Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02926:Fgf5'

363889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fgf5

Ensembl Gene

ENSMUSG00000029337

Gene Name

fibroblast growth factor 5

Synonyms

Fgf-5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

IGL02926

Quality Score

Status

Chromosome

Chromosomal Location

98402108-98424892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 98409874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 141 (A141E)

Ref Sequence

ENSEMBL: ENSMUSP00000031280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031280] [ENSMUST00000200059]

AlphaFold

P15656

Predicted Effect

probably damaging
Transcript: ENSMUST00000031280
AA Change: A141E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031280
Gene: ENSMUSG00000029337
AA Change: A141E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	34	72	N/A	INTRINSIC
FGF	83	217	3.78e-77	SMART
low complexity region	231	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200059

SMART Domains

Protein: ENSMUSP00000142420
Gene: ENSMUSG00000029337

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	34	72	N/A	INTRINSIC
Pfam:FGF	85	120	5.6e-7	PFAM

Meta Mutation Damage Score

0.3554

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted protein that is a member of a family of heparin-binding growth factors. The encoded protein regulates cell proliferation, particularly the growth of hair follicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mutations in this gene result in significantly longer pelage hair. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	T	6: 85,618,432 (GRCm39)	D2826V	probably damaging	Het
Alpl	C	T	4: 137,469,945 (GRCm39)	A460T	probably damaging	Het
C2cd5	A	G	6: 142,976,963 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,949,686 (GRCm39)	R1468Q	possibly damaging	Het
Calu	A	G	6: 29,366,919 (GRCm39)	T44A	possibly damaging	Het
Cgn	T	C	3: 94,685,326 (GRCm39)	K399R	probably benign	Het
Ciao3	A	G	17: 26,001,128 (GRCm39)	H460R	probably benign	Het
Cyp2t4	G	A	7: 26,857,228 (GRCm39)	V356M	probably damaging	Het
D430041D05Rik	T	C	2: 104,044,604 (GRCm39)	D683G	probably damaging	Het
Dhcr24	T	A	4: 106,443,552 (GRCm39)	I410N	probably damaging	Het
Dmap1	T	A	4: 117,539,085 (GRCm39)	E17V	probably benign	Het
Dnaaf9	C	T	2: 130,554,286 (GRCm39)	R921K	probably benign	Het
Dnah7a	A	G	1: 53,535,109 (GRCm39)	I2717T	possibly damaging	Het
Epb41l3	G	T	17: 69,554,741 (GRCm39)	K280N	probably damaging	Het
Espl1	T	A	15: 102,208,290 (GRCm39)	M432K	probably damaging	Het
Fto	T	A	8: 92,211,795 (GRCm39)	F373L	probably damaging	Het
Gpatch1	T	C	7: 35,007,694 (GRCm39)	D122G	probably damaging	Het
Ints11	T	C	4: 155,972,568 (GRCm39)		probably null	Het
Jarid2	A	G	13: 45,056,405 (GRCm39)	Q398R	probably benign	Het
Kcnh1	A	G	1: 191,959,208 (GRCm39)	D254G	probably damaging	Het
Lamc3	C	T	2: 31,825,737 (GRCm39)		probably benign	Het
Lamc3	C	T	2: 31,825,738 (GRCm39)		probably benign	Het
Ltbp4	T	C	7: 27,028,297 (GRCm39)		probably null	Het
Mcm6	A	G	1: 128,267,119 (GRCm39)	Y575H	probably damaging	Het
Myh9	A	C	15: 77,671,826 (GRCm39)	Y422D	probably damaging	Het
Or4c35	T	C	2: 89,808,506 (GRCm39)	L128P	probably damaging	Het
Or5b105	A	C	19: 13,080,187 (GRCm39)	N160K	possibly damaging	Het
Or8b47	T	C	9: 38,435,021 (GRCm39)		probably benign	Het
Plcb1	T	C	2: 135,206,682 (GRCm39)		probably benign	Het
Pmfbp1	A	G	8: 110,246,881 (GRCm39)	E251G	probably damaging	Het
Psg27	A	T	7: 18,291,054 (GRCm39)	V383E	probably damaging	Het
Ptprn	A	T	1: 75,224,517 (GRCm39)	H946Q	possibly damaging	Het
Rbl1	A	G	2: 157,009,333 (GRCm39)	V734A	probably benign	Het
Rspry1	T	A	8: 95,376,439 (GRCm39)	N320K	probably damaging	Het
Ryr1	A	T	7: 28,760,965 (GRCm39)	V3219D	probably damaging	Het
Ryr2	C	A	13: 11,774,721 (GRCm39)	W1145L	probably damaging	Het
Scel	A	T	14: 103,813,683 (GRCm39)	R319*	probably null	Het
Stxbp2	C	T	8: 3,685,629 (GRCm39)	T226I	probably benign	Het
Tac1	A	T	6: 7,562,410 (GRCm39)	N106I	possibly damaging	Het
Trim13	G	T	14: 61,842,693 (GRCm39)		probably null	Het
Tspan31	T	G	10: 126,904,778 (GRCm39)		probably null	Het
Usp36	C	T	11: 118,155,609 (GRCm39)	V723M	probably benign	Het
Utrn	A	T	10: 12,566,504 (GRCm39)	N1219K	probably damaging	Het
Vcan	G	T	13: 89,836,742 (GRCm39)	T2934K	probably damaging	Het

Other mutations in Fgf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Fgf5	APN	5	98,423,175 (GRCm39)	missense	probably damaging	1.00
IGL02037:Fgf5	APN	5	98,409,831 (GRCm39)	missense	probably damaging	1.00
IGL02125:Fgf5	APN	5	98,402,391 (GRCm39)	missense	possibly damaging	0.55
porcupine	UTSW	5	98,402,604 (GRCm39)	missense	probably damaging	1.00
splinter	UTSW	5	98,409,846 (GRCm39)	nonsense	probably null
ANU22:Fgf5	UTSW	5	98,423,175 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Fgf5	UTSW	5	98,409,838 (GRCm39)	missense	probably damaging	1.00
R0090:Fgf5	UTSW	5	98,409,846 (GRCm39)	nonsense	probably null
R2146:Fgf5	UTSW	5	98,423,409 (GRCm39)	makesense	probably null
R5023:Fgf5	UTSW	5	98,409,874 (GRCm39)	missense	probably damaging	0.99
R6035:Fgf5	UTSW	5	98,423,385 (GRCm39)	missense	probably damaging	1.00
R6035:Fgf5	UTSW	5	98,423,385 (GRCm39)	missense	probably damaging	1.00
R8997:Fgf5	UTSW	5	98,423,411 (GRCm39)	makesense	probably null
R9766:Fgf5	UTSW	5	98,423,113 (GRCm39)	missense	possibly damaging	0.49
X0018:Fgf5	UTSW	5	98,402,295 (GRCm39)	missense	unknown

Posted On

2015-12-18