF	68	196	1.22e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111927
AA Change: H172R

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107558
Gene: ENSMUSG00000025219
AA Change: H172R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
FGF	39	167	1.22e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111928
AA Change: H183R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000107559
Gene: ENSMUSG00000025219
AA Change: H183R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
FGF	50	178	1.22e-48	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit cardiovascular defects (including abnormal left-right axis determination), impaired limb, thymic, and craniofacial development, and prenatal or early postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,983,351 (GRCm39)	D1545G	probably damaging	Het
Baiap3	A	C	17: 25,468,351 (GRCm39)	D234E	probably benign	Het
Bltp2	C	T	11: 78,175,054 (GRCm39)	P1730S	probably benign	Het
Cand1	T	A	10: 119,046,614 (GRCm39)	T959S	probably benign	Het
Ctdspl2	A	G	2: 121,807,959 (GRCm39)		probably benign	Het
Cyp2a4	A	C	7: 26,008,472 (GRCm39)	M205L	probably benign	Het
Dlx5	G	A	6: 6,881,762 (GRCm39)	A42V	probably damaging	Het
Dnah7a	A	G	1: 53,682,669 (GRCm39)	I267T	possibly damaging	Het
Dnajb6	A	G	5: 29,957,416 (GRCm39)	D66G	probably damaging	Het
Gpc1	A	G	1: 92,785,689 (GRCm39)	K460E	probably damaging	Het
Gzme	A	T	14: 56,355,826 (GRCm39)	L162Q	probably damaging	Het
Ik	G	A	18: 36,878,697 (GRCm39)	G17D	probably damaging	Het
Il4	G	A	11: 53,509,001 (GRCm39)	T59M	probably damaging	Het
Kcnh3	G	T	15: 99,125,924 (GRCm39)		probably null	Het
Mill1	G	T	7: 17,997,129 (GRCm39)		probably null	Het
Npbwr1	A	T	1: 5,987,184 (GRCm39)	M110K	possibly damaging	Het
Opalin	A	T	19: 41,054,943 (GRCm39)	S84T	probably benign	Het
Or10w1	T	A	19: 13,632,622 (GRCm39)	D276E	probably damaging	Het
Or7g30	A	G	9: 19,352,914 (GRCm39)	Y235C	probably benign	Het
Or8b35	A	T	9: 37,904,318 (GRCm39)	I177F	probably damaging	Het
Pcdhb11	T	C	18: 37,556,881 (GRCm39)	L737P	probably damaging	Het
Phip	G	A	9: 82,795,743 (GRCm39)	S626L	probably benign	Het
Ppl	T	C	16: 4,919,322 (GRCm39)	D435G	probably damaging	Het
Prss37	A	G	6: 40,492,317 (GRCm39)	V178A	possibly damaging	Het
Ptpn7	A	G	1: 135,062,572 (GRCm39)	I104V	probably damaging	Het
Ptprn	A	G	1: 75,229,800 (GRCm39)	Y700H	probably damaging	Het
Rab11fip5	T	A	6: 85,314,534 (GRCm39)	T555S	probably damaging	Het
Rfwd3	A	T	8: 112,020,614 (GRCm39)		probably benign	Het
Robo1	G	A	16: 72,539,026 (GRCm39)	R41H	probably damaging	Het
Rps3	A	G	7: 99,128,479 (GRCm39)		probably null	Het
Ruvbl2	G	A	7: 45,074,589 (GRCm39)	T183I	probably benign	Het
Sema4c	A	T	1: 36,589,284 (GRCm39)		probably null	Het
Shoc1	A	C	4: 59,111,114 (GRCm39)	Y53D	unknown	Het
Taar8b	T	A	10: 23,967,453 (GRCm39)	K247I	possibly damaging	Het
Tacr3	A	T	3: 134,566,834 (GRCm39)	I236F	probably benign	Het
Ttc21b	A	G	2: 66,022,081 (GRCm39)	I1168T	probably damaging	Het
Ttc9b	A	T	7: 27,355,336 (GRCm39)	D202V	probably damaging	Het
Vmn2r26	T	G	6: 124,038,584 (GRCm39)	C720G	probably damaging	Het
Vmn2r37	A	G	7: 9,209,761 (GRCm39)	S584P	probably benign	Het
Wnk2	T	A	13: 49,221,601 (GRCm39)	D1208V	probably damaging	Het
Zfp988	T	A	4: 147,416,125 (GRCm39)	C186*	probably null	Het
Zp3	A	G	5: 136,013,205 (GRCm39)	N179S	possibly damaging	Het

Other mutations in Fgf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02184:Fgf8	APN	19	45,725,655 (GRCm39)	missense	probably damaging	1.00
IGL03083:Fgf8	APN	19	45,725,667 (GRCm39)	missense	probably damaging	1.00
R1499:Fgf8	UTSW	19	45,730,786 (GRCm39)	missense	possibly damaging	0.46
R1967:Fgf8	UTSW	19	45,730,007 (GRCm39)	missense	probably damaging	1.00
R4603:Fgf8	UTSW	19	45,726,592 (GRCm39)	missense	probably benign	0.22
R5621:Fgf8	UTSW	19	45,730,821 (GRCm39)	missense	probably benign	0.05
R7187:Fgf8	UTSW	19	45,730,106 (GRCm39)	missense	probably benign	0.17
R7831:Fgf8	UTSW	19	45,730,876 (GRCm39)	missense	probably benign	0.00
R8032:Fgf8	UTSW	19	45,725,676 (GRCm39)	missense	probably damaging	1.00
R9105:Fgf8	UTSW	19	45,730,490 (GRCm39)	intron	probably benign
R9532:Fgf8	UTSW	19	45,725,679 (GRCm39)	missense	probably damaging	1.00
R9731:Fgf8	UTSW	19	45,730,846 (GRCm39)	missense	probably benign	0.44

Posted On

2015-04-16