Mutagenetix > Incidental Mutations

Incidental Mutation 'R1226:Ccdc187'

152214

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

MMRRC Submission

039295-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R1226 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26243469-26294557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26276121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 765 (S765R)

Ref Sequence

ENSEMBL: ENSMUSP00000054283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057224] [ENSMUST00000217256] [ENSMUST00000227200]

AlphaFold

Q8C5V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000057224
AA Change: S765R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: S765R

Domain	Start	End	E-Value	Type
low complexity region	116	132	N/A	INTRINSIC
low complexity region	536	557	N/A	INTRINSIC
coiled coil region	605	632	N/A	INTRINSIC
coiled coil region	717	745	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000217256
AA Change: S765R

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: S804R

Coding Region Coverage

1x: 99.3%
3x: 98.4%
10x: 96.3%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Abcd2	G	T	15: 91,191,043	A189E	probably benign	Het
Ahcy	T	C	2: 155,064,897	T159A	probably benign	Het
Arfgef2	T	C	2: 166,827,640	V84A	probably damaging	Het
Brwd1	G	A	16: 96,031,548	T1036M	probably benign	Het
Ccdc173	A	G	2: 69,787,209	M76T	possibly damaging	Het
Chd1l	G	A	3: 97,562,625	R862*	probably null	Het
Crmp1	A	G	5: 37,273,434	D71G	probably damaging	Het
Ctif	CTGTGTCCGGTGT	CTGT	18: 75,521,579		probably benign	Het
Ctsb	A	C	14: 63,141,740	Y267S	probably damaging	Het
Cyp4a12b	T	A	4: 115,432,967	I239N	possibly damaging	Het
Dna2	T	C	10: 62,960,424	V544A	possibly damaging	Het
Dnhd1	T	A	7: 105,696,899	F2364Y	probably damaging	Het
Fsip2	A	T	2: 82,981,011	E2558V	probably damaging	Het
Gm10061	A	C	16: 89,151,281	Y48S	unknown	Het
Herc1	T	A	9: 66,416,263	M1353K	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lin7a	T	C	10: 107,271,919	V20A	probably benign	Het
Lsr	T	A	7: 30,971,883	I142F	probably damaging	Het
Mei1	C	T	15: 82,080,084	T275I	possibly damaging	Het
Mon2	A	G	10: 123,002,819	V1593A	probably benign	Het
Mrpl32	A	G	13: 14,611,511	I74T	probably benign	Het
Nek11	C	T	9: 105,392,892	V44I	probably damaging	Het
Noa1	A	G	5: 77,307,555	V438A	possibly damaging	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Olfr262	A	C	19: 12,241,586	I25R	probably benign	Het
Olfr828	C	T	9: 18,815,970	C108Y	probably benign	Het
Pcdhb17	T	C	18: 37,487,260	L701P	probably damaging	Het
Pde11a	G	A	2: 76,158,354	S481L	probably benign	Het
Prkdc	T	C	16: 15,673,997	I602T	possibly damaging	Het
Ptprh	T	A	7: 4,603,092	R3*	probably null	Het
Reln	A	G	5: 21,910,866	L3048P	probably damaging	Het
Slc6a11	T	A	6: 114,194,663	I265N	possibly damaging	Het
Sorbs2	T	C	8: 45,795,619	S636P	probably damaging	Het
Supt5	T	C	7: 28,328,747	I44V	probably benign	Het
Tdrd6	T	A	17: 43,626,632	E1175V	possibly damaging	Het
Tnxb	A	C	17: 34,688,929	T1316P	probably damaging	Het
Ufc1	A	C	1: 171,289,237	D119E	probably benign	Het
Vmn1r220	A	G	13: 23,184,124	F134S	probably damaging	Het
Zfp106	A	G	2: 120,524,079	S1404P	probably damaging	Het
Zfp866	A	G	8: 69,766,290	F227L	probably damaging	Het
Zfyve28	A	T	5: 34,217,064	H535Q	probably benign	Het

