Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01718:Ccdc18'

105009

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 #

IGL01718

Quality Score

Status

Chromosome

Chromosomal Location

108280741-108381494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108349214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1002 (D1002G)

Ref Sequence

ENSEMBL: ENSMUSP00000036507 (fasta)

Gene Model

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

AlphaFold

Q640L5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047677
AA Change: D1002G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: D1002G

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

Meta Mutation Damage Score

0.0934

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a3	A	G	7: 66,049,953 (GRCm39)	F422L	possibly damaging	Het
Ap2m1	T	C	16: 20,360,944 (GRCm39)		probably benign	Het
Asic1	A	G	15: 99,569,883 (GRCm39)	Y68C	probably damaging	Het
Cyp2c29	A	T	19: 39,318,704 (GRCm39)	I434F	possibly damaging	Het
Diaph3	T	A	14: 86,893,774 (GRCm39)	R78S	unknown	Het
Dnase1l2	T	C	17: 24,660,690 (GRCm39)	D188G	possibly damaging	Het
Exosc9	T	C	3: 36,608,078 (GRCm39)		probably benign	Het
Fgf23	G	A	6: 127,057,436 (GRCm39)	V251I	probably benign	Het
Fndc3c1	T	C	X: 105,489,534 (GRCm39)	T296A	probably benign	Het
Gm5592	A	G	7: 40,938,617 (GRCm39)	E633G	probably damaging	Het
Gpr155	T	C	2: 73,212,576 (GRCm39)	M16V	probably benign	Het
Jakmip3	T	G	7: 138,591,121 (GRCm39)	S2A	possibly damaging	Het
Lrba	T	A	3: 86,258,555 (GRCm39)	N1347K	probably damaging	Het
Mars1	T	C	10: 127,141,707 (GRCm39)	R266G	possibly damaging	Het
Mplkipl1	A	G	19: 61,164,199 (GRCm39)	S79P	probably damaging	Het
Mrgpra1	A	T	7: 46,985,675 (GRCm39)		probably null	Het
Or7g20	T	A	9: 18,946,584 (GRCm39)	L55*	probably null	Het
Pdzk1ip1	T	A	4: 114,950,111 (GRCm39)		probably benign	Het
Ppid	G	T	3: 79,500,986 (GRCm39)	C52F	probably damaging	Het
Reln	A	G	5: 22,152,512 (GRCm39)	I2318T	possibly damaging	Het
Rhpn2	G	A	7: 35,070,179 (GRCm39)	D146N	probably benign	Het
Tspoap1	G	T	11: 87,671,081 (GRCm39)	R1670L	possibly damaging	Het
Ttc22	G	A	4: 106,495,773 (GRCm39)	V376M	probably damaging	Het
Ttn	T	A	2: 76,560,746 (GRCm39)	L29218F	probably damaging	Het
Ttn	A	T	2: 76,560,748 (GRCm39)	L29218I	probably damaging	Het
Zfp609	G	A	9: 65,609,682 (GRCm39)	Q1094*	probably null	Het
Zfp831	C	T	2: 174,485,631 (GRCm39)	T102I	possibly damaging	Het
Zglp1	C	T	9: 20,974,675 (GRCm39)	C171Y	probably benign	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
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
IGL02808:Ccdc18	APN	5	108,283,835 (GRCm39)	splice site	probably benign
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

2014-01-21