Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Fgf10'

480909

Institutional Source

Beutler Lab

Gene Symbol

Fgf10

Ensembl Gene

ENSMUSG00000021732

Gene Name

fibroblast growth factor 10

Synonyms

Gsfaey17, AEY17, FGF-10

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118669791-118792115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118715508 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 42 (D42V)

Ref Sequence

ENSEMBL: ENSMUSP00000022246 (fasta)

Gene Model

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

AlphaFold

O35565

Predicted Effect

probably benign
Transcript: ENSMUST00000022246
AA Change: D42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022246
Gene: ENSMUSG00000021732
AA Change: D42V

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: ENSMUST00000144680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146674

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,508,623 (GRCm38)	L188*	probably null	Het
Acod1	C	T	14: 103,055,035 (GRCm38)	R332C	probably damaging	Het
Adamts3	T	A	5: 89,691,335 (GRCm38)	K852M	probably damaging	Het
Adm	A	T	7: 110,627,696 (GRCm38)		probably benign	Het
Aff4	A	G	11: 53,373,010 (GRCm38)	S286G	probably damaging	Het
Ank2	A	G	3: 126,959,651 (GRCm38)		probably null	Het
Aqr	A	T	2: 114,143,049 (GRCm38)	Y427*	probably null	Het
Arid1b	C	A	17: 4,994,956 (GRCm38)		probably benign	Het
Arpp21	T	A	9: 112,143,485 (GRCm38)	R259*	probably null	Het
Cep290	C	T	10: 100,543,321 (GRCm38)	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,176,166 (GRCm38)	163	probably null	Het
Clcn2	T	C	16: 20,713,654 (GRCm38)	E68G	possibly damaging	Het
Corin	T	A	5: 72,316,389 (GRCm38)	H699L	probably benign	Het
Cyld	T	C	8: 88,733,053 (GRCm38)	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,352,576 (GRCm38)	E613V	probably damaging	Het
Dlk1	T	C	12: 109,455,581 (GRCm38)	C74R	probably damaging	Het
Dnah12	A	C	14: 26,697,341 (GRCm38)	K128T	probably benign	Het
Dspp	T	A	5: 104,178,451 (GRCm38)	S893R	unknown	Het
Dtl	A	T	1: 191,568,572 (GRCm38)		probably null	Het
F2rl1	T	A	13: 95,514,270 (GRCm38)	S35C	probably benign	Het
Fcgbp	A	T	7: 28,120,534 (GRCm38)	Y2562F	probably benign	Het
Gm10271	A	T	10: 116,972,592 (GRCm38)	F6L	probably damaging	Het
Gm21190	T	A	5: 15,524,851 (GRCm38)	E256D	probably damaging	Het
Gm5157	A	G	7: 21,185,421 (GRCm38)	S66P	probably damaging	Het
Gm884	A	T	11: 103,613,792 (GRCm38)	M2450K	possibly damaging	Het
Hal	T	G	10: 93,490,916 (GRCm38)	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,059,470 (GRCm38)		probably null	Het
Lrsam1	T	C	2: 32,955,222 (GRCm38)	T94A	probably benign	Het
Macc1	T	C	12: 119,447,585 (GRCm38)	V696A	probably damaging	Het
Magi2	G	A	5: 19,227,291 (GRCm38)	M1I	probably null	Het
March7	C	A	2: 60,245,220 (GRCm38)	N674K	probably benign	Het
Mfap1b	A	G	2: 121,470,295 (GRCm38)	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069 (GRCm38)	S40L	probably benign	Het
Ndufs2	A	T	1: 171,236,418 (GRCm38)	V386E	probably damaging	Het
Nfic	C	T	10: 81,420,747 (GRCm38)	A19T	probably damaging	Het
Nfs1	G	A	2: 156,134,453 (GRCm38)	R174W	probably damaging	Het
Nin	G	T	12: 70,045,524 (GRCm38)	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,623,507 (GRCm38)	I754V	probably benign	Het
Nwd1	T	C	8: 72,653,573 (GRCm38)		probably null	Het
Olfr1231	T	A	2: 89,303,359 (GRCm38)	T78S	possibly damaging	Het
Olfr1238	T	A	2: 89,406,879 (GRCm38)	M67L	probably benign	Het
Olfr575	G	T	7: 102,955,009 (GRCm38)	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,763,449 (GRCm38)	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,318,993 (GRCm38)	R638*	probably null	Het
Pkmyt1	G	C	17: 23,735,326 (GRCm38)	W360S	probably benign	Het
Plxnd1	C	A	6: 115,967,787 (GRCm38)		probably null	Het
Poldip3	A	T	15: 83,129,229 (GRCm38)	N322K	probably damaging	Het
Prmt3	A	T	7: 49,828,947 (GRCm38)	I419L	probably benign	Het
Prss36	A	T	7: 127,944,830 (GRCm38)	V123E	probably damaging	Het
Prss58	A	G	6: 40,897,769 (GRCm38)	I46T	probably damaging	Het
Rac1	T	C	5: 143,506,998 (GRCm38)		probably benign	Het
Rb1cc1	A	G	1: 6,233,996 (GRCm38)	Y36C	probably damaging	Het
Rif1	C	G	2: 52,095,844 (GRCm38)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999 (GRCm38)	L57F	probably damaging	Het
Rp1	A	T	1: 4,148,703 (GRCm38)	F951L	unknown	Het
Rps6ka5	G	T	12: 100,575,250 (GRCm38)	P417T	possibly damaging	Het
Ryr1	A	G	7: 29,067,637 (GRCm38)	W2967R	probably damaging	Het
Sacs	T	A	14: 61,205,543 (GRCm38)	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,335,456 (GRCm38)	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,445,996 (GRCm38)	Y114C	probably damaging	Het
Son	T	C	16: 91,658,904 (GRCm38)	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534 (GRCm38)	V447M	probably benign	Het
St3gal2	T	A	8: 110,969,553 (GRCm38)	Y257N	probably damaging	Het
Tars	A	T	15: 11,397,196 (GRCm38)	D40E	probably damaging	Het
Tlr3	T	C	8: 45,397,814 (GRCm38)	H158R	probably benign	Het
Tppp2	G	T	14: 51,918,935 (GRCm38)	V50L	probably benign	Het
Trrap	T	C	5: 144,810,184 (GRCm38)	S1503P	probably benign	Het
Ttll4	T	G	1: 74,685,391 (GRCm38)	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,029,485 (GRCm38)	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,259,647 (GRCm38)	C688S	probably damaging	Het
Vps16	T	C	2: 130,424,449 (GRCm38)		probably null	Het
Zfp608	G	A	18: 54,899,248 (GRCm38)	T540I	probably benign	Het
Zfp775	G	A	6: 48,619,816 (GRCm38)	R208Q	probably damaging	Het

