Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02214:Fndc3c1'

284775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fndc3c1

Ensembl Gene

ENSMUSG00000033737

Gene Name

fibronectin type III domain containing 3C1

Synonyms

LOC333564

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02214

Quality Score

Status

Chromosome

Chromosomal Location

105463647-105529007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105469435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1029 (T1029I)

Ref Sequence

ENSEMBL: ENSMUSP00000038678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039447]

AlphaFold

Q6DFV6

Predicted Effect

probably benign
Transcript: ENSMUST00000039447
AA Change: T1029I

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000038678
Gene: ENSMUSG00000033737
AA Change: T1029I

Domain	Start	End	E-Value	Type
low complexity region	182	195	N/A	INTRINSIC
Blast:FN3	200	303	8e-10	BLAST
low complexity region	308	332	N/A	INTRINSIC
low complexity region	338	353	N/A	INTRINSIC
FN3	449	537	2.64e-1	SMART
FN3	551	631	2.42e-9	SMART
FN3	646	728	1.37e-8	SMART
FN3	743	827	1.11e-3	SMART
FN3	915	994	3.42e-9	SMART
FN3	1015	1090	5.48e-8	SMART
FN3	1104	1185	2.48e-6	SMART
FN3	1200	1278	1.9e-2	SMART
low complexity region	1298	1313	N/A	INTRINSIC
transmembrane domain	1333	1355	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184289

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,736 (GRCm39)		probably benign	Het
A330008L17Rik	T	A	8: 100,148,390 (GRCm39)		noncoding transcript	Het
A930004D18Rik	A	G	2: 18,032,067 (GRCm39)	L17P	unknown	Het
Abca14	A	T	7: 119,893,398 (GRCm39)	M1283L	probably benign	Het
Adarb1	A	T	10: 77,158,135 (GRCm39)	V104E	probably damaging	Het
Ano1	T	A	7: 144,209,445 (GRCm39)	N252Y	possibly damaging	Het
Atp6v0a1	A	G	11: 100,930,666 (GRCm39)	S498G	probably benign	Het
Bdp1	A	G	13: 100,178,043 (GRCm39)	V1942A	probably benign	Het
Carf	T	A	1: 60,187,240 (GRCm39)	D579E	probably damaging	Het
Cltc	A	T	11: 86,623,412 (GRCm39)	S200R	probably benign	Het
Cpeb1	T	C	7: 81,021,805 (GRCm39)	S113G	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ehd3	T	A	17: 74,127,541 (GRCm39)	L158H	probably damaging	Het
Etfa	C	A	9: 55,372,095 (GRCm39)	G289W	probably damaging	Het
Gipr	C	A	7: 18,891,471 (GRCm39)	G402V	possibly damaging	Het
Hacd1	C	T	2: 14,031,758 (GRCm39)	V242M	probably damaging	Het
Hecw1	A	G	13: 14,474,978 (GRCm39)	L520P	probably damaging	Het
Ibtk	A	T	9: 85,596,232 (GRCm39)		probably benign	Het
Igkv16-104	A	C	6: 68,402,778 (GRCm39)	I24L	probably benign	Het
Kcnh8	A	T	17: 53,184,939 (GRCm39)	Y407F	possibly damaging	Het
Mansc1	C	T	6: 134,587,323 (GRCm39)	V285M	probably benign	Het
Mindy4	A	G	6: 55,193,636 (GRCm39)	R110G	possibly damaging	Het
Morn1	C	T	4: 155,176,776 (GRCm39)	H100Y	probably damaging	Het
Naip6	A	T	13: 100,452,567 (GRCm39)	S165T	probably damaging	Het
Or13a24	A	T	7: 140,154,470 (GRCm39)	R135*	probably null	Het
Or5aq1	T	G	2: 86,965,849 (GRCm39)	K272T	probably damaging	Het
Prx	G	T	7: 27,218,337 (GRCm39)	R946M	probably damaging	Het
Ptchd1	A	G	X: 154,356,706 (GRCm39)	V833A	possibly damaging	Het
Rgl2	A	G	17: 34,154,163 (GRCm39)	D481G	probably benign	Het
Serpinb3a	A	G	1: 106,976,218 (GRCm39)		probably null	Het
Shtn1	T	C	19: 58,988,318 (GRCm39)		probably benign	Het
Slco1a7	T	A	6: 141,668,911 (GRCm39)	D507V	possibly damaging	Het
Sult1b1	C	T	5: 87,682,949 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,923,106 (GRCm39)		probably benign	Het
Trappc9	C	T	15: 72,884,731 (GRCm39)	W416*	probably null	Het
Ubr4	T	C	4: 139,155,894 (GRCm39)	Y2240H	possibly damaging	Het
Ubr4	G	A	4: 139,189,138 (GRCm39)		probably null	Het
Vmn2r76	A	C	7: 85,879,138 (GRCm39)	F387L	probably benign	Het
Vps8	G	A	16: 21,336,035 (GRCm39)	C729Y	probably damaging	Het

Other mutations in Fndc3c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Fndc3c1	APN	X	105,489,383 (GRCm39)	missense	probably benign
IGL01408:Fndc3c1	APN	X	105,476,378 (GRCm39)	missense	probably benign	0.45
IGL01518:Fndc3c1	APN	X	105,475,029 (GRCm39)	missense	probably damaging	1.00
IGL01718:Fndc3c1	APN	X	105,489,534 (GRCm39)	missense	probably benign
IGL02143:Fndc3c1	APN	X	105,516,340 (GRCm39)	splice site	probably benign
IGL03192:Fndc3c1	APN	X	105,479,922 (GRCm39)	splice site	probably null
IGL03199:Fndc3c1	APN	X	105,479,993 (GRCm39)	missense	possibly damaging	0.86
IGL03370:Fndc3c1	APN	X	105,464,307 (GRCm39)	missense	probably benign	0.04
R0644:Fndc3c1	UTSW	X	105,478,568 (GRCm39)	missense	probably benign	0.14
R0714:Fndc3c1	UTSW	X	105,468,972 (GRCm39)	nonsense	probably null
R1928:Fndc3c1	UTSW	X	105,477,128 (GRCm39)	missense	probably benign	0.28
R1998:Fndc3c1	UTSW	X	105,464,311 (GRCm39)	missense	probably benign	0.01
R1999:Fndc3c1	UTSW	X	105,464,311 (GRCm39)	missense	probably benign	0.01
R4110:Fndc3c1	UTSW	X	105,487,897 (GRCm39)	missense	probably benign	0.07
R4785:Fndc3c1	UTSW	X	105,481,308 (GRCm39)	missense	possibly damaging	0.87
R6623:Fndc3c1	UTSW	X	105,478,679 (GRCm39)	missense	possibly damaging	0.55
R7173:Fndc3c1	UTSW	X	105,478,679 (GRCm39)	missense	possibly damaging	0.55
R7208:Fndc3c1	UTSW	X	105,478,679 (GRCm39)	missense	possibly damaging	0.55
Z1176:Fndc3c1	UTSW	X	105,477,935 (GRCm39)	missense	not run

Posted On

2015-04-16