Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02808:Ccdc18'

360504

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

1700021E15Rik, 4932411G06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02808

Quality Score

Status

Chromosome

Chromosomal Location

108280741-108381494 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 108283835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142963 (fasta)

Gene Model

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

AlphaFold

Q640L5

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

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531

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

noncoding transcript
Transcript: ENSMUST00000200463

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adk	C	T	14: 21,153,901 (GRCm39)	P35S	probably benign	Het
Ankmy1	T	A	1: 92,814,388 (GRCm39)	D373V	probably damaging	Het
Aox3	A	G	1: 58,181,859 (GRCm39)	Y282C	probably damaging	Het
Bcas3	A	G	11: 85,386,677 (GRCm39)	T371A	probably benign	Het
Bckdhb	T	C	9: 83,870,898 (GRCm39)	V136A	probably benign	Het
Cdc25a	T	A	9: 109,712,667 (GRCm39)		probably null	Het
Ckap5	T	A	2: 91,426,859 (GRCm39)	Y1394N	probably damaging	Het
Dhx15	A	G	5: 52,319,041 (GRCm39)	V458A	possibly damaging	Het
Dram1	T	C	10: 88,172,786 (GRCm39)	Y136C	probably damaging	Het
Dusp19	A	G	2: 80,447,815 (GRCm39)	K30E	probably benign	Het
Elmo2	T	C	2: 165,133,627 (GRCm39)		probably benign	Het
Fcho1	G	A	8: 72,165,185 (GRCm39)	S424L	possibly damaging	Het
Ganc	A	G	2: 120,241,992 (GRCm39)	T57A	probably benign	Het
Hgs	T	A	11: 120,360,492 (GRCm39)	Y63*	probably null	Het
Marchf6	A	T	15: 31,478,552 (GRCm39)	N594K	probably benign	Het
Muc5ac	C	A	7: 141,359,512 (GRCm39)	T1323N	possibly damaging	Het
Mycn	T	C	12: 12,989,893 (GRCm39)	S168G	probably benign	Het
Phf11d	G	T	14: 59,586,739 (GRCm39)	Q298K	probably damaging	Het
Pkd1	T	A	17: 24,812,478 (GRCm39)	Y3804N	probably damaging	Het
Pramel16	T	A	4: 143,677,585 (GRCm39)		probably benign	Het
Prr14l	A	G	5: 32,985,526 (GRCm39)	I1323T	possibly damaging	Het
Pyroxd2	T	C	19: 42,719,781 (GRCm39)	E475G	probably benign	Het
Ros1	T	C	10: 52,001,985 (GRCm39)	K1046E	probably damaging	Het
Sema7a	C	T	9: 57,867,631 (GRCm39)	A461V	probably benign	Het
Slc30a2	T	A	4: 134,071,360 (GRCm39)	I31N	possibly damaging	Het
Srebf1	C	A	11: 60,092,539 (GRCm39)		probably null	Het
Srms	A	T	2: 180,849,501 (GRCm39)	I301N	probably damaging	Het
Tmem130	A	G	5: 144,680,433 (GRCm39)	Y324H	probably damaging	Het
Ttn	G	A	2: 76,601,602 (GRCm39)	T18654I	probably benign	Het
Vmn2r6	T	A	3: 64,463,917 (GRCm39)	T306S	probably damaging	Het

