Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02805:Ccdc9'

360385

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc9

Ensembl Gene

ENSMUSG00000041375

Gene Name

coiled-coil domain containing 9

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02805

Quality Score

Status

Chromosome

Chromosomal Location

16274042-16286795 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16275274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 550 (M550V)

Ref Sequence

ENSEMBL: ENSMUSP00000114088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041010] [ENSMUST00000118976] [ENSMUST00000169612]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041010

SMART Domains

Protein: ENSMUSP00000035597
Gene: ENSMUSG00000041375

Domain	Start	End	E-Value	Type
coiled coil region	5	52	N/A	INTRINSIC
low complexity region	75	95	N/A	INTRINSIC
low complexity region	121	135	N/A	INTRINSIC
coiled coil region	150	184	N/A	INTRINSIC
Pfam:DUF4594	203	378	1.1e-63	PFAM
coiled coil region	425	453	N/A	INTRINSIC
low complexity region	490	507	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118976
AA Change: M550V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000114088
Gene: ENSMUSG00000041375
AA Change: M550V

Domain	Start	End	E-Value	Type
coiled coil region	5	52	N/A	INTRINSIC
low complexity region	75	95	N/A	INTRINSIC
low complexity region	121	135	N/A	INTRINSIC
coiled coil region	150	184	N/A	INTRINSIC
Pfam:DUF4594	204	375	6.3e-57	PFAM
coiled coil region	425	453	N/A	INTRINSIC
low complexity region	490	507	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC
low complexity region	580	588	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131963

Predicted Effect

probably benign
Transcript: ENSMUST00000146085

SMART Domains

Protein: ENSMUSP00000134049
Gene: ENSMUSG00000041375

Domain	Start	End	E-Value	Type
Pfam:DUF4594	1	85	5.2e-16	PFAM
coiled coil region	135	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169612

SMART Domains

Protein: ENSMUSP00000127027
Gene: ENSMUSG00000091811

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:InaF-motif	24	61	2.6e-20	PFAM
low complexity region	104	120	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172670

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
Ccdc189	T	C	7: 127,586,394	D121G	possibly damaging	Het
Ccdc33	T	A	9: 58,098,591	I37F	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 Ccdc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Ccdc9	APN	7	16284499	start codon destroyed	probably null	0.01
IGL02167:Ccdc9	APN	7	16284359	nonsense	probably null
IGL02513:Ccdc9	APN	7	16284509	utr 5 prime	probably benign
R0537:Ccdc9	UTSW	7	16280776	unclassified	probably benign
R0631:Ccdc9	UTSW	7	16278459	missense	probably damaging	1.00
R1340:Ccdc9	UTSW	7	16275390	unclassified	probably benign
R1758:Ccdc9	UTSW	7	16276236	missense	probably damaging	0.99
R2067:Ccdc9	UTSW	7	16278550	splice site	probably null
R2207:Ccdc9	UTSW	7	16284269	critical splice donor site	probably benign
R5278:Ccdc9	UTSW	7	16278381	nonsense	probably null
R5371:Ccdc9	UTSW	7	16280730	missense	probably damaging	1.00
R7341:Ccdc9	UTSW	7	16280627	missense	probably damaging	1.00
R7526:Ccdc9	UTSW	7	16282400	missense	probably damaging	0.98
R7556:Ccdc9	UTSW	7	16284566	intron	probably benign
R7683:Ccdc9	UTSW	7	16284362	missense	probably damaging	1.00
R8673:Ccdc9	UTSW	7	16284361	missense	probably damaging	1.00
R9262:Ccdc9	UTSW	7	16278475	missense	probably benign	0.01
R9322:Ccdc9	UTSW	7	16278435	missense	probably damaging	0.99
R9481:Ccdc9	UTSW	7	16282836	missense	probably damaging	1.00

Posted On

2015-12-18