Mutagenetix > Incidental Mutation

Incidental Mutation 'R5379:Fndc5'

425739

Institutional Source

Beutler Lab

Gene Symbol

Fndc5

Ensembl Gene

ENSMUSG00000001334

Gene Name

fibronectin type III domain containing 5

Synonyms

Pxp, 1500001L03Rik, PeP

MMRRC Submission

042954-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R5379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129030792-129038386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129035887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 175 (I175F)

Ref Sequence

ENSEMBL: ENSMUSP00000099660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102600]

AlphaFold

Q8K4Z2

Predicted Effect

probably damaging
Transcript: ENSMUST00000102600
AA Change: I175F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099660
Gene: ENSMUSG00000001334
AA Change: I175F

Domain	Start	End	E-Value	Type
FN3	31	111	7.34e-9	SMART
Pfam:DUF4808	146	204	4.7e-10	PFAM

Meta Mutation Damage Score

0.1247

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: This gene encodes a type I transmembrane protein containing fibronectin type III repeat. The encoded transmembrane protein undergoes proteolytic processing to generate a soluble hormone named irisin that is secreted into the bloodstream. The expression of this gene followed by the secretion of irisin from skeletal muscle is induced by exercise. The ectopic expression of the encoded protein in mice causes an elevation of irisin in blood and improves metabolic health. [provided by RefSeq, Jul 2016]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,096,532 (GRCm39)	L640Q	probably damaging	Het
Afap1l1	T	C	18: 61,891,721 (GRCm39)	E32G	probably damaging	Het
Atp1a1	T	A	3: 101,489,411 (GRCm39)	M734L	probably benign	Het
B4galt6	T	C	18: 20,822,296 (GRCm39)	D294G	probably damaging	Het
Baz1a	T	G	12: 54,941,133 (GRCm39)	D1539A	probably damaging	Het
Bmper	T	A	9: 23,208,520 (GRCm39)	S141T	probably benign	Het
Camkv	T	C	9: 107,822,545 (GRCm39)	V20A	probably damaging	Het
Chst8	A	G	7: 34,375,279 (GRCm39)	Y187H	probably damaging	Het
Coro1c	A	G	5: 113,983,443 (GRCm39)	Y362H	probably damaging	Het
Csmd3	C	A	15: 47,499,846 (GRCm39)	G3008*	probably null	Het
Dnah17	T	C	11: 118,008,029 (GRCm39)		probably benign	Het
Dnajb1	C	T	8: 84,335,135 (GRCm39)	R59C	possibly damaging	Het
Dpf1	A	G	7: 29,003,533 (GRCm39)	K10E	probably benign	Het
Eif5	T	C	12: 111,509,989 (GRCm39)	L311P	probably damaging	Het
Eqtn	A	G	4: 94,795,825 (GRCm39)	F251S	probably damaging	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Farp1	T	C	14: 121,494,169 (GRCm39)	V550A	possibly damaging	Het
Fat2	T	C	11: 55,194,767 (GRCm39)	T1091A	probably damaging	Het
Fbxo33	A	G	12: 59,266,246 (GRCm39)		probably benign	Het
Gtf2ird2	G	C	5: 134,246,310 (GRCm39)	R856P	probably benign	Het
Hc	A	T	2: 34,881,077 (GRCm39)	F1481I	probably damaging	Het
Helz2	T	A	2: 180,876,862 (GRCm39)	T1211S	probably benign	Het
Hmcn2	G	A	2: 31,299,023 (GRCm39)	V2790M	probably damaging	Het
Ighv1-82	T	C	12: 115,916,297 (GRCm39)	Y71C	probably damaging	Het
Itgam	A	G	7: 127,711,560 (GRCm39)	D725G	probably damaging	Het
Kif9	T	C	9: 110,350,371 (GRCm39)	V754A	probably benign	Het
Larp4b	C	A	13: 9,186,945 (GRCm39)	T91K	probably benign	Het
Mki67	T	C	7: 135,299,190 (GRCm39)	E1948G	possibly damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrgprb13	A	T	7: 47,961,496 (GRCm39)		noncoding transcript	Het
Nlrc4	A	T	17: 74,755,078 (GRCm39)	L46*	probably null	Het
Or13c7c	A	G	4: 43,836,010 (GRCm39)	I160T	probably benign	Het
Or7g21	A	T	9: 19,032,373 (GRCm39)	T38S	probably damaging	Het
Or8d1b	T	C	9: 38,887,151 (GRCm39)	Y60H	possibly damaging	Het
Orm1	A	G	4: 63,264,230 (GRCm39)		probably null	Het
Parva	A	T	7: 112,178,927 (GRCm39)	H311L	probably benign	Het
Pramel25	A	G	4: 143,521,493 (GRCm39)	I370V	probably benign	Het
Proca1	C	A	11: 78,096,092 (GRCm39)	S154R	probably damaging	Het
R3hdm2	T	C	10: 127,307,771 (GRCm39)	V344A	probably damaging	Het
Rabep1	A	T	11: 70,799,247 (GRCm39)	K293N	probably damaging	Het
Ranbp6	A	G	19: 29,789,083 (GRCm39)	V423A	probably damaging	Het
Rnf20	T	A	4: 49,652,639 (GRCm39)	Y711N	possibly damaging	Het
Sf3b1	A	T	1: 55,042,309 (GRCm39)	M498K	possibly damaging	Het
Sin3a	T	C	9: 57,018,272 (GRCm39)	M897T	probably benign	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Srbd1	A	C	17: 86,308,964 (GRCm39)	I738S	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,072,991 (GRCm39)	V2106A	possibly damaging	Het
Tasor2	T	C	13: 3,638,496 (GRCm39)	R412G	probably benign	Het
Tex47	G	A	5: 7,354,843 (GRCm39)	R8Q	probably null	Het
Trpc7	A	G	13: 56,952,363 (GRCm39)	Y548H	probably damaging	Het
Vmn1r170	A	T	7: 23,306,054 (GRCm39)	H152L	possibly damaging	Het
Zfp184	A	G	13: 22,144,051 (GRCm39)	I586V	probably damaging	Het
Zfp454	T	C	11: 50,774,629 (GRCm39)	T15A	probably damaging	Het