Other mutations in Ccdc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Ccdc18	APN	5	108,328,391 (GRCm39)	missense	probably benign	0.01
IGL01380:Ccdc18	APN	5	108,328,753 (GRCm39)	missense	probably damaging	0.96
IGL01405:Ccdc18	APN	5	108,350,052 (GRCm39)	splice site	probably benign
IGL01718:Ccdc18	APN	5	108,349,214 (GRCm39)	missense	possibly damaging	0.81
IGL02098:Ccdc18	APN	5	108,349,977 (GRCm39)	missense	probably damaging	1.00
IGL02227:Ccdc18	APN	5	108,296,788 (GRCm39)	missense	possibly damaging	0.89
IGL02391:Ccdc18	APN	5	108,283,918 (GRCm39)	missense	probably damaging	1.00
IGL02794:Ccdc18	APN	5	108,319,614 (GRCm39)	missense	probably benign	0.00
IGL02880:Ccdc18	APN	5	108,283,310 (GRCm39)	missense	probably benign	0.31
IGL03069:Ccdc18	APN	5	108,376,767 (GRCm39)	missense	probably damaging	1.00
IGL03390:Ccdc18	APN	5	108,359,997 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Ccdc18	UTSW	5	108,306,485 (GRCm39)	missense	possibly damaging	0.94
R0004:Ccdc18	UTSW	5	108,309,566 (GRCm39)	missense	possibly damaging	0.52
R0112:Ccdc18	UTSW	5	108,321,627 (GRCm39)	missense	probably damaging	1.00
R0295:Ccdc18	UTSW	5	108,321,655 (GRCm39)	missense	probably damaging	1.00
R0546:Ccdc18	UTSW	5	108,322,830 (GRCm39)	missense	probably benign	0.06
R0619:Ccdc18	UTSW	5	108,328,282 (GRCm39)	missense	probably benign	0.04
R0648:Ccdc18	UTSW	5	108,322,853 (GRCm39)	missense	probably damaging	1.00
R0648:Ccdc18	UTSW	5	108,283,426 (GRCm39)	missense	probably damaging	0.99
R0666:Ccdc18	UTSW	5	108,311,530 (GRCm39)	missense	probably benign	0.19
R1271:Ccdc18	UTSW	5	108,349,982 (GRCm39)	nonsense	probably null
R1509:Ccdc18	UTSW	5	108,336,844 (GRCm39)	missense	possibly damaging	0.89
R1539:Ccdc18	UTSW	5	108,339,843 (GRCm39)	missense	probably damaging	1.00
R1542:Ccdc18	UTSW	5	108,360,054 (GRCm39)	missense	probably benign
R1663:Ccdc18	UTSW	5	108,363,956 (GRCm39)	missense	probably damaging	1.00
R1865:Ccdc18	UTSW	5	108,341,668 (GRCm39)	missense	probably benign	0.00
R1870:Ccdc18	UTSW	5	108,368,703 (GRCm39)	missense	possibly damaging	0.90
R1897:Ccdc18	UTSW	5	108,343,908 (GRCm39)	missense	probably benign	0.00
R1946:Ccdc18	UTSW	5	108,376,861 (GRCm39)	missense	probably damaging	1.00
R2420:Ccdc18	UTSW	5	108,376,454 (GRCm39)	missense	probably damaging	0.96
R2421:Ccdc18	UTSW	5	108,376,454 (GRCm39)	missense	probably damaging	0.96
R2422:Ccdc18	UTSW	5	108,376,454 (GRCm39)	missense	probably damaging	0.96
R4078:Ccdc18	UTSW	5	108,306,394 (GRCm39)	nonsense	probably null
R4079:Ccdc18	UTSW	5	108,306,394 (GRCm39)	nonsense	probably null
R4244:Ccdc18	UTSW	5	108,296,838 (GRCm39)	nonsense	probably null
R4409:Ccdc18	UTSW	5	108,368,708 (GRCm39)	nonsense	probably null
R4428:Ccdc18	UTSW	5	108,283,943 (GRCm39)	missense	probably benign	0.01
R4455:Ccdc18	UTSW	5	108,309,395 (GRCm39)	missense	possibly damaging	0.68
R4499:Ccdc18	UTSW	5	108,376,826 (GRCm39)	missense	possibly damaging	0.62
R4612:Ccdc18	UTSW	5	108,283,307 (GRCm39)	missense	probably benign	0.01
R4907:Ccdc18	UTSW	5	108,284,007 (GRCm39)	missense	probably benign	0.01
R4972:Ccdc18	UTSW	5	108,339,869 (GRCm39)	missense	probably benign
R5039:Ccdc18	UTSW	5	108,306,514 (GRCm39)	critical splice donor site	probably null
R5835:Ccdc18	UTSW	5	108,288,740 (GRCm39)	missense	possibly damaging	0.94
R5854:Ccdc18	UTSW	5	108,354,594 (GRCm39)	missense	possibly damaging	0.79
