Mutagenetix > Incidental Mutations

Incidental Mutation 'R6213:Ccdc13'

503574

Institutional Source

Beutler Lab

Gene Symbol

Ccdc13

Ensembl Gene

ENSMUSG00000079235

Gene Name

coiled-coil domain containing 13

Synonyms

MMRRC Submission

044346-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6213 (G1)

Quality Score

225.009

Status

Not 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: 99.2%
20x: 97.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,400,012	Y207H	probably damaging	Het
Adcy7	G	A	8: 88,314,137	V335M	probably damaging	Het
Apol11b	A	C	15: 77,638,000	D32E	possibly damaging	Het
Cdkn1b	T	A	6: 134,921,243	D108E	probably benign	Het
Cep290	A	G	10: 100,523,360	D984G	probably benign	Het
Csde1	T	C	3: 103,040,514	V128A	probably damaging	Het
Csmd3	A	G	15: 47,629,260	S3162P	probably damaging	Het
D5Ertd579e	G	A	5: 36,602,634	T1394I	probably damaging	Het
Ddx6	T	A	9: 44,628,693	L306Q	probably damaging	Het
Dmxl1	T	A	18: 49,863,015	S403T	possibly damaging	Het
F11	G	T	8: 45,241,500	T608K	probably damaging	Het
Flrt3	C	T	2: 140,661,165	R181H	probably damaging	Het
Hs3st1	A	T	5: 39,614,521	C260S	probably damaging	Het
Ighv7-1	A	T	12: 113,896,521	S84T	probably damaging	Het
Inpp4b	A	G	8: 81,997,390	D332G	probably damaging	Het
Irf2bpl	T	C	12: 86,883,593	Q102R	probably benign	Het
Itpr3	T	A	17: 27,111,200	D1597E	probably benign	Het
Kcnd1	G	C	X: 7,823,909	A23P	probably damaging	Homo
Lypd8	A	G	11: 58,390,334	T241A	probably benign	Het
Map1lc3a	T	C	2: 155,277,015		probably null	Het
Mast1	G	A	8: 84,915,569	T1052I	probably damaging	Het
Muc2	T	C	7: 141,751,414	C152R	probably damaging	Het
Muc5b	A	T	7: 141,862,166	M2950L	probably benign	Het
Muc5b	A	G	7: 141,867,619	D4282G	possibly damaging	Het
Myo16	G	T	8: 10,370,963		probably null	Het
Myo9a	T	A	9: 59,827,258	F708I	probably damaging	Het
Nadsyn1	A	T	7: 143,799,812	F558Y	probably benign	Het
Nat9	A	T	11: 115,185,106	W30R	probably damaging	Het
Nipbl	A	G	15: 8,334,906	L1338S	probably damaging	Het
Nipsnap3b	A	G	4: 53,017,066	T97A	probably benign	Het
Npepps	A	T	11: 97,241,997	Y301*	probably null	Het
Nrcam	C	T	12: 44,562,432	P447S	possibly damaging	Het
Olfr237-ps1	A	G	6: 43,153,887	N194S	possibly damaging	Het
Olfr295	A	G	7: 86,585,277	M1V	probably null	Het
Olfr547	T	C	7: 102,534,932	Y62H	probably damaging	Het
Olfr99	T	C	17: 37,280,373	S16G	probably benign	Het
Pacsin3	G	T	2: 91,260,434	V29F	probably damaging	Het
Pdzrn3	A	C	6: 101,377,844	D15E	probably damaging	Het
Phf20l1	T	C	15: 66,632,903		probably null	Het
Pign	A	C	1: 105,589,266	V545G	possibly damaging	Het
Pkhd1	T	C	1: 20,523,770	N1373S	possibly damaging	Het
Ptchd4	T	A	17: 42,377,360	H264Q	probably benign	Het
Ptpn3	G	T	4: 57,265,012	Q73K	probably damaging	Het
Ptrh1	G	A	2: 32,776,745	V109I	probably benign	Het
Reg1	A	T	6: 78,427,403	I87F	possibly damaging	Het
Rrp12	C	A	19: 41,868,778	V1186L	probably benign	Het
Sall1	AGTGGTGGTGGTGGTGGTGGTGG	AGTGGTGGTGGTGGTGGTGG	8: 89,033,058		probably benign	Het
Slc23a3	A	C	1: 75,131,748	F279V	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Suds3	A	G	5: 117,106,662	L115P	probably damaging	Het
Tekt2	G	A	4: 126,323,196	A260V	probably damaging	Het
Tgfb3	T	A	12: 86,057,847	Y391F	probably damaging	Het
Topbp1	T	C	9: 103,332,751	S866P	probably benign	Het
Tspan14	A	G	14: 40,913,415	Y175H	probably benign	Het
Vars2	T	C	17: 35,660,440	T568A	probably benign	Het
Vmn1r216	T	G	13: 23,099,169	D7E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Zfp281	T	C	1: 136,625,512	V76A	probably benign	Het
Zfp36l2	T	C	17: 84,186,552	N219S	probably damaging	Het
Zfp626	T	C	7: 27,808,292	M42T	probably benign	Het
Zscan21	C	T	5: 138,125,097	P13S	probably benign	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
R6212: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'- TTCACAGTACTGACCCAGAAGC -3'
(R):5'- ACACAGCTCTGCGATATGC -3'

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

Posted On

2018-02-27