Mutagenetix > Incidental Mutation

Incidental Mutation 'R6908:Ccdc186'

538900

Institutional Source

Beutler Lab

Gene Symbol

Ccdc186

Ensembl Gene

ENSMUSG00000035173

Gene Name

coiled-coil domain containing 186

Synonyms

Otg1, A630007B06Rik, 1810028B20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6908 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56787481-56822190 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 56791939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076085] [ENSMUST00000118592]

AlphaFold

Q8C9S4

Predicted Effect

probably null
Transcript: ENSMUST00000076085

SMART Domains

Protein: ENSMUSP00000075454
Gene: ENSMUSG00000035173

Domain	Start	End	E-Value	Type
internal_repeat_1	7	104	8.63e-6	PROSPERO
internal_repeat_1	119	216	8.63e-6	PROSPERO
low complexity region	252	264	N/A	INTRINSIC
low complexity region	426	447	N/A	INTRINSIC
low complexity region	527	538	N/A	INTRINSIC
low complexity region	619	631	N/A	INTRINSIC
low complexity region	641	651	N/A	INTRINSIC
low complexity region	656	670	N/A	INTRINSIC
Blast:SPEC	671	799	1e-37	BLAST
coiled coil region	874	913	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118592

SMART Domains

Protein: ENSMUSP00000113457
Gene: ENSMUSG00000035173

Domain	Start	End	E-Value	Type
internal_repeat_1	7	104	8.63e-6	PROSPERO
internal_repeat_1	119	216	8.63e-6	PROSPERO
low complexity region	252	264	N/A	INTRINSIC
low complexity region	426	447	N/A	INTRINSIC
low complexity region	527	538	N/A	INTRINSIC
low complexity region	619	631	N/A	INTRINSIC
low complexity region	641	651	N/A	INTRINSIC
low complexity region	656	670	N/A	INTRINSIC
Blast:SPEC	671	799	1e-37	BLAST
coiled coil region	874	913	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000135666

SMART Domains

Protein: ENSMUSP00000122539
Gene: ENSMUSG00000035173

Domain	Start	End	E-Value	Type
Blast:SPEC	2	75	2e-15	BLAST
coiled coil region	149	188	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,657,305	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,448,535		probably null	Het
B3glct	T	C	5: 149,696,476		probably null	Het
Bbs9	T	G	9: 22,567,723	I154S	probably damaging	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Celf6	T	C	9: 59,603,823	V349A	probably benign	Het
Chd9	A	G	8: 90,956,416	T495A	probably benign	Het
Cxxc1	G	A	18: 74,220,559	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,859,215	V223A	probably damaging	Het
Dlc1	A	G	8: 36,937,687	F316S	probably benign	Het
Dnajc12	C	A	10: 63,397,325	Q82K	probably benign	Het
Dock8	G	A	19: 25,188,382	E1877K	probably damaging	Het
Epha3	T	G	16: 63,598,249	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,182,439	C220F	probably damaging	Het
Fryl	A	G	5: 73,022,211	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,221,032	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,827,534	N77D	probably benign	Het
Ints13	A	T	6: 146,555,033	D438E	probably damaging	Het
Itgb6	C	T	2: 60,650,021	V324M	probably benign	Het
Kdm7a	G	T	6: 39,144,439	L861M	possibly damaging	Het
Kirrel3	A	G	9: 35,013,401	T302A	possibly damaging	Het
Lama2	A	T	10: 27,031,196		probably null	Het
Lrp2	A	T	2: 69,472,365	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Mastl	T	C	2: 23,155,976		probably benign	Het
Mcf2l	T	C	8: 13,018,919	V1087A	probably benign	Het
Mcmdc2	C	A	1: 9,930,778		probably null	Het
Ms4a3	A	G	19: 11,638,295	I39T	probably damaging	Het
Mylk	T	G	16: 34,880,273	C495G	probably benign	Het
Myo10	A	G	15: 25,804,383	D1588G	probably damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,217,296	I460V	probably benign	Het
Nmt1	T	G	11: 103,058,254	S312A	possibly damaging	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr710	T	C	7: 106,944,632	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,791,224	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,296,524	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,152,446	I559T	probably damaging	Het
Plec	G	A	15: 76,185,881	Q806*	probably null	Het
Prss51	C	T	14: 64,096,152	A70V	probably benign	Het
Psd3	A	T	8: 67,964,177	I356K	probably benign	Het
Ptprn2	A	T	12: 116,888,888	I522F	probably benign	Het
Rab39	T	C	9: 53,706,069	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,143,100	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,104,063	D238E	probably benign	Het
Ripor2	G	A	13: 24,706,232	G697S	probably damaging	Het
Scn11a	A	T	9: 119,792,426	F642I	probably damaging	Het
Serinc4	G	A	2: 121,453,605	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 127,021,626		probably benign	Het
Slc36a3	T	C	11: 55,149,886		probably benign	Het
Smc1b	A	G	15: 85,107,010	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,352,332	S455P	probably damaging	Het
Ttn	C	A	2: 76,889,858		probably benign	Het
Tyw5	T	C	1: 57,401,523	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,806,230	T97A	possibly damaging	Het

