Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02543:Cep85'

298303

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep85

Ensembl Gene

ENSMUSG00000037443

Gene Name

centrosomal protein 85

Synonyms

2410030J07Rik, Ccdc21

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.946) question?

Stock #

IGL02543

Quality Score

Status

Chromosome

Chromosomal Location

134129858-134187112 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134156323 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 85 (H85R)

Ref Sequence

ENSEMBL: ENSMUSP00000113351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040271] [ENSMUST00000121566] [ENSMUST00000137388]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040271
AA Change: H85R

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: H85R

Domain	Start	End	E-Value	Type
coiled coil region	333	656	N/A	INTRINSIC
coiled coil region	725	749	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121566
AA Change: H85R

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: H85R

Domain	Start	End	E-Value	Type
coiled coil region	331	654	N/A	INTRINSIC
coiled coil region	723	747	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145531

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,918,095	A193S	probably damaging	Het
Adcy4	T	C	14: 55,769,170	T1069A	probably benign	Het
Arg2	A	T	12: 79,150,759	I184F	probably benign	Het
Asb18	G	A	1: 90,014,391	P63S	probably damaging	Het
Cd163l1	A	G	7: 140,220,578	M91V	probably benign	Het
Chfr	A	G	5: 110,143,547		probably null	Het
Cog2	A	G	8: 124,529,959	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,461,068	T162A	probably damaging	Het
Ddi1	C	T	9: 6,266,183	G62D	possibly damaging	Het
Dhx33	T	C	11: 70,987,240	Y435C	probably damaging	Het
Dsc3	A	T	18: 19,965,828	C765S	probably benign	Het
Egfem1	T	A	3: 29,668,380	D362E	probably benign	Het
Gm10093	A	G	17: 78,491,874	E98G	probably damaging	Het
Gm28040	A	T	1: 133,319,331	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,299,043	M22T	probably benign	Het
Hipk2	A	G	6: 38,703,501	I968T	possibly damaging	Het
Hlx	T	G	1: 184,730,751	S235R	probably damaging	Het
Jag1	T	C	2: 137,091,947		probably benign	Het
Kdr	A	G	5: 75,964,947		probably benign	Het
Klhl3	T	C	13: 58,018,871	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,461,612		probably benign	Het
Large1	T	A	8: 73,048,414	M223L	probably benign	Het
Lrp1b	T	C	2: 40,870,401	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,108,571	D582G	probably benign	Het
Nedd9	T	C	13: 41,316,735	D314G	probably damaging	Het
Nip7	T	C	8: 107,058,193		probably benign	Het
Olfr1408	T	G	1: 173,130,334	K294N	probably damaging	Het
Olfr629	A	T	7: 103,740,503	C246S	possibly damaging	Het
Olfr8	C	A	10: 78,955,939	H245N	probably damaging	Het
P3h1	T	C	4: 119,237,856		probably benign	Het
Pcp4l1	C	T	1: 171,175,564		probably benign	Het
Plekhm2	C	T	4: 141,642,019	G118D	probably benign	Het
Prkg1	T	C	19: 30,624,734	D374G	possibly damaging	Het
Ptcd1	A	G	5: 145,154,687	L534P	possibly damaging	Het
Rnf123	A	G	9: 108,066,348	S563P	probably damaging	Het
Sdk2	A	T	11: 113,868,921	I418N	possibly damaging	Het
Slc26a4	A	G	12: 31,528,689	I655T	possibly damaging	Het
Syne1	T	C	10: 5,043,618	K524R	probably damaging	Het
Tanc1	G	T	2: 59,833,258	G1120C	probably damaging	Het
Tbc1d22a	C	T	15: 86,239,171	A135V	probably benign	Het
Tenm3	A	C	8: 48,298,956	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,165,103	V1247I	probably benign	Het
Treml1	A	G	17: 48,360,431	T115A	possibly damaging	Het
Ttn	T	C	2: 76,709,962	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,423,483	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,524,904	G285D	probably damaging	Het
Vmn2r76	A	G	7: 86,230,148	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,065,821	S194A	probably benign	Het
Wdr1	G	A	5: 38,545,822	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,558,896		probably benign	Het
Zfp668	A	T	7: 127,868,322	C27*	probably null	Het

Other mutations in Cep85

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Cep85	APN	4	134148761	missense	possibly damaging	0.63
IGL01397:Cep85	APN	4	134156206	missense	probably damaging	1.00
IGL01472:Cep85	APN	4	134134166	missense	possibly damaging	0.55
IGL01522:Cep85	APN	4	134152255	missense	probably damaging	1.00
IGL01522:Cep85	APN	4	134152256	missense	probably damaging	1.00
IGL02004:Cep85	APN	4	134167387	missense	probably damaging	1.00
IGL02043:Cep85	APN	4	134155727	missense	probably benign	0.02
IGL02187:Cep85	APN	4	134131305	missense	possibly damaging	0.86
IGL02317:Cep85	APN	4	134155811	missense	probably damaging	1.00
1mM(1):Cep85	UTSW	4	134156264	missense	possibly damaging	0.88
PIT4468001:Cep85	UTSW	4	134148697	missense	probably damaging	1.00
R0060:Cep85	UTSW	4	134167300	missense	probably damaging	1.00
R0068:Cep85	UTSW	4	134154295	missense	probably benign	0.00
R0346:Cep85	UTSW	4	134132422	missense	probably damaging	1.00
R0462:Cep85	UTSW	4	134131421	missense	possibly damaging	0.88
R1295:Cep85	UTSW	4	134167400	missense	probably damaging	1.00
R1296:Cep85	UTSW	4	134167400	missense	probably damaging	1.00
R1472:Cep85	UTSW	4	134167400	missense	probably damaging	1.00
R1577:Cep85	UTSW	4	134152288	missense	probably damaging	1.00
R1681:Cep85	UTSW	4	134148728	nonsense	probably null
R1687:Cep85	UTSW	4	134148013	missense	probably benign	0.00
R2031:Cep85	UTSW	4	134132450	missense	probably benign	0.00
R2216:Cep85	UTSW	4	134131430	missense	possibly damaging	0.62
R2220:Cep85	UTSW	4	134153867	missense	probably damaging	1.00
R4321:Cep85	UTSW	4	134132285	missense	probably damaging	1.00
R4888:Cep85	UTSW	4	134164751	intron	probably benign
R5044:Cep85	UTSW	4	134156179	missense	probably damaging	0.97
R5075:Cep85	UTSW	4	134132367	missense	probably damaging	1.00
R5627:Cep85	UTSW	4	134134097	missense	probably damaging	1.00
R6841:Cep85	UTSW	4	134155856	missense	probably benign
R6842:Cep85	UTSW	4	134155856	missense	probably benign
R6843:Cep85	UTSW	4	134155856	missense	probably benign
R6981:Cep85	UTSW	4	134152261	missense	probably damaging	1.00
R7252:Cep85	UTSW	4	134148031	missense	probably benign	0.12
R7869:Cep85	UTSW	4	134132298	missense	probably damaging	0.99
R7952:Cep85	UTSW	4	134132298	missense	probably damaging	0.99
V8831:Cep85	UTSW	4	134156069	missense	possibly damaging	0.94

Posted On

2015-04-16