R6128:Ccdc18	UTSW	5	108,311,625 (GRCm39)	missense	possibly damaging	0.76
R6229:Ccdc18	UTSW	5	108,319,484 (GRCm39)	missense	probably benign	0.00
R6271:Ccdc18	UTSW	5	108,322,753 (GRCm39)	missense	possibly damaging	0.65
R6315:Ccdc18	UTSW	5	108,309,448 (GRCm39)	missense	probably benign
R6359:Ccdc18	UTSW	5	108,283,391 (GRCm39)	missense	probably damaging	1.00
R6375:Ccdc18	UTSW	5	108,322,820 (GRCm39)	missense	possibly damaging	0.79
R6388:Ccdc18	UTSW	5	108,349,214 (GRCm39)	missense	possibly damaging	0.81
R6415:Ccdc18	UTSW	5	108,309,612 (GRCm39)	missense	probably benign	0.03
R6560:Ccdc18	UTSW	5	108,339,790 (GRCm39)	missense	probably benign	0.09
R6645:Ccdc18	UTSW	5	108,286,796 (GRCm39)	missense	probably benign
R6664:Ccdc18	UTSW	5	108,315,966 (GRCm39)	nonsense	probably null
R6836:Ccdc18	UTSW	5	108,345,833 (GRCm39)	missense	probably damaging	1.00
R6947:Ccdc18	UTSW	5	108,309,401 (GRCm39)	missense	probably benign	0.26
R7009:Ccdc18	UTSW	5	108,321,728 (GRCm39)	critical splice donor site	probably null
R7052:Ccdc18	UTSW	5	108,309,554 (GRCm39)	missense	probably benign	0.15
R7058:Ccdc18	UTSW	5	108,341,664 (GRCm39)	missense	probably benign
R7087:Ccdc18	UTSW	5	108,343,988 (GRCm39)	missense	probably benign
R7117:Ccdc18	UTSW	5	108,296,835 (GRCm39)	missense	possibly damaging	0.95
R7176:Ccdc18	UTSW	5	108,315,972 (GRCm39)	missense	probably benign
R7382:Ccdc18	UTSW	5	108,286,873 (GRCm39)	missense	probably damaging	1.00
R7477:Ccdc18	UTSW	5	108,368,716 (GRCm39)	missense	probably damaging	0.98
R7493:Ccdc18	UTSW	5	108,354,483 (GRCm39)	nonsense	probably null
R7506:Ccdc18	UTSW	5	108,311,605 (GRCm39)	missense	possibly damaging	0.85
R7635:Ccdc18	UTSW	5	108,376,915 (GRCm39)	critical splice donor site	probably null
R7690:Ccdc18	UTSW	5	108,376,528 (GRCm39)	missense	probably benign	0.00
R7748:Ccdc18	UTSW	5	108,296,907 (GRCm39)	critical splice donor site	probably null
R7812:Ccdc18	UTSW	5	108,328,699 (GRCm39)	missense	probably benign	0.00
R8017:Ccdc18	UTSW	5	108,376,511 (GRCm39)	nonsense	probably null
R8019:Ccdc18	UTSW	5	108,376,511 (GRCm39)	nonsense	probably null
R8172:Ccdc18	UTSW	5	108,311,640 (GRCm39)	critical splice donor site	probably null
R8177:Ccdc18	UTSW	5	108,345,661 (GRCm39)	missense	possibly damaging	0.65
R8344:Ccdc18	UTSW	5	108,309,369 (GRCm39)	missense	possibly damaging	0.88
R8351:Ccdc18	UTSW	5	108,303,663 (GRCm39)	missense	probably damaging	1.00
R8415:Ccdc18	UTSW	5	108,363,899 (GRCm39)	missense	probably damaging	1.00
R8451:Ccdc18	UTSW	5	108,303,663 (GRCm39)	missense	probably damaging	1.00
R8547:Ccdc18	UTSW	5	108,345,725 (GRCm39)	missense	probably damaging	1.00
R8725:Ccdc18	UTSW	5	108,328,283 (GRCm39)	missense	possibly damaging	0.66
R9137:Ccdc18	UTSW	5	108,296,856 (GRCm39)	missense	probably damaging	0.98
R9391:Ccdc18	UTSW	5	108,376,770 (GRCm39)	missense	probably benign	0.02
R9418:Ccdc18	UTSW	5	108,303,669 (GRCm39)	missense	probably damaging	1.00
R9536:Ccdc18	UTSW	5	108,286,792 (GRCm39)	missense	probably benign	0.01
R9565:Ccdc18	UTSW	5	108,339,800 (GRCm39)	missense	probably damaging	0.99
RF013:Ccdc18	UTSW	5	108,368,582 (GRCm39)	missense	probably benign	0.05
X0024:Ccdc18	UTSW	5	108,339,788 (GRCm39)	missense	probably benign	0.01
X0063:Ccdc18	UTSW	5	108,360,063 (GRCm39)	missense	probably benign

Posted On

2015-12-18