Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01111:Ccdc13'

51943

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01111

Quality Score

Status

Chromosome

Chromosomal Location

121797627-121839461 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 121810084 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

probably benign
Transcript: ENSMUST00000142783

SMART Domains

Protein: ENSMUSP00000130887
Gene: ENSMUSG00000079235

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155511

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	T	2: 130,736,598	D655E	possibly damaging	Het
Ammecr1l	T	A	18: 31,772,070	Y121*	probably null	Het
Apc	C	T	18: 34,315,136	T1661I	possibly damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cpt1c	T	C	7: 44,965,554	H325R	possibly damaging	Het
Cyp2a22	T	C	7: 26,936,458	K227E	probably damaging	Het
Ddx10	T	C	9: 53,159,948	K682E	possibly damaging	Het
Dlg2	T	C	7: 91,449,763	Y123H	possibly damaging	Het
Dnah11	A	T	12: 118,142,934		probably benign	Het
Dpysl2	T	C	14: 66,834,232	E153G	probably damaging	Het
Edrf1	T	A	7: 133,658,553	Y64*	probably null	Het
Ephb2	A	T	4: 136,657,410	S897T	probably benign	Het
Flt1	A	G	5: 147,578,336	I1092T	probably damaging	Het
Gabra4	T	C	5: 71,633,629	Y290C	probably damaging	Het
Gm853	T	A	4: 130,221,725	D10V	probably benign	Het
Hectd2	A	T	19: 36,597,120	H67L	probably damaging	Het
Itgb2	T	C	10: 77,542,000	L11P	probably damaging	Het
Jmy	T	C	13: 93,441,021	R880G	probably damaging	Het
Klhl2	A	G	8: 64,749,047	C532R	probably damaging	Het
Kpna1	A	G	16: 36,012,889		probably benign	Het
L3mbtl2	T	C	15: 81,684,898	V591A	possibly damaging	Het
Lepr	A	T	4: 101,814,655	N959Y	possibly damaging	Het
Man1a	A	T	10: 53,977,013		probably benign	Het
Mov10	A	T	3: 104,801,405	S431T	possibly damaging	Het
Mx2	A	T	16: 97,558,719	Q563L	probably benign	Het
Nrap	A	T	19: 56,345,558	Y874N	probably damaging	Het
Nup160	T	C	2: 90,733,209	I1373T	probably benign	Het
Nwd2	A	T	5: 63,807,300	D1409V	probably damaging	Het
Obsl1	A	T	1: 75,497,145	V744E	possibly damaging	Het
Olfr630	T	A	7: 103,755,373	T71S	probably benign	Het
Pgap1	T	C	1: 54,530,943	K315R	probably benign	Het
Rab8a	T	C	8: 72,175,856	V114A	probably damaging	Het
Sh2d6	T	C	6: 72,519,829	T73A	probably benign	Het
Shroom1	A	G	11: 53,464,048	E265G	probably damaging	Het
Slc8b1	G	A	5: 120,532,935	V529M	probably damaging	Het
Srbd1	G	T	17: 86,098,533	A613E	probably benign	Het
Stat1	G	A	1: 52,142,961		probably null	Het
Tbck	A	G	3: 132,694,407	H73R	probably damaging	Het
Thg1l	A	T	11: 45,948,224	D220E	probably damaging	Het
Ttn	C	T	2: 76,778,323	G16037D	probably damaging	Het
Unc13b	A	G	4: 43,096,927	E100G	possibly damaging	Het
Vmn2r81	T	A	10: 79,247,997	D68E	probably benign	Het
Xpo6	T	C	7: 126,129,568	T505A	probably benign	Het
Zfp976	T	C	7: 42,616,287	K25E	probably damaging	Het

Other mutations in Ccdc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
RF006:Ccdc13	UTSW	9	121814207	missense	probably damaging	1.00

Posted On

2013-06-21