Mutagenetix > Incidental Mutations

Incidental Mutation 'R4278:Ccdc187'

500527

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: 0.107) question?

Stock #

R4278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26243469-26294557 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 26282227 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150719 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057224

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038

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 benign
Transcript: ENSMUST00000217256

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: D281V

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anln	A	G	9: 22,334,000		probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Capza3	T	A	6: 140,042,060	Y128*	probably null	Het
Dpp4	T	C	2: 62,379,323	R119G	probably damaging	Het
Espn	T	C	4: 152,134,417	D308G	probably damaging	Het
Gm9857	T	C	3: 108,940,103		probably benign	Het
Hhatl	G	A	9: 121,784,219	A470V	probably benign	Het
Igfals	A	T	17: 24,881,217	E427D	probably benign	Het
Il22ra1	C	T	4: 135,750,713	A365V	possibly damaging	Het
Kctd6	G	C	14: 8,222,806	R216P	probably damaging	Het
Lama1	A	T	17: 67,791,517	M1864L	probably null	Het
Mbd5	T	G	2: 49,272,293	I37S	probably damaging	Het
Nsf	C	A	11: 103,930,806	A5S	probably damaging	Het
Nsun5	A	G	5: 135,370,060	Y26C	probably damaging	Het
Olfr1500	A	G	19: 13,828,429		probably benign	Het
Pitpnm3	C	T	11: 72,074,516	V164I	probably damaging	Het
Plk2	A	G	13: 110,396,103	K117R	probably benign	Het
Ppp1r13b	G	T	12: 111,830,384	N908K	probably damaging	Het
Rapgef4	T	A	2: 72,198,395	N385K	possibly damaging	Het
Rbp3	G	A	14: 33,958,650	V1070I	probably benign	Het
Rhbdd3	C	T	11: 5,105,329	T226I	probably benign	Het
Slc27a3	C	T	3: 90,389,188		probably benign	Het
Slc30a2	G	A	4: 134,346,049	E136K	probably null	Het
Sptlc2	A	C	12: 87,336,151	I393R	probably benign	Het
Tmem260	C	T	14: 48,477,636	T249M	probably damaging	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Uhrf1bp1l	T	G	10: 89,806,709		probably null	Het
Vmn1r80	G	T	7: 12,193,527	C188F	probably benign	Het
Vwa2	C	A	19: 56,903,483	Q283K	probably benign	Het
Zfp52	A	G	17: 21,561,870	K660R	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAATGTTCTCTGTGCCCACC -3'
(R):5'- ATAACCTCCATTGAGCAGGC -3'

Sequencing Primer
(F):5'- TGTGCCCACCCACTAATGC -3'
(R):5'- CTATTACAGAGATGCACCATGCTGG -3'

Posted On

2017-12-01