Mutagenetix > Incidental Mutations

Incidental Mutation 'R6217:Ccdc146'

503773

Institutional Source

Beutler Lab

Gene Symbol

Ccdc146

Ensembl Gene

ENSMUSG00000064280

Gene Name

coiled-coil domain containing 146

Synonyms

4930528G09Rik

MMRRC Submission

044350-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21292961-21424677 bp(-) (GRCm38)

Type of Mutation

splice site (84 bp from exon)

DNA Base Change (assembly)

A to T at 21317902 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110900 (fasta)

Gene Model

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

Predicted Effect

probably null
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

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

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	G	A	6: 40,926,085	P118S	possibly damaging	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
Adamts20	T	C	15: 94,338,715	D808G	probably benign	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arsk	T	A	13: 76,091,816	Q46L	unknown	Het
Asnsd1	A	G	1: 53,348,028	F147L	probably benign	Het
Atp5a1	T	A	18: 77,781,356	S427T	probably benign	Het
Atp6v1b2	A	C	8: 69,109,878		probably null	Het
AU021092	T	A	16: 5,212,186	T322S	possibly damaging	Het
Bcl7c	A	T	7: 127,708,526	M1K	probably null	Het
Cacna1i	T	C	15: 80,389,132	V1673A	probably damaging	Het
Cdc7	A	G	5: 106,972,794	D122G	probably damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,638,900		probably benign	Het
Chd3	T	A	11: 69,345,535	Q1950L	probably damaging	Het
Cutc	T	C	19: 43,759,997	L111S	probably damaging	Het
Cyp2j6	A	G	4: 96,518,161	F458L	probably damaging	Het
Ddhd1	T	C	14: 45,619,514		probably null	Het
Dstyk	T	C	1: 132,459,939	S804P	probably damaging	Het
Ech1	A	G	7: 28,831,836	D283G	possibly damaging	Het
Exosc10	A	G	4: 148,582,311		probably null	Het
Fam160b2	T	C	14: 70,591,758		probably null	Het
Fancg	A	C	4: 43,010,084	V5G	probably benign	Het
Fbxo11	A	G	17: 88,008,904	V394A	probably benign	Het
Fcmr	C	T	1: 130,878,323	R339W	probably damaging	Het
Fsip2	T	A	2: 82,988,418	L4832M	possibly damaging	Het
Gab1	A	G	8: 80,791,608	V125A	possibly damaging	Het
Gabrr1	A	T	4: 33,149,026		probably null	Het
Gon4l	T	C	3: 88,892,661	V871A	possibly damaging	Het
Hspg2	A	G	4: 137,540,248	T2056A	probably damaging	Het
Lrrc3	T	A	10: 77,901,009	T198S	probably benign	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Ltbr	C	T	6: 125,307,454	V342M	probably damaging	Het
Muc16	A	T	9: 18,655,446	S1926T	unknown	Het
Ntn1	C	A	11: 68,213,332	V497F	possibly damaging	Het
Olfr181	T	C	16: 58,926,514	D19G	probably benign	Het
Olfr700	A	T	7: 106,806,072	L130Q	probably damaging	Het
Olfr936	A	T	9: 39,046,743	*270R	probably null	Het
Osmr	T	C	15: 6,823,566	Y615C	probably damaging	Het
Pcdhgb2	T	C	18: 37,690,001	V15A	possibly damaging	Het
Pkd2l2	A	G	18: 34,414,680	N162S	probably benign	Het
Ppp1r12a	G	A	10: 108,240,184		probably null	Het
Prtg	C	T	9: 72,904,794	P899S	probably damaging	Het
Ptprn	A	T	1: 75,248,166	S912R	probably damaging	Het
Rex2	A	G	4: 147,057,474	T140A	possibly damaging	Het
Ryr2	T	G	13: 11,834,078	D339A	probably damaging	Het
Sf3b1	C	T	1: 55,007,518	R289H	probably damaging	Het
Slc17a9	A	G	2: 180,737,662	D309G	probably benign	Het
Slc4a10	A	G	2: 62,303,951	R1004G	probably benign	Het
Sprr2f	A	T	3: 92,366,059	Q55L	unknown	Het
Syne1	C	T	10: 5,293,761	G2801D	probably benign	Het
Tenm3	A	T	8: 48,293,665	V1026D	probably damaging	Het
Ticam1	A	T	17: 56,270,730	I455N	probably damaging	Het
Tmem161b	A	G	13: 84,251,244	I6M	possibly damaging	Het
Ubn1	A	G	16: 5,077,232	E714G	probably damaging	Het
Ush2a	T	G	1: 188,743,454		probably null	Het
Usp19	G	A	9: 108,500,144	V874M	probably damaging	Het
Vmn2r106	T	C	17: 20,268,239	T633A	probably benign	Het
Vmn2r75	A	T	7: 86,166,167		probably benign	Het
Zfyve27	T	C	19: 42,189,577	V386A	probably damaging	Het
Zscan20	A	T	4: 128,604,534	W24R	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
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
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

PCR Primer
(F):5'- ACTGATTGGCAAGTGTCTGAATTAC -3'
(R):5'- GGCAAGCGAACCTTACTAGAAG -3'

Sequencing Primer
(F):5'- GCATATTTCAGCAATATAGTTCCCC -3'
(R):5'- GCGAACCTTACTAGAAGTCAAAG -3'

Posted On

2018-02-27