Mutagenetix > Incidental Mutations

Incidental Mutation 'ANU23:Ccdc13'

262643

Institutional Source

Beutler Lab

Gene Symbol

Ccdc13

Ensembl Gene

ENSMUSG00000079235

Gene Name

coiled-coil domain containing 13

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

ANU23

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121797627-121839461 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121827363 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 128 (M128K)

Ref Sequence

ENSEMBL: ENSMUSP00000114787 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135986
AA Change: M128K

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
AA Change: M128K

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: ENSMUST00000146716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152043

Coding Region Coverage

1x: 98.7%
3x: 98.2%
10x: 96.6%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	G	A	12: 70,169,048	G88S	probably damaging	Het
Acot10	A	G	15: 20,665,965	F230S	probably benign	Het
Akap12	G	T	10: 4,353,273	A28S	probably benign	Het
Anks1	C	A	17: 27,986,253	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,313,509	Y349H	possibly damaging	Het
Cacna1g	G	A	11: 94,466,228		probably benign	Het
Camsap2	T	A	1: 136,297,790	E199D	probably benign	Het
Ccdc38	T	C	10: 93,569,935		probably null	Het
Cep95	G	A	11: 106,813,815	V499I	probably benign	Het
Cpne6	G	C	14: 55,512,002	M6I	probably benign	Het
Cpne6	A	T	14: 55,515,249	I299F	probably damaging	Het
Cse1l	T	A	2: 166,927,508	Y278*	probably null	Het
Dip2c	A	G	13: 9,575,143	N558D	possibly damaging	Het
Edar	A	T	10: 58,628,638	C60S	probably damaging	Het
Fat2	T	C	11: 55,310,872	N459D	probably benign	Het
Fbxw8	C	T	5: 118,113,720	V243M	possibly damaging	Het
Fem1b	G	A	9: 62,797,528	A150V	possibly damaging	Het
Gm5422	A	T	10: 31,249,436		noncoding transcript	Het
Gpatch3	CAGGAGGAGGAGGAGGAG	CAGGAGGAGGAGGAG	4: 133,578,302		probably benign	Het
Grin2c	T	C	11: 115,256,194	T392A	probably benign	Het
Idh3a	T	A	9: 54,586,545		probably null	Het
Itpk1	T	C	12: 102,606,103	E117G	probably damaging	Het
Kif12	G	T	4: 63,165,884	P627Q	probably damaging	Het
Krtap15	T	A	16: 88,829,367	F88L	probably benign	Het
Mcm7	C	T	5: 138,170,391	V13I	probably benign	Het
Mlh1	T	C	9: 111,252,912	N248D	possibly damaging	Het
Olfr617	T	C	7: 103,584,693	Y224H	probably damaging	Het
Olfr727	A	G	14: 50,126,582	N2D	probably benign	Het
Olfr94	T	C	17: 37,196,942	N342S	probably benign	Het
Per2	T	C	1: 91,448,833	H106R	probably damaging	Het
Pfkl	T	A	10: 77,991,395	T486S	probably benign	Het
Prkdc	T	C	16: 15,667,731	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,609,422	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,154,665	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,183,995	A110E	probably benign	Het
Siglecf	T	A	7: 43,351,953	L115*	probably null	Het
Slc6a11	C	T	6: 114,134,665	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,946,587	K18*	probably null	Het
Spata1	A	T	3: 146,487,399	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,180,524	T440I	probably benign	Het
Vmn1r159	A	G	7: 22,843,163	V148A	probably damaging	Het
Wnt16	C	T	6: 22,297,935	R267C	probably damaging	Het
Xylt1	A	C	7: 117,548,890	S230R	probably benign	Het
Zfp334	T	C	2: 165,381,097	H342R	probably 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
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
R6212:Ccdc13	UTSW	9	121798909	intron	probably benign
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'- TGAAACTCCGTGTTCATCGCCC -3'
(R):5'- CTGCTCACTGAGGTTCATAGCTCAC -3'

Sequencing Primer
(F):5'- AAGACCTCCAAGTGTGGC -3'
(R):5'- gacttccaatccccctgcc -3'

Posted On

2015-02-04