Mutagenetix > Incidental Mutations

Incidental Mutation 'R0055:Ccdc146'

261978

Institutional Source

Beutler Lab

Gene Symbol

Ccdc146

Ensembl Gene

ENSMUSG00000064280

Gene Name

coiled-coil domain containing 146

Synonyms

4930528G09Rik

MMRRC Submission

038349-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0055 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21292961-21424677 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 21297006 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115245] [ENSMUST00000198930]

Predicted Effect

probably null
Transcript: ENSMUST00000115245

SMART Domains

Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	120	130	N/A	INTRINSIC
coiled coil region	194	320	N/A	INTRINSIC
low complexity region	333	342	N/A	INTRINSIC
coiled coil region	438	477	N/A	INTRINSIC
coiled coil region	549	595	N/A	INTRINSIC
coiled coil region	617	663	N/A	INTRINSIC
coiled coil region	690	720	N/A	INTRINSIC
coiled coil region	770	793	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199553

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,968,161	S108R	probably damaging	Het
2010300C02Rik	A	C	1: 37,624,256	S854A	probably benign	Het
2210016F16Rik	T	C	13: 58,384,166	D192G	probably damaging	Het
4921501E09Rik	A	T	17: 33,066,722	W369R	probably damaging	Het
A2ml1	T	C	6: 128,570,094		probably benign	Het
Atp6v1h	A	T	1: 5,084,454	T2S	probably benign	Het
Bcl11b	G	A	12: 107,965,777	P179S	probably benign	Het
Cacna1a	C	T	8: 84,580,058		probably benign	Het
Ccdc61	T	C	7: 18,892,536	D128G	probably damaging	Het
Cd55	A	G	1: 130,459,576		probably benign	Het
Cdk7	C	A	13: 100,719,304	E99*	probably null	Het
Cox8a	A	T	19: 7,217,509	S2T	probably damaging	Het
Dennd5a	A	G	7: 109,899,791	I955T	possibly damaging	Het
Dopey1	A	C	9: 86,512,652	E602A	probably benign	Het
Ephx4	T	C	5: 107,413,078	L32S	probably damaging	Het
Fbxo21	T	A	5: 118,000,490	D493E	probably benign	Het
Frmd4b	A	T	6: 97,323,649		probably benign	Het
Fzd1	A	T	5: 4,756,037	M515K	possibly damaging	Het
Gli2	A	G	1: 118,890,408		probably benign	Het
Gm12887	T	A	4: 121,616,469	K61N	probably damaging	Het
Grin2a	A	T	16: 9,669,807	V409D	probably damaging	Het
Grin2b	T	C	6: 135,923,203	I227V	probably benign	Het
Helz2	T	G	2: 181,228,821	D2879A	possibly damaging	Het
Itpr2	T	C	6: 146,323,133	N1453S	probably benign	Het
Itpr3	C	A	17: 27,098,322	S817Y	probably damaging	Het
Lin7c	T	A	2: 109,896,453		probably benign	Het
Ly75	T	C	2: 60,321,918	E1097G	probably benign	Het
Mcm10	T	C	2: 4,991,407	N882D	probably damaging	Het
Mettl13	A	T	1: 162,546,181	L167Q	probably damaging	Het
Morn2	A	T	17: 80,295,513	M1L	probably benign	Het
Mybph	G	T	1: 134,193,852	V88L	probably damaging	Het
Nefm	T	A	14: 68,121,199		probably benign	Het
Nf1	A	G	11: 79,471,551	E1497G	probably damaging	Het
Olfr1281	T	A	2: 111,328,525	Y35*	probably null	Het
Olfr137	T	C	17: 38,304,811	S217G	possibly damaging	Het
Olfr615	A	G	7: 103,561,037	K187E	probably damaging	Het
Olfr670	T	A	7: 104,960,496	T79S	possibly damaging	Het
Plcd3	C	G	11: 103,077,585	W382S	probably damaging	Het
Plxna1	T	A	6: 89,329,739	I1370F	possibly damaging	Het
Rarb	G	A	14: 16,509,066	R106C	probably damaging	Het
Rps6ka5	G	A	12: 100,678,580	T37I	probably damaging	Het
Runx1	G	T	16: 92,644,141		probably benign	Het
Scube1	A	G	15: 83,634,736	V301A	probably damaging	Het
Sema3a	A	T	5: 13,400,037	N27I	possibly damaging	Het
Slc15a3	G	T	19: 10,843,042	E8*	probably null	Het
Slc22a5	T	C	11: 53,891,206	S112G	probably benign	Het
Slc25a45	T	C	19: 5,880,467	F3L	probably damaging	Het
Slc4a4	A	C	5: 89,156,336	H502P	possibly damaging	Het
Slfn10-ps	A	G	11: 83,030,300		noncoding transcript	Het
Slit2	C	A	5: 48,281,726	C1077*	probably null	Het
Spn	A	G	7: 127,136,322	F82L	possibly damaging	Het
Tbccd1	A	G	16: 22,841,905	W54R	probably damaging	Het
Ucp1	G	T	8: 83,290,604	E8*	probably null	Het
Unc80	A	T	1: 66,506,623		probably benign	Het
Vsnl1	A	T	12: 11,386,986		probably null	Het
Zdhhc11	C	T	13: 73,982,686	Q295*	probably null	Het
Zfp457	T	A	13: 67,294,034	H63L	probably damaging	Het

