Mutagenetix > Incidental Mutations

Incidental Mutation 'R5416:Ccdc187'

427709

Institutional Source

Beutler Lab

Gene Symbol

Ccdc187

Ensembl Gene

ENSMUSG00000048038

Gene Name

coiled-coil domain containing 187

Synonyms

4932418E24Rik

MMRRC Submission

042985-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26243469-26294557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26276092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 775 (P775L)

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: P775L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: P775L

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: P775L

Predicted Effect

unknown
Transcript: ENSMUST00000227200
AA Change: P814L

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,907,596	E689D	probably damaging	Het
Acsl6	A	G	11: 54,337,171	E339G	probably benign	Het
Adcy3	G	A	12: 4,209,308	E861K	probably damaging	Het
Adrm1	C	T	2: 180,176,137	T394I	probably benign	Het
Adsl	T	A	15: 80,952,183		probably null	Het
Asxl3	T	A	18: 22,524,494	C1854S	probably damaging	Het
C87436	A	G	6: 86,465,850	Y458C	probably damaging	Het
Cacna1e	T	C	1: 154,465,779	D1161G	probably damaging	Het
Ccr1	G	T	9: 123,964,376	P39H	probably damaging	Het
Cdh18	A	G	15: 23,226,723	Y90C	probably damaging	Het
Chadl	T	C	15: 81,693,899	R510G	probably benign	Het
Clcnkb	T	C	4: 141,413,900	T115A	probably benign	Het
Clptm1	C	A	7: 19,633,816		probably benign	Het
Col24a1	A	T	3: 145,315,025	R386*	probably null	Het
Ctsj	G	T	13: 61,004,523	L10M	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dhx40	T	C	11: 86,797,691	D302G	probably benign	Het
Edrf1	T	C	7: 133,641,402	F166L	possibly damaging	Het
Epha1	A	T	6: 42,365,871	M248K	probably damaging	Het
Evpl	C	A	11: 116,234,259	V126L	probably benign	Het
Fam83d	T	C	2: 158,785,632	C414R	possibly damaging	Het
Fat2	T	C	11: 55,303,688	N1175S	possibly damaging	Het
Fhad1	G	A	4: 141,918,802	T283I	probably benign	Het
Fuca1	A	G	4: 135,922,980	T121A	probably damaging	Het
Gm13941	A	T	2: 111,094,734	S175T	unknown	Het
Gpr107	T	A	2: 31,185,548	I357N	probably damaging	Het
Gpr161	T	A	1: 165,321,461	H466Q	probably benign	Het
Hsd3b5	A	G	3: 98,619,150	F327L	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Itgb7	A	T	15: 102,217,309	D628E	probably benign	Het
Nwd1	A	G	8: 72,666,694	D236G	possibly damaging	Het
Olfr214	A	T	6: 116,557,205	Y260F	probably damaging	Het
Olfr663	C	T	7: 104,703,716	L50F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhb8	A	G	18: 37,356,955	Y562C	probably damaging	Het
Phkg2	A	G	7: 127,582,935	H376R	possibly damaging	Het
Plxnc1	G	A	10: 94,837,554	T1018I	probably damaging	Het
Ppp6r1	A	T	7: 4,639,748	D532E	possibly damaging	Het
Prkdc	T	C	16: 15,805,950	L3259P	probably damaging	Het
Prkg2	A	T	5: 98,943,467	D641E	probably benign	Het
Psg26	T	C	7: 18,482,600	T105A	probably benign	Het
Ptprs	T	C	17: 56,435,724	T473A	probably damaging	Het
Pwp2	G	T	10: 78,183,001	N57K	probably damaging	Het
Rnf216	G	T	5: 143,015,771	C733*	probably null	Het
Serpina1f	T	A	12: 103,693,944	K26N	possibly damaging	Het
Sez6l2	T	A	7: 126,961,886	C448S	probably damaging	Het
Slc28a3	A	T	13: 58,576,793	L216M	probably damaging	Het
Sorbs1	A	G	19: 40,376,989	S117P	probably benign	Het
Sorl1	A	T	9: 42,002,636	C1332*	probably null	Het
Specc1	T	C	11: 62,118,909	V497A	probably benign	Het
Tmem204	T	C	17: 25,058,326	E195G	probably damaging	Het
Tnfrsf13b	T	C	11: 61,147,023		probably null	Het
Ttll5	G	A	12: 86,012,828	V1250M	possibly damaging	Het
Ube4a	G	A	9: 44,941,178	T681I	probably damaging	Het
Ubqln3	C	T	7: 104,141,672	V404I	probably benign	Het
Yeats2	T	C	16: 20,211,569	S919P	probably benign	Het
Zfp575	C	T	7: 24,586,722	G3D	probably benign	Het
Zfp644	C	T	5: 106,618,428		silent	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
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

Predicted Primers

PCR Primer
(F):5'- AGGATCATCCAACAGGCATGAC -3'
(R):5'- TGCACTTCCAGTACAAGCAAG -3'

Sequencing Primer
(F):5'- ACAGGCATGACACCCATTG -3'
(R):5'- TACAAGCAAGCCCGGCTG -3'

Posted On

2016-09-01