Mutagenetix > Incidental Mutation

Incidental Mutation 'R4278:Ccdc187'

500527

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

MMRRC Submission

068968-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R4278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26161659-26184569 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 26172239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150719 (fasta)

Gene Model

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

AlphaFold

Q8C5V8

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: 22,245,296 (GRCm39)		probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Bltp3b	T	G	10: 89,642,571 (GRCm39)		probably null	Het
Capza3	T	A	6: 139,987,786 (GRCm39)	Y128*	probably null	Het
Dpp4	T	C	2: 62,209,667 (GRCm39)	R119G	probably damaging	Het
Espn	T	C	4: 152,218,874 (GRCm39)	D308G	probably damaging	Het
Gm9857	T	C	3: 108,847,419 (GRCm39)		probably benign	Het
Hhatl	G	A	9: 121,613,285 (GRCm39)	A470V	probably benign	Het
Igfals	A	T	17: 25,100,191 (GRCm39)	E427D	probably benign	Het
Il22ra1	C	T	4: 135,478,024 (GRCm39)	A365V	possibly damaging	Het
Kctd6	G	C	14: 8,222,806 (GRCm38)	R216P	probably damaging	Het
Lama1	A	T	17: 68,098,512 (GRCm39)	M1864L	probably null	Het
Mbd5	T	G	2: 49,162,305 (GRCm39)	I37S	probably damaging	Het
Nsf	C	A	11: 103,821,632 (GRCm39)	A5S	probably damaging	Het
Nsun5	A	G	5: 135,398,914 (GRCm39)	Y26C	probably damaging	Het
Or9q1	A	G	19: 13,805,793 (GRCm39)		probably benign	Het
Pitpnm3	C	T	11: 71,965,342 (GRCm39)	V164I	probably damaging	Het
Plk2	A	G	13: 110,532,637 (GRCm39)	K117R	probably benign	Het
Ppp1r13b	G	T	12: 111,796,818 (GRCm39)	N908K	probably damaging	Het
Rapgef4	T	A	2: 72,028,739 (GRCm39)	N385K	possibly damaging	Het
Rbp3	G	A	14: 33,680,607 (GRCm39)	V1070I	probably benign	Het
Rhbdd3	C	T	11: 5,055,329 (GRCm39)	T226I	probably benign	Het
Slc27a3	C	T	3: 90,296,495 (GRCm39)		probably benign	Het
Slc30a2	G	A	4: 134,073,360 (GRCm39)	E136K	probably null	Het
Sptlc2	A	C	12: 87,382,925 (GRCm39)	I393R	probably benign	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r80	G	T	7: 11,927,454 (GRCm39)	C188F	probably benign	Het
Vwa2	C	A	19: 56,891,915 (GRCm39)	Q283K	probably benign	Het
Zfp52	A	G	17: 21,782,132 (GRCm39)	K660R	probably benign	Het

