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

1810028B20Rik, A630007B06Rik, Otg1

MMRRC Submission

045000-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6908 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56775913-56810622 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 56780371 bp (GRCm39)

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: 56,477,668 (GRCm39)	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,047,707 (GRCm39)		probably null	Het
B3glct	T	C	5: 149,619,941 (GRCm39)		probably null	Het
Bbs9	T	G	9: 22,479,019 (GRCm39)	I154S	probably damaging	Het
Brip1	T	C	11: 85,968,710 (GRCm39)	Y825C	probably damaging	Het
Celf6	T	C	9: 59,511,106 (GRCm39)	V349A	probably benign	Het
Chd9	A	G	8: 91,683,044 (GRCm39)	T495A	probably benign	Het
Cxxc1	G	A	18: 74,353,630 (GRCm39)	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,992,268 (GRCm39)	V223A	probably damaging	Het
Dlc1	A	G	8: 37,404,841 (GRCm39)	F316S	probably benign	Het
Dnajc12	C	A	10: 63,233,104 (GRCm39)	Q82K	probably benign	Het
Dock8	G	A	19: 25,165,746 (GRCm39)	E1877K	probably damaging	Het
Epha3	T	G	16: 63,418,612 (GRCm39)	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,402,701 (GRCm39)	C220F	probably damaging	Het
Fryl	A	G	5: 73,179,554 (GRCm39)	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,368,898 (GRCm39)	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,476,741 (GRCm39)	N77D	probably benign	Het
Ints13	A	T	6: 146,456,531 (GRCm39)	D438E	probably damaging	Het
Itgb6	C	T	2: 60,480,365 (GRCm39)	V324M	probably benign	Het
Kdm7a	G	T	6: 39,121,373 (GRCm39)	L861M	possibly damaging	Het
Kirrel3	A	G	9: 34,924,697 (GRCm39)	T302A	possibly damaging	Het
Lama2	A	T	10: 26,907,192 (GRCm39)		probably null	Het
Lrp2	A	T	2: 69,302,709 (GRCm39)	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Mastl	T	C	2: 23,045,988 (GRCm39)		probably benign	Het
Mcf2l	T	C	8: 13,068,919 (GRCm39)	V1087A	probably benign	Het
Mcmdc2	C	A	1: 10,001,003 (GRCm39)		probably null	Het
Ms4a3	A	G	19: 11,615,659 (GRCm39)	I39T	probably damaging	Het
Mylk	T	G	16: 34,700,643 (GRCm39)	C495G	probably benign	Het
Myo10	A	G	15: 25,804,469 (GRCm39)	D1588G	probably damaging	Het
Myo15a	A	T	11: 60,396,832 (GRCm39)	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,108,122 (GRCm39)	I460V	probably benign	Het
Nmt1	T	G	11: 102,949,080 (GRCm39)	S312A	possibly damaging	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or2d4	T	C	7: 106,543,839 (GRCm39)	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,996,222 (GRCm39)	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,429,577 (GRCm39)	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,140,885 (GRCm39)	I559T	probably damaging	Het
Plec	G	A	15: 76,070,081 (GRCm39)	Q806*	probably null	Het
Prss51	C	T	14: 64,333,601 (GRCm39)	A70V	probably benign	Het
Psd3	A	T	8: 68,416,829 (GRCm39)	I356K	probably benign	Het
Ptprn2	A	T	12: 116,852,508 (GRCm39)	I522F	probably benign	Het
Rab39	T	C	9: 53,617,369 (GRCm39)	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,033,112 (GRCm39)	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,011,370 (GRCm39)	D238E	probably benign	Het
Ripor2	G	A	13: 24,890,215 (GRCm39)	G697S	probably damaging	Het
Scn11a	A	T	9: 119,621,492 (GRCm39)	F642I	probably damaging	Het
Serinc4	G	A	2: 121,284,086 (GRCm39)	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Slc36a3	T	C	11: 55,040,712 (GRCm39)		probably benign	Het
Smc1b	A	G	15: 84,991,211 (GRCm39)	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,340,776 (GRCm39)	S455P	probably damaging	Het
Ttn	C	A	2: 76,720,202 (GRCm39)		probably benign	Het
Tyw5	T	C	1: 57,440,682 (GRCm39)	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,990,400 (GRCm39)	T97A	possibly damaging	Het

