Mutagenetix > Incidental Mutation

Incidental Mutation 'R6924:Fgf17'

539810

Institutional Source

Beutler Lab

Gene Symbol

Fgf17

Ensembl Gene

ENSMUSG00000022101

Gene Name

fibroblast growth factor 17

Synonyms

MMRRC Submission

045042-MU

Accession Numbers

Essential gene?

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

Stock #

R6924 (G1)

Quality Score

188.009

Status

Validated

Chromosome

Chromosomal Location

70873643-70879708 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 70878981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 21 (C21*)

Ref Sequence

ENSEMBL: ENSMUSP00000154684 (fasta)

Gene Model

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

AlphaFold

P63075

Predicted Effect

probably null
Transcript: ENSMUST00000022697
AA Change: C21*

SMART Domains

Protein: ENSMUSP00000022697
Gene: ENSMUSG00000022101
AA Change: C21*

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

probably null
Transcript: ENSMUST00000227123
AA Change: C21*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,884 (GRCm39)	H30P	probably damaging	Het
Abhd6	A	T	14: 8,049,850 (GRCm38)	H213L	possibly damaging	Het
Adam22	T	A	5: 8,417,322 (GRCm39)	N40I	possibly damaging	Het
Ankrd42	A	G	7: 92,231,224 (GRCm39)		probably benign	Het
Arhgap40	C	T	2: 158,369,066 (GRCm39)	R63C	probably benign	Het
Atf7ip	T	G	6: 136,536,755 (GRCm39)		probably null	Het
Atg7	T	C	6: 114,686,172 (GRCm39)		probably null	Het
Car6	A	C	4: 150,273,713 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,259,667 (GRCm39)	C302*	probably null	Het
Ccdc117	A	T	11: 5,484,255 (GRCm39)	M195K	probably benign	Het
Cep95	T	C	11: 106,702,023 (GRCm39)	M383T	probably damaging	Het
Col20a1	A	G	2: 180,638,643 (GRCm39)	E419G	probably damaging	Het
Cyp2d9	C	G	15: 82,339,413 (GRCm39)	R272G	probably damaging	Het
Dhx57	A	T	17: 80,546,244 (GRCm39)	M1380K	possibly damaging	Het
Dnah14	A	G	1: 181,455,517 (GRCm39)	S881G	probably benign	Het
Fcgbp	T	A	7: 27,793,248 (GRCm39)	I1084N	probably benign	Het
Gemin4	A	G	11: 76,103,162 (GRCm39)	L533P	probably damaging	Het
Gkn3	T	C	6: 87,365,784 (GRCm39)	R12G	probably benign	Het
Gpr161	G	T	1: 165,149,188 (GRCm39)	R519L	possibly damaging	Het
Grin2a	A	G	16: 9,481,092 (GRCm39)	V535A	possibly damaging	Het
Gys1	G	A	7: 45,093,059 (GRCm39)		probably null	Het
Hfm1	C	T	5: 106,998,276 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,240,517 (GRCm39)		probably null	Het
Hnrnpul2	T	C	19: 8,808,873 (GRCm39)	Y738H	unknown	Het
Hycc1	T	C	5: 24,191,133 (GRCm39)		probably null	Het
Igsf23	A	G	7: 19,675,684 (GRCm39)	S141P	possibly damaging	Het
Lamc3	A	C	2: 31,828,081 (GRCm39)	M1423L	probably benign	Het
Lcmt2	T	C	2: 120,970,484 (GRCm39)	T200A	probably benign	Het
Lgr4	T	C	2: 109,842,784 (GRCm39)	V899A	probably damaging	Het
Macf1	T	A	4: 123,421,145 (GRCm39)	R36S	possibly damaging	Het
Mrgprb8	A	G	7: 48,038,871 (GRCm39)	K181E	possibly damaging	Het
Muc2	G	A	7: 141,284,077 (GRCm39)	V786M	possibly damaging	Het
Nacc2	T	C	2: 25,980,041 (GRCm39)	T132A	probably damaging	Het
Nsmce2	T	A	15: 59,250,774 (GRCm39)	I15K	probably damaging	Het
Or10p22	T	G	10: 128,825,960 (GRCm39)	Y60D	probably damaging	Het
Or4k15c	A	G	14: 50,321,307 (GRCm39)	I277T	possibly damaging	Het
Otoa	A	T	7: 120,730,724 (GRCm39)		probably null	Het
Otogl	A	G	10: 107,644,502 (GRCm39)	I1248T	probably damaging	Het
Ppp1r17	T	A	6: 56,003,007 (GRCm39)	D32E	probably damaging	Het
Relt	A	C	7: 100,496,468 (GRCm39)	V427G	probably damaging	Het
Ric1	T	A	19: 29,546,788 (GRCm39)	V256D	probably damaging	Het
Samhd1	T	C	2: 156,951,403 (GRCm39)	T445A	probably benign	Het
Sepsecs	T	C	5: 52,821,646 (GRCm39)	I189V	probably benign	Het
Shroom3	T	A	5: 93,112,262 (GRCm39)	D1793E	probably damaging	Het
Sim1	C	T	10: 50,784,635 (GRCm39)	T137I	probably benign	Het
Stk17b	A	T	1: 53,800,218 (GRCm39)	D253E	possibly damaging	Het
Stmnd1	T	C	13: 46,452,969 (GRCm39)	V215A	probably benign	Het
Tcl1	A	G	12: 105,185,015 (GRCm39)	L65P	probably damaging	Het
Tiam2	A	C	17: 3,558,070 (GRCm39)	K1231N	probably damaging	Het
Tm9sf3	T	C	19: 41,206,717 (GRCm39)	Y476C	probably damaging	Het
Trim63	T	C	4: 134,048,572 (GRCm39)	S194P	probably damaging	Het
Ugt1a10	T	A	1: 87,983,379 (GRCm39)	I59N	probably damaging	Het
Vmn2r65	A	G	7: 84,613,198 (GRCm39)	F7S	probably benign	Het
Zfp775	T	A	6: 48,596,589 (GRCm39)	H154Q	probably damaging	Het
Zfp804b	C	T	5: 6,819,902 (GRCm39)	V1018I	probably benign	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
IGL02319:Fgf17	APN	14	70,874,183 (GRCm39)	missense	possibly damaging	0.92
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
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

Predicted Primers

PCR Primer
(F):5'- CCCAGGAGTGTTGTTAGAAAGG -3'
(R):5'- AACCTTACCCTGTAAGTGTGCTG -3'

Sequencing Primer
(F):5'- AGGCAAACCTCAGTCTATTCC -3'
(R):5'- CCTGTAAGTGTGCTGCCTGC -3'

Posted On

2018-11-06