Other mutations in Ccdc146

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Ccdc146	APN	5	21301422	missense	possibly damaging	0.93
IGL01066:Ccdc146	APN	5	21319542	missense	probably benign	0.03
IGL01399:Ccdc146	APN	5	21294613	missense	possibly damaging	0.75
IGL01866:Ccdc146	APN	5	21333054	missense	probably damaging	0.99
IGL01868:Ccdc146	APN	5	21333054	missense	probably damaging	0.99
IGL01869:Ccdc146	APN	5	21316839	missense	probably benign	0.25
IGL02213:Ccdc146	APN	5	21316904	missense	probably benign	0.10
IGL02338:Ccdc146	APN	5	21319606	unclassified	probably benign
IGL02553:Ccdc146	APN	5	21297633	missense	probably benign	0.00
IGL02838:Ccdc146	APN	5	21297569	missense	probably benign	0.01
Starcraft	UTSW	5	21399614	splice site	probably null
R0051:Ccdc146	UTSW	5	21316904	missense	possibly damaging	0.58
R0051:Ccdc146	UTSW	5	21316904	missense	possibly damaging	0.58
R0115:Ccdc146	UTSW	5	21322756	missense	possibly damaging	0.87
R0373:Ccdc146	UTSW	5	21319545	missense	probably benign	0.00
R1251:Ccdc146	UTSW	5	21293372	missense	probably benign	0.00
R1355:Ccdc146	UTSW	5	21321242	missense	probably damaging	1.00
R1405:Ccdc146	UTSW	5	21399732	missense	probably benign	0.00
R1405:Ccdc146	UTSW	5	21399732	missense	probably benign	0.00
R1470:Ccdc146	UTSW	5	21319566	missense	probably damaging	1.00
R1470:Ccdc146	UTSW	5	21319566	missense	probably damaging	1.00
R1556:Ccdc146	UTSW	5	21330553	missense	probably damaging	1.00
R1613:Ccdc146	UTSW	5	21294524	missense	probably damaging	0.99
R1872:Ccdc146	UTSW	5	21301290	missense	probably benign	0.01
R2271:Ccdc146	UTSW	5	21399721	missense	probably benign	0.15
R2329:Ccdc146	UTSW	5	21308612	critical splice donor site	probably null
R2518:Ccdc146	UTSW	5	21305528	missense	probably benign
R2680:Ccdc146	UTSW	5	21305269	missense	possibly damaging	0.58
R3116:Ccdc146	UTSW	5	21316955	missense	probably benign	0.02
R3121:Ccdc146	UTSW	5	21294593	missense	possibly damaging	0.56
R3122:Ccdc146	UTSW	5	21294593	missense	possibly damaging	0.56
R3159:Ccdc146	UTSW	5	21399792	missense	unknown
R3436:Ccdc146	UTSW	5	21297005	missense	possibly damaging	0.92
R4043:Ccdc146	UTSW	5	21316943	missense	probably benign	0.14
R4226:Ccdc146	UTSW	5	21322758	missense	probably benign	0.09
R4493:Ccdc146	UTSW	5	21303193	missense	possibly damaging	0.92
R5013:Ccdc146	UTSW	5	21333038	missense	probably damaging	1.00
R5024:Ccdc146	UTSW	5	21399614	splice site	probably null
R5051:Ccdc146	UTSW	5	21303083	missense	possibly damaging	0.77
R5384:Ccdc146	UTSW	5	21308713	missense	probably benign	0.37
R5532:Ccdc146	UTSW	5	21305331	missense	probably benign	0.02
R5906:Ccdc146	UTSW	5	21301352	missense	possibly damaging	0.88
R5927:Ccdc146	UTSW	5	21308621	nonsense	probably null
R5951:Ccdc146	UTSW	5	21319579	missense	possibly damaging	0.84
R5978:Ccdc146	UTSW	5	21316968	missense	probably benign	0.02
R5990:Ccdc146	UTSW	5	21318182	missense	probably benign	0.41
R6123:Ccdc146	UTSW	5	21305597	missense	possibly damaging	0.93
R6217:Ccdc146	UTSW	5	21317902	splice site	probably null
R6276:Ccdc146	UTSW	5	21301340	missense	probably damaging	0.98
R6665:Ccdc146	UTSW	5	21303094	missense	probably damaging	1.00
R7077:Ccdc146	UTSW	5	21305274	missense	possibly damaging	0.94
R7204:Ccdc146	UTSW	5	21308626	missense	probably benign	0.22
R7336:Ccdc146	UTSW	5	21303112	missense	probably benign	0.41
R7608:Ccdc146	UTSW	5	21301452	missense	probably benign	0.02
R8310:Ccdc146	UTSW	5	21301471	intron	probably benign
R8427:Ccdc146	UTSW	5	21399792	missense	unknown

Predicted Primers

Posted On

2015-02-04