Other mutations in Ccdc186

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Ccdc186	APN	19	56,801,879 (GRCm39)	missense	probably benign	0.18
IGL00976:Ccdc186	APN	19	56,785,932 (GRCm39)	missense	probably damaging	1.00
IGL01146:Ccdc186	APN	19	56,797,749 (GRCm39)	missense	probably damaging	1.00
IGL01316:Ccdc186	APN	19	56,801,845 (GRCm39)	missense	probably benign	0.01
IGL01627:Ccdc186	APN	19	56,780,452 (GRCm39)	missense	probably damaging	1.00
IGL02325:Ccdc186	APN	19	56,801,788 (GRCm39)	missense	probably benign	0.03
IGL02755:Ccdc186	APN	19	56,801,828 (GRCm39)	missense	probably benign	0.06
IGL02899:Ccdc186	APN	19	56,781,920 (GRCm39)	missense	probably benign	0.00
IGL03408:Ccdc186	APN	19	56,787,163 (GRCm39)	missense	probably benign	0.00
receding	UTSW	19	56,788,561 (GRCm39)	missense	probably damaging	1.00
R1256:Ccdc186	UTSW	19	56,786,053 (GRCm39)	missense	probably benign	0.20
R1728:Ccdc186	UTSW	19	56,797,652 (GRCm39)	missense	probably benign	0.04
R1729:Ccdc186	UTSW	19	56,797,652 (GRCm39)	missense	probably benign	0.04
R1784:Ccdc186	UTSW	19	56,797,652 (GRCm39)	missense	probably benign	0.04
R1813:Ccdc186	UTSW	19	56,788,601 (GRCm39)	missense	probably benign	0.03
R1909:Ccdc186	UTSW	19	56,781,793 (GRCm39)	missense	probably damaging	1.00
R2110:Ccdc186	UTSW	19	56,788,574 (GRCm39)	missense	possibly damaging	0.80
R2319:Ccdc186	UTSW	19	56,785,999 (GRCm39)	missense	possibly damaging	0.50
R2351:Ccdc186	UTSW	19	56,787,129 (GRCm39)	missense	possibly damaging	0.89
R2970:Ccdc186	UTSW	19	56,795,430 (GRCm39)	missense	probably damaging	1.00
R4159:Ccdc186	UTSW	19	56,781,924 (GRCm39)	nonsense	probably null
R4898:Ccdc186	UTSW	19	56,790,432 (GRCm39)	splice site	probably null
R4910:Ccdc186	UTSW	19	56,787,123 (GRCm39)	missense	probably damaging	0.98
R5325:Ccdc186	UTSW	19	56,801,613 (GRCm39)	missense	probably damaging	0.99
R5338:Ccdc186	UTSW	19	56,801,689 (GRCm39)	missense	possibly damaging	0.87
R5662:Ccdc186	UTSW	19	56,781,920 (GRCm39)	missense	probably benign
R5773:Ccdc186	UTSW	19	56,801,919 (GRCm39)	missense	probably benign	0.06
R6621:Ccdc186	UTSW	19	56,801,919 (GRCm39)	missense	probably benign	0.06
R6806:Ccdc186	UTSW	19	56,788,561 (GRCm39)	missense	probably damaging	1.00
R6977:Ccdc186	UTSW	19	56,787,219 (GRCm39)	missense	probably benign	0.05
R7108:Ccdc186	UTSW	19	56,787,192 (GRCm39)	missense	probably damaging	1.00
R7190:Ccdc186	UTSW	19	56,780,432 (GRCm39)	missense	probably damaging	1.00
R7407:Ccdc186	UTSW	19	56,801,817 (GRCm39)	missense	probably benign	0.00
R7408:Ccdc186	UTSW	19	56,796,610 (GRCm39)	missense	probably damaging	1.00
R7437:Ccdc186	UTSW	19	56,795,429 (GRCm39)	missense	probably damaging	1.00
R8219:Ccdc186	UTSW	19	56,781,777 (GRCm39)	missense	probably benign	0.42
R8422:Ccdc186	UTSW	19	56,801,617 (GRCm39)	missense	probably benign	0.26
R8537:Ccdc186	UTSW	19	56,798,677 (GRCm39)	missense	probably damaging	1.00
R8777:Ccdc186	UTSW	19	56,801,793 (GRCm39)	missense	probably damaging	0.98
R8777-TAIL:Ccdc186	UTSW	19	56,801,793 (GRCm39)	missense	probably damaging	0.98
R9510:Ccdc186	UTSW	19	56,802,016 (GRCm39)	missense	probably benign	0.00
RF014:Ccdc186	UTSW	19	56,801,904 (GRCm39)	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