Mutagenetix > Incidental Mutations

Incidental Mutation 'R5653:Ccdc13'

442115

Institutional Source

Beutler Lab

Gene Symbol

Ccdc13

Ensembl Gene

ENSMUSG00000079235

Gene Name

coiled-coil domain containing 13

Synonyms

MMRRC Submission

043299-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121797627-121839461 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 121798787 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 255 (*255R)

Ref Sequence

ENSEMBL: ENSMUSP00000130887 (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 null
Transcript: ENSMUST00000142783
AA Change: *255R

SMART Domains

Protein: ENSMUSP00000130887
Gene: ENSMUSG00000079235
AA Change: *255R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155511

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	T	C	5: 35,883,412	L663P	probably damaging	Het
Atp10d	A	T	5: 72,264,067	Q682L	probably benign	Het
Atp8b1	A	G	18: 64,545,197	V876A	probably damaging	Het
Bard1	A	T	1: 71,031,429	V632E	probably benign	Het
Baz1b	A	T	5: 135,209,097	E209V	probably benign	Het
Bmp1	T	A	14: 70,490,094	Y683F	probably benign	Het
Cacnb1	A	T	11: 98,009,279		probably null	Het
Capza2	G	A	6: 17,654,113	A55T	probably damaging	Het
Cc2d2a	A	G	5: 43,722,462	N1127S	possibly damaging	Het
Ddias	G	T	7: 92,858,729	N659K	probably damaging	Het
Ddr1	C	T	17: 35,686,508	A531T	probably benign	Het
Dnah9	T	C	11: 65,849,980	T4127A	probably damaging	Het
Dnajc10	T	A	2: 80,349,368	Y749N	probably damaging	Het
Dnm1l	A	G	16: 16,319,489	L422P	probably damaging	Het
Edil3	A	T	13: 89,131,812	N203I	probably damaging	Het
Egfr	C	T	11: 16,911,617	A1132V	probably benign	Het
Entpd7	C	T	19: 43,691,157	R50*	probably null	Het
Fam160a1	A	T	3: 85,722,501	L40Q	probably damaging	Het
Fat2	T	C	11: 55,310,316	D644G	probably damaging	Het
Galnt11	T	A	5: 25,248,858	D27E	probably damaging	Het
Gm10801	T	A	2: 98,664,051	F158I	probably damaging	Het
Gm37240	A	G	3: 84,497,795	F234L	probably damaging	Het
Gtf2ird1	A	T	5: 134,410,967	F136L	probably damaging	Het
Hspa1l	T	C	17: 34,977,420	V145A	probably damaging	Het
Ice2	A	G	9: 69,428,380	T882A	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kat6b	A	G	14: 21,669,372	N1264S	probably benign	Het
Kcnq4	C	A	4: 120,702,411	V531L	probably benign	Het
Kif9	A	T	9: 110,524,931	K790N	probably damaging	Het
Lipe	T	A	7: 25,398,408	I37L	probably benign	Het
Lrrc43	A	G	5: 123,499,580	D270G	probably damaging	Het
Mon2	A	G	10: 123,026,094	Y782H	probably damaging	Het
Mrpl52	T	C	14: 54,427,229	S49P	probably damaging	Het
Olfr132	T	A	17: 38,131,184	T3S	possibly damaging	Het
Olfr177	A	G	16: 58,872,484	L222P	probably damaging	Het
Olfr318	G	A	11: 58,720,251	H266Y	probably damaging	Het
Olfr477	A	T	7: 107,990,385	T7S	probably benign	Het
Park2	C	T	17: 11,237,649	A119V	probably damaging	Het
Pcbp2	C	T	15: 102,487,089	A141V	probably damaging	Het
Pcsk9	T	A	4: 106,458,916	Y110F	probably damaging	Het
Plxna4	A	G	6: 32,517,616	S22P	possibly damaging	Het
Polq	T	A	16: 37,040,534	L506Q	probably damaging	Het
Prx	C	T	7: 27,517,604	P510L	probably damaging	Het
Ptpre	T	C	7: 135,653,943	F54L	probably damaging	Het
Rspry1	T	G	8: 94,636,611		probably null	Het
Tnfrsf11b	A	T	15: 54,259,866	L113Q	probably damaging	Het
Tnk1	C	T	11: 69,853,585	G411S	probably damaging	Het
Tor3a	A	G	1: 156,656,510	L290S	probably damaging	Het
Tril	T	C	6: 53,817,985	T751A	probably benign	Het
Tubgcp6	C	T	15: 89,108,612	V547I	possibly damaging	Het
Txnrd3	T	C	6: 89,654,085	L121P	probably benign	Het
Vmn1r210	T	A	13: 22,827,208	R303*	probably null	Het
Vmn2r38	T	C	7: 9,097,765	M1V	probably null	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
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'- AGCCTATTCACAGTACTGACCC -3'
(R):5'- TCTGGAAAGGGTAGAGACTCC -3'

Sequencing Primer
(F):5'- ACAGGATTGTATGTTTCCCAGGC -3'
(R):5'- TCCTGGATGGAGGCTTCC -3'

Posted On

2016-11-09