Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02319:Fgf17'

288156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fgf17

Ensembl Gene

ENSMUSG00000022101

Gene Name

fibroblast growth factor 17

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

IGL02319

Quality Score

Status

Chromosome

Chromosomal Location

70873643-70879708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 70874183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 202 (Q202P)

Ref Sequence

ENSEMBL: ENSMUSP00000154684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022695] [ENSMUST00000022697] [ENSMUST00000227123] [ENSMUST00000228295]

AlphaFold

P63075

Predicted Effect

probably benign
Transcript: ENSMUST00000022695

SMART Domains

Protein: ENSMUSP00000022695
Gene: ENSMUSG00000022099

Domain	Start	End	E-Value	Type
low complexity region	60	72	N/A	INTRINSIC
low complexity region	88	99	N/A	INTRINSIC
low complexity region	149	160	N/A	INTRINSIC
coiled coil region	188	220	N/A	INTRINSIC
low complexity region	252	267	N/A	INTRINSIC
VHP	345	380	1.88e-18	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022697
AA Change: Q213P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022697
Gene: ENSMUSG00000022101
AA Change: Q213P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
FGF	51	178	1.66e-41	SMART
low complexity region	203	211	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227123
AA Change: Q202P

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000228295

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family 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 expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene are grossly normal at birth and apparently healthy at birth. However, there are tissue losses in the inferior colliculus and the anterior vermis of the brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	C	10: 106,784,611 (GRCm39)	Y537C	probably damaging	Het
Ambra1	A	G	2: 91,717,265 (GRCm39)	H854R	probably damaging	Het
Atf7ip	A	G	6: 136,570,116 (GRCm39)	N981S	probably benign	Het
Atp6v1d	A	G	12: 78,908,230 (GRCm39)	S2P	probably damaging	Het
Cd59a	A	T	2: 103,944,373 (GRCm39)	I74F	possibly damaging	Het
Chek2	T	C	5: 111,014,877 (GRCm39)	Y449H	possibly damaging	Het
Ctif	C	T	18: 75,654,944 (GRCm39)		probably benign	Het
Dnaaf3	T	C	7: 4,526,946 (GRCm39)	E403G	probably damaging	Het
Dock1	T	G	7: 134,374,178 (GRCm39)	V608G	possibly damaging	Het
Fcf1	T	C	12: 85,017,982 (GRCm39)		probably null	Het
Hnrnpm	A	T	17: 33,868,924 (GRCm39)	L501Q	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Klra6	A	T	6: 130,002,177 (GRCm39)	S2R	probably damaging	Het
Krtap19-9b	T	A	16: 88,729,002 (GRCm39)	Y33F	unknown	Het
Lpcat4	G	A	2: 112,074,229 (GRCm39)	V264M	probably damaging	Het
Lyzl6	T	C	11: 103,525,862 (GRCm39)	Y86C	probably damaging	Het
Myo18b	T	C	5: 112,939,005 (GRCm39)	K1669E	probably damaging	Het
Nbea	A	G	3: 55,893,159 (GRCm39)	V1558A	probably damaging	Het
Or51a42	A	G	7: 103,708,140 (GRCm39)	I223T	probably damaging	Het
Or51l14	G	A	7: 103,101,474 (GRCm39)	C310Y	probably benign	Het
Or5b105	A	G	19: 13,080,026 (GRCm39)	I214T	probably benign	Het
Or8b47	T	A	9: 38,435,166 (GRCm39)	I46N	probably damaging	Het
Pex11b	T	C	3: 96,550,885 (GRCm39)		probably benign	Het
Rbm5	A	T	9: 107,621,064 (GRCm39)	L689*	probably null	Het
Rd3	G	T	1: 191,715,452 (GRCm39)	G76C	probably null	Het
Rgs16	A	T	1: 153,617,852 (GRCm39)	I121F	probably damaging	Het
Tmem30a	A	T	9: 79,681,485 (GRCm39)	M264K	probably damaging	Het
Traf2	T	C	2: 25,426,695 (GRCm39)	E127G	probably damaging	Het
Trmt11	A	T	10: 30,436,869 (GRCm39)	D290E	probably damaging	Het
Wdr35	C	A	12: 9,077,480 (GRCm39)		probably benign	Het
Wnk2	A	G	13: 49,214,914 (GRCm39)	S1211P	possibly damaging	Het

Other mutations in Fgf17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01757:Fgf17	APN	14	70,874,420 (GRCm39)	missense	probably damaging	1.00
IGL02519:Fgf17	APN	14	70,875,968 (GRCm39)	missense	probably damaging	0.99
IGL02563:Fgf17	APN	14	70,874,178 (GRCm39)	nonsense	probably null
R0148:Fgf17	UTSW	14	70,876,313 (GRCm39)	missense	probably damaging	1.00
R0487:Fgf17	UTSW	14	70,875,996 (GRCm39)	missense	probably damaging	1.00
R1386:Fgf17	UTSW	14	70,874,210 (GRCm39)	missense	probably damaging	0.96
R2130:Fgf17	UTSW	14	70,875,927 (GRCm39)	missense	probably damaging	0.98
R2133:Fgf17	UTSW	14	70,875,927 (GRCm39)	missense	probably damaging	0.98
R4033:Fgf17	UTSW	14	70,878,966 (GRCm39)	splice site	probably benign
R4255:Fgf17	UTSW	14	70,879,162 (GRCm39)	critical splice donor site	probably null
R5503:Fgf17	UTSW	14	70,874,408 (GRCm39)	missense	probably damaging	1.00
R6924:Fgf17	UTSW	14	70,878,981 (GRCm39)	nonsense	probably null
R9032:Fgf17	UTSW	14	70,874,436 (GRCm39)	missense	probably damaging	1.00
R9085:Fgf17	UTSW	14	70,874,436 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16