Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02167:Ccdc9'

282743

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc9

Ensembl Gene

ENSMUSG00000041375

Gene Name

coiled-coil domain containing 9

Synonyms

2600011L02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02167

Quality Score

Status

Chromosome

Chromosomal Location

16007967-16020720 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 16018284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 8 (L8*)

Ref Sequence

ENSEMBL: ENSMUSP00000133798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041010] [ENSMUST00000118976] [ENSMUST00000145519] [ENSMUST00000174270] [ENSMUST00000148741] [ENSMUST00000146609] [ENSMUST00000150528]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000041010
AA Change: L8*

SMART Domains

Protein: ENSMUSP00000035597
Gene: ENSMUSG00000041375
AA Change: L8*

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 null
Transcript: ENSMUST00000118976
AA Change: L8*

SMART Domains

Protein: ENSMUSP00000114088
Gene: ENSMUSG00000041375
AA Change: L8*

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: ENSMUST00000137993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144186

Predicted Effect

probably null
Transcript: ENSMUST00000145519
AA Change: L8*

Predicted Effect

probably null
Transcript: ENSMUST00000174270
AA Change: L8*

SMART Domains

Protein: ENSMUSP00000133798
Gene: ENSMUSG00000041375
AA Change: L8*

Domain	Start	End	E-Value	Type
coiled coil region	5	52	N/A	INTRINSIC
low complexity region	75	95	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148741
AA Change: L8*

Predicted Effect

probably benign
Transcript: ENSMUST00000146609

Predicted Effect

probably benign
Transcript: ENSMUST00000150528

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,122,721 (GRCm39)		probably benign	Het
Cacna1f	T	C	X: 7,482,258 (GRCm39)	Y581H	probably damaging	Het
Camsap1	C	T	2: 25,824,312 (GRCm39)	R1416H	probably damaging	Het
Ccdc117	T	C	11: 5,481,333 (GRCm39)	E266G	possibly damaging	Het
Cited2	T	C	10: 17,600,018 (GRCm39)	S109P	probably benign	Het
Cnot4	T	C	6: 35,033,159 (GRCm39)	D286G	possibly damaging	Het
Col5a1	T	C	2: 27,908,568 (GRCm39)	I52T	probably benign	Het
Cry2	T	C	2: 92,264,166 (GRCm39)	N68S	possibly damaging	Het
Cul4a	T	C	8: 13,172,826 (GRCm39)	F153S	probably damaging	Het
Ddr1	T	C	17: 36,000,963 (GRCm39)	S261G	possibly damaging	Het
Depdc5	G	A	5: 33,061,145 (GRCm39)	R324Q	probably damaging	Het
Dmgdh	A	G	13: 93,857,135 (GRCm39)		probably benign	Het
Epha8	A	T	4: 136,658,405 (GRCm39)	M990K	probably damaging	Het
Gpr137c	G	T	14: 45,517,412 (GRCm39)	G383C	probably damaging	Het
Hydin	T	A	8: 111,145,055 (GRCm39)	I802N	possibly damaging	Het
Ifne	A	G	4: 88,798,065 (GRCm39)	Y118H	possibly damaging	Het
Kansl2	T	C	15: 98,431,396 (GRCm39)		probably benign	Het
Lig4	T	A	8: 10,021,821 (GRCm39)	N653I	probably benign	Het
Nagk	A	G	6: 83,778,088 (GRCm39)	D246G	probably damaging	Het
Nav1	A	G	1: 135,398,699 (GRCm39)	S628P	probably damaging	Het
Ncoa3	A	G	2: 165,912,056 (GRCm39)	Y1401C	probably damaging	Het
Ndufa9	A	G	6: 126,821,748 (GRCm39)		probably benign	Het
Nynrin	G	T	14: 56,100,792 (GRCm39)	R194L	probably damaging	Het
Or10a4	A	T	7: 106,696,868 (GRCm39)	R65S	probably benign	Het
Or10ag53	G	A	2: 87,082,542 (GRCm39)	C87Y	probably benign	Het
Or13a17	T	A	7: 140,271,664 (GRCm39)	V282D	probably damaging	Het
Orc2	A	T	1: 58,522,798 (GRCm39)		probably benign	Het
Oxgr1	T	A	14: 120,259,342 (GRCm39)	R288S	probably damaging	Het
Pgap6	T	C	17: 26,338,045 (GRCm39)	S450P	probably damaging	Het
Prkcg	T	C	7: 3,371,097 (GRCm39)		probably null	Het
Prox1	T	C	1: 189,893,477 (GRCm39)	N323D	probably benign	Het
Prrt1	A	C	17: 34,850,829 (GRCm39)	E215A	possibly damaging	Het
Rab2b	T	C	14: 52,506,153 (GRCm39)	D103G	probably damaging	Het
Sardh	G	T	2: 27,081,987 (GRCm39)	N846K	probably damaging	Het
Slc38a8	T	A	8: 120,214,099 (GRCm39)	T248S	probably benign	Het
Slc6a18	T	C	13: 73,814,591 (GRCm39)		probably null	Het
Smcp	T	C	3: 92,491,506 (GRCm39)	T114A	unknown	Het
Trpv1	A	G	11: 73,145,623 (GRCm39)	N754D	probably damaging	Het
Txnrd1	A	T	10: 82,717,745 (GRCm39)	H243L	probably benign	Het
Wdfy3	T	C	5: 102,109,023 (GRCm39)	M125V	probably damaging	Het
Wnk2	T	C	13: 49,224,601 (GRCm39)		probably null	Het
Wrn	T	C	8: 33,807,583 (GRCm39)	M292V	probably damaging	Het
Zbtb17	T	C	4: 141,189,140 (GRCm39)	L20P	possibly damaging	Het
Zfp608	T	C	18: 55,121,296 (GRCm39)	H97R	probably damaging	Het
Zfp68	T	A	5: 138,604,629 (GRCm39)	M565L	probably benign	Het
Zfp687	T	C	3: 94,917,841 (GRCm39)	T644A	probably benign	Het
Zfp777	C	T	6: 48,021,460 (GRCm39)	G54D	probably damaging	Het

