Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03301:Fnd3c2'

416213

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 #

IGL03301

Quality Score

Status

Chromosome

Chromosomal Location

105278852-105298978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105295869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 49 (Q49K)

Ref Sequence

ENSEMBL: ENSMUSP00000088827 (fasta)

Gene Model

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

AlphaFold

A2AP83

Predicted Effect

probably benign
Transcript: ENSMUST00000091282
AA Change: Q49K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000088827
Gene: ENSMUSG00000073012
AA Change: Q49K

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,855,263 (GRCm39)	E418G	probably damaging	Het
Arl14	T	C	3: 69,130,276 (GRCm39)	F141S	probably damaging	Het
C1s1	A	T	6: 124,518,283 (GRCm39)		probably benign	Het
Cilp	T	C	9: 65,187,499 (GRCm39)	V1198A	probably benign	Het
Cnbd1	A	T	4: 19,055,039 (GRCm39)	I129K	probably benign	Het
Ctdp1	G	A	18: 80,492,849 (GRCm39)	Q549*	probably null	Het
Cyp2ab1	T	A	16: 20,132,549 (GRCm39)	I250F	possibly damaging	Het
Dmd	G	A	X: 82,952,120 (GRCm39)	R1765Q	probably damaging	Het
Dnah1	C	T	14: 31,014,649 (GRCm39)	G1739R	probably damaging	Het
Eml6	T	C	11: 29,714,083 (GRCm39)	K1350E	probably benign	Het
Ephx4	C	A	5: 107,574,730 (GRCm39)	T256K	probably benign	Het
Heatr1	G	T	13: 12,449,086 (GRCm39)	G1889W	probably damaging	Het
Igkv19-93	A	T	6: 68,713,465 (GRCm39)	W55R	probably damaging	Het
Jak1	T	C	4: 101,032,370 (GRCm39)	Y412C	probably damaging	Het
Moxd1	A	T	10: 24,155,382 (GRCm39)	N261I	probably damaging	Het
Mrgpra1	T	C	7: 46,985,164 (GRCm39)	N172D	probably benign	Het
Papolg	T	C	11: 23,824,503 (GRCm39)	N293S	probably benign	Het
Piezo2	A	G	18: 63,160,775 (GRCm39)	S2294P	probably damaging	Het
Ppp3cb	A	T	14: 20,574,052 (GRCm39)	V262D	probably damaging	Het
Rhox7a	A	G	X: 36,928,888 (GRCm39)	T235A	probably benign	Het
Saal1	A	G	7: 46,351,944 (GRCm39)		probably benign	Het
Scrn1	G	A	6: 54,525,322 (GRCm39)	R16*	probably null	Het
Slc22a2	A	G	17: 12,824,926 (GRCm39)	R263G	probably damaging	Het
Speer3	T	A	5: 13,845,447 (GRCm39)	L160H	probably damaging	Het
Tmcc2	T	C	1: 132,288,557 (GRCm39)	M377V	possibly damaging	Het
Tsen2	T	G	6: 115,545,732 (GRCm39)	Y341D	probably damaging	Het
Vmn2r13	A	T	5: 109,305,955 (GRCm39)	V541D	probably damaging	Het
Vmn2r15	A	G	5: 109,445,221 (GRCm39)		probably null	Het
Zfp711	T	C	X: 111,543,098 (GRCm39)	Y710H	probably damaging	Het
Zmiz2	C	T	11: 6,351,170 (GRCm39)	T566M	probably damaging	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
IGL01515:Fnd3c2	APN	X	105,282,093 (GRCm39)	missense	probably damaging	1.00
IGL02484:Fnd3c2	APN	X	105,289,092 (GRCm39)	missense	probably damaging	0.99
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

2016-08-02