Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02805:Ccdc189'

360391

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc189

Ensembl Gene

ENSMUSG00000057176

Gene Name

coiled-coil domain containing 189

Synonyms

LOC233899, Gm166

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02805

Quality Score

Status

Chromosome

Chromosomal Location

127582383-127588595 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127586394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 121 (D121G)

Ref Sequence

ENSEMBL: ENSMUSP00000072019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033086] [ENSMUST00000033088] [ENSMUST00000072155] [ENSMUST00000121004] [ENSMUST00000146383] [ENSMUST00000154891] [ENSMUST00000205633] [ENSMUST00000205694] [ENSMUST00000206914]

AlphaFold

Q6NZQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000033086

SMART Domains

Protein: ENSMUSP00000033086
Gene: ENSMUSG00000030815

Domain	Start	End	E-Value	Type
S_TKc	24	291	6.4e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000033088

SMART Domains

Protein: ENSMUSP00000033088
Gene: ENSMUSG00000030816

Domain	Start	End	E-Value	Type
coiled coil region	55	86	N/A	INTRINSIC
coiled coil region	189	209	N/A	INTRINSIC
coiled coil region	231	377	N/A	INTRINSIC
coiled coil region	437	525	N/A	INTRINSIC
low complexity region	565	576	N/A	INTRINSIC
coiled coil region	629	760	N/A	INTRINSIC
coiled coil region	800	839	N/A	INTRINSIC
RING	948	986	1.86e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072155
AA Change: D121G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072019
Gene: ENSMUSG00000057176
AA Change: D121G

Domain	Start	End	E-Value	Type
Pfam:CLAMP	130	228	3.1e-37	PFAM
low complexity region	243	274	N/A	INTRINSIC
coiled coil region	285	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121004

SMART Domains

Protein: ENSMUSP00000113533
Gene: ENSMUSG00000030815

Domain	Start	End	E-Value	Type
S_TKc	24	291	6.4e-104	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138158

Predicted Effect

probably benign
Transcript: ENSMUST00000146383

SMART Domains

Protein: ENSMUSP00000115593
Gene: ENSMUSG00000030815

Domain	Start	End	E-Value	Type
Pfam:Pkinase	24	85	8.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149853

Predicted Effect

probably benign
Transcript: ENSMUST00000154891

SMART Domains

Protein: ENSMUSP00000116860
Gene: ENSMUSG00000030815

Domain	Start	End	E-Value	Type
Pfam:Pkinase	24	78	4.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205633

Predicted Effect

probably benign
Transcript: ENSMUST00000205694

Predicted Effect

probably benign
Transcript: ENSMUST00000205839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206057

Predicted Effect

probably benign
Transcript: ENSMUST00000206914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206891

Predicted Effect

probably benign
Transcript: ENSMUST00000206818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206220

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,223,133		probably benign	Het
Ankdd1b	A	G	13: 96,444,302	S163P	probably benign	Het
Ap5z1	G	A	5: 142,470,283		probably benign	Het
Asb14	A	G	14: 26,901,187	N172S	possibly damaging	Het
Avil	G	A	10: 127,007,617	V139I	possibly damaging	Het
C130073F10Rik	A	T	4: 101,890,974	M1K	probably null	Het
Ccdc33	T	A	9: 58,098,591	I37F	probably benign	Het
Ccdc9	T	C	7: 16,275,274	M550V	probably benign	Het
Cgn	T	A	3: 94,774,377	L469F	probably damaging	Het
Dnaaf3	C	T	7: 4,523,705	G458R	possibly damaging	Het
Dscaml1	T	A	9: 45,447,897	N151K	probably damaging	Het
Dsel	A	G	1: 111,862,316	V163A	probably damaging	Het
Dusp27	T	C	1: 166,099,061	E994G	probably damaging	Het
Epg5	A	G	18: 78,030,191		probably benign	Het
Fanca	A	T	8: 123,289,494	I670N	probably damaging	Het
Fsip2	T	C	2: 82,993,495	V6524A	probably benign	Het
Gm10985	T	C	3: 53,845,093		probably null	Het
Gm1818	C	T	12: 48,555,735		noncoding transcript	Het
Hars2	C	T	18: 36,787,577	R158*	probably null	Het
Htr5b	A	G	1: 121,527,888	V101A	probably damaging	Het
Ipp	A	G	4: 116,529,688	I356V	possibly damaging	Het
Itga8	T	A	2: 12,189,480	N703I	possibly damaging	Het
Olfr147	T	A	9: 38,403,836		probably benign	Het
Ppp6r3	T	C	19: 3,492,428	N406D	probably benign	Het
Rbbp6	G	A	7: 123,001,188		probably benign	Het
Rgs7	T	C	1: 175,149,696	Y114C	probably damaging	Het
Ripor1	A	G	8: 105,617,571	T446A	probably damaging	Het
Rnf213	A	G	11: 119,435,066	D1562G	probably damaging	Het
Scaf11	A	T	15: 96,420,182	D500E	possibly damaging	Het
Spock1	A	G	13: 57,907,577	I4T	possibly damaging	Het
Srebf2	C	A	15: 82,169,844	N35K	probably benign	Het
Srgap3	G	T	6: 112,727,263	H922N	probably damaging	Het
Stk32c	A	C	7: 139,121,846	H112Q	probably damaging	Het
Thumpd3	A	G	6: 113,066,797	D391G	probably damaging	Het
Vmn2r38	T	A	7: 9,075,547	H612L	probably damaging	Het
Vsig10l	T	G	7: 43,465,242	I289S	probably damaging	Het
Wwox	G	A	8: 114,712,013	G273E	probably damaging	Het
Zscan4d	T	G	7: 11,164,970		probably benign	Het

Other mutations in Ccdc189

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Ccdc189	APN	7	127585038	missense	probably damaging	0.99
R0197:Ccdc189	UTSW	7	127584862	missense	probably damaging	0.98
R0883:Ccdc189	UTSW	7	127584862	missense	probably damaging	0.98
R1695:Ccdc189	UTSW	7	127587573	splice site	probably null
R1699:Ccdc189	UTSW	7	127586856	splice site	probably null
R4230:Ccdc189	UTSW	7	127586830	missense	probably benign	0.18
R4427:Ccdc189	UTSW	7	127588116	unclassified	probably benign
R4592:Ccdc189	UTSW	7	127585491	missense	probably benign	0.01
R7741:Ccdc189	UTSW	7	127587987	missense	probably benign	0.00
R7920:Ccdc189	UTSW	7	127587953	missense	probably benign	0.00
R8228:Ccdc189	UTSW	7	127585007	missense	probably benign	0.41
R9478:Ccdc189	UTSW	7	127584915	critical splice acceptor site	probably null
X0021:Ccdc189	UTSW	7	127585521	missense	probably damaging	1.00

Posted On

2015-12-18