Mutagenetix > Incidental Mutation

Incidental Mutation 'R2304:Ccdc187'

244515

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

MMRRC Submission

040303-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R2304 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26161659-26184569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26171029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 483 (K483R)

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: K483R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: K483R

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: K483R

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: K522R

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,142,366 (GRCm39)	R806S	probably damaging	Het
Dcdc5	T	A	2: 106,166,488 (GRCm39)		noncoding transcript	Het
Dvl1	C	T	4: 155,940,041 (GRCm39)	S391F	probably damaging	Het
Erg28	A	G	12: 85,862,937 (GRCm39)	L125P	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm5449	G	T	13: 53,679,899 (GRCm39)		noncoding transcript	Het
Grid2ip	T	C	5: 143,373,595 (GRCm39)	Y796H	probably damaging	Het
Mcrip1	A	T	11: 120,435,519 (GRCm39)	F39I	probably damaging	Het
Or5w12	T	A	2: 87,502,238 (GRCm39)	I158L	probably benign	Het
Prss53	T	C	7: 127,487,479 (GRCm39)	N291D	probably benign	Het
Ptpru	A	T	4: 131,499,879 (GRCm39)	V1255D	probably damaging	Het
Rbl1	T	C	2: 156,989,551 (GRCm39)	T1023A	probably benign	Het
Rnaseh2b	T	C	14: 62,598,838 (GRCm39)	S188P	probably damaging	Het
Sh2d6	T	C	6: 72,497,542 (GRCm39)	E20G	probably damaging	Het
Slc13a5	A	G	11: 72,149,865 (GRCm39)	V172A	probably damaging	Het
Slco5a1	C	T	1: 12,949,486 (GRCm39)	G635S	probably damaging	Het
Sp8	G	T	12: 118,812,304 (GRCm39)	S53I	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Togaram1	G	T	12: 65,023,630 (GRCm39)		probably null	Het
Trip11	A	T	12: 101,865,236 (GRCm39)	F146I	possibly damaging	Het
Vmn1r184	T	C	7: 25,966,550 (GRCm39)	S99P	probably damaging	Het
Xpot	T	C	10: 121,447,488 (GRCm39)	I325V	probably benign	Het
Zfp786	A	G	6: 47,797,633 (GRCm39)	L435P	probably damaging	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
R4278:Ccdc187	UTSW	2	26,172,239 (GRCm39)	intron	probably benign
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'- ACTTTTGCCCTTGCTGGAG -3'
(R):5'- AGAAAGCCTTGGCTGAGCAC -3'

Sequencing Primer
(F):5'- CTTGCTGGAGGGACTGGAC -3'
(R):5'- TGAGCACGAGTCTTGTCCAC -3'

Posted On

2014-10-30