Other mutations in Ccdc187

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Ccdc187	APN	2	26,170,960 (GRCm39)	missense	probably benign
IGL02989:Ccdc187	APN	2	26,166,443 (GRCm39)	missense	possibly damaging	0.92
IGL03017:Ccdc187	APN	2	26,170,978 (GRCm39)	missense	probably benign
IGL03059:Ccdc187	APN	2	26,184,253 (GRCm39)	missense	probably null	1.00
IGL03117:Ccdc187	APN	2	26,177,980 (GRCm39)	missense	possibly damaging	0.95
R0026:Ccdc187	UTSW	2	26,171,365 (GRCm39)	missense	probably benign	0.00
R0144:Ccdc187	UTSW	2	26,166,215 (GRCm39)	missense	probably damaging	0.98
R1078:Ccdc187	UTSW	2	26,184,389 (GRCm39)	missense	probably damaging	0.98
R1226:Ccdc187	UTSW	2	26,166,133 (GRCm39)	missense	probably damaging	0.99
R1624:Ccdc187	UTSW	2	26,171,087 (GRCm39)	missense	probably benign
R1733:Ccdc187	UTSW	2	26,183,670 (GRCm39)	missense	possibly damaging	0.93
R1851:Ccdc187	UTSW	2	26,166,080 (GRCm39)	missense	probably benign	0.17
R2304:Ccdc187	UTSW	2	26,171,029 (GRCm39)	missense	possibly damaging	0.94
R4344:Ccdc187	UTSW	2	26,170,681 (GRCm39)	missense	probably damaging	1.00
R5151:Ccdc187	UTSW	2	26,183,451 (GRCm39)	missense	probably damaging	1.00
R5416:Ccdc187	UTSW	2	26,166,104 (GRCm39)	missense	possibly damaging	0.87
R5537:Ccdc187	UTSW	2	26,166,237 (GRCm39)	missense	probably benign	0.32
R5761:Ccdc187	UTSW	2	26,166,104 (GRCm39)	missense	possibly damaging	0.87
R5762:Ccdc187	UTSW	2	26,166,104 (GRCm39)	missense	possibly damaging	0.87
R5865:Ccdc187	UTSW	2	26,183,380 (GRCm39)	missense	probably benign	0.00
R5925:Ccdc187	UTSW	2	26,183,593 (GRCm39)	missense	probably benign
R6261:Ccdc187	UTSW	2	26,166,215 (GRCm39)	missense	probably damaging	0.98
R6803:Ccdc187	UTSW	2	26,179,791 (GRCm39)	missense	probably benign	0.02
R6888:Ccdc187	UTSW	2	26,179,746 (GRCm39)	missense	probably damaging	0.98
R6958:Ccdc187	UTSW	2	26,179,731 (GRCm39)	missense	probably benign
R7006:Ccdc187	UTSW	2	26,171,102 (GRCm39)	missense	probably benign	0.05
R7358:Ccdc187	UTSW	2	26,146,007 (GRCm39)	missense	probably damaging	0.97
R7818:Ccdc187	UTSW	2	26,166,186 (GRCm39)	missense	possibly damaging	0.61
R8048:Ccdc187	UTSW	2	26,183,526 (GRCm39)	missense	possibly damaging	0.53
R8327:Ccdc187	UTSW	2	26,170,630 (GRCm39)	missense	probably benign	0.01
R8353:Ccdc187	UTSW	2	26,166,458 (GRCm39)	missense	probably damaging	0.99
R8425:Ccdc187	UTSW	2	26,171,548 (GRCm39)	missense	probably damaging	0.99
R8453:Ccdc187	UTSW	2	26,166,458 (GRCm39)	missense	probably damaging	0.99
R8461:Ccdc187	UTSW	2	26,183,814 (GRCm39)	missense	probably damaging	0.99
R8534:Ccdc187	UTSW	2	26,165,577 (GRCm39)	missense	possibly damaging	0.61
R8694:Ccdc187	UTSW	2	26,165,505 (GRCm39)	missense	probably benign	0.02
R8745:Ccdc187	UTSW	2	26,170,526 (GRCm39)	missense	probably damaging	0.99
R8958:Ccdc187	UTSW	2	26,165,577 (GRCm39)	missense	probably benign	0.02
R8972:Ccdc187	UTSW	2	26,171,079 (GRCm39)	missense	probably benign
R9214:Ccdc187	UTSW	2	26,183,409 (GRCm39)	missense	probably benign	0.19
R9454:Ccdc187	UTSW	2	26,166,114 (GRCm39)	missense	possibly damaging	0.94
R9542:Ccdc187	UTSW	2	26,145,930 (GRCm39)	missense	possibly damaging	0.66
R9562:Ccdc187	UTSW	2	26,183,698 (GRCm39)	missense	possibly damaging	0.90
R9565:Ccdc187	UTSW	2	26,183,698 (GRCm39)	missense	possibly damaging	0.90
R9601:Ccdc187	UTSW	2	26,143,445 (GRCm39)	missense	possibly damaging	0.90
R9702:Ccdc187	UTSW	2	26,172,222 (GRCm39)	missense	unknown
R9727:Ccdc187	UTSW	2	26,171,204 (GRCm39)	missense	probably damaging	0.99
R9790:Ccdc187	UTSW	2	26,171,227 (GRCm39)	missense	probably benign
R9791:Ccdc187	UTSW	2	26,171,227 (GRCm39)	missense	probably benign
Z1176:Ccdc187	UTSW	2	26,171,519 (GRCm39)	missense	probably benign	0.04

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