Other mutations in Ccdc187

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Ccdc187	APN	2	26280948	missense	probably benign
IGL02989:Ccdc187	APN	2	26276431	missense	possibly damaging	0.92
IGL03017:Ccdc187	APN	2	26280966	missense	probably benign
IGL03059:Ccdc187	APN	2	26294241	missense	probably null	1.00
IGL03117:Ccdc187	APN	2	26287968	missense	possibly damaging	0.95
R0026:Ccdc187	UTSW	2	26281353	missense	probably benign	0.00
R0144:Ccdc187	UTSW	2	26276203	missense	probably damaging	0.98
R1078:Ccdc187	UTSW	2	26294377	missense	probably damaging	0.98
R1624:Ccdc187	UTSW	2	26281075	missense	probably benign
R1733:Ccdc187	UTSW	2	26293658	missense	possibly damaging	0.93
R1851:Ccdc187	UTSW	2	26276068	missense	probably benign	0.17
R2304:Ccdc187	UTSW	2	26281017	missense	possibly damaging	0.94
R4278:Ccdc187	UTSW	2	26282227	intron	probably benign
R4344:Ccdc187	UTSW	2	26280669	missense	probably damaging	1.00
R5151:Ccdc187	UTSW	2	26293439	missense	probably damaging	1.00
R5416:Ccdc187	UTSW	2	26276092	missense	possibly damaging	0.87
R5537:Ccdc187	UTSW	2	26276225	missense	probably benign	0.32
R5761:Ccdc187	UTSW	2	26276092	missense	possibly damaging	0.87
R5762:Ccdc187	UTSW	2	26276092	missense	possibly damaging	0.87
R5865:Ccdc187	UTSW	2	26293368	missense	probably benign	0.00
R5925:Ccdc187	UTSW	2	26293581	missense	probably benign
R6261:Ccdc187	UTSW	2	26276203	missense	probably damaging	0.98
R6803:Ccdc187	UTSW	2	26289779	missense	probably benign	0.02
R6888:Ccdc187	UTSW	2	26289734	missense	probably damaging	0.98
R6958:Ccdc187	UTSW	2	26289719	missense	probably benign
R7006:Ccdc187	UTSW	2	26281090	missense	probably benign	0.05
R7358:Ccdc187	UTSW	2	26255995	missense	probably damaging	0.97
R7818:Ccdc187	UTSW	2	26276174	missense	possibly damaging	0.61
R8048:Ccdc187	UTSW	2	26293514	missense	possibly damaging	0.53
R8327:Ccdc187	UTSW	2	26280618	missense	probably benign	0.01
R8353:Ccdc187	UTSW	2	26276446	missense	probably damaging	0.99
R8425:Ccdc187	UTSW	2	26281536	missense	probably damaging	0.99
R8453:Ccdc187	UTSW	2	26276446	missense	probably damaging	0.99
R8461:Ccdc187	UTSW	2	26293802	missense	probably damaging	0.99
R8534:Ccdc187	UTSW	2	26275565	missense	possibly damaging	0.61
R8694:Ccdc187	UTSW	2	26275493	missense	probably benign	0.02
R8745:Ccdc187	UTSW	2	26280514	missense	probably damaging	0.99
R8958:Ccdc187	UTSW	2	26275565	missense	probably benign	0.02
R8972:Ccdc187	UTSW	2	26281067	missense	probably benign
R9214:Ccdc187	UTSW	2	26293397	missense	probably benign	0.19
R9454:Ccdc187	UTSW	2	26276102	missense	possibly damaging	0.94
Z1176:Ccdc187	UTSW	2	26281507	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACAGGCATGACACCCATTGTCC -3'
(R):5'- TCCTGCACTTCCAGTACAAGCAAG -3'

Sequencing Primer
(F):5'- CTTTCAATGTGGGTCCCCAGG -3'
(R):5'- TCAGGCAACGTGTTGACA -3'

Posted On

2014-01-29