Mutagenetix > Incidental Mutation

Incidental Mutation 'R9261:Fgf20'

723638

Institutional Source

Beutler Lab

Gene Symbol

Fgf20

Ensembl Gene

ENSMUSG00000031603

Gene Name

fibroblast growth factor 20

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9261 (G1)

Quality Score

124.008

Status

Validated

Chromosome

Chromosomal Location

40279166-40308331 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 40286910 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034014] [ENSMUST00000118639]

AlphaFold

Q9ESL9

Predicted Effect

probably benign
Transcript: ENSMUST00000034014

SMART Domains

Protein: ENSMUSP00000034014
Gene: ENSMUSG00000031603

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
FGF	63	194	3.3e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118639

SMART Domains

Protein: ENSMUSP00000112756
Gene: ENSMUSG00000031603

Domain	Start	End	E-Value	Type
FGF	6	140	2.08e-47	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (73/73)

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 family. The fibroblast growth factors 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 gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit imapired coclear lateral compartment differentiation and deafness without loss of vestibular function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	T	A	9: 51,291,698	H52L	probably benign	Het
Adamts7	A	G	9: 90,193,344	E1043G	probably benign	Het
Agps	T	G	2: 75,854,506		probably benign	Het
Ahnak	A	G	19: 9,016,139	E4929G	possibly damaging	Het
Arl6ip4	T	A	5: 124,118,083		probably benign	Het
Clca3a2	G	T	3: 144,819,397	H25N	probably benign	Het
Cubn	C	T	2: 13,278,451	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,620,920	W15R	probably benign	Het
Dzank1	T	C	2: 144,513,424	E117G	probably benign	Het
Eml2	A	G	7: 19,179,818	T187A	probably benign	Het
Eml5	A	G	12: 98,856,028	V747A	probably damaging	Het
Esr1	T	A	10: 4,969,271	S454T	probably damaging	Het
Evc2	A	G	5: 37,380,551	T528A	probably benign	Het
Fbxo5	T	C	10: 5,802,325	N96S	probably damaging	Het
Fcnb	T	C	2: 28,079,624	T144A	probably damaging	Het
Gcg	T	C	2: 62,476,064		probably benign	Het
Gfm2	T	A	13: 97,162,861	Y363*	probably null	Het
Gm28710	T	C	5: 16,801,549	L88P	possibly damaging	Het
Gm4951	T	A	18: 60,220,748		probably benign	Het
Grwd1	C	T	7: 45,825,957	R387Q	probably benign	Het
Gstt2	C	T	10: 75,833,677	D59N	possibly damaging	Het
Herc1	A	G	9: 66,504,847	N4783S	probably damaging	Het
Hydin	C	A	8: 110,267,415	A27E	unknown	Het
Ikbip	A	G	10: 91,096,387	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,722,974	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,149,424	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,593,421		probably benign	Het
Klhl40	A	G	9: 121,779,936	D389G	probably benign	Het
Ly6g	A	G	15: 75,158,680	T116A	probably damaging	Het
Mast2	A	G	4: 116,308,703	L1276P	probably damaging	Het
Mitf	A	G	6: 98,013,743	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,306,643	Y192*	probably null	Het
Nav1	T	A	1: 135,460,357	E1109D	unknown	Het
Nav2	A	G	7: 49,597,156	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,677,374	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,313,067	V537A	probably damaging	Het
Notum	G	T	11: 120,660,148	T64K		Het
Nudcd2	A	G	11: 40,739,199	N144S	probably damaging	Het
Nup205	A	G	6: 35,199,857	E596G	probably benign	Het
Olfml1	T	A	7: 107,567,800	L12Q	possibly damaging	Het
Olfr1313	T	A	2: 112,072,373	D70V	probably damaging	Het
Olfr524	A	G	7: 140,202,650	V40A	probably benign	Het
Olfr639	C	T	7: 104,012,129	C191Y	probably damaging	Het
Olfr661	T	A	7: 104,688,053	F13I	probably benign	Het
Olfr668	A	T	7: 104,925,098	M222K	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Padi4	T	C	4: 140,752,615	N409S	probably damaging	Het
Pam	T	A	1: 97,975,895	T38S	probably benign	Het
Piezo2	T	C	18: 63,075,797	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,890,431	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,189,429	H180L	probably benign	Het
Pprc1	A	G	19: 46,062,429	T169A	unknown	Het
Prrc2c	A	G	1: 162,678,053	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,832,130	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,336,559	D40G	probably damaging	Het
Rbm19	T	C	5: 120,118,745	F41S	probably damaging	Het
Rbsn	T	C	6: 92,189,816	M616V	probably benign	Het
Ryr1	A	T	7: 29,052,388	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,950,098	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,199,709	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,036,866	S741T	probably damaging	Het
Stk19	T	G	17: 34,832,456	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,192,406	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,737,131	C271S	probably benign	Het
Tmem161a	C	A	8: 70,178,922	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,714,279	V80E	probably damaging	Het
Trpa1	G	A	1: 14,893,241	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,908,230	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,540,811	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,394,107	E45D	probably benign	Het
Vnn3	A	G	10: 23,865,709	E304G	probably damaging	Het
Zfp541	G	A	7: 16,082,104	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,217,523	K814E	probably benign	Het

Other mutations in Fgf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02730:Fgf20	APN	8	40279787	missense	probably damaging	0.99
IGL03365:Fgf20	APN	8	40279891	missense	possibly damaging	0.95
mermaid	UTSW	8	40281148	missense	probably damaging	0.98
LCD18:Fgf20	UTSW	8	40292318	intron	probably benign
R1893:Fgf20	UTSW	8	40279803	missense	possibly damaging	0.49
R4067:Fgf20	UTSW	8	40279855	missense	probably benign	0.00
R4613:Fgf20	UTSW	8	40286611	missense	probably benign
R6166:Fgf20	UTSW	8	40279840	missense	probably damaging	0.98
R6280:Fgf20	UTSW	8	40281112	nonsense	probably null
R6869:Fgf20	UTSW	8	40281148	missense	probably damaging	0.98
R7561:Fgf20	UTSW	8	40279934	missense	possibly damaging	0.92
R7739:Fgf20	UTSW	8	40279896	missense	probably damaging	1.00
R8191:Fgf20	UTSW	8	40308320	start gained	probably benign
R9144:Fgf20	UTSW	8	40279917	missense

Predicted Primers

PCR Primer
(F):5'- AAAACAGGAGACTTCCCTCTGC -3'
(R):5'- TCACTTCCGAGGAGCACAAC -3'

Sequencing Primer
(F):5'- TCTGCACCGCCAATAAAAAGTGTAG -3'
(R):5'- GGAGGCTGGTTTAAGATTTCAAAC -3'

Posted On

2022-09-12