Mutagenetix > Incidental Mutation

Incidental Mutation 'R5403:Fndc9'

430120

Institutional Source

Beutler Lab

Gene Symbol

Fndc9

Ensembl Gene

ENSMUSG00000048721

Gene Name

fibronectin type III domain containing 9

Synonyms

C030019I05Rik

MMRRC Submission

042974-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5403 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46126384-46130698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46128541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 20 (S20L)

Ref Sequence

ENSEMBL: ENSMUSP00000060509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060185] [ENSMUST00000093165] [ENSMUST00000093166] [ENSMUST00000165599]

AlphaFold

Q8BJN4

Predicted Effect

probably benign
Transcript: ENSMUST00000060185
AA Change: S20L

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

SMART Domains

Protein: ENSMUSP00000060509
Gene: ENSMUSG00000048721
AA Change: S20L

Domain	Start	End	E-Value	Type
Blast:FN3	1	85	5e-53	BLAST
SCOP:d1fnf_2	2	82	5e-8	SMART
transmembrane domain	116	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093165

SMART Domains

Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:DUF1394	59	303	5.4e-12	PFAM
Pfam:FragX_IP	388	1221	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093166

SMART Domains

Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	384	1223	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142017

SMART Domains

Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340

Domain	Start	End	E-Value	Type
Pfam:FragX_IP	58	230	4e-66	PFAM
Pfam:FragX_IP	246	916	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165599

SMART Domains

Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	384	1223	N/A	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	G	T	17: 57,183,221 (GRCm39)		probably benign	Het
Adamts6	A	G	13: 104,489,323 (GRCm39)	D392G	possibly damaging	Het
Adcy8	C	T	15: 64,588,001 (GRCm39)	V929I	probably benign	Het
Alkbh8	A	G	9: 3,385,318 (GRCm39)	K537E	probably benign	Het
Anp32a	A	T	9: 62,249,275 (GRCm39)	I16F	possibly damaging	Het
Asb18	T	C	1: 89,942,110 (GRCm39)	T64A	probably benign	Het
Bpifb4	A	T	2: 153,785,912 (GRCm39)	I17F	probably damaging	Het
Brd7	G	T	8: 89,084,169 (GRCm39)	Q148K	probably damaging	Het
Brinp1	A	G	4: 68,711,201 (GRCm39)	W336R	probably benign	Het
Ccdc88b	T	A	19: 6,835,108 (GRCm39)	T38S	unknown	Het
Cd46	C	T	1: 194,744,719 (GRCm39)	V340I	possibly damaging	Het
Cdr2	G	A	7: 120,557,968 (GRCm39)	Q186*	probably null	Het
Ces1e	T	G	8: 93,935,240 (GRCm39)	D404A	probably benign	Het
Chd3	A	T	11: 69,239,895 (GRCm39)		probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cntnap3	G	A	13: 64,909,792 (GRCm39)	T771I	possibly damaging	Het
Cops8	C	T	1: 90,534,342 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,380,677 (GRCm39)	R2078C	probably benign	Het
Ddx50	A	G	10: 62,482,809 (GRCm39)	S87P	probably benign	Het
Dennd2b	A	G	7: 109,156,112 (GRCm39)	S213P	probably damaging	Het
Dlg2	A	G	7: 92,080,210 (GRCm39)	T598A	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epha6	A	T	16: 59,595,933 (GRCm39)	D919E	probably damaging	Het
Gpx6	A	G	13: 21,501,813 (GRCm39)	E145G	probably damaging	Het
Hc	A	G	2: 34,947,446 (GRCm39)	Y23H	probably damaging	Het
Insyn2b	A	T	11: 34,353,058 (GRCm39)	T367S	probably benign	Het
Jmy	G	T	13: 93,577,904 (GRCm39)	Q755K	probably benign	Het
Krtap4-7	A	T	11: 99,534,540 (GRCm39)	S108T	unknown	Het
Mgat5b	T	G	11: 116,839,483 (GRCm39)	I333S	probably benign	Het
Mrtfb	A	G	16: 13,218,877 (GRCm39)	T519A	probably damaging	Het
Naip6	G	A	13: 100,436,585 (GRCm39)	A646V	probably benign	Het
Opn4	T	C	14: 34,314,894 (GRCm39)	T460A	probably benign	Het
Or6b2	A	T	1: 92,408,019 (GRCm39)	V108E	possibly damaging	Het
Or8g22	G	T	9: 38,957,999 (GRCm39)	P239T	probably damaging	Het
Otogl	T	A	10: 107,644,617 (GRCm39)	M1210L	probably benign	Het
Pheta1	A	G	5: 121,990,794 (GRCm39)	E52G	possibly damaging	Het
Phf24	A	T	4: 42,933,831 (GRCm39)		probably null	Het
Ppargc1a	G	A	5: 51,620,167 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 75,872,405 (GRCm39)	R1355*	probably null	Het
Rad50	A	G	11: 53,586,108 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Tbcd	C	A	11: 121,451,569 (GRCm39)	N546K	probably damaging	Het
Tenm4	A	G	7: 96,538,034 (GRCm39)	D1832G	probably damaging	Het
Tfap2e	T	C	4: 126,628,439 (GRCm39)	I172M	probably benign	Het
Tnip2	A	G	5: 34,671,108 (GRCm39)	L45P	probably damaging	Het
Ttc3	T	C	16: 94,260,703 (GRCm39)	V1396A	probably benign	Het
Ube2o	A	T	11: 116,439,633 (GRCm39)	I179N	possibly damaging	Het
Usp17le	T	C	7: 104,418,441 (GRCm39)	I234V	probably damaging	Het
Zfp106	T	C	2: 120,365,262 (GRCm39)	T382A	probably benign	Het
Zfp607a	A	G	7: 27,578,744 (GRCm39)	K605E	possibly damaging	Het
Zmynd10	T	A	9: 107,427,785 (GRCm39)	L363H	possibly damaging	Het

Other mutations in Fndc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Fndc9	APN	11	46,128,526 (GRCm39)	missense	probably benign	0.17
IGL02314:Fndc9	APN	11	46,129,122 (GRCm39)	missense	probably benign	0.00
R0565:Fndc9	UTSW	11	46,128,984 (GRCm39)	missense	probably damaging	1.00
R1518:Fndc9	UTSW	11	46,128,930 (GRCm39)	missense	probably benign	0.16
R1677:Fndc9	UTSW	11	46,129,152 (GRCm39)	missense	probably benign
R2847:Fndc9	UTSW	11	46,128,868 (GRCm39)	missense	probably damaging	1.00
R4631:Fndc9	UTSW	11	46,128,675 (GRCm39)	missense	possibly damaging	0.91
R6572:Fndc9	UTSW	11	46,128,708 (GRCm39)	missense	probably damaging	0.99
R7805:Fndc9	UTSW	11	46,129,138 (GRCm39)	missense	probably damaging	0.99
R7901:Fndc9	UTSW	11	46,128,576 (GRCm39)	missense	probably damaging	1.00
R9046:Fndc9	UTSW	11	46,128,889 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTACTAGCTTAACCTCCGGACG -3'
(R):5'- TCTTGCAGCTGATACAGAGG -3'

Sequencing Primer
(F):5'- CTCTAACGATGTCAGTATCTGTGGC -3'
(R):5'- TCTTGCAGCTGATACAGAGGAAGTAG -3'

Posted On

2016-09-06