Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01141:Fndc9'

52379

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fndc9

Ensembl Gene

ENSMUSG00000048721

Gene Name

fibronectin type III domain containing 9

Synonyms

C030019I05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01141

Quality Score

Status

Chromosome

Chromosomal Location

46126384-46130698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46128526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 15 (I15T)

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: I15T

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000060509
Gene: ENSMUSG00000048721
AA Change: I15T

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,828,556 (GRCm39)	D1447E	probably damaging	Het
Atp2a3	T	C	11: 72,873,491 (GRCm39)	I788T	probably damaging	Het
Axin1	G	A	17: 26,409,015 (GRCm39)	E672K	probably damaging	Het
Ccno	A	G	13: 113,125,561 (GRCm39)	D175G	probably damaging	Het
Cep83	C	A	10: 94,624,619 (GRCm39)	T632K	probably benign	Het
Ckmt1	A	T	2: 121,193,474 (GRCm39)	I345F	probably benign	Het
Cntnap1	G	A	11: 101,069,633 (GRCm39)		probably benign	Het
Cstdc3	A	G	16: 36,128,426 (GRCm39)	E7G	probably benign	Het
Edem2	A	G	2: 155,550,948 (GRCm39)	Y340H	probably benign	Het
Erich3	A	G	3: 154,419,653 (GRCm39)	K249R	probably benign	Het
Grip2	G	T	6: 91,759,878 (GRCm39)	Q300K	probably benign	Het
Herc2	T	C	7: 55,862,589 (GRCm39)	V4050A	possibly damaging	Het
Jup	A	T	11: 100,277,075 (GRCm39)	D44E	probably benign	Het
Lingo3	G	T	10: 80,671,147 (GRCm39)	P261Q	probably damaging	Het
Lrrfip2	C	T	9: 111,048,783 (GRCm39)	R311W	probably damaging	Het
Mansc1	C	A	6: 134,598,748 (GRCm39)	L56F	probably benign	Het
Map1b	A	G	13: 99,571,269 (GRCm39)	I484T	probably damaging	Het
Mpeg1	T	A	19: 12,440,149 (GRCm39)	F536I	probably damaging	Het
Mrgprb1	T	G	7: 48,097,775 (GRCm39)	T46P	probably benign	Het
Mug1	A	G	6: 121,847,458 (GRCm39)	N612S	probably benign	Het
Or5p56	T	C	7: 107,589,758 (GRCm39)	F62S	probably damaging	Het
Or6c212	T	A	10: 129,558,814 (GRCm39)	I200L	probably benign	Het
Pax8	A	G	2: 24,331,162 (GRCm39)	S178P	probably damaging	Het
Peak1	A	G	9: 56,165,811 (GRCm39)	F706L	probably benign	Het
Prkdc	A	G	16: 15,544,568 (GRCm39)	T1853A	probably damaging	Het
Reln	A	C	5: 22,174,031 (GRCm39)	F2024C	probably damaging	Het
Reln	G	T	5: 22,124,067 (GRCm39)	P2813Q	probably damaging	Het
Riox1	A	G	12: 83,998,568 (GRCm39)	Q368R	probably damaging	Het
Rspry1	T	C	8: 95,376,483 (GRCm39)	V335A	probably benign	Het
Scn3a	T	C	2: 65,325,457 (GRCm39)	N1020S	possibly damaging	Het
Scyl2	A	G	10: 89,476,497 (GRCm39)	V876A	probably benign	Het
Sdhaf3	T	A	6: 6,956,141 (GRCm39)	F39I	probably damaging	Het
Sfxn4	T	C	19: 60,839,452 (GRCm39)	E202G	possibly damaging	Het
Slc1a4	A	T	11: 20,258,644 (GRCm39)		probably benign	Het
Sln	A	G	9: 53,760,784 (GRCm39)	I10V	probably benign	Het
Ssh2	A	G	11: 77,340,552 (GRCm39)	E568G	probably damaging	Het
Supt7l	G	A	5: 31,675,779 (GRCm39)	P270S	probably benign	Het
Tanc2	A	G	11: 105,777,300 (GRCm39)		probably benign	Het
Tatdn1	A	T	15: 58,781,416 (GRCm39)		probably benign	Het
Tfip11	C	T	5: 112,477,369 (GRCm39)	P117L	possibly damaging	Het
Vpreb1a	T	C	16: 16,686,951 (GRCm39)	M9V	probably benign	Het

Other mutations in Fndc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5403:Fndc9	UTSW	11	46,128,541 (GRCm39)	missense	probably benign	0.00
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

Posted On

2013-06-21