Mutagenetix > Incidental Mutation

Incidental Mutation 'R5773:Ccdc186'

445537

Institutional Source

Beutler Lab

Gene Symbol

Ccdc186

Ensembl Gene

ENSMUSG00000035173

Gene Name

coiled-coil domain containing 186

Synonyms

1810028B20Rik, A630007B06Rik, Otg1

MMRRC Submission

043372-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56775913-56810622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56801919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 66 (D66G)

Ref Sequence

ENSEMBL: ENSMUSP00000113457 (fasta)

Gene Model

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

AlphaFold

Q8C9S4

Predicted Effect

probably benign
Transcript: ENSMUST00000076085
AA Change: D66G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000075454
Gene: ENSMUSG00000035173
AA Change: D66G

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 benign
Transcript: ENSMUST00000118592
AA Change: D66G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113457
Gene: ENSMUSG00000035173
AA Change: D66G

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

noncoding transcript
Transcript: ENSMUST00000140184

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,416,614 (GRCm39)		probably null	Het
Akna	C	T	4: 63,313,307 (GRCm39)	S272N	probably benign	Het
Ap2m1	T	C	16: 20,362,140 (GRCm39)	V416A	probably damaging	Het
Atp7b	A	G	8: 22,517,879 (GRCm39)	F320L	probably benign	Het
Brd1	T	C	15: 88,573,752 (GRCm39)	K1116E	probably benign	Het
Cdh4	A	G	2: 179,527,789 (GRCm39)	Y503C	probably damaging	Het
Cfb	C	A	17: 35,076,248 (GRCm39)	E166*	probably null	Het
Cmtm1	A	T	8: 105,031,808 (GRCm39)	F90I	probably damaging	Het
Col1a1	A	T	11: 94,830,255 (GRCm39)	K160N	probably benign	Het
Cradd	T	C	10: 95,011,823 (GRCm39)	I106V	probably benign	Het
Defa17	A	G	8: 22,146,574 (GRCm39)	R67G	probably damaging	Het
Dgkh	T	C	14: 78,832,895 (GRCm39)	N765S	probably damaging	Het
Dock5	A	G	14: 68,033,507 (GRCm39)	V954A	possibly damaging	Het
Eif2d	A	G	1: 131,086,040 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,004,040 (GRCm39)	F683I	probably damaging	Het
Fhad1	T	G	4: 141,656,881 (GRCm39)	K91T	probably damaging	Het
Fut11	A	T	14: 20,748,383 (GRCm39)	D476V	probably damaging	Het
Gldn	T	C	9: 54,241,775 (GRCm39)		probably null	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gm8674	T	A	13: 50,055,912 (GRCm39)		noncoding transcript	Het
Gtpbp6	C	A	5: 110,254,757 (GRCm39)	E168D	possibly damaging	Het
Hinfp	T	A	9: 44,210,533 (GRCm39)	H163L	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Ing3	T	A	6: 21,971,834 (GRCm39)	C368S	probably damaging	Het
Itih1	A	G	14: 30,657,356 (GRCm39)	V489A	possibly damaging	Het
Itsn2	T	C	12: 4,757,089 (GRCm39)	L1393P	probably damaging	Het
Kcnj13	T	C	1: 87,314,389 (GRCm39)	T278A	probably damaging	Het
Kntc1	G	A	5: 123,932,220 (GRCm39)	R1338Q	probably damaging	Het
Lipi	T	A	16: 75,370,813 (GRCm39)	T135S	probably damaging	Het
Map7	A	G	10: 20,122,390 (GRCm39)	K152R	probably benign	Het
Mmp24	A	G	2: 155,641,829 (GRCm39)	Y219C	probably damaging	Het
Nup188	T	C	2: 30,212,208 (GRCm39)	V565A	possibly damaging	Het
Nup210	T	C	6: 91,062,865 (GRCm39)	K265E	probably damaging	Het
Or10ak9	A	G	4: 118,726,718 (GRCm39)	T247A	probably damaging	Het
Pcdha6	A	T	18: 37,102,643 (GRCm39)	H612L	probably benign	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pld2	G	T	11: 70,446,758 (GRCm39)	S778I	probably damaging	Het
Ppef2	A	C	5: 92,398,420 (GRCm39)	Y33D	probably damaging	Het
Ppfibp2	A	T	7: 107,285,079 (GRCm39)	T129S	possibly damaging	Het
Prickle1	G	T	15: 93,406,478 (GRCm39)	H182N	probably damaging	Het
R3hdm2	T	A	10: 127,280,172 (GRCm39)		probably benign	Het
Rbm12b1	A	T	4: 12,145,765 (GRCm39)	E579V	probably damaging	Het
Rsf1	GGC	GGCGGCGGCTGC	7: 97,229,140 (GRCm39)		probably benign	Het
Slc1a6	T	G	10: 78,629,111 (GRCm39)		probably null	Het
Slc27a6	G	T	18: 58,715,245 (GRCm39)	A283S	probably damaging	Het
Spats2l	T	A	1: 57,918,708 (GRCm39)	N27K	possibly damaging	Het
Srgap1	T	C	10: 121,732,614 (GRCm39)	M155V	probably benign	Het
Stxbp5l	C	A	16: 37,028,459 (GRCm39)	A535S	probably damaging	Het
Svep1	C	A	4: 58,099,985 (GRCm39)	C1353F	possibly damaging	Het
Taar4	T	A	10: 23,837,056 (GRCm39)	I222N	probably damaging	Het
Tlr6	A	G	5: 65,111,846 (GRCm39)	F354L	probably benign	Het
Trp53bp1	A	G	2: 121,074,395 (GRCm39)	S452P	probably damaging	Het
Ttll5	GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC	G	12: 85,980,329 (GRCm39)		probably null	Het
Usp42	A	T	5: 143,699,467 (GRCm39)	M1264K	probably benign	Het
Zfp865	A	T	7: 5,037,693 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,334,511 (GRCm39)	L169Q	probably damaging	Het
Zmym4	A	T	4: 126,799,163 (GRCm39)	N383K	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
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
R6908:Ccdc186	UTSW	19	56,780,371 (GRCm39)	critical splice donor site	probably null
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'- GTGCAGATGACTTTAACTCTGC -3'
(R):5'- TGCAAAGTGAATTGGTGCCAG -3'

Sequencing Primer
(F):5'- GATGACTTTAACTCTGCCAGTATCTG -3'
(R):5'- TGCCAGTCAGCATGTCAGAGAC -3'

Posted On

2016-11-21