Mutagenetix > Incidental Mutations

Incidental Mutation 'R0051:Ccdc146'

192637

Institutional Source

Beutler Lab

Gene Symbol

Ccdc146

Ensembl Gene

ENSMUSG00000064280

Gene Name

coiled-coil domain containing 146

Synonyms

4930528G09Rik

MMRRC Submission

038345-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0051 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

21292961-21424677 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 21316904 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 374 (R374L)

Ref Sequence

ENSEMBL: ENSMUSP00000110900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030552] [ENSMUST00000115245] [ENSMUST00000198930]

Predicted Effect

probably benign
Transcript: ENSMUST00000030552

SMART Domains

Protein: ENSMUSP00000030552
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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115245
AA Change: R374L

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
AA Change: R374L

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

noncoding transcript
Transcript: ENSMUST00000123796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132473

Predicted Effect

probably benign
Transcript: ENSMUST00000198930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199553

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,579,101		noncoding transcript	Het
Abr	T	A	11: 76,472,502	Q163L	probably benign	Het
AI314180	A	G	4: 58,832,729	L877S	probably damaging	Het
Ankrd11	C	A	8: 122,889,742	C2457F	probably damaging	Het
Anks3	G	C	16: 4,947,749	T163S	probably benign	Het
Cacna1d	G	A	14: 30,111,095	P908S	probably damaging	Het
Cdc45	G	T	16: 18,794,774	A348E	probably damaging	Het
Cfap46	A	G	7: 139,676,035	C300R	probably damaging	Het
Coq2	T	C	5: 100,663,685	N146S	probably benign	Het
Dalrd3	T	C	9: 108,572,215	V120A	possibly damaging	Het
Dcp2	T	A	18: 44,405,374		probably benign	Het
Ddx39	A	G	8: 83,720,622	K137R	possibly damaging	Het
Diaph3	A	G	14: 87,037,454		probably null	Het
Dmbt1	G	T	7: 131,119,496	R1668L	possibly damaging	Het
Dnah7a	T	G	1: 53,521,086		probably benign	Het
Dpp7	A	G	2: 25,356,095	Y49H	possibly damaging	Het
Drd5	A	G	5: 38,320,614	S317G	probably benign	Het
Ecsit	C	T	9: 22,076,288	V152I	probably benign	Het
Emc1	T	A	4: 139,375,163	M923K	possibly damaging	Het
Fam102a	G	A	2: 32,558,053	R58Q	possibly damaging	Het
Fcrl6	A	T	1: 172,598,753	L159Q	probably benign	Het
Frrs1	T	C	3: 116,885,297		probably benign	Het
Hspd1	A	G	1: 55,082,046		probably benign	Het
Impg2	T	A	16: 56,258,048	S458T	probably damaging	Het
Klf17	T	C	4: 117,760,392	Y256C	probably damaging	Het
Lnx2	A	G	5: 147,029,353	F319L	probably damaging	Het
Mafg	G	T	11: 120,629,604	R57S	probably damaging	Het
Med13l	T	A	5: 118,742,655	W1271R	probably damaging	Het
Mrgprb1	A	G	7: 48,447,214	S24P	probably benign	Het
Mtrf1l	T	C	10: 5,813,384	E315G	probably damaging	Het
Naip1	T	C	13: 100,411,001	E1239G	probably damaging	Het
Ncaph2	T	C	15: 89,369,664	S320P	probably damaging	Het
Nek11	A	G	9: 105,218,539		probably benign	Het
Nlrp2	A	T	7: 5,322,334		probably benign	Het
Odf3	C	A	7: 140,850,221		probably benign	Het
Rbm26	A	C	14: 105,152,540	V216G	possibly damaging	Het
Rnf115	A	G	3: 96,785,022	D178G	probably damaging	Het
Rtel1	C	T	2: 181,350,656	Q424*	probably null	Het
Rwdd4a	A	G	8: 47,537,365		probably benign	Het
Ryr3	T	C	2: 112,869,075	D890G	probably damaging	Het
Scarb1	C	A	5: 125,281,100		probably null	Het
Serpina10	A	G	12: 103,626,897		probably benign	Het
Slc12a5	T	A	2: 164,986,663	W508R	probably damaging	Het
Slc43a2	T	C	11: 75,562,850	C225R	probably damaging	Het
Slc6a9	T	C	4: 117,864,859	F440L	probably damaging	Het
Stac3	G	A	10: 127,508,148	R305H	probably damaging	Het
Stk32b	A	G	5: 37,459,596		probably benign	Het
Syna	A	T	5: 134,559,543	L184H	probably damaging	Het
Tmprss7	T	C	16: 45,673,939	N401S	probably damaging	Het
Yeats2	T	A	16: 20,193,724	Y557*	probably null	Het
Zcchc11	T	G	4: 108,527,004	S1089R	probably damaging	Het
Zfp352	T	C	4: 90,224,285	S221P	probably damaging	Het
Zfp575	A	G	7: 24,586,087	V43A	probably benign	Het
Zfp775	A	G	6: 48,620,772	T527A	probably benign	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
R0055:Ccdc146	UTSW	5	21297006	splice site	probably null
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
R8928:Ccdc146	UTSW	5	21333062	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGCTTGATACTGGGTCCTTTAG -3'
(R):5'- CCAACACACAAAAGTAGCTGATTTGGG -3'

Sequencing Primer
(F):5'- GCCAATCaaacaaaacaaaacaaaac -3'
(R):5'- CAAAAGTAGCTGATTTGGGTTTCAC -3'

Posted On

2014-05-20