Mutagenetix > Incidental Mutations

Incidental Mutation 'R5537:Ccdc187'

434858

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

MMRRC Submission

043095-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5537 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26243469-26294557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26276225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 731 (A731S)

Ref Sequence

ENSEMBL: ENSMUSP00000054283 (fasta)

Gene Model

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

AlphaFold

Q8C5V8

Predicted Effect

probably benign
Transcript: ENSMUST00000057224
AA Change: A731S

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: A731S

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: A731S

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: A770S

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,955,485	I1123F	probably damaging	Het
Acsl3	C	T	1: 78,706,356	R702C	probably damaging	Het
Ank1	A	G	8: 23,114,876	E1031G	probably damaging	Het
Ankle2	T	C	5: 110,249,495	S536P	probably damaging	Het
Arfgef2	G	T	2: 166,856,593		probably null	Het
Bahd1	G	T	2: 118,915,980	D27Y	probably damaging	Het
Brinp2	C	T	1: 158,255,013	V246I	probably damaging	Het
Cdc37l1	T	A	19: 28,995,118	N70K	probably damaging	Het
Cdk5r1	A	G	11: 80,477,999	Y164C	probably damaging	Het
Clrn3	A	T	7: 135,514,062	H186Q	probably benign	Het
Col12a1	G	A	9: 79,699,590	T517I	probably damaging	Het
Crhr1	T	A	11: 104,163,856	N98K	possibly damaging	Het
Dst	C	T	1: 34,189,878	S2362L	probably benign	Het
Eapp	G	A	12: 54,692,059	T98I	probably benign	Het
Gm8394	A	G	10: 85,314,049		noncoding transcript	Het
Iqsec3	T	C	6: 121,412,644		probably benign	Het
Kctd12	A	G	14: 102,982,277	V55A	probably benign	Het
Kmt2d	G	A	15: 98,852,109		probably benign	Het
Lgr5	T	C	10: 115,456,689	D432G	probably benign	Het
Mrgprx1	T	A	7: 48,021,150	H283L	probably benign	Het
Nlrp4e	T	C	7: 23,320,489	F134L	probably benign	Het
Olfr1030	T	A	2: 85,984,226	Y129N	possibly damaging	Het
Olfr1307	A	T	2: 111,945,048	M136K	probably damaging	Het
Olfr394	T	C	11: 73,887,697	K225R	probably benign	Het
Olfr902	T	A	9: 38,449,242	Y123*	probably null	Het
Pfkp	C	A	13: 6,619,242	W235L	probably damaging	Het
Prom1	C	T	5: 44,000,776		probably null	Het
Rab14	A	T	2: 35,192,637	F12L	possibly damaging	Het
Rnf40	T	A	7: 127,596,089	I429N	probably benign	Het
S100pbp	G	A	4: 129,182,188	P115S	probably benign	Het
Scarf1	G	A	11: 75,525,531	A600T	probably damaging	Het
Slc6a5	T	C	7: 49,959,311	F755L	probably benign	Het
Slc7a2	A	T	8: 40,913,986	I510F	probably benign	Het
Spag16	T	C	1: 69,827,016	S5P	probably benign	Het
Tex15	A	G	8: 33,571,613	Y631C	probably damaging	Het
Tmem182	A	T	1: 40,854,909	I195F	probably benign	Het
Tox	A	G	4: 6,697,510	L431P	probably damaging	Het
Tprn	G	A	2: 25,263,357	A224T	probably benign	Het
Tsg101	T	C	7: 46,891,128	K294E	probably benign	Het
Tubb2a	C	A	13: 34,075,451	V119L	probably benign	Het
Vps37d	C	T	5: 135,074,402	E129K	possibly damaging	Het
Zfp974	TAATCTGTCTCCAAATCTG	TAATCTG	7: 27,912,246		probably benign	Het
Zpld1	A	G	16: 55,233,640	V263A	possibly damaging	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
R1226:Ccdc187	UTSW	2	26276121	missense	probably damaging	0.99
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
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
Z1176:Ccdc187	UTSW	2	26281507	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGTGAATCCACCAAGTCCCG -3'
(R):5'- AAACCGTGGAACCGCATTG -3'

Sequencing Primer
(F):5'- TCCCGGGGACTTTCTCTG -3'
(R):5'- TGGAACCGCATTGAGACC -3'

Posted On

2016-10-24