Mutagenetix > Incidental Mutations

Incidental Mutation 'R6212:Ccdc13'

503515

Institutional Source

Beutler Lab

Gene Symbol

Ccdc13

Ensembl Gene

ENSMUSG00000079235

Gene Name

coiled-coil domain containing 13

Synonyms

MMRRC Submission

044345-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121797627-121839461 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 121798909 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000135986] [ENSMUST00000142783] [ENSMUST00000155511]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126851

Predicted Effect

probably benign
Transcript: ENSMUST00000135986

SMART Domains

Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235

Domain	Start	End	E-Value	Type
coiled coil region	19	46	N/A	INTRINSIC
coiled coil region	70	103	N/A	INTRINSIC
coiled coil region	139	178	N/A	INTRINSIC
coiled coil region	206	248	N/A	INTRINSIC
low complexity region	293	304	N/A	INTRINSIC
coiled coil region	323	370	N/A	INTRINSIC
coiled coil region	428	458	N/A	INTRINSIC
coiled coil region	550	604	N/A	INTRINSIC
coiled coil region	648	670	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140929

Predicted Effect

unknown
Transcript: ENSMUST00000142783
AA Change: L214P

SMART Domains

Protein: ENSMUSP00000130887
Gene: ENSMUSG00000079235
AA Change: L214P

Domain	Start	End	E-Value	Type
coiled coil region	68	122	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155511

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,573,282	I116N	probably damaging	Het
Ap3b1	T	C	13: 94,451,073	S452P	probably damaging	Het
Ap3b1	C	A	13: 94,493,699	H821N	unknown	Het
Apex1	C	T	14: 50,926,893	P264S	probably benign	Het
Arhgap27	T	C	11: 103,360,872	Y10C	probably damaging	Het
Bag6	A	G	17: 35,140,302	T208A	probably benign	Het
Brd4	G	T	17: 32,202,449	P771Q	probably damaging	Het
Capn3	A	G	2: 120,477,186	S69G	probably benign	Het
Celsr1	T	C	15: 85,916,687	H2519R	probably benign	Het
Chd8	T	A	14: 52,201,698	N48I	probably damaging	Het
Cmip	T	C	8: 117,377,156	Y128H	probably damaging	Het
Dnhd1	C	T	7: 105,704,048	P2803S	probably damaging	Het
Dusp26	G	A	8: 31,094,224	D120N	probably damaging	Het
Epha6	T	C	16: 60,425,356	H160R	possibly damaging	Het
Erg	C	T	16: 95,379,163	V215I	probably damaging	Het
Fam71f1	T	C	6: 29,319,374	L59P	probably damaging	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Gabbr2	T	C	4: 46,681,189	D124G	probably damaging	Het
Gapdh	T	C	6: 125,162,698	H203R	probably damaging	Het
Ggnbp2	T	C	11: 84,836,677	M42V	possibly damaging	Het
Hk2	C	A	6: 82,728,842	A827S	probably benign	Het
Hoxa5	T	C	6: 52,202,714	E227G	probably damaging	Het
Itgax	C	A	7: 128,130,332	H31N	possibly damaging	Het
Itgax	A	G	7: 128,147,853	D942G	probably benign	Het
Kars	A	T	8: 112,000,197		probably null	Het
Lama3	T	C	18: 12,513,645	F1739L	probably damaging	Het
Map2k1	A	T	9: 64,205,163	L155Q	probably damaging	Het
Mcf2l	A	T	8: 13,017,431	D1013V	probably damaging	Het
Mocs1	G	A	17: 49,435,196	G118S	probably damaging	Het
Ncam2	T	C	16: 81,432,762	S37P	probably damaging	Het
Nfxl1	A	G	5: 72,516,210		probably null	Het
Nodal	C	T	10: 61,423,521	H246Y	possibly damaging	Het
Nwd1	G	A	8: 72,695,322	V999M	possibly damaging	Het
Oaz3	T	A	3: 94,435,068	T139S	probably benign	Het
Olfr1347	T	C	7: 6,488,368		probably null	Het
Olfr58	A	G	9: 19,783,289	D52G	probably damaging	Het
P3h3	T	A	6: 124,845,643	T522S	probably benign	Het
Pgap1	A	G	1: 54,514,893	F457S	probably damaging	Het
Prkce	T	C	17: 86,559,301	Y530H	probably damaging	Het
Ptpn3	A	T	4: 57,270,070	C31S	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,579,909		probably benign	Het
Serpinb6e	T	A	13: 33,841,237	N24Y	probably damaging	Het
Slc4a8	T	C	15: 100,811,571	V937A	possibly damaging	Het
Smgc	T	A	15: 91,850,627		probably benign	Het
Srcap	T	A	7: 127,549,689	N2027K	probably damaging	Het
Stra6l	T	C	4: 45,884,664	Y565H	probably benign	Het
Tmem262	A	G	19: 6,080,638	E62G	possibly damaging	Het
Tnrc6a	T	A	7: 123,143,742		probably null	Het
Txlnb	T	C	10: 17,799,309	I70T	probably damaging	Het
Whrn	A	T	4: 63,494,686	L25*	probably null	Het
Zfp326	T	A	5: 105,910,231	V412E	probably damaging	Het
Zfp831	A	G	2: 174,645,868	R779G	possibly damaging	Het

