Mutagenetix > Incidental Mutation

Incidental Mutation 'R1758:Fgf4'

195085

Institutional Source

Beutler Lab

Gene Symbol

Fgf4

Ensembl Gene

ENSMUSG00000050917

Gene Name

fibroblast growth factor 4

Synonyms

Hstf-1, Fgf-4, Fgfk, Hst1, kFGF

MMRRC Submission

039790-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144415123-144418982 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144416049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 137 (S137G)

Ref Sequence

ENSEMBL: ENSMUSP00000056752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060336] [ENSMUST00000208265]

AlphaFold

P11403

Predicted Effect

probably benign
Transcript: ENSMUST00000060336
AA Change: S137G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000056752
Gene: ENSMUSG00000050917
AA Change: S137G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	51	66	N/A	INTRINSIC
FGF	76	202	5.32e-63	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208265
AA Change: S3G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

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 gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele undergo implantation but degenerate shortly thereafter. In vitro, cultured embryos show severely impaired proliferation of the inner cell mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,612,237 (GRCm39)	R38G	possibly damaging	Het
4930590J08Rik	T	C	6: 91,892,203 (GRCm39)	V155A	possibly damaging	Het
Adgb	A	G	10: 10,302,349 (GRCm39)	S406P	probably damaging	Het
Adgrb2	C	A	4: 129,905,668 (GRCm39)	T893N	probably damaging	Het
Adgrf5	T	C	17: 43,735,484 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,605,487 (GRCm39)	I2379N	probably damaging	Het
Arap3	C	T	18: 38,122,965 (GRCm39)	V512I	probably benign	Het
Atf4	C	T	15: 80,141,414 (GRCm39)	T268I	probably benign	Het
Cblif	G	A	19: 11,735,179 (GRCm39)	M266I	probably damaging	Het
Ccdc154	T	C	17: 25,382,156 (GRCm39)	L25P	probably damaging	Het
Ccdc9	G	A	7: 16,010,161 (GRCm39)	S381F	probably damaging	Het
Cdk17	C	T	10: 93,044,112 (GRCm39)	T17M	probably damaging	Het
Cep128	T	C	12: 91,314,352 (GRCm39)	N142S	probably benign	Het
Cep78	A	G	19: 15,936,900 (GRCm39)	I602T	probably damaging	Het
Clasp1	C	T	1: 118,475,755 (GRCm39)	T935I	probably damaging	Het
Cnr1	T	C	4: 33,945,000 (GRCm39)	S463P	probably damaging	Het
Cntnap1	T	A	11: 101,075,449 (GRCm39)	W876R	probably damaging	Het
Cntnap5c	A	G	17: 58,349,545 (GRCm39)	D286G	probably damaging	Het
Copa	C	T	1: 171,931,711 (GRCm39)	R321C	probably damaging	Het
Cspg4b	A	G	13: 113,505,266 (GRCm39)	T2132A	possibly damaging	Het
Ctla2a	T	G	13: 61,083,256 (GRCm39)	E98A	probably damaging	Het
Cux1	A	T	5: 136,421,176 (GRCm39)	D183E	probably damaging	Het
Cxcl15	A	C	5: 90,949,323 (GRCm39)	T163P	unknown	Het
Ddias	T	C	7: 92,508,571 (GRCm39)	N448S	probably benign	Het
Dhx8	T	C	11: 101,657,564 (GRCm39)	F1152S	probably damaging	Het
Dnah12	C	A	14: 26,488,071 (GRCm39)	Q992K	probably benign	Het
Eno3	G	T	11: 70,552,251 (GRCm39)	W301L	possibly damaging	Het
Faap100	A	T	11: 120,268,059 (GRCm39)	V238E	probably damaging	Het
Fhod3	A	C	18: 25,253,367 (GRCm39)	D1439A	possibly damaging	Het
Frem2	A	G	3: 53,560,778 (GRCm39)	L1243P	probably damaging	Het
Gkn3	T	G	6: 87,365,817 (GRCm39)	M1L	probably benign	Het
Gm10250	T	C	15: 5,150,509 (GRCm39)		probably benign	Het
Gm12185	T	C	11: 48,798,859 (GRCm39)	T545A	possibly damaging	Het
Gm14226	T	A	2: 154,867,378 (GRCm39)	L445H	probably damaging	Het
Gm3404	A	T	5: 146,463,036 (GRCm39)	M73L	probably benign	Het
Gm973	G	T	1: 59,673,169 (GRCm39)	R976S	unknown	Het
Gpr146	A	T	5: 139,379,137 (GRCm39)	H313L	probably benign	Het
Gys2	T	A	6: 142,418,432 (GRCm39)	E32D	probably damaging	Het
Igsf10	G	A	3: 59,236,617 (GRCm39)	T1188I	probably benign	Het
Igsf9b	A	T	9: 27,245,548 (GRCm39)	T1172S	possibly damaging	Het
Itga8	T	A	2: 12,270,144 (GRCm39)	N114I	possibly damaging	Het
Itsn2	T	A	12: 4,708,160 (GRCm39)	V795E	possibly damaging	Het
