Mutagenetix > Incidental Mutations

Incidental Mutation 'R4428:Ccdc18'

328270

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

4932411G06Rik, 1700021E15Rik

MMRRC Submission

041698-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108132875-108233628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108136077 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 82 (Y82C)

Ref Sequence

ENSEMBL: ENSMUSP00000142963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002837] [ENSMUST00000047677] [ENSMUST00000061203] [ENSMUST00000117759] [ENSMUST00000118036] [ENSMUST00000119437] [ENSMUST00000119784] [ENSMUST00000197718]

Predicted Effect

probably benign
Transcript: ENSMUST00000002837

SMART Domains

Protein: ENSMUSP00000002837
Gene: ENSMUSG00000063406

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EMP24_GP25L	35	222	5e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047677
AA Change: Y82C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: Y82C

Domain	Start	End	E-Value	Type
coiled coil region	109	140	N/A	INTRINSIC
coiled coil region	168	320	N/A	INTRINSIC
coiled coil region	344	405	N/A	INTRINSIC
coiled coil region	507	1307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061203

SMART Domains

Protein: ENSMUSP00000056449
Gene: ENSMUSG00000063406

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:EMP24_GP25L	35	112	4.2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117759

SMART Domains

Protein: ENSMUSP00000112612
Gene: ENSMUSG00000063406

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:EMP24_GP25L	35	100	4.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118036

SMART Domains

Protein: ENSMUSP00000113922
Gene: ENSMUSG00000063406

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:EMP24_GP25L	35	99	1.6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119437

SMART Domains

Protein: ENSMUSP00000112406
Gene: ENSMUSG00000063406

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EMP24_GP25L	35	160	9.65e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119784

SMART Domains

Protein: ENSMUSP00000113422
Gene: ENSMUSG00000063406

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:EMP24_GP25L	35	96	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197718
AA Change: Y82C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142963
Gene: ENSMUSG00000056531
AA Change: Y82C

Domain	Start	End	E-Value	Type
coiled coil region	109	140	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200463

Meta Mutation Damage Score

0.0637

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Abcc1	T	A	16: 14,445,300	V708E	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
Cd82	T	C	2: 93,419,869	Y266C	probably damaging	Het
Chrna4	A	G	2: 181,028,620	S448P	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Cmpk1	T	C	4: 114,963,362	E180G	probably benign	Het
Dock8	T	C	19: 25,065,390	V112A	probably benign	Het
Dock8	T	C	19: 25,200,499	I2066T	probably damaging	Het
Fgf3	T	C	7: 144,840,707	V86A	probably damaging	Het
Frem2	A	G	3: 53,654,338	I916T	probably benign	Het
Gsk3b	T	A	16: 38,193,936	L252Q	probably damaging	Het
Kif18a	A	G	2: 109,288,121	T94A	probably damaging	Het
Klhdc1	T	A	12: 69,268,226		probably benign	Het
Klhl25	T	A	7: 75,865,414	F23I	probably damaging	Het
Mapk7	T	C	11: 61,489,229	D701G	possibly damaging	Het
Mbd5	A	T	2: 49,279,764	Q47L	possibly damaging	Het
Nrcam	A	G	12: 44,576,775	D1049G	possibly damaging	Het
Olfml2a	G	T	2: 38,941,743	M111I	probably damaging	Het
Olfr402	T	C	11: 74,155,199	F15S	probably damaging	Het
Pld2	A	T	11: 70,541,334	H93L	probably damaging	Het
Pomgnt2	T	C	9: 121,982,254	E487G	possibly damaging	Het
Psg17	G	T	7: 18,816,792	N379K	probably benign	Het
Rfk	T	A	19: 17,398,595	H84Q	possibly damaging	Het
Scn8a	A	G	15: 100,983,903	Y617C	probably damaging	Het
Sema3d	T	C	5: 12,448,120	F31S	probably benign	Het
Shq1	T	C	6: 100,670,928	Y45C	probably damaging	Het
Siglecg	C	T	7: 43,417,926	P639L	possibly damaging	Het
Skp2	A	T	15: 9,116,947	N325K	probably benign	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
Sp8	T	A	12: 118,849,203	S264R	possibly damaging	Het
Sun1	T	C	5: 139,234,475		probably benign	Het
Tardbp	A	G	4: 148,625,202	V54A	possibly damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem68	A	T	4: 3,569,534	I52K	probably benign	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Umps	A	C	16: 33,961,586	V322G	probably damaging	Het
Vmn2r109	T	C	17: 20,553,024	D445G	probably benign	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vmn2r4	C	T	3: 64,415,169	G43E	probably damaging	Het

