Mutagenetix > Incidental Mutation

Incidental Mutation 'R0487:Fgf10'

42367

Institutional Source

Beutler Lab

Gene Symbol

Fgf10

Ensembl Gene

ENSMUSG00000021732

Gene Name

fibroblast growth factor 10

Synonyms

AEY17, FGF-10, Gsfaey17

MMRRC Submission

038686-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118851199-118928651 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 118918147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022246]

AlphaFold

O35565

Predicted Effect

probably null
Transcript: ENSMUST00000022246

SMART Domains

Protein: ENSMUSP00000022246
Gene: ENSMUSG00000021732

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
FGF	77	206	9.61e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146674

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.6%

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 protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants die at birth with multiple abnormalities including absence of lungs, severely truncated limbs, open eyelids, incomplete external genitalia, arrested pancreatic development, lack of mammary glands and impaired epidermal development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,281,687 (GRCm39)	M3190L	probably benign	Het
Adgrv1	A	T	13: 81,637,154 (GRCm39)	L3429H	probably damaging	Het
Ahnak	A	G	19: 8,991,484 (GRCm39)	D4256G	probably damaging	Het
Ahnak	A	G	19: 8,984,515 (GRCm39)	N1933S	probably benign	Het
Amacr	A	G	15: 10,984,835 (GRCm39)	D151G	probably benign	Het
Ano9	A	T	7: 140,687,762 (GRCm39)	H255Q	possibly damaging	Het
Asphd2	A	T	5: 112,539,501 (GRCm39)	Y111N	possibly damaging	Het
Cage1	T	A	13: 38,209,334 (GRCm39)	K214N	probably benign	Het
Cdkn2c	A	G	4: 109,518,606 (GRCm39)	L116P	probably damaging	Het
Cltc	C	T	11: 86,624,490 (GRCm39)	R148H	probably damaging	Het
Cmbl	A	G	15: 31,582,176 (GRCm39)	N58D	probably damaging	Het
Cpa6	T	C	1: 10,479,487 (GRCm39)	T249A	possibly damaging	Het
Cpsf1	T	A	15: 76,481,202 (GRCm39)	N1218I	probably damaging	Het
Csf2rb	T	C	15: 78,232,531 (GRCm39)	S613P	probably benign	Het
Ctnnd1	A	G	2: 84,439,411 (GRCm39)	S761P	probably damaging	Het
Cxcr6	A	C	9: 123,639,463 (GRCm39)	I155L	probably benign	Het
Ecpas	A	G	4: 58,819,155 (GRCm39)	V1265A	probably damaging	Het
Fam216a	A	G	5: 122,508,576 (GRCm39)		probably null	Het
Fgf17	T	C	14: 70,875,996 (GRCm39)	T79A	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gm1527	G	T	3: 28,980,828 (GRCm39)	V643L	probably benign	Het
Hmcn2	A	T	2: 31,276,689 (GRCm39)	Q1556L	possibly damaging	Het
Hspa4l	C	T	3: 40,738,758 (GRCm39)	T616I	possibly damaging	Het
Irag2	A	G	6: 145,110,986 (GRCm39)	S264G	probably benign	Het
Irgm1	T	C	11: 48,757,154 (GRCm39)	D219G	probably damaging	Het
Jcad	A	G	18: 4,673,243 (GRCm39)	D335G	probably damaging	Het
Kcnh4	A	G	11: 100,641,084 (GRCm39)	F455S	probably damaging	Het
Khdrbs3	T	C	15: 68,889,210 (GRCm39)	Y120H	probably damaging	Het
Kndc1	A	T	7: 139,493,939 (GRCm39)	T507S	probably null	Het
Lepr	G	T	4: 101,625,290 (GRCm39)	E482*	probably null	Het
Mcemp1	T	A	8: 3,717,507 (GRCm39)	M146K	probably benign	Het
Mllt10	A	G	2: 18,211,948 (GRCm39)	T411A	probably damaging	Het
Myh8	A	T	11: 67,192,837 (GRCm39)	I1543L	probably benign	Het
Myo1f	T	C	17: 33,797,258 (GRCm39)	S147P	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Or5j1	C	T	2: 86,878,837 (GRCm39)	V248I	probably damaging	Het
Plaat1	G	A	16: 29,039,331 (GRCm39)		probably null	Het
Plch2	G	A	4: 155,093,469 (GRCm39)	R57C	probably damaging	Het
Rbm20	G	A	19: 53,839,626 (GRCm39)	G872R	probably damaging	Het
Retsat	A	T	6: 72,583,414 (GRCm39)	I373F	probably damaging	Het
Rnf145	T	C	11: 44,446,056 (GRCm39)	F297L	probably benign	Het
Ros1	A	T	10: 52,031,204 (GRCm39)	M479K	possibly damaging	Het
Rubcnl	T	A	14: 75,273,521 (GRCm39)	N244K	probably benign	Het
Samhd1	A	G	2: 156,952,535 (GRCm39)	F406L	probably damaging	Het
Sdsl	A	T	5: 120,597,533 (GRCm39)	V258D	probably damaging	Het
Sec24c	C	G	14: 20,733,467 (GRCm39)	P166A	probably benign	Het
Sele	C	A	1: 163,881,184 (GRCm39)	Y461*	probably null	Het
Slc22a1	G	T	17: 12,881,487 (GRCm39)	S334*	probably null	Het
Spem1	T	G	11: 69,712,691 (GRCm39)		probably null	Het
Stat3	T	C	11: 100,794,469 (GRCm39)	E280G	probably damaging	Het
Stxbp4	T	C	11: 90,483,186 (GRCm39)	H280R	probably benign	Het
Tas2r129	G	A	6: 132,928,906 (GRCm39)	C281Y	probably benign	Het
Tas2r129	T	G	6: 132,928,907 (GRCm39)	C281W	probably benign	Het
Tcp11	T	A	17: 28,298,897 (GRCm39)		probably null	Het
Tnrc6b	G	A	15: 80,764,876 (GRCm39)	V793M	probably benign	Het
Vmn2r59	A	C	7: 41,696,528 (GRCm39)	Y71*	probably null	Het
Wdr35	T	C	12: 9,062,743 (GRCm39)		probably null	Het
Zan	A	G	5: 137,411,620 (GRCm39)		probably null	Het
Zap70	G	T	1: 36,818,365 (GRCm39)	V351L	probably damaging	Het
Zfp609	G	T	9: 65,609,916 (GRCm39)	Q1016K	unknown	Het
Zfp641	C	A	15: 98,187,060 (GRCm39)	V188L	probably benign	Het
Zpld2	A	T	4: 133,930,089 (GRCm39)	L72Q	probably damaging	Het

