Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03059:Ccdc187'

409386

Institutional Source

Australian Phenomics Network (link to record)

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: 0.077) question?

Stock #

IGL03059

Quality Score

Status

Chromosome

Chromosomal Location

26243469-26294557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26294241 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Methionine at position 48 (R48M)

Ref Sequence

ENSEMBL: ENSMUSP00000054283 (fasta)

Gene Model

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

AlphaFold

Q8C5V8

Predicted Effect

probably null
Transcript: ENSMUST00000057224
AA Change: R48M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: R48M

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

probably null
Transcript: ENSMUST00000217256
AA Change: R48M

Predicted Effect

probably null
Transcript: ENSMUST00000227200
AA Change: R48M

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsg	T	C	16: 22,899,005	V244A	possibly damaging	Het
Cnga2	G	A	X: 72,008,272	R251H	probably damaging	Het
Cop1	A	C	1: 159,306,709	K174Q	probably damaging	Het
Cul9	T	C	17: 46,538,987	D512G	probably damaging	Het
Flt4	G	A	11: 49,642,307	A1140T	probably damaging	Het
Galnt3	C	T	2: 66,093,610	R438H	probably damaging	Het
Gatm	G	A	2: 122,609,700	A86V	probably damaging	Het
Klhl28	C	T	12: 64,951,566	A385T	probably benign	Het
Klhl40	T	A	9: 121,778,137	V121E	probably damaging	Het
L1cam	T	A	X: 73,867,024	H30L	probably benign	Het
Lss	A	T	10: 76,532,026		probably benign	Het
Mrnip	A	T	11: 50,199,769	Q253H	probably damaging	Het
Mroh9	A	T	1: 163,024,636	F828Y	possibly damaging	Het
Mst1	T	C	9: 108,084,813	C668R	probably damaging	Het
Nadk	A	G	4: 155,586,796	E143G	probably benign	Het
Nap1l4	C	T	7: 143,527,165		probably null	Het
Nme8	A	G	13: 19,652,244	I254T	possibly damaging	Het
Olfr1382	A	G	11: 49,535,194	Y3C	probably benign	Het
Olfr295	A	G	7: 86,585,571	I99V	probably benign	Het
Olfr374	T	A	8: 72,109,998	L144Q	probably damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Pkd1l3	C	T	8: 109,648,367	L1491F	probably damaging	Het
Plec	G	T	15: 76,175,768	T3488N	probably damaging	Het
Plk2	T	G	13: 110,399,134	S497A	probably benign	Het
Polr1a	G	A	6: 71,936,512	V617I	probably benign	Het
Prelid3a	C	A	18: 67,476,839	Y112*	probably null	Het
Rnf113a2	C	A	12: 84,417,476	S47R	possibly damaging	Het
Rtel1	A	G	2: 181,350,183	N410D	probably benign	Het
Ryr3	C	T	2: 112,800,047	A2140T	probably damaging	Het
Slc22a29	A	G	19: 8,169,990	L336P	probably benign	Het
Sphkap	T	A	1: 83,257,242	Q1621L	probably damaging	Het
Svs1	A	T	6: 48,987,415	Y119F	probably benign	Het
Tcrg-C1	A	T	13: 19,215,902	K123*	probably null	Het
Ttn	T	A	2: 76,909,519	S3559C	probably benign	Het
Ubr4	C	T	4: 139,480,676	R4923W	probably damaging	Het
Vac14	T	C	8: 110,710,452	L599P	probably damaging	Het
Wdr5	T	C	2: 27,519,734		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
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
R9214:Ccdc187	UTSW	2	26293397	missense	probably benign	0.19
Z1176:Ccdc187	UTSW	2	26281507	missense	probably benign	0.04

Posted On

2016-08-02