Other mutations in Ccdc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Ccdc18	APN	5	108180525	missense	probably benign	0.01
IGL01380:Ccdc18	APN	5	108180887	missense	probably damaging	0.96
IGL01405:Ccdc18	APN	5	108202186	splice site	probably benign
IGL01718:Ccdc18	APN	5	108201348	missense	possibly damaging	0.81
IGL02098:Ccdc18	APN	5	108202111	missense	probably damaging	1.00
IGL02227:Ccdc18	APN	5	108148922	missense	possibly damaging	0.89
IGL02391:Ccdc18	APN	5	108136052	missense	probably damaging	1.00
IGL02794:Ccdc18	APN	5	108171748	missense	probably benign	0.00
IGL02808:Ccdc18	APN	5	108135969	splice site	probably benign
IGL02880:Ccdc18	APN	5	108135444	missense	probably benign	0.31
IGL03069:Ccdc18	APN	5	108228901	missense	probably damaging	1.00
IGL03390:Ccdc18	APN	5	108212131	missense	probably damaging	1.00
PIT4402001:Ccdc18	UTSW	5	108158619	missense	possibly damaging	0.94
R0004:Ccdc18	UTSW	5	108161700	missense	possibly damaging	0.52
R0112:Ccdc18	UTSW	5	108173761	missense	probably damaging	1.00
R0295:Ccdc18	UTSW	5	108173789	missense	probably damaging	1.00
R0546:Ccdc18	UTSW	5	108174964	missense	probably benign	0.06
R0619:Ccdc18	UTSW	5	108180416	missense	probably benign	0.04
R0648:Ccdc18	UTSW	5	108135560	missense	probably damaging	0.99
R0648:Ccdc18	UTSW	5	108174987	missense	probably damaging	1.00
R0666:Ccdc18	UTSW	5	108163664	missense	probably benign	0.19
R1271:Ccdc18	UTSW	5	108202116	nonsense	probably null
R1509:Ccdc18	UTSW	5	108188978	missense	possibly damaging	0.89
R1539:Ccdc18	UTSW	5	108191977	missense	probably damaging	1.00
R1542:Ccdc18	UTSW	5	108212188	missense	probably benign
R1663:Ccdc18	UTSW	5	108216090	missense	probably damaging	1.00
R1865:Ccdc18	UTSW	5	108193802	missense	probably benign	0.00
R1870:Ccdc18	UTSW	5	108220837	missense	possibly damaging	0.90
R1897:Ccdc18	UTSW	5	108196042	missense	probably benign	0.00
R1946:Ccdc18	UTSW	5	108228995	missense	probably damaging	1.00
R2420:Ccdc18	UTSW	5	108228588	missense	probably damaging	0.96
R2421:Ccdc18	UTSW	5	108228588	missense	probably damaging	0.96
R2422:Ccdc18	UTSW	5	108228588	missense	probably damaging	0.96
R4078:Ccdc18	UTSW	5	108158528	nonsense	probably null
R4079:Ccdc18	UTSW	5	108158528	nonsense	probably null
R4244:Ccdc18	UTSW	5	108148972	nonsense	probably null
R4409:Ccdc18	UTSW	5	108220842	nonsense	probably null
R4455:Ccdc18	UTSW	5	108161529	missense	possibly damaging	0.68
R4499:Ccdc18	UTSW	5	108228960	missense	possibly damaging	0.62
R4612:Ccdc18	UTSW	5	108135441	missense	probably benign	0.01
R4907:Ccdc18	UTSW	5	108136141	missense	probably benign	0.01
R4972:Ccdc18	UTSW	5	108192003	missense	probably benign
R5039:Ccdc18	UTSW	5	108158648	critical splice donor site	probably null