Other mutations in Ccdc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Ccdc9	APN	7	16,018,424 (GRCm39)	start codon destroyed	probably null	0.01
IGL02513:Ccdc9	APN	7	16,018,434 (GRCm39)	utr 5 prime	probably benign
IGL02805:Ccdc9	APN	7	16,009,199 (GRCm39)	missense	probably benign	0.01
R0537:Ccdc9	UTSW	7	16,014,701 (GRCm39)	unclassified	probably benign
R0631:Ccdc9	UTSW	7	16,012,384 (GRCm39)	missense	probably damaging	1.00
R1340:Ccdc9	UTSW	7	16,009,315 (GRCm39)	unclassified	probably benign
R1758:Ccdc9	UTSW	7	16,010,161 (GRCm39)	missense	probably damaging	0.99
R2067:Ccdc9	UTSW	7	16,012,475 (GRCm39)	splice site	probably null
R2207:Ccdc9	UTSW	7	16,018,194 (GRCm39)	critical splice donor site	probably benign
R5278:Ccdc9	UTSW	7	16,012,306 (GRCm39)	nonsense	probably null
R5371:Ccdc9	UTSW	7	16,014,655 (GRCm39)	missense	probably damaging	1.00
R7341:Ccdc9	UTSW	7	16,014,552 (GRCm39)	missense	probably damaging	1.00
R7526:Ccdc9	UTSW	7	16,016,325 (GRCm39)	missense	probably damaging	0.98
R7556:Ccdc9	UTSW	7	16,018,491 (GRCm39)	intron	probably benign
R7683:Ccdc9	UTSW	7	16,018,287 (GRCm39)	missense	probably damaging	1.00
R8673:Ccdc9	UTSW	7	16,018,286 (GRCm39)	missense	probably damaging	1.00
R9262:Ccdc9	UTSW	7	16,012,400 (GRCm39)	missense	probably benign	0.01
R9322:Ccdc9	UTSW	7	16,012,360 (GRCm39)	missense	probably damaging	0.99
R9481:Ccdc9	UTSW	7	16,016,761 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16