Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03156:Ccdc159'

411278

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc159

Ensembl Gene

ENSMUSG00000006241

Gene Name

coiled-coil domain containing 159

Synonyms

2510048L02Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03156

Quality Score

Status

Chromosome

Chromosomal Location

21927471-21935872 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 21929475 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 113 (V113L)

Ref Sequence

ENSEMBL: ENSMUSP00000150744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006403] [ENSMUST00000046831] [ENSMUST00000170304] [ENSMUST00000213698] [ENSMUST00000214569] [ENSMUST00000214734] [ENSMUST00000216710]

Predicted Effect

probably benign
Transcript: ENSMUST00000006403
AA Change: V105L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006403
Gene: ENSMUSG00000006241
AA Change: V105L

Domain	Start	End	E-Value	Type
low complexity region	42	52	N/A	INTRINSIC
coiled coil region	152	172	N/A	INTRINSIC
low complexity region	217	227	N/A	INTRINSIC
coiled coil region	261	288	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000046831

SMART Domains

Protein: ENSMUSP00000048832
Gene: ENSMUSG00000040883

Domain	Start	End	E-Value	Type
Pfam:DUF4149	17	119	1.2e-27	PFAM
transmembrane domain	164	186	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170304
AA Change: V113L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126474
Gene: ENSMUSG00000006241
AA Change: V113L

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC
coiled coil region	160	180	N/A	INTRINSIC
low complexity region	225	235	N/A	INTRINSIC
coiled coil region	269	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213698

Predicted Effect

probably benign
Transcript: ENSMUST00000214569

Predicted Effect

probably benign
Transcript: ENSMUST00000214734
AA Change: V113L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215650

Predicted Effect

probably benign
Transcript: ENSMUST00000216710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217589

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	T	19: 11,105,750	I102K	possibly damaging	Het
4930430A15Rik	T	C	2: 111,200,412	D12G	possibly damaging	Het
Abca16	T	C	7: 120,423,851	I70T	possibly damaging	Het
Acot11	A	G	4: 106,754,136	Y365H	probably damaging	Het
Bdp1	A	G	13: 100,061,036	V947A	probably benign	Het
Cep350	T	C	1: 155,858,042	D3035G	probably damaging	Het
Clca1	T	A	3: 145,013,911	I433F	probably damaging	Het
Cntn5	T	C	9: 9,673,877	Y740C	probably damaging	Het
Dennd5a	C	A	7: 109,919,255		probably benign	Het
Des	G	A	1: 75,362,996	E333K	probably damaging	Het
Dnah7a	T	C	1: 53,605,824	R1018G	probably damaging	Het
Eif2b2	G	T	12: 85,219,721	A54S	probably damaging	Het
Gm7276	C	T	18: 77,185,603		probably benign	Het
Hsbp1l1	A	G	18: 80,235,519		probably benign	Het
Iars	G	A	13: 49,703,179	G303S	possibly damaging	Het
Il18r1	A	G	1: 40,498,368	E431G	possibly damaging	Het
Lrrc14b	A	G	13: 74,363,904	V19A	probably benign	Het
Map1lc3a	T	A	2: 155,277,009	I31N	probably damaging	Het
Obscn	T	C	11: 59,054,896	Y4163C	probably damaging	Het
Olfr478	T	A	7: 108,032,351		probably benign	Het
Pcsk1	A	G	13: 75,131,951	T632A	probably benign	Het
Ppp1r15a	A	G	7: 45,525,171	L71P	possibly damaging	Het
Ptgs2	T	G	1: 150,105,477	F504V	probably damaging	Het
Rimbp2	T	G	5: 128,771,757	R908S	probably damaging	Het
Rnh1	T	C	7: 141,163,183	N268S	probably damaging	Het
Sap30l	T	C	11: 57,806,168		probably null	Het
Scara3	C	T	14: 65,931,154	R338H	probably damaging	Het
Serpina12	T	C	12: 104,037,899	Y158C	probably damaging	Het
Tmem237	A	T	1: 59,109,127	D148E	probably damaging	Het
Trmt13	T	C	3: 116,585,802	D232G	probably benign	Het
Zan	T	A	5: 137,463,939	T993S	unknown	Het
Zfp236	G	A	18: 82,680,702	L85F	probably damaging	Het
Zfp352	G	A	4: 90,224,087	D155N	possibly damaging	Het
Zfp867	T	C	11: 59,465,008		probably benign	Het
Zmiz2	T	C	11: 6,399,536	F399L	probably damaging	Het

Other mutations in Ccdc159

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Ccdc159	APN	9	21929469	missense	possibly damaging	0.83
IGL02322:Ccdc159	APN	9	21929373	missense	possibly damaging	0.46
IGL03382:Ccdc159	APN	9	21931696	splice site	probably null
R1622:Ccdc159	UTSW	9	21929370	missense	possibly damaging	0.66
R2076:Ccdc159	UTSW	9	21929506	splice site	probably null
R3905:Ccdc159	UTSW	9	21934519	critical splice donor site	probably null
R4083:Ccdc159	UTSW	9	21929403	missense	possibly damaging	0.83
R4625:Ccdc159	UTSW	9	21929466	missense	probably benign
R4700:Ccdc159	UTSW	9	21927731	splice site	probably null
R5004:Ccdc159	UTSW	9	21932945	missense	probably damaging	1.00
R5743:Ccdc159	UTSW	9	21929390	missense	probably benign	0.19
R6245:Ccdc159	UTSW	9	21935568	missense	probably damaging	0.99
R7263:Ccdc159	UTSW	9	21931711	missense	probably benign	0.04
R8171:Ccdc159	UTSW	9	21933711	missense	possibly damaging	0.82

Posted On

2016-08-02