Other mutations in Ccdc186

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Ccdc186	APN	19	56813447	missense	probably benign	0.18
IGL00976:Ccdc186	APN	19	56797500	missense	probably damaging	1.00
IGL01146:Ccdc186	APN	19	56809317	missense	probably damaging	1.00
IGL01316:Ccdc186	APN	19	56813413	missense	probably benign	0.01
IGL01627:Ccdc186	APN	19	56792020	missense	probably damaging	1.00
IGL02325:Ccdc186	APN	19	56813356	missense	probably benign	0.03
IGL02755:Ccdc186	APN	19	56813396	missense	probably benign	0.06
IGL02899:Ccdc186	APN	19	56793488	missense	probably benign	0.00
IGL03408:Ccdc186	APN	19	56798731	missense	probably benign	0.00
receding	UTSW	19	56800129	missense	probably damaging	1.00
R1256:Ccdc186	UTSW	19	56797621	missense	probably benign	0.20
R1728:Ccdc186	UTSW	19	56809220	missense	probably benign	0.04
R1729:Ccdc186	UTSW	19	56809220	missense	probably benign	0.04
R1784:Ccdc186	UTSW	19	56809220	missense	probably benign	0.04
R1813:Ccdc186	UTSW	19	56800169	missense	probably benign	0.03
R1909:Ccdc186	UTSW	19	56793361	missense	probably damaging	1.00
R2110:Ccdc186	UTSW	19	56800142	missense	possibly damaging	0.80
R2319:Ccdc186	UTSW	19	56797567	missense	possibly damaging	0.50
R2351:Ccdc186	UTSW	19	56798697	missense	possibly damaging	0.89
R2970:Ccdc186	UTSW	19	56806998	missense	probably damaging	1.00
R4159:Ccdc186	UTSW	19	56793492	nonsense	probably null
R4898:Ccdc186	UTSW	19	56802000	splice site	probably null
R4910:Ccdc186	UTSW	19	56798691	missense	probably damaging	0.98
R5325:Ccdc186	UTSW	19	56813181	missense	probably damaging	0.99
R5338:Ccdc186	UTSW	19	56813257	missense	possibly damaging	0.87
R5662:Ccdc186	UTSW	19	56793488	missense	probably benign
R5773:Ccdc186	UTSW	19	56813487	missense	probably benign	0.06
R6621:Ccdc186	UTSW	19	56813487	missense	probably benign	0.06
R6806:Ccdc186	UTSW	19	56800129	missense	probably damaging	1.00
R6977:Ccdc186	UTSW	19	56798787	missense	probably benign	0.05
R7108:Ccdc186	UTSW	19	56798760	missense	probably damaging	1.00
R7190:Ccdc186	UTSW	19	56792000	missense	probably damaging	1.00
R7407:Ccdc186	UTSW	19	56813385	missense	probably benign	0.00
R7408:Ccdc186	UTSW	19	56808178	missense	probably damaging	1.00
R7437:Ccdc186	UTSW	19	56806997	missense	probably damaging	1.00
R8219:Ccdc186	UTSW	19	56793345	missense	probably benign	0.42
R8422:Ccdc186	UTSW	19	56813185	missense	probably benign	0.26
R8537:Ccdc186	UTSW	19	56810245	missense	probably damaging	1.00
R8777:Ccdc186	UTSW	19	56813361	missense	probably damaging	0.98
R8777-TAIL:Ccdc186	UTSW	19	56813361	missense	probably damaging	0.98
R9510:Ccdc186	UTSW	19	56813584	missense	probably benign	0.00
RF014:Ccdc186	UTSW	19	56813472	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGTACCAAGACACCCTGTACTAG -3'
(R):5'- AGGCACACTTTCCTCAGAAGC -3'

Sequencing Primer
(F):5'- GGTTAAGAGAACTGACTGCTCTTCC -3'
(R):5'- GAAGCATCTGATTTTAACAAAGTGC -3'

Posted On

2018-11-06