Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Ccdc18'

293862

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

4932411G06Rik, 1700021E15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

108132875-108233628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108136052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 74 (P74S)

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 damaging
Transcript: ENSMUST00000047677
AA Change: P74S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: P74S

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 damaging
Transcript: ENSMUST00000197718
AA Change: P74S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142963
Gene: ENSMUSG00000056531
AA Change: P74S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200463

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,553,352	N748Y	probably damaging	Het
Actbl2	A	G	13: 111,255,167	D12G	possibly damaging	Het
Adamts10	T	C	17: 33,528,811	S74P	probably benign	Het
Adprhl2	C	T	4: 126,317,908		probably benign	Het
Amn1	A	G	6: 149,169,446		probably null	Het
Antxr1	A	T	6: 87,287,056	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Cabp5	A	T	7: 13,398,344	R13*	probably null	Het
Cacna1e	A	G	1: 154,421,113	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,898,282	E364G	possibly damaging	Het
Clec3a	C	T	8: 114,425,500	S82L	probably benign	Het
Cnih3	A	G	1: 181,406,513	D43G	probably damaging	Het
Dpp10	G	A	1: 123,650,358	T128M	probably damaging	Het
Edar	A	T	10: 58,628,581	F79I	probably damaging	Het
Eif2ak4	T	A	2: 118,420,791	H199Q	probably benign	Het
Fermt1	A	G	2: 132,941,951	L46P	probably damaging	Het
Glipr1	A	G	10: 111,988,894		probably benign	Het
Gsdmc	T	C	15: 63,803,579	N129S	probably damaging	Het
Ift88	T	C	14: 57,481,414	S619P	possibly damaging	Het
Itga9	T	A	9: 118,850,805	V262E	probably benign	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mta1	T	A	12: 113,136,583	I688N	possibly damaging	Het
Muc4	A	T	16: 32,752,076	R651S	probably benign	Het
Olfr109	C	T	17: 37,466,586	P127S	probably damaging	Het
Olfr1342	A	G	4: 118,690,341	L37P	probably damaging	Het
Olfr824	A	G	10: 130,126,904	V51A	possibly damaging	Het
Opcml	A	G	9: 28,675,264	I93V	probably damaging	Het
Parg	T	G	14: 32,262,681		probably null	Het
Rps3a3	A	G	13: 108,670,883		probably benign	Het
Safb	T	A	17: 56,600,813		probably benign	Het
Sat2	G	T	11: 69,622,749	C54F	probably damaging	Het
Scin	T	A	12: 40,077,531	Y420F	probably benign	Het
Slc22a29	A	T	19: 8,169,353	S362T	probably benign	Het
Smchd1	T	C	17: 71,431,259	D537G	probably null	Het
Spred3	A	G	7: 29,166,405	S126P	probably benign	Het
Ssh1	C	T	5: 113,942,517	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,442	E28G	possibly damaging	Het
Stox1	A	T	10: 62,659,676		probably benign	Het
Syn3	T	C	10: 86,064,906	I373V	probably benign	Het
Tecrl	A	T	5: 83,354,827	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,202,710	N1655S	possibly damaging	Het
Usp2	G	T	9: 44,091,227	Q147H	probably damaging	Het
Usp24	T	A	4: 106,407,129	N1751K	possibly damaging	Het
Wipf1	T	A	2: 73,434,143	D438V	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
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
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
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
R8725:Ccdc18	UTSW	5	108180417	missense	possibly damaging	0.66
R9137:Ccdc18	UTSW	5	108148990	missense	probably damaging	0.98
R9391:Ccdc18	UTSW	5	108228904	missense	probably benign	0.02
R9418:Ccdc18	UTSW	5	108155803	missense	probably damaging	1.00
R9536:Ccdc18	UTSW	5	108138926	missense	probably benign	0.01
R9565:Ccdc18	UTSW	5	108191934	missense	probably damaging	0.99
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

Posted On

2015-04-16