R5835:Ccdc18	UTSW	5	108140874	missense	possibly damaging	0.94
R5854:Ccdc18	UTSW	5	108206728	missense	possibly damaging	0.79
R6128:Ccdc18	UTSW	5	108163759	missense	possibly damaging	0.76
R6229:Ccdc18	UTSW	5	108171618	missense	probably benign	0.00
R6271:Ccdc18	UTSW	5	108174887	missense	possibly damaging	0.65
R6315:Ccdc18	UTSW	5	108161582	missense	probably benign
R6359:Ccdc18	UTSW	5	108135525	missense	probably damaging	1.00
R6375:Ccdc18	UTSW	5	108174954	missense	possibly damaging	0.79
R6388:Ccdc18	UTSW	5	108201348	missense	possibly damaging	0.81
R6415:Ccdc18	UTSW	5	108161746	missense	probably benign	0.03
R6560:Ccdc18	UTSW	5	108191924	missense	probably benign	0.09
R6645:Ccdc18	UTSW	5	108138930	missense	probably benign
R6664:Ccdc18	UTSW	5	108168100	nonsense	probably null
R6836:Ccdc18	UTSW	5	108197967	missense	probably damaging	1.00
R6947:Ccdc18	UTSW	5	108161535	missense	probably benign	0.26
R7009:Ccdc18	UTSW	5	108173862	critical splice donor site	probably null
R7052:Ccdc18	UTSW	5	108161688	missense	probably benign	0.15
R7058:Ccdc18	UTSW	5	108193798	missense	probably benign
R7087:Ccdc18	UTSW	5	108196122	missense	probably benign
R7117:Ccdc18	UTSW	5	108148969	missense	possibly damaging	0.95
R7176:Ccdc18	UTSW	5	108168106	missense	probably benign
R7382:Ccdc18	UTSW	5	108139007	missense	probably damaging	1.00
R7477:Ccdc18	UTSW	5	108220850	missense	probably damaging	0.98
R7493:Ccdc18	UTSW	5	108206617	nonsense	probably null
R7506:Ccdc18	UTSW	5	108163739	missense	possibly damaging	0.85
R7635:Ccdc18	UTSW	5	108229049	critical splice donor site	probably null
R7690:Ccdc18	UTSW	5	108228662	missense	probably benign	0.00
R7748:Ccdc18	UTSW	5	108149041	critical splice donor site	probably null
R7812:Ccdc18	UTSW	5	108180833	missense	probably benign	0.00
R8017:Ccdc18	UTSW	5	108228645	nonsense	probably null
R8019:Ccdc18	UTSW	5	108228645	nonsense	probably null
R8172:Ccdc18	UTSW	5	108163774	critical splice donor site	probably null
R8177:Ccdc18	UTSW	5	108197795	missense	possibly damaging	0.65
R8344:Ccdc18	UTSW	5	108161503	missense	possibly damaging	0.88
R8351:Ccdc18	UTSW	5	108155797	missense	probably damaging	1.00
R8415:Ccdc18	UTSW	5	108216033	missense	probably damaging	1.00
R8451:Ccdc18	UTSW	5	108155797	missense	probably damaging	1.00
R8547:Ccdc18	UTSW	5	108197859	missense	probably damaging	1.00
RF013:Ccdc18	UTSW	5	108220716	missense	probably benign	0.05
X0024:Ccdc18	UTSW	5	108191922	missense	probably benign	0.01
X0063:Ccdc18	UTSW	5	108212197	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTGGAAACACAGTCTTATGCTC -3'
(R):5'- TCTGACCTCTACATCATATGCAGAC -3'

Sequencing Primer
(F):5'- GGAAACACAGTCTTATGCTCATAAC -3'
(R):5'- TCATATGCAGACAAAACACTCATC -3'

Posted On

2015-07-07