Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01515:Fnd3c2'

89343

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fnd3c2

Ensembl Gene

ENSMUSG00000073012

Gene Name

fibronectin type III domain containing 3C2

Synonyms

5031408O05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.034) question?

Stock #

IGL01515

Quality Score

Status

Chromosome

Chromosomal Location

105278852-105298978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105282093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 721 (K721E)

Ref Sequence

ENSEMBL: ENSMUSP00000088827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091282]

AlphaFold

A2AP83

Predicted Effect

probably damaging
Transcript: ENSMUST00000091282
AA Change: K721E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088827
Gene: ENSMUSG00000073012
AA Change: K721E

Domain	Start	End	E-Value	Type
low complexity region	14	29	N/A	INTRINSIC
FN3	139	223	5.07e0	SMART
FN3	237	317	3.93e-9	SMART
FN3	332	414	5.11e-8	SMART
FN3	429	513	2.21e-3	SMART
FN3	613	688	3.93e-9	SMART
FN3	702	783	2.31e-6	SMART
FN3	798	876	2.14e-1	SMART
low complexity region	896	916	N/A	INTRINSIC
transmembrane domain	922	940	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,047,289 (GRCm39)	V588E	probably damaging	Het
Ar	C	T	X: 97,295,453 (GRCm39)		probably benign	Het
B4galt7	C	A	13: 55,757,035 (GRCm39)	Q243K	probably damaging	Het
Cdhr2	A	T	13: 54,866,051 (GRCm39)	T284S	probably benign	Het
Chdh	G	A	14: 29,758,843 (GRCm39)	R596H	probably damaging	Het
Cyp2r1	T	C	7: 114,151,947 (GRCm39)		probably benign	Het
Cyp3a44	A	T	5: 145,736,228 (GRCm39)	L74*	probably null	Het
Dnah8	A	T	17: 30,867,459 (GRCm39)	I304L	probably benign	Het
Fam171b	G	A	2: 83,710,577 (GRCm39)	E750K	probably damaging	Het
Fbxo38	T	A	18: 62,651,642 (GRCm39)	E554D	probably benign	Het
Gpam	A	G	19: 55,075,883 (GRCm39)	L243P	probably damaging	Het
Heph	A	G	X: 95,601,706 (GRCm39)	E1032G	probably damaging	Het
Igf1r	T	A	7: 67,857,200 (GRCm39)	V1054E	probably damaging	Het
Inpp4b	A	G	8: 82,679,340 (GRCm39)	S331G	possibly damaging	Het
Ints11	A	T	4: 155,959,689 (GRCm39)	I99F	probably damaging	Het
Jak3	G	A	8: 72,133,206 (GRCm39)		probably null	Het
Ky	A	G	9: 102,419,304 (GRCm39)	Y437C	probably benign	Het
Lin28a	A	G	4: 133,746,020 (GRCm39)		probably null	Het
Macc1	A	C	12: 119,414,106 (GRCm39)	K761Q	probably damaging	Het
Myom2	A	G	8: 15,172,655 (GRCm39)	D1194G	probably benign	Het
Naga	C	A	15: 82,214,360 (GRCm39)	V384F	probably benign	Het
Necab3	A	T	2: 154,396,611 (GRCm39)	S72T	probably damaging	Het
Or4a27	G	A	2: 88,559,352 (GRCm39)	T197I	probably benign	Het
Or51i2	A	G	7: 103,689,183 (GRCm39)	Y60C	probably benign	Het
Ptpn13	C	T	5: 103,703,979 (GRCm39)	S1337L	probably benign	Het
Slitrk2	C	T	X: 65,699,248 (GRCm39)	P580S	probably damaging	Het
Tpsg1	A	G	17: 25,592,936 (GRCm39)	D67G	probably damaging	Het
Tsc22d1	T	C	14: 76,742,739 (GRCm39)		probably null	Het

Other mutations in Fnd3c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Fnd3c2	APN	X	105,279,597 (GRCm39)	missense	probably damaging	1.00
IGL02484:Fnd3c2	APN	X	105,289,092 (GRCm39)	missense	probably damaging	0.99
IGL03301:Fnd3c2	APN	X	105,295,869 (GRCm39)	missense	probably benign	0.00
R0630:Fnd3c2	UTSW	X	105,282,763 (GRCm39)	missense	probably benign	0.37
R0654:Fnd3c2	UTSW	X	105,290,760 (GRCm39)	missense	possibly damaging	0.83
R1678:Fnd3c2	UTSW	X	105,281,305 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-03