Mutagenetix > Incidental Mutations

Incidental Mutation 'R8534:Ccdc187'

659137

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8534 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26243469-26294557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26275565 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 860 (S860P)

Ref Sequence

ENSEMBL: ENSMUSP00000054283 (fasta)

Gene Model

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

AlphaFold

Q8C5V8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057224
AA Change: S860P

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: S860P

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: S860P

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: S899P

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	C	2: 19,540,342	L100R	probably damaging	Het
4930430A15Rik	G	A	2: 111,228,035	P138S	possibly damaging	Het
6820408C15Rik	A	G	2: 152,441,262	D282G	probably damaging	Het
Abcb11	G	T	2: 69,323,846	N125K	possibly damaging	Het
Acbd7	A	T	2: 3,340,713	D71V	probably damaging	Het
Adgrb1	A	T	15: 74,543,508	T646S	probably damaging	Het
Adgrv1	A	G	13: 81,386,768	Y5793H	probably benign	Het
Agmo	A	G	12: 37,252,539	D125G	probably damaging	Het
Ahrr	A	G	13: 74,220,680	S125P	probably damaging	Het
B020011L13Rik	C	A	1: 117,801,304	H180Q	probably benign	Het
Cbfa2t3	T	C	8: 122,638,914	D219G	probably damaging	Het
Ceacam5	A	T	7: 17,750,746	Q471L	probably benign	Het
Cyp2c54	A	C	19: 40,047,586	D293E	probably damaging	Het
Dnah1	G	T	14: 31,301,848	N962K	probably benign	Het
Dst	C	T	1: 34,190,307	T2002I	probably benign	Het
Elavl1	A	T	8: 4,289,864	N239K	probably benign	Het
Elmod3	A	G	6: 72,566,684	F375L	probably benign	Het
G6pc2	T	A	2: 69,220,125	N31K	probably benign	Het
Ggnbp2	C	T	11: 84,837,989		probably null	Het
Gm6569	G	T	15: 73,839,824		probably benign	Het
Insig1	C	T	5: 28,075,118	S236L	probably damaging	Het
Itih4	A	T	14: 30,901,022	N882I	probably benign	Het
Kmt5a	C	A	5: 124,460,572	D309E	probably benign	Het
Kndc1	C	A	7: 139,923,753	T991N	probably benign	Het
Lingo1	T	A	9: 56,621,069	T79S	probably benign	Het
Myh4	A	T	11: 67,243,509	E330V	probably benign	Het
Nlrx1	A	G	9: 44,262,773	V377A	probably benign	Het
Npy5r	C	A	8: 66,682,036	G35V	probably benign	Het
Olfr1454	T	A	19: 13,064,068	I219N	probably damaging	Het
Olfr853	C	T	9: 19,537,309	G207D	possibly damaging	Het
Pabpn1l	T	C	8: 122,622,619	T20A	probably benign	Het
Pcf11	A	G	7: 92,653,224	V1226A	probably benign	Het
Per2	G	A	1: 91,423,937	T949M	probably benign	Het
Phc1	G	A	6: 122,338,580		probably benign	Het
Pias2	A	G	18: 77,097,387	I55V	possibly damaging	Het
Pik3r2	A	T	8: 70,774,668	S104T	probably benign	Het
Pip	T	C	6: 41,851,487	V85A	probably benign	Het
Pms2	T	C	5: 143,923,627	V86A	probably benign	Het
Rab44	A	G	17: 29,144,573		probably null	Het
Rrbp1	A	G	2: 143,988,175	S691P	probably damaging	Het
Ruvbl2	A	T	7: 45,429,694		probably null	Het
Setbp1	T	C	18: 78,783,327	D1357G	possibly damaging	Het
Slc12a6	T	A	2: 112,343,967	I476N	probably damaging	Het
Slc1a1	C	T	19: 28,905,346	P337S	probably damaging	Het
Slc35b3	T	A	13: 38,944,590	T174S	probably benign	Het
Slc4a4	A	T	5: 89,135,722	I467F	probably damaging	Het
Slc50a1	G	A	3: 89,270,403		probably null	Het
Spink14	G	A	18: 44,031,012		probably null	Het
Thegl	T	A	5: 77,059,478	I361N	probably damaging	Het
Tmem59	T	C	4: 107,185,885		probably null	Het
Tnr	G	A	1: 159,919,015	E1235K	probably benign	Het
Trpm6	A	T	19: 18,892,095	R2015S	probably benign	Het
Tsnaxip1	A	G	8: 105,838,738	E132G	probably damaging	Het
Vps54	A	G	11: 21,277,706	N93S	probably benign	Het
Wdr17	T	G	8: 54,648,230	I994L	probably benign	Het
Zfat	G	T	15: 68,165,847	H926Q	probably damaging	Het
Zfp2	C	T	11: 50,900,800	E139K	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
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
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'- GTCTGTGTCCTCTAGGCTAACAC -3'
(R):5'- TGGTGACAATAGCTGATGCTC -3'

Sequencing Primer
(F):5'- TGTGTCCTCTAGGCTAACACTAAGAC -3'
(R):5'- ACAGGCCATAGCTGTCTTG -3'

Posted On

2021-01-18