Mutagenetix > Incidental Mutations

Incidental Mutation 'R5925:Ccdc187'

461767

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

MMRRC Submission

044120-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26243469-26294557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26293581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 136 (S136P)

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: S136P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: S136P

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: S136P

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: S136P

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.4%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,284,238	V1733A	probably benign	Het
9130230L23Rik	C	T	5: 65,990,392	W16*	probably null	Het
Abca8a	T	C	11: 110,057,223	D985G	probably damaging	Het
Afp	T	A	5: 90,497,288	C188S	probably damaging	Het
Ank2	A	C	3: 126,932,963	L894R	probably benign	Het
Antxr1	A	G	6: 87,312,362	I60T	probably damaging	Het
Cep95	T	C	11: 106,812,401	S393P	probably benign	Het
Cyfip2	T	C	11: 46,207,436	Y1053C	probably damaging	Het
Diaph1	A	G	18: 37,891,935	V491A	unknown	Het
Ehf	T	C	2: 103,266,993		probably null	Het
Eif2b5	C	T	16: 20,508,124	H99Y	probably benign	Het
Exosc10	C	A	4: 148,573,362	T655K	probably benign	Het
Flg	A	T	3: 93,279,399	I53F	probably damaging	Het
Hc	T	A	2: 35,030,450	D628V	possibly damaging	Het
Lmo4	A	T	3: 144,194,491	N83K	probably benign	Het
Lrp4	A	T	2: 91,511,684	T1881S	probably benign	Het
Malt1	T	A	18: 65,431,368	L66Q	possibly damaging	Het
Map3k3	T	C	11: 106,149,550	S314P	probably benign	Het
Mpzl3	G	T	9: 45,062,114	K50N	probably damaging	Het
Nbeal2	G	T	9: 110,629,880	Q1992K	probably benign	Het
Nlrp14	T	A	7: 107,186,653	N645K	probably benign	Het
Olfr123	T	C	17: 37,795,591	I49T	probably benign	Het
Olfr813	A	G	10: 129,856,875	D119G	probably damaging	Het
Pcdha1	T	A	18: 36,930,671	D129E	probably damaging	Het
Prb1	A	G	6: 132,210,512	L2P	unknown	Het
Rhbdf1	A	G	11: 32,212,906	Y454H	probably benign	Het
Satb2	C	T	1: 56,796,938	A565T	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,267,612	L889Q	probably damaging	Het
Sis	T	C	3: 72,921,380		probably null	Het
Slc35e2	T	C	4: 155,611,627	V157A	probably damaging	Het
Slc35f3	T	C	8: 126,389,207	V291A	probably benign	Het
Snph	T	C	2: 151,594,231	D190G	probably damaging	Het
Tpd52l1	T	C	10: 31,332,947	H170R	probably benign	Het
Trav18	A	G	14: 53,831,695	T65A	probably benign	Het
Trip12	G	A	1: 84,749,253	Q9*	probably null	Het
Ttn	C	T	2: 76,802,248	C12408Y	probably damaging	Het
Ttn	T	C	2: 76,809,011	D13806G	probably damaging	Het
Unc79	G	C	12: 103,125,730		probably null	Het
Vmn2r81	T	C	10: 79,247,803	S4P	probably damaging	Het
Wdr60	A	T	12: 116,233,394	F448I	possibly damaging	Het
Zfp37	G	A	4: 62,191,213	T576I	possibly damaging	Het
Zfp39	A	T	11: 58,891,273	L221Q	possibly damaging	Het
Zgrf1	A	G	3: 127,573,204	H744R	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ACTGGAAGCGCATTTGTCACC -3'
(R):5'- AAACAGTTCCCTATGTGGCC -3'

Sequencing Primer
(F):5'- AAGCGCATTTGTCACCTTGGG -3'
(R):5'- CCTGGTCTGGCAATATCAAGGATC -3'

Posted On

2017-02-28