Other mutations in Ccdc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Ccdc13	APN	9	121810084	splice site	probably benign
IGL01306:Ccdc13	APN	9	121827363	missense	probably benign	0.37
ANU23:Ccdc13	UTSW	9	121827363	missense	probably benign	0.37
R0112:Ccdc13	UTSW	9	121813481	missense	probably damaging	0.98
R0144:Ccdc13	UTSW	9	121827351	missense	probably damaging	0.98
R0360:Ccdc13	UTSW	9	121798216	missense	probably damaging	1.00
R0364:Ccdc13	UTSW	9	121798216	missense	probably damaging	1.00
R1441:Ccdc13	UTSW	9	121813449	missense	probably benign	0.44
R1674:Ccdc13	UTSW	9	121809142	missense	probably damaging	1.00
R1691:Ccdc13	UTSW	9	121825068	splice site	probably null
R1710:Ccdc13	UTSW	9	121819581	missense	probably damaging	1.00
R3821:Ccdc13	UTSW	9	121831019	missense	probably damaging	1.00
R3822:Ccdc13	UTSW	9	121831019	missense	probably damaging	1.00
R3962:Ccdc13	UTSW	9	121798939	intron	probably benign
R4695:Ccdc13	UTSW	9	121820760	missense	probably damaging	1.00
R4758:Ccdc13	UTSW	9	121833734	missense	possibly damaging	0.91
R5058:Ccdc13	UTSW	9	121817547	intron	probably benign
R5283:Ccdc13	UTSW	9	121808188	missense	probably damaging	1.00
R5436:Ccdc13	UTSW	9	121799043	missense	probably benign	0.06
R5601:Ccdc13	UTSW	9	121800572	nonsense	probably null
R5623:Ccdc13	UTSW	9	121833733	missense	probably damaging	0.99
R5653:Ccdc13	UTSW	9	121798787	makesense	probably null
R5665:Ccdc13	UTSW	9	121814290	missense	probably damaging	0.99
R5975:Ccdc13	UTSW	9	121827235	missense	probably benign	0.00
R6213:Ccdc13	UTSW	9	121798909	intron	probably benign
R6214:Ccdc13	UTSW	9	121798909	intron	probably benign
R6215:Ccdc13	UTSW	9	121798909	intron	probably benign
R6222:Ccdc13	UTSW	9	121798909	intron	probably benign
R6223:Ccdc13	UTSW	9	121798909	intron	probably benign
R6257:Ccdc13	UTSW	9	121798909	intron	probably benign
R7053:Ccdc13	UTSW	9	121833838	missense	probably damaging	0.97
R7664:Ccdc13	UTSW	9	121814213	missense	probably benign	0.01
R7909:Ccdc13	UTSW	9	121833860	missense	probably benign	0.01
R7943:Ccdc13	UTSW	9	121799130	missense	unknown
R8464:Ccdc13	UTSW	9	121820758	missense	probably damaging	0.98
RF006:Ccdc13	UTSW	9	121814207	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAACTACCCAGATTCCTAGTTTTG -3'
(R):5'- ACACAGCTCTGCGATATGCC -3'

Sequencing Primer
(F):5'- CACTGCTGAGTGCTGACATTACAG -3'
(R):5'- TCTGCGATATGCCCATGGAGTC -3'

Posted On

2018-02-27