Other mutations in Fgf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03400:Fgf10	APN	13	118,781,615 (GRCm38)	splice site	probably null
BB003:Fgf10	UTSW	13	118,789,216 (GRCm38)	missense	probably damaging	1.00
BB013:Fgf10	UTSW	13	118,789,216 (GRCm38)	missense	probably damaging	1.00
R0487:Fgf10	UTSW	13	118,781,611 (GRCm38)	critical splice donor site	probably null
R0789:Fgf10	UTSW	13	118,789,205 (GRCm38)	missense	probably benign
R1876:Fgf10	UTSW	13	118,789,159 (GRCm38)	missense	probably damaging	1.00
R1939:Fgf10	UTSW	13	118,789,152 (GRCm38)	missense	probably damaging	1.00
R2032:Fgf10	UTSW	13	118,715,595 (GRCm38)	missense	probably damaging	1.00
R3768:Fgf10	UTSW	13	118,781,547 (GRCm38)	missense	probably damaging	1.00
R3769:Fgf10	UTSW	13	118,781,547 (GRCm38)	missense	probably damaging	1.00
R4756:Fgf10	UTSW	13	118,781,509 (GRCm38)	missense	probably benign	0.03
R6289:Fgf10	UTSW	13	118,715,492 (GRCm38)	missense	probably benign	0.01
R6301:Fgf10	UTSW	13	118,715,511 (GRCm38)	missense	probably benign	0.02
R6755:Fgf10	UTSW	13	118,789,285 (GRCm38)	missense	probably damaging	1.00
R7174:Fgf10	UTSW	13	118,715,406 (GRCm38)	missense	probably benign	0.39
R7189:Fgf10	UTSW	13	118,789,123 (GRCm38)	missense	probably benign	0.02
R7926:Fgf10	UTSW	13	118,789,216 (GRCm38)	missense	probably damaging	1.00
R8407:Fgf10	UTSW	13	118,715,402 (GRCm38)	missense	possibly damaging	0.93
R8557:Fgf10	UTSW	13	118,781,596 (GRCm38)	missense	probably benign	0.00
R8831:Fgf10	UTSW	13	118,789,135 (GRCm38)	missense	probably damaging	1.00
X0024:Fgf10	UTSW	13	118,715,544 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGTATGTTCCTTCTGATGAGAC -3'
(R):5'- GAGAGGAGCACGCATTTGTTAC -3'

Sequencing Primer
(F):5'- TGAGACAATTTCCAGTGCCG -3'
(R):5'- AGGAGCACGCATTTGTTACTTACTG -3'

Posted On

2017-06-26