Other mutations in Fgf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03400:Fgf10	APN	13	118,918,151 (GRCm39)	splice site	probably null
BB003:Fgf10	UTSW	13	118,925,752 (GRCm39)	missense	probably damaging	1.00
BB013:Fgf10	UTSW	13	118,925,752 (GRCm39)	missense	probably damaging	1.00
R0789:Fgf10	UTSW	13	118,925,741 (GRCm39)	missense	probably benign
R1876:Fgf10	UTSW	13	118,925,695 (GRCm39)	missense	probably damaging	1.00
R1939:Fgf10	UTSW	13	118,925,688 (GRCm39)	missense	probably damaging	1.00
R2032:Fgf10	UTSW	13	118,852,131 (GRCm39)	missense	probably damaging	1.00
R3768:Fgf10	UTSW	13	118,918,083 (GRCm39)	missense	probably damaging	1.00
R3769:Fgf10	UTSW	13	118,918,083 (GRCm39)	missense	probably damaging	1.00
R4756:Fgf10	UTSW	13	118,918,045 (GRCm39)	missense	probably benign	0.03
R5992:Fgf10	UTSW	13	118,852,044 (GRCm39)	missense	probably benign	0.00
R6289:Fgf10	UTSW	13	118,852,028 (GRCm39)	missense	probably benign	0.01
R6301:Fgf10	UTSW	13	118,852,047 (GRCm39)	missense	probably benign	0.02
R6755:Fgf10	UTSW	13	118,925,821 (GRCm39)	missense	probably damaging	1.00
R7174:Fgf10	UTSW	13	118,851,942 (GRCm39)	missense	probably benign	0.39
R7189:Fgf10	UTSW	13	118,925,659 (GRCm39)	missense	probably benign	0.02
R7926:Fgf10	UTSW	13	118,925,752 (GRCm39)	missense	probably damaging	1.00
R8407:Fgf10	UTSW	13	118,851,938 (GRCm39)	missense	possibly damaging	0.93
R8557:Fgf10	UTSW	13	118,918,132 (GRCm39)	missense	probably benign	0.00
R8831:Fgf10	UTSW	13	118,925,671 (GRCm39)	missense	probably damaging	1.00
X0024:Fgf10	UTSW	13	118,852,080 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGAGGGACAACCTCTCAAAGCC -3'
(R):5'- GTTGAACAAGCTGTTTGCCAGCC -3'

Sequencing Primer
(F):5'- GGGGTTTTCAACACGTTCAAC -3'
(R):5'- CCTTGAGATGCTGCGAATCC -3'

Posted On

2013-05-23