Mutagenetix > Incidental Mutations

Incidental Mutation 'R5283:Ccdc13'

402882

Institutional Source

Beutler Lab

Gene Symbol

Ccdc13

Ensembl Gene

ENSMUSG00000079235

Gene Name

coiled-coil domain containing 13

Synonyms

MMRRC Submission

042868-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5283 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121797627-121839461 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121808188 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 75 (D75V)

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 damaging
Transcript: ENSMUST00000135986
AA Change: D557V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
AA Change: D557V

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 damaging
Transcript: ENSMUST00000142783
AA Change: D75V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130887
Gene: ENSMUSG00000079235
AA Change: D75V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000155511
AA Change: D81V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	C	T	1: 93,159,853	D93N	probably benign	Het
Aamp	C	T	1: 74,284,006	E53K	possibly damaging	Het
Amotl1	T	C	9: 14,558,484	E651G	probably damaging	Het
Ankrd11	A	C	8: 122,884,182	V2655G	probably damaging	Het
Apbb1ip	G	A	2: 22,867,671	V434M	probably benign	Het
Atp5h	T	C	11: 115,415,785	Y150C	probably damaging	Het
BC117090	T	C	16: 36,321,843	D57G	probably damaging	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Crh	T	C	3: 19,694,007	H157R	probably damaging	Het
Dpp4	G	A	2: 62,360,336	T392I	probably damaging	Het
Ehd3	G	T	17: 73,820,503	A144S	probably benign	Het
Fnip2	A	T	3: 79,465,708	I1021N	probably damaging	Het
Fus	T	A	7: 127,985,547		probably benign	Het
Glo1	T	C	17: 30,600,073	T92A	probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm15130	A	C	2: 111,135,409	M165R	unknown	Het
Gm9573	A	G	17: 35,621,332		probably benign	Het
Gon4l	T	C	3: 88,887,590	L700P	probably damaging	Het
Grm1	C	A	10: 10,733,192	D566Y	possibly damaging	Het
Guca1b	T	C	17: 47,391,270		probably benign	Het
Has3	A	G	8: 106,874,115	M70V	probably damaging	Het
Hydin	G	T	8: 110,451,980	C1069F	possibly damaging	Het
Ints1	A	C	5: 139,764,382	L920R	probably damaging	Het
Kdm2a	T	C	19: 4,331,269	I54V	probably benign	Het
Kpna2	G	A	11: 106,990,832	T324I	probably damaging	Het
Lrr1	T	C	12: 69,174,654	L190S	probably damaging	Het
Lrrc49	A	T	9: 60,687,178	H16Q	probably benign	Het
Mapkap1	A	G	2: 34,444,348	E147G	probably damaging	Het
Mrpl2	C	T	17: 46,649,066	R219W	possibly damaging	Het
Ndc80	A	G	17: 71,521,135	S66P	probably benign	Het
Notch1	A	G	2: 26,468,626	Y1398H	probably damaging	Het
Olfml2b	C	T	1: 170,681,189	R539*	probably null	Het
Olfr6	T	A	7: 106,956,748	T63S	probably benign	Het
Pde7a	T	C	3: 19,260,256	T59A	probably damaging	Het
Plekhg1	G	A	10: 3,956,654	V524I	probably benign	Het
Plin4	T	A	17: 56,106,777	M283L	probably benign	Het
Prp2	C	T	6: 132,600,643	P298S	unknown	Het
Rap1gap2	G	A	11: 74,395,825	R550C	probably damaging	Het
Reln	G	A	5: 22,011,163	T1008I	probably damaging	Het
Rffl	T	C	11: 82,812,789	K103E	probably damaging	Het
Rmnd5b	A	T	11: 51,627,060	F156I	probably damaging	Het
Rtn4ip1	T	C	10: 43,902,465	I68T	probably damaging	Het
Samhd1	T	C	2: 157,109,492	I442V	possibly damaging	Het
Slc12a4	A	T	8: 105,950,694		probably null	Het
Slc35b1	G	T	11: 95,384,988		probably benign	Het
Ssh1	A	G	5: 113,950,545	V354A	probably damaging	Het
Stk33	T	C	7: 109,336,127	K153E	possibly damaging	Het
Stk4	C	T	2: 164,110,279	R19*	probably null	Het
Tas2r136	A	T	6: 132,777,411	I251N	probably damaging	Het
Tbr1	A	T	2: 61,804,900	T65S	probably benign	Het
Tkt	C	T	14: 30,560,618	S124F	probably damaging	Het
Tll1	T	C	8: 64,101,966	I228V	possibly damaging	Het
Tmem236	A	G	2: 14,174,833	I82V	probably benign	Het
Vmn2r110	T	C	17: 20,580,637	Q511R	probably benign	Het
Vmn2r98	T	C	17: 19,080,719	M661T	probably benign	Het
Vps13a	T	A	19: 16,677,970	K1898I	probably damaging	Het
Zc3h12a	T	C	4: 125,126,765	E95G	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
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

Predicted Primers

PCR Primer
(F):5'- GGAAGATGGTTACATTTGACAGAGC -3'
(R):5'- ACCTCTGAGTTTCCCAGTGC -3'

Sequencing Primer
(F):5'- AATCTCCTTGAATTTGCCTGAGTG -3'
(R):5'- AGTGCCTCCTGCCATTGTATG -3'

Posted On

2016-07-22