Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4402001:Ccdc18'

555517

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

4932411G06Rik, 1700021E15Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4402001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108132875-108233628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108158619 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 300 (E300G)

Ref Sequence

ENSEMBL: ENSMUSP00000036507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047677] [ENSMUST00000197718]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047677
AA Change: E300G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: E300G

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: ENSMUST00000197718

SMART Domains

Protein: ENSMUSP00000142963
Gene: ENSMUSG00000056531

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

Coding Region Coverage

1x: 92.8%
3x: 90.3%
10x: 83.2%
20x: 68.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	G	14: 59,142,635	L71F	probably damaging	Het
Adamts9	C	T	6: 92,872,347	V1044I	probably benign	Het
Alcam	T	C	16: 52,295,134	Y207C	probably damaging	Het
Aldh4a1	C	A	4: 139,642,191	S351*	probably null	Het
Aoah	C	A	13: 20,794,510	S39R	probably benign	Het
Arcn1	A	T	9: 44,745,602	V421E	possibly damaging	Het
Cdk2ap2	C	A	19: 4,098,557	R126S	probably damaging	Het
Dcun1d4	A	G	5: 73,510,933	I39V	probably benign	Het
Fam53b	A	T	7: 132,760,017	I94N	probably damaging	Het
Fam83g	A	G	11: 61,703,596	H652R	probably damaging	Het
Fanca	A	T	8: 123,313,064	M157K	possibly damaging	Het
Flt1	A	T	5: 147,678,239	I299N	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016		probably null	Het
Gns	A	G	10: 121,376,706	Y191C	probably damaging	Het
Grin2a	T	C	16: 9,644,199	T690A	possibly damaging	Het
Gsk3b	C	T	16: 38,089,401		probably benign	Het
Igsf10	A	G	3: 59,325,579	V1911A	probably benign	Het
Igsf3	A	G	3: 101,427,077	K157E	probably benign	Het
Inpp5a	T	C	7: 139,511,453	Y118H	probably benign	Het
Kmt2a	A	G	9: 44,841,062	V1413A	unknown	Het
Mettl9	T	A	7: 121,057,217	V190E	probably damaging	Het
Mrps9	T	C	1: 42,896,098	L188P	probably benign	Het
Myo9a	A	T	9: 59,870,436	R1158S	possibly damaging	Het
Nacad	T	G	11: 6,598,621	Q1371P	probably benign	Het
Ncoa1	T	C	12: 4,294,987	M787V	probably benign	Het
Noxred1	A	T	12: 87,227,081	I62K	probably benign	Het
Olfr1390	A	G	11: 49,341,399	Y289C	probably damaging	Het
Olfr1532-ps1	T	A	7: 106,915,087	D296E	possibly damaging	Het
Olfr350	A	T	2: 36,850,304	H86L	probably benign	Het
Olfr646	A	G	7: 104,106,450	Y57C	probably damaging	Het
Otud6b	A	G	4: 14,818,185	Y239H	probably damaging	Het
Pank1	A	G	19: 34,840,966	Y233H	probably damaging	Het
Pccb	G	T	9: 100,995,592	D286E	probably benign	Het
Plek	A	C	11: 16,990,121	L196R	probably benign	Het
Pou6f2	T	C	13: 18,125,346	H576R		Het
Rbm47	T	A	5: 66,027,011	Y83F	probably damaging	Het
Rbm6	A	T	9: 107,787,850	Y787N	probably damaging	Het
Slc8a2	C	A	7: 16,134,494	A217E	probably damaging	Het
Suox	G	A	10: 128,671,295	A288V	probably damaging	Het
Tbccd1	T	C	16: 22,822,123	I501M	probably damaging	Het
Tjp2	C	A	19: 24,098,129	G1042*	probably null	Het
Tmtc2	T	C	10: 105,413,407	Y155C	probably damaging	Het
Usp7	T	C	16: 8,698,495	N600S	probably benign	Het
Zer1	T	C	2: 30,101,120	I699V	probably damaging	Het
Zfp142	A	G	1: 74,579,528	F227S	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
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
R4428:Ccdc18	UTSW	5	108136077	missense	probably benign	0.01
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
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'- AAGGAATACTTAGCCTGTTCCTGTTTC -3'
(R):5'- CCTATTTAAGCATCTTTACTAGCTAGC -3'

Sequencing Primer
(F):5'- TGTTCCTGTTTCTTTCCAATATCAC -3'
(R):5'- CAGTCACAAATCTTAGCCTTC -3'

Posted On

2019-06-07