Mutagenetix > Incidental Mutation

Incidental Mutation 'R5601:Ccdc13'

439027

Institutional Source

Beutler Lab

Gene Symbol

Ccdc13

Ensembl Gene

ENSMUSG00000079235

Gene Name

coiled-coil domain containing 13

Synonyms

MMRRC Submission

043153-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R5601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121797627-121839461 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 121800572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 114 (Q114*)

Ref Sequence

ENSEMBL: ENSMUSP00000130887 (fasta)

Gene Model

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

AlphaFold

D3YV10

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126851

Predicted Effect

probably null
Transcript: ENSMUST00000135986
AA Change: Q596*

SMART Domains

Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
AA Change: Q596*

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: Q114*

SMART Domains

Protein: ENSMUSP00000130887
Gene: ENSMUSG00000079235
AA Change: Q114*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155511

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	G	A	13: 91,782,910	V426I	probably benign	Het
Asmt	T	C	X: 170,676,392	V212A	probably damaging	Het
Atn1	A	G	6: 124,743,228		probably null	Het
Auts2	G	T	5: 131,476,823		probably benign	Het
AW551984	C	T	9: 39,591,267	V672M	possibly damaging	Het
Ces2e	A	T	8: 104,929,494	I146F	probably benign	Het
Cfap44	A	G	16: 44,460,186	K1443E	probably damaging	Het
Cma2	T	A	14: 55,973,789	H179Q	possibly damaging	Het
Cpsf2	G	T	12: 101,985,355		probably null	Het
Cwh43	A	G	5: 73,417,940		probably null	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
Dram1	A	G	10: 88,324,767	S231P	probably damaging	Het
Fbxw7	A	G	3: 84,976,208	D482G	probably damaging	Het
Fstl1	T	C	16: 37,826,799	I177T	probably benign	Het
Fut9	T	C	4: 25,620,299	T172A	probably benign	Het
Gm10436	T	C	12: 88,176,047	D267G	probably damaging	Het
Gm5134	G	A	10: 75,985,952	V207M	probably damaging	Het
Hccs	G	A	X: 169,313,601	R203C	probably damaging	Het
Hmgxb3	A	T	18: 61,137,622	F877I	probably damaging	Het
Ide	A	G	19: 37,314,980	V272A	unknown	Het
Impact	C	T	18: 12,976,007	T65I	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Muc3	A	G	5: 137,138,015	S309P	probably damaging	Het
Myf6	A	C	10: 107,494,614	S31A	probably damaging	Het
Olfr733	C	A	14: 50,298,861	W149C	probably damaging	Het
Olfr881	C	G	9: 37,992,714	T74R	possibly damaging	Het
P4hb	T	A	11: 120,571,615	E88D	possibly damaging	Het
Pcdhb9	T	C	18: 37,402,206	C418R	probably damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,893,123		probably null	Het
Prss58	A	T	6: 40,897,849	N19K	possibly damaging	Het
Ptprq	C	T	10: 107,608,430	A1438T	probably benign	Het
Rfx4	A	T	10: 84,798,578	T61S	probably damaging	Het
Sclt1	T	A	3: 41,730,919	N35Y	probably benign	Het
Sec24b	CTG	CTGGTG	3: 130,040,834		probably benign	Het
Serpinb12	T	C	1: 106,953,697	I188T	probably damaging	Het
Slc27a4	A	T	2: 29,805,660	Y69F	probably benign	Het
Slc3a1	T	C	17: 85,032,891	V247A	probably benign	Het
Slc4a2	C	T	5: 24,438,774	T854I	probably benign	Het
Stat5b	G	A	11: 100,783,175	T761M	probably damaging	Het
Stkld1	T	C	2: 26,952,705	L563P	probably damaging	Het
Tbc1d23	C	A	16: 57,198,309	C283F	probably benign	Het
Tcaf3	T	C	6: 42,587,528	N900S	possibly damaging	Het
Tkfc	T	C	19: 10,594,563	T370A	probably benign	Het
Tpr	T	C	1: 150,435,853	V1868A	possibly damaging	Het
Triobp	T	A	15: 78,973,633	W1145R	probably damaging	Het
Uhrf1bp1	C	A	17: 27,884,494	A392D	probably damaging	Het
Vmn2r82	T	G	10: 79,396,191	L675V	probably damaging	Het
Zfp423	T	C	8: 87,782,009	E444G	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
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
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
R8827:Ccdc13	UTSW	9	121816699	missense	probably benign	0.09
R9445:Ccdc13	UTSW	9	121798090	missense	probably benign	0.01
RF006:Ccdc13	UTSW	9	121814207	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGACACCTTTTGGGACC -3'
(R):5'- GCTACCACCTCCATAGTGTGTC -3'

Sequencing Primer
(F):5'- ACATGGGGCAAGAAGTCCTCC -3'
(R):5'- CCATAGTGTGTCTACCACTGTGG -3'

Posted On

2016-10-26