Kdm1b	T	A	13: 47,214,244 (GRCm39)	S197T	probably benign	Het
Kif5c	G	A	2: 49,613,145 (GRCm39)	R161Q	probably benign	Het
Krt33b	T	C	11: 99,916,361 (GRCm39)	Y232C	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrp1	A	T	10: 127,424,453 (GRCm39)	N744K	possibly damaging	Het
Mcm10	C	A	2: 5,008,861 (GRCm39)	L369F	probably damaging	Het
Muc5ac	T	A	7: 141,355,268 (GRCm39)	I1018N	possibly damaging	Het
Myom2	T	C	8: 15,115,795 (GRCm39)	L70P	probably benign	Het
Myt1l	T	A	12: 29,877,241 (GRCm39)	N297K	unknown	Het
Ncr1	C	T	7: 4,343,807 (GRCm39)	T98I	probably benign	Het
Nek3	T	C	8: 22,650,278 (GRCm39)	E78G	probably damaging	Het
Nfatc3	T	A	8: 106,825,768 (GRCm39)	N606K	probably damaging	Het
Nup107	T	G	10: 117,597,248 (GRCm39)	D669A	probably damaging	Het
Or10ag52	A	T	2: 87,043,758 (GRCm39)	Q174L	probably benign	Het
Or10c1	A	T	17: 37,522,204 (GRCm39)	I180N	possibly damaging	Het
Or4c3	T	C	2: 89,851,673 (GRCm39)	T246A	probably benign	Het
Or8b55	A	T	9: 38,726,871 (GRCm39)	H24L	probably benign	Het
Pcnx1	T	C	12: 82,030,258 (GRCm39)	V1711A	probably benign	Het
Pik3c3	A	G	18: 30,410,063 (GRCm39)	D99G	probably damaging	Het
Pinx1	C	A	14: 64,157,024 (GRCm39)	T317K	probably benign	Het
Ppargc1b	G	T	18: 61,431,857 (GRCm39)		probably null	Het
Pradc1	T	A	6: 85,424,203 (GRCm39)	I119F	possibly damaging	Het
Psat1	G	T	19: 15,892,243 (GRCm39)	T242K	probably damaging	Het
Psma6	G	A	12: 55,454,317 (GRCm39)	C28Y	probably damaging	Het
Pyurf	A	T	6: 57,668,817 (GRCm39)	C58*	probably null	Het
Rab3gap2	C	A	1: 185,016,081 (GRCm39)	A1331E	probably benign	Het
Rnase4	T	C	14: 51,342,722 (GRCm39)	*149Q	probably null	Het
Ruvbl2	T	C	7: 45,074,586 (GRCm39)	K184R	probably benign	Het
Scn7a	T	G	2: 66,510,527 (GRCm39)	M1292L	probably benign	Het
Scn7a	A	T	2: 66,531,231 (GRCm39)	Y549N	probably damaging	Het
Selp	A	G	1: 163,959,854 (GRCm39)	D370G	possibly damaging	Het
Slc22a15	G	A	3: 101,767,769 (GRCm39)	Q386*	probably null	Het
Slc22a29	A	G	19: 8,195,126 (GRCm39)		probably null	Het
Slc26a7	A	C	4: 14,548,491 (GRCm39)	I266S	possibly damaging	Het
Smpd4	T	C	16: 17,443,872 (GRCm39)	S112P	probably damaging	Het
Smpd4	T	A	16: 17,458,744 (GRCm39)	L165Q	probably damaging	Het
Snx33	A	G	9: 56,833,982 (GRCm39)	I29T	probably benign	Het
Spen	G	A	4: 141,203,686 (GRCm39)	P1647L	unknown	Het
Strip2	T	C	6: 29,941,940 (GRCm39)		probably null	Het
Swsap1	C	T	9: 21,867,280 (GRCm39)	R75*	probably null	Het
Tesl1	A	G	X: 23,772,990 (GRCm39)	I164V	probably benign	Het
Tmem210	C	T	2: 25,178,435 (GRCm39)	T32I	probably damaging	Het
Tnn	C	T	1: 159,975,154 (GRCm39)	R91H	possibly damaging	Het
Tnni1	G	A	1: 135,736,420 (GRCm39)	R94H	probably damaging	Het
Tnrc6c	T	A	11: 117,651,556 (GRCm39)	V1693D	probably benign	Het
Trip4	G	A	9: 65,782,259 (GRCm39)	Q158*	probably null	Het
Ttc39b	T	C	4: 83,155,586 (GRCm39)	E474G	probably damaging	Het
Usp50	C	A	2: 126,617,782 (GRCm39)	C221F	probably damaging	Het
Vmn1r171	T	C	7: 23,331,781 (GRCm39)	I2T	probably benign	Het
Wdr62	T	A	7: 29,967,328 (GRCm39)	I309F	probably damaging	Het
Xdh	A	T	17: 74,217,204 (GRCm39)	V688E	probably damaging	Het
Zfyve26	A	G	12: 79,285,718 (GRCm39)	L2353P	probably damaging	Het
Zgpat	C	A	2: 181,020,633 (GRCm39)	R269S	probably damaging	Het

Other mutations in Fgf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01872:Fgf4	APN	7	144,415,995 (GRCm39)	nonsense	probably null
R7212:Fgf4	UTSW	7	144,416,523 (GRCm39)	missense	probably benign	0.03
R7505:Fgf4	UTSW	7	144,415,498 (GRCm39)	missense	possibly damaging	0.67
R8791:Fgf4	UTSW	7	144,415,408 (GRCm39)	missense	probably benign	0.00
R9328:Fgf4	UTSW	7	144,416,664 (GRCm39)	missense	probably damaging	1.00
R9608:Fgf4	UTSW	7	144,415,335 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ATCCCAAGAGGCTTAGAGTCGGAG -3'
(R):5'- TAGGCGGAGTGTCAAAACTGTCCC -3'

Sequencing Primer
(F):5'- CTTAGAGTCGGAGGGTCTGTG -3'
(R):5'- TTGGTCTAGAAACCCAGCCTG -3'

Posted On

2014-05-23