Mutagenetix > Incidental Mutations

Incidental Mutation 'R9214:Ccdc187'

699040

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

Accession Numbers

Is this an essential gene?

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

Stock #

R9214 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26243469-26294557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26293397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 197 (T197K)

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: T197K

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: T197K

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: T197K

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: T197K

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,983,369	D352G	probably benign	Het
4933416C03Rik	T	C	10: 116,112,998	T208A	probably benign	Het
5430419D17Rik	C	T	7: 131,222,752	S192L	possibly damaging	Het
Abi1	A	T	2: 22,941,977	Y447*	probably null	Het
Acot1	A	G	12: 84,017,415	Y124C		Het
Adgrf4	T	C	17: 42,667,813	N213S	possibly damaging	Het
Alg9	T	A	9: 50,806,245	Y443N	probably damaging	Het
Bhlhe22	A	G	3: 18,054,860	T25A	probably benign	Het
Bpifa1	C	A	2: 154,143,869	P35T	unknown	Het
Btbd16	T	C	7: 130,779,707		probably null	Het
Cd209b	A	G	8: 3,918,771	V295A	probably benign	Het
Clrn2	G	T	5: 45,460,176	A130S	probably benign	Het
Cnrip1	A	G	11: 17,054,740	T97A	probably damaging	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Col6a5	T	C	9: 105,881,741	T2089A	possibly damaging	Het
Cyfip1	T	A	7: 55,873,525		probably null	Het
Ddx1	A	G	12: 13,236,118	S278P	probably benign	Het
Dnah12	A	C	14: 26,723,905	E654D	probably benign	Het
Efcab7	T	C	4: 99,878,235	S154P	probably damaging	Het
Emcn	T	C	3: 137,341,268	F10S	probably damaging	Het
Fam160b1	A	G	19: 57,385,324	H672R	probably damaging	Het
Flg2	G	T	3: 93,203,577	A971S	unknown	Het
Gli2	A	T	1: 118,868,061	H121Q	probably damaging	Het
Gm3633	A	G	14: 42,638,402		probably benign	Het
Gm4869	G	A	5: 140,482,502	R649Q	probably benign	Het
Gm9573	T	A	17: 35,620,946	S783C	unknown	Het
Golga2	T	C	2: 32,305,810	L846P	probably damaging	Het
Golga7b	A	T	19: 42,267,001	I106F	probably damaging	Het
Hltf	T	C	3: 20,086,116	S460P	probably benign	Het
Hyal5	A	G	6: 24,876,404	Y92C	probably damaging	Het
Mapk1	T	A	16: 17,035,685	C84S	probably benign	Het
March10	A	G	11: 105,390,274	V395A	probably benign	Het
Meltf	A	G	16: 31,878,945	T7A	probably benign	Het
Mfhas1	T	A	8: 35,590,576	V735D	probably damaging	Het
Mia2	G	T	12: 59,176,364	R486L	possibly damaging	Het
Mmp20	T	C	9: 7,628,326	L25P	probably benign	Het
Mprip	C	T	11: 59,760,075	T1535I	possibly damaging	Het
Mrpl9	T	A	3: 94,447,819	S233T	possibly damaging	Het
Nckap5	A	C	1: 126,014,639	V1576G	probably benign	Het
Ntng1	T	C	3: 109,934,605	Y284C	probably damaging	Het
Numa1	T	A	7: 102,000,932	V1290D	probably damaging	Het
Olfr685	T	G	7: 105,180,380	Y326S	probably benign	Het
Pcdhgc4	A	T	18: 37,817,211	D560V	probably damaging	Het
Pla2g1b	A	G	5: 115,472,048	K84E	possibly damaging	Het
Pramef25	T	C	4: 143,949,180	I359V	probably benign	Het
Prrt4	C	T	6: 29,170,768	A562T	possibly damaging	Het
Rab6a	T	C	7: 100,626,579	F33S	probably damaging	Het
Rgs11	A	G	17: 26,208,286	Y397C	probably damaging	Het
Rnf43	A	T	11: 87,731,285	H277L	probably benign	Het
Ryr1	A	G	7: 29,085,762	S1842P	possibly damaging	Het
Slc25a34	C	T	4: 141,623,330	A123T	probably damaging	Het
Smoc2	A	G	17: 14,336,577	Y96C	probably damaging	Het
Sqle	A	G	15: 59,322,916	E267G	probably benign	Het
Sspo	G	A	6: 48,463,935	R1777H	possibly damaging	Het
Stx6	T	A	1: 155,191,464	N133K	probably benign	Het
Thoc5	A	T	11: 4,914,303	Q320L	probably benign	Het
Tmc4	G	C	7: 3,667,498	C531W	probably damaging	Het
Tmigd1	A	G	11: 76,910,205	T173A	probably damaging	Het
Tpp2	A	C	1: 43,992,354	M1111L	probably benign	Het
Ttc21a	T	C	9: 119,943,875	V206A	probably benign	Het
Ulk1	A	T	5: 110,788,797	V758E	possibly damaging	Het
Vdr	T	A	15: 97,869,719	H130L	probably benign	Het
Vps13b	A	G	15: 35,623,746	T1270A	probably damaging	Het
Zc3h13	A	G	14: 75,323,551	D527G	unknown	Het
Zfp512	C	T	5: 31,480,090	R508W	probably damaging	Het
Zfp606	A	G	7: 12,481,099	T85A	unknown	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
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
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'- AGCATCTTCACCCTAAATTCAGCTC -3'
(R):5'- TTTCTCATGGGCCCTGGAAG -3'

Sequencing Primer
(F):5'- TCTTCACCCTAAATTCAGCTCAGAAG -3'
(R):5'- GGAAAGGCCACCCCTGATACTG -3'

Posted On

2022-02-07