Mutagenetix > Incidental Mutation

Incidental Mutation 'R6301:Fgf10'

509117

Institutional Source

Beutler Lab

Gene Symbol

Fgf10

Ensembl Gene

ENSMUSG00000021732

Gene Name

fibroblast growth factor 10

Synonyms

AEY17, FGF-10, Gsfaey17

MMRRC Submission

044466-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118851199-118928651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118852047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 43 (M43K)

Ref Sequence

ENSEMBL: ENSMUSP00000022246 (fasta)

Gene Model

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

AlphaFold

O35565

Predicted Effect

probably benign
Transcript: ENSMUST00000022246
AA Change: M43K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000022246
Gene: ENSMUSG00000021732
AA Change: M43K

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

Meta Mutation Damage Score

0.1444

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	C	T	4: 144,285,224 (GRCm39)	A138T	probably damaging	Het
Acot10	T	C	15: 20,666,348 (GRCm39)	N131S	probably benign	Het
Agbl5	A	G	5: 31,049,177 (GRCm39)	Y220C	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap3b1	A	T	13: 94,664,803 (GRCm39)	Q914L	unknown	Het
Arhgef25	T	C	10: 127,021,751 (GRCm39)	D216G	possibly damaging	Het
Bcas2	T	A	3: 103,079,187 (GRCm39)		probably benign	Het
Bpifb5	A	C	2: 154,072,139 (GRCm39)	H282P	possibly damaging	Het
Ccdc121rt2	A	T	5: 112,598,334 (GRCm39)	I294F	possibly damaging	Het
Ccdc167	A	G	17: 29,924,556 (GRCm39)	I15T	probably damaging	Het
Cd248	A	G	19: 5,120,009 (GRCm39)	N619S	probably benign	Het
Chrna1	A	G	2: 73,400,828 (GRCm39)	F234S	possibly damaging	Het
Clcc1	T	G	3: 108,580,682 (GRCm39)	M332R	probably damaging	Het
Cmklr1	T	A	5: 113,752,999 (GRCm39)	M1L	possibly damaging	Het
Cntnap5c	A	G	17: 58,199,032 (GRCm39)	M109V	probably benign	Het
Coq2	A	G	5: 100,809,729 (GRCm39)	I18T	possibly damaging	Het
Crybg3	T	C	16: 59,350,701 (GRCm39)	S880G	probably damaging	Het
Cubn	A	G	2: 13,482,889 (GRCm39)	C286R	probably damaging	Het
Defa24	T	C	8: 22,225,299 (GRCm39)	V63A	probably benign	Het
Dnah6	C	T	6: 73,063,200 (GRCm39)	R2634H	probably damaging	Het
Dusp8	T	A	7: 141,636,756 (GRCm39)		probably null	Het
Elac1	T	C	18: 73,871,939 (GRCm39)	D352G	probably damaging	Het
Ermap	A	T	4: 119,042,800 (GRCm39)	V241E	probably damaging	Het
Gabrd	A	G	4: 155,471,724 (GRCm39)	V193A	probably damaging	Het
Hectd4	T	G	5: 121,392,283 (GRCm39)	C182W	possibly damaging	Het
Hook3	C	T	8: 26,524,968 (GRCm39)	W26*	probably null	Het
Kif1a	C	A	1: 92,982,663 (GRCm39)	E714*	probably null	Het
Krt6b	T	C	15: 101,587,386 (GRCm39)	E236G	probably damaging	Het
Large2	A	G	2: 92,199,861 (GRCm39)	L209P	probably damaging	Het
Lats1	A	G	10: 7,578,871 (GRCm39)	N665S	probably benign	Het
Lrrc37	A	T	11: 103,509,756 (GRCm39)		probably benign	Het
Lrrtm3	T	C	10: 63,925,001 (GRCm39)	I55M	probably benign	Het
Ltk	A	G	2: 119,582,238 (GRCm39)	S838P	probably damaging	Het
Ltn1	T	C	16: 87,217,194 (GRCm39)	I348V	probably benign	Het
Mag	T	A	7: 30,600,104 (GRCm39)	S559C	probably damaging	Het
Mink1	A	G	11: 70,503,120 (GRCm39)	H1072R	possibly damaging	Het
Mycbp2	T	A	14: 103,392,862 (GRCm39)	Q833L	probably damaging	Het
Myh4	G	A	11: 67,146,159 (GRCm39)	E1406K	possibly damaging	Het
Npc1	C	T	18: 12,330,302 (GRCm39)	V950I	probably benign	Het
Npl	A	G	1: 153,394,627 (GRCm39)		probably null	Het
Or10w3	A	G	19: 13,703,753 (GRCm39)	I43V	probably benign	Het
Or11g27	T	A	14: 50,771,711 (GRCm39)	F281I	probably benign	Het
Or2m13	A	T	16: 19,226,167 (GRCm39)	F200I	possibly damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Oxsm	A	T	14: 16,242,220 (GRCm38)	I183N	probably damaging	Het
Pde7a	T	C	3: 19,297,327 (GRCm39)	I108V	probably benign	Het
Pgghg	A	T	7: 140,526,289 (GRCm39)	T585S	probably damaging	Het
Pkhd1l1	G	A	15: 44,452,921 (GRCm39)	D3949N	probably damaging	Het
Ralgapa2	A	T	2: 146,169,331 (GRCm39)	H1777Q	possibly damaging	Het
Rela	G	A	19: 5,695,438 (GRCm39)		probably null	Het
Rilpl1	C	A	5: 124,652,602 (GRCm39)	G41W	probably damaging	Het
Rp1	T	C	1: 4,417,477 (GRCm39)	K1212E	probably benign	Het
Sgca	A	C	11: 94,863,393 (GRCm39)	L28V	probably damaging	Het
Ssmem1	A	G	6: 30,519,758 (GRCm39)	R148G	probably damaging	Het
St8sia5	A	T	18: 77,333,836 (GRCm39)	N165Y	probably damaging	Het
Tbl2	A	T	5: 135,188,223 (GRCm39)	H339L	probably benign	Het
Tcof1	G	A	18: 60,961,897 (GRCm39)	P718L	probably damaging	Het
Trim72	A	T	7: 127,603,786 (GRCm39)	E44V	possibly damaging	Het
Try10	T	A	6: 41,332,523 (GRCm39)	S60T	probably benign	Het
Usp31	A	T	7: 121,247,499 (GRCm39)	S1315T	possibly damaging	Het
Xrn2	A	G	2: 146,905,262 (GRCm39)	I856V	probably benign	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
R0487:Fgf10	UTSW	13	118,918,147 (GRCm39)	critical splice donor site	probably null
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
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'- TCCAGTATGTTCCTTCTGATGAGAC -3'
(R):5'- GAGAGGAGCACGCATTTGTTAC -3'

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

Posted On

2018-04-02