Mutagenetix > Incidental Mutation

Incidental Mutation 'R0714:Fndc3c1'

85937

Institutional Source

Beutler Lab

Gene Symbol

Fndc3c1

Ensembl Gene

ENSMUSG00000033737

Gene Name

fibronectin type III domain containing 3C1

Synonyms

LOC333564

MMRRC Submission

038897-MU

Accession Numbers

Essential gene?

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

Stock #

R0714 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

105463647-105529007 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 105468972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1087 (Y1087*)

Ref Sequence

ENSEMBL: ENSMUSP00000038678 (fasta)

Gene Model

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

AlphaFold

Q6DFV6

Predicted Effect

probably null
Transcript: ENSMUST00000039447
AA Change: Y1087*

SMART Domains

Protein: ENSMUSP00000038678
Gene: ENSMUSG00000033737
AA Change: Y1087*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	G	A	19: 21,655,973 (GRCm39)	R85H	probably damaging	Het
Adamts13	A	G	2: 26,876,997 (GRCm39)		probably benign	Het
Alb	T	C	5: 90,610,665 (GRCm39)	S82P	possibly damaging	Het
Arhgap10	G	A	8: 78,078,316 (GRCm39)		probably benign	Het
Aspscr1	T	A	11: 120,594,493 (GRCm39)		probably null	Het
Capn3	A	T	2: 120,322,361 (GRCm39)	Q359L	probably benign	Het
Ccdc110	A	T	8: 46,396,047 (GRCm39)	D646V	possibly damaging	Het
Ccr2	G	A	9: 123,905,966 (GRCm39)	G82D	probably benign	Het
Col6a4	A	G	9: 105,895,102 (GRCm39)		probably benign	Het
Dhx29	T	C	13: 113,064,499 (GRCm39)	V58A	possibly damaging	Het
Dhx35	C	A	2: 158,686,103 (GRCm39)	Q593K	probably benign	Het
Dmd	T	C	X: 83,353,503 (GRCm39)	L2240P	probably benign	Het
Emc7	A	G	2: 112,293,277 (GRCm39)	N162S	possibly damaging	Het
Exoc7	A	T	11: 116,184,120 (GRCm39)	N483K	probably benign	Het
Fbxo34	T	C	14: 47,767,486 (GRCm39)	V282A	probably damaging	Het
Kat2a	A	G	11: 100,602,178 (GRCm39)	V192A	probably damaging	Het
Larp7	T	C	3: 127,340,833 (GRCm39)	D64G	probably damaging	Het
Lnx1	A	G	5: 74,768,570 (GRCm39)		probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Nckipsd	C	A	9: 108,691,333 (GRCm39)		probably benign	Het
Ndufab1	A	G	7: 121,695,960 (GRCm39)		probably benign	Het
Nedd4	G	A	9: 72,638,728 (GRCm39)		probably benign	Het
Nrsn2	G	A	2: 152,216,042 (GRCm39)	R54*	probably null	Het
Nt5dc3	T	A	10: 86,648,238 (GRCm39)	V171E	probably damaging	Het
Nudt8	A	G	19: 4,052,023 (GRCm39)	*211W	probably null	Het
Nxph4	A	G	10: 127,362,808 (GRCm39)	S28P	probably damaging	Het
Or4f14b	A	G	2: 111,774,898 (GRCm39)	V301A	probably benign	Het
Or8k17	A	C	2: 86,066,498 (GRCm39)	L227R	probably damaging	Het
Or9g4b	A	G	2: 85,616,743 (GRCm39)	D296G	probably damaging	Het
Pcdhb15	A	G	18: 37,607,674 (GRCm39)	Y302C	probably damaging	Het
Pkdrej	A	G	15: 85,699,712 (GRCm39)	S2075P	possibly damaging	Het
Sdhc	A	T	1: 170,957,488 (GRCm39)		probably benign	Het
Sidt2	A	G	9: 45,858,358 (GRCm39)		probably benign	Het
Sik2	T	C	9: 50,818,736 (GRCm39)	M413V	probably benign	Het
Slc5a4b	A	G	10: 75,917,341 (GRCm39)	F232L	probably benign	Het
Slx1b	A	T	7: 126,291,620 (GRCm39)	I148N	probably damaging	Het
Spag17	C	G	3: 99,987,472 (GRCm39)	S1587R	probably damaging	Het
St13	T	C	15: 81,267,228 (GRCm39)	D74G	probably benign	Het
St7l	G	A	3: 104,782,244 (GRCm39)	R207H	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tacc3	T	C	5: 33,828,741 (GRCm39)		probably benign	Het
Tbx22	G	A	X: 106,728,731 (GRCm39)	V421I	probably benign	Het
Tmc3	G	A	7: 83,265,969 (GRCm39)	A705T	possibly damaging	Het
Tmem130	C	T	5: 144,674,619 (GRCm39)	V369M	probably damaging	Het
Tonsl	T	C	15: 76,517,921 (GRCm39)		probably benign	Het
Trpm6	T	A	19: 18,815,451 (GRCm39)	I1179N	possibly damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Utp23	T	G	15: 51,745,665 (GRCm39)	V55G	possibly damaging	Het
Vps11	A	G	9: 44,270,953 (GRCm39)	V143A	possibly damaging	Het
Vps50	G	T	6: 3,571,105 (GRCm39)	V618F	probably benign	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
IGL02214:Fndc3c1	APN	X	105,469,435 (GRCm39)	missense	probably benign	0.16
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
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

Predicted Primers

PCR Primer
(F):5'- GCCCAGGAAGACAAATTAAGCCAGT -3'
(R):5'- ACAGTAAGAGCCAATGTCTGCTTTTCA -3'

Sequencing Primer
(F):5'- gagagagagagagagagagagg -3'
(R):5'- GTCTGCTTTTCATCAATAATTCTCAG -3'

Posted On

2013-11-18