Other mutations in Fndc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02656:Fndc5	APN	4	129,033,239 (GRCm39)	missense	probably damaging	1.00
IGL03336:Fndc5	APN	4	129,033,711 (GRCm39)	missense	probably benign	0.00
N/A - 287:Fndc5	UTSW	4	129,033,142 (GRCm39)	missense	probably damaging	1.00
R0645:Fndc5	UTSW	4	129,033,630 (GRCm39)	splice site	probably benign
R1202:Fndc5	UTSW	4	129,033,238 (GRCm39)	missense	probably damaging	0.97
R3962:Fndc5	UTSW	4	129,033,688 (GRCm39)	missense	probably benign	0.23
R4408:Fndc5	UTSW	4	129,036,322 (GRCm39)	splice site	probably null
R5539:Fndc5	UTSW	4	129,032,514 (GRCm39)	missense	probably damaging	1.00
R6242:Fndc5	UTSW	4	129,033,688 (GRCm39)	missense	probably benign	0.23
R6951:Fndc5	UTSW	4	129,032,573 (GRCm39)	missense	possibly damaging	0.77
R7027:Fndc5	UTSW	4	129,033,316 (GRCm39)	missense	probably benign	0.00
R7112:Fndc5	UTSW	4	129,035,915 (GRCm39)	missense	probably benign	0.09
R8254:Fndc5	UTSW	4	129,032,514 (GRCm39)	missense	possibly damaging	0.86
R8947:Fndc5	UTSW	4	129,030,929 (GRCm39)	missense	probably benign	0.04
RF014:Fndc5	UTSW	4	129,035,960 (GRCm39)	missense	probably benign	0.00
Z31818:Fndc5	UTSW	4	129,033,142 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGAAGGCATGATCAGATTC -3'
(R):5'- TTCCCTTGTGCAGTCTAGGG -3'

Sequencing Primer
(F):5'- ATCAGATTCATGCTGTGGGGGAAC -3'
(R):5'- TCTAGGGACTACAGATGTCTAAGGAC -3'

Posted On

2016-08-04