Mutagenetix > Incidental Mutation

Incidental Mutation 'R4756:Fgf10'

358040

Institutional Source

Beutler Lab

Gene Symbol

Fgf10

Ensembl Gene

ENSMUSG00000021732

Gene Name

fibroblast growth factor 10

Synonyms

AEY17, FGF-10, Gsfaey17

MMRRC Submission

041972-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118851199-118928651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118918045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 111 (V111A)

Ref Sequence

ENSEMBL: ENSMUSP00000022246 (fasta)

Gene Model

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

AlphaFold

O35565

Predicted Effect

probably benign
Transcript: ENSMUST00000022246
AA Change: V111A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022246
Gene: ENSMUSG00000021732
AA Change: V111A

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Acss2	T	C	2: 155,403,063 (GRCm39)	F627L	probably damaging	Het
Akap8	A	G	17: 32,535,184 (GRCm39)	S277P	probably damaging	Het
Akap9	T	A	5: 4,051,418 (GRCm39)	M1395K	probably damaging	Het
Ank1	A	G	8: 23,612,893 (GRCm39)	D1468G	probably benign	Het
Apoe	A	G	7: 19,430,846 (GRCm39)	V121A	probably benign	Het
Aqp9	A	T	9: 71,070,331 (GRCm39)	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,639,529 (GRCm39)	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,667,134 (GRCm39)	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,523,980 (GRCm39)		probably benign	Het
Bltp2	T	A	11: 78,154,854 (GRCm39)	L122H	probably damaging	Het
Brsk1	A	G	7: 4,711,866 (GRCm39)	E572G	possibly damaging	Het
C6	T	C	15: 4,811,394 (GRCm39)	I414T	probably benign	Het
C8b	T	A	4: 104,644,083 (GRCm39)	M250K	probably benign	Het
Camk1g	T	A	1: 193,044,393 (GRCm39)	E7V	probably benign	Het
Clcc1	A	G	3: 108,580,236 (GRCm39)		probably null	Het
Col4a3	G	T	1: 82,694,018 (GRCm39)		probably null	Het
Cox5b	T	A	1: 36,732,310 (GRCm39)	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,019,815 (GRCm39)	H251P	probably damaging	Het
Cyp2c67	G	A	19: 39,632,188 (GRCm39)	T60I	probably benign	Het
Defb42	T	A	14: 63,285,824 (GRCm39)	V68E	probably benign	Het
Ercc4	T	A	16: 12,941,287 (GRCm39)	I225N	probably damaging	Het
Fam120b	G	T	17: 15,622,658 (GRCm39)	C212F	probably damaging	Het
Fn1	G	T	1: 71,629,967 (GRCm39)	T2186K	probably damaging	Het
Fras1	T	C	5: 96,929,518 (GRCm39)	V3974A	probably benign	Het
Galnt4	T	C	10: 98,944,362 (GRCm39)	V29A	probably benign	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,407,475 (GRCm39)	L236Q	probably damaging	Het
Hivep3	C	A	4: 119,955,020 (GRCm39)	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,708,069 (GRCm39)	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,185,783 (GRCm39)	Y69*	probably null	Het
Itgb1	G	A	8: 129,443,703 (GRCm39)	A320T	probably damaging	Het
Kcna2	T	C	3: 107,012,733 (GRCm39)	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545 (GRCm39)		probably null	Het
Klhl1	G	A	14: 96,389,402 (GRCm39)	T584I	probably benign	Het
Ltbp1	A	G	17: 75,532,199 (GRCm39)	D91G	probably damaging	Het
Mdga2	T	C	12: 66,844,427 (GRCm39)	I190M	probably damaging	Het
Meis2	G	A	2: 115,830,686 (GRCm39)	R276C	probably damaging	Het
Mob4	C	T	1: 55,191,855 (GRCm39)	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,114 (GRCm39)	I48T	possibly damaging	Het
Mst1	T	C	9: 107,960,826 (GRCm39)	V481A	probably benign	Het
Mttp	A	T	3: 137,821,832 (GRCm39)	V245E	possibly damaging	Het
Nbn	T	A	4: 15,981,470 (GRCm39)	S521T	probably benign	Het
Neb	G	T	2: 52,083,243 (GRCm39)	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,256,866 (GRCm39)	K161N	probably damaging	Het
Nod2	T	G	8: 89,390,902 (GRCm39)	F388C	possibly damaging	Het
Or3a1	G	T	11: 74,225,402 (GRCm39)	F218L	probably benign	Het
Or4a75	G	T	2: 89,447,814 (GRCm39)	H241N	possibly damaging	Het
Or4f58	A	G	2: 111,851,332 (GRCm39)	F289S	possibly damaging	Het
Or52e2	A	T	7: 102,804,332 (GRCm39)	N207K	probably benign	Het
Or7a38	T	A	10: 78,753,361 (GRCm39)	I229N	probably damaging	Het
Or7g25	G	A	9: 19,160,153 (GRCm39)	L181F	possibly damaging	Het
P2ry1	A	G	3: 60,911,898 (GRCm39)	S346G	probably benign	Het
Polr1f	T	A	12: 33,487,679 (GRCm39)		probably null	Het
Prkcd	A	G	14: 30,321,623 (GRCm39)	F524L	probably benign	Het
Qrfprl	T	C	6: 65,429,898 (GRCm39)	I198T	probably benign	Het
Ramp3	A	T	11: 6,624,843 (GRCm39)	M46L	probably benign	Het
Rint1	T	C	5: 24,014,791 (GRCm39)	Y278H	probably damaging	Het
Skint11	C	T	4: 114,051,874 (GRCm39)	T74I	probably benign	Het
Slc10a7	T	C	8: 79,433,579 (GRCm39)		probably null	Het
Slc45a2	T	A	15: 11,028,016 (GRCm39)	Y528*	probably null	Het
Slit1	A	G	19: 41,637,452 (GRCm39)	F329L	probably damaging	Het
Sltm	A	T	9: 70,498,892 (GRCm39)	M989L	possibly damaging	Het
Smad9	A	T	3: 54,701,874 (GRCm39)	T372S	possibly damaging	Het
Snrpc	T	A	17: 28,061,306 (GRCm39)	Y38*	probably null	Het
Spag17	A	G	3: 100,010,701 (GRCm39)	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,498,197 (GRCm39)	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,019,258 (GRCm39)		probably null	Het
Tgfb1i1	A	T	7: 127,848,571 (GRCm39)	M96L	probably damaging	Het
Tnc	T	A	4: 63,885,580 (GRCm39)	I1841F	probably damaging	Het
Ubap2	G	T	4: 41,211,771 (GRCm39)	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,632,580 (GRCm39)	N2592S	probably benign	Het
Xdh	G	A	17: 74,193,381 (GRCm39)	P1305L	probably benign	Het
Xrn1	G	A	9: 95,921,862 (GRCm39)	R1425K	probably benign	Het
Zfp418	G	A	7: 7,185,762 (GRCm39)	R575Q	possibly damaging	Het
Zfp608	T	A	18: 55,027,544 (GRCm39)	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,821,635 (GRCm39)	L150I	possibly 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
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
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'- TCAAAGCCTCACTCCTGGTTTG -3'
(R):5'- ATGACAGCAAAGCCATTCAGTG -3'

Sequencing Primer
(F):5'- TATACTCCCTGGGGTTTTCAACACG -3'
(R):5'- AGCAAAGCCATTCAGTGTCTTC -3'

Posted On

2015-11-11