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

068990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9261 (G1)

Quality Score

124.008

Status

Validated

Chromosome

Chromosomal Location

40732206-40740060 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 40739951 bp (GRCm39)

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
Adamts7	A	G	9: 90,075,397 (GRCm39)	E1043G	probably benign	Het
Agps	T	G	2: 75,684,850 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,993,503 (GRCm39)	E4929G	possibly damaging	Het
Arl6ip4	T	A	5: 124,256,146 (GRCm39)		probably benign	Het
Cdhr17	T	C	5: 17,006,547 (GRCm39)	L88P	possibly damaging	Het
Clca3a2	G	T	3: 144,525,158 (GRCm39)	H25N	probably benign	Het
Cubn	C	T	2: 13,283,262 (GRCm39)	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,320,345 (GRCm39)	W15R	probably benign	Het
Dzank1	T	C	2: 144,355,344 (GRCm39)	E117G	probably benign	Het
Eml2	A	G	7: 18,913,743 (GRCm39)	T187A	probably benign	Het
Eml5	A	G	12: 98,822,287 (GRCm39)	V747A	probably damaging	Het
Esr1	T	A	10: 4,919,271 (GRCm39)	S454T	probably damaging	Het
Evc2	A	G	5: 37,537,895 (GRCm39)	T528A	probably benign	Het
Fbxo5	T	C	10: 5,752,325 (GRCm39)	N96S	probably damaging	Het
Fcnb	T	C	2: 27,969,636 (GRCm39)	T144A	probably damaging	Het
Gcg	T	C	2: 62,306,408 (GRCm39)		probably benign	Het
Gfm2	T	A	13: 97,299,369 (GRCm39)	Y363*	probably null	Het
Grwd1	C	T	7: 45,475,381 (GRCm39)	R387Q	probably benign	Het
Gstt2	C	T	10: 75,669,511 (GRCm39)	D59N	possibly damaging	Het
Herc1	A	G	9: 66,412,129 (GRCm39)	N4783S	probably damaging	Het
Hydin	C	A	8: 110,994,047 (GRCm39)	A27E	unknown	Het
Iigp1c	T	A	18: 60,353,820 (GRCm39)		probably benign	Het
Ikbip	A	G	10: 90,932,249 (GRCm39)	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,541,724 (GRCm39)	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,077,162 (GRCm39)	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,484,248 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,609,002 (GRCm39)	D389G	probably benign	Het
Ly6g	A	G	15: 75,030,529 (GRCm39)	T116A	probably damaging	Het
Mast2	A	G	4: 116,165,900 (GRCm39)	L1276P	probably damaging	Het
Mitf	A	G	6: 97,990,704 (GRCm39)	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,243,453 (GRCm39)	Y192*	probably null	Het
Nav1	T	A	1: 135,388,095 (GRCm39)	E1109D	unknown	Het
Nav2	A	G	7: 49,246,904 (GRCm39)	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,584,656 (GRCm39)	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,359,841 (GRCm39)	V537A	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Nudcd2	A	G	11: 40,630,026 (GRCm39)	N144S	probably damaging	Het
Nup205	A	G	6: 35,176,792 (GRCm39)	E596G	probably benign	Het
Olfml1	T	A	7: 107,167,007 (GRCm39)	L12Q	possibly damaging	Het
Or4f60	T	A	2: 111,902,718 (GRCm39)	D70V	probably damaging	Het
Or51k1	C	T	7: 103,661,336 (GRCm39)	C191Y	probably damaging	Het
Or52n2c	A	T	7: 104,574,305 (GRCm39)	M222K	probably benign	Het
Or56b2	T	A	7: 104,337,260 (GRCm39)	F13I	probably benign	Het
Or6b13	A	G	7: 139,782,563 (GRCm39)	V40A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Padi4	T	C	4: 140,479,926 (GRCm39)	N409S	probably damaging	Het
Pam	T	A	1: 97,903,620 (GRCm39)	T38S	probably benign	Het
Piezo2	T	C	18: 63,208,868 (GRCm39)	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,684,080 (GRCm39)	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,019,910 (GRCm39)	H180L	probably benign	Het
Pou2af2	T	A	9: 51,202,998 (GRCm39)	H52L	probably benign	Het
Pprc1	A	G	19: 46,050,868 (GRCm39)	T169A	unknown	Het
Prrc2c	A	G	1: 162,505,622 (GRCm39)	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,722,956 (GRCm39)	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,226,571 (GRCm39)	D40G	probably damaging	Het
Rbm19	T	C	5: 120,256,810 (GRCm39)	F41S	probably damaging	Het
Rbsn	T	C	6: 92,166,797 (GRCm39)	M616V	probably benign	Het
Ryr1	A	T	7: 28,751,813 (GRCm39)	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,861,396 (GRCm39)	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,347,568 (GRCm39)	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,184,680 (GRCm39)	S741T	probably damaging	Het
Stk19	T	G	17: 35,051,432 (GRCm39)	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,645,441 (GRCm39)	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tmem161a	C	A	8: 70,631,572 (GRCm39)	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,605,105 (GRCm39)	V80E	probably damaging	Het
Trpa1	G	A	1: 14,963,465 (GRCm39)	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,799,056 (GRCm39)	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,794 (GRCm39)	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,229,976 (GRCm39)	E45D	probably benign	Het
Vnn3	A	G	10: 23,741,607 (GRCm39)	E304G	probably damaging	Het
Zfp541	G	A	7: 15,816,029 (GRCm39)	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,108,350 (GRCm39)	K814E	probably benign	Het

Other mutations in Fgf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02730:Fgf20	APN	8	40,732,828 (GRCm39)	missense	probably damaging	0.99
IGL03365:Fgf20	APN	8	40,732,932 (GRCm39)	missense	possibly damaging	0.95
mermaid	UTSW	8	40,734,189 (GRCm39)	missense	probably damaging	0.98
LCD18:Fgf20	UTSW	8	40,745,359 (GRCm39)	intron	probably benign
R1893:Fgf20	UTSW	8	40,732,844 (GRCm39)	missense	possibly damaging	0.49
R4067:Fgf20	UTSW	8	40,732,896 (GRCm39)	missense	probably benign	0.00
R4613:Fgf20	UTSW	8	40,739,652 (GRCm39)	missense	probably benign
R6166:Fgf20	UTSW	8	40,732,881 (GRCm39)	missense	probably damaging	0.98
R6280:Fgf20	UTSW	8	40,734,153 (GRCm39)	nonsense	probably null
R6869:Fgf20	UTSW	8	40,734,189 (GRCm39)	missense	probably damaging	0.98
R7561:Fgf20	UTSW	8	40,732,975 (GRCm39)	missense	possibly damaging	0.92
R7739:Fgf20	UTSW	8	40,732,937 (GRCm39)	missense	probably damaging	1.00
R8191:Fgf20	UTSW	8	40,761,361 (GRCm39)	start gained	probably benign
R9144:Fgf20	UTSW	8	40,732,958 (GRCm39)	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