Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Cep85'

88289

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep85

Ensembl Gene

ENSMUSG00000037443

Gene Name

centrosomal protein 85

Synonyms

2410030J07Rik, Ccdc21

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

134129858-134187112 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134134166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 599 (Q599R)

Ref Sequence

ENSEMBL: ENSMUSP00000113351 (fasta)

Gene Model

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

AlphaFold

Q8BMK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040271
AA Change: Q601R

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: Q601R

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: Q599R

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: Q599R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138144

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,554,536		probably null	Het
Adamts4	T	C	1: 171,252,850	F324S	probably damaging	Het
Alg10b	T	A	15: 90,227,697	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,027,499	T90S	probably benign	Het
Arhgap21	C	T	2: 20,849,581	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,275,423	D803A	probably damaging	Het
Bzw2	T	C	12: 36,109,796	D185G	probably damaging	Het
Camta2	A	G	11: 70,684,124	S62P	probably damaging	Het
Chsy3	G	A	18: 59,176,367	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,375,348	R457W	probably damaging	Het
Col20a1	A	G	2: 181,007,832	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,506,878	Y494H	probably damaging	Het
Cox15	G	T	19: 43,743,665	Y237*	probably null	Het
Cpne9	C	A	6: 113,293,022	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,364,316		noncoding transcript	Het
Dnah5	C	T	15: 28,331,726	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,715,610	I267T	possibly damaging	Het
Fat4	G	A	3: 38,888,070	A371T	probably damaging	Het
Gm1818	T	C	12: 48,556,289		noncoding transcript	Het
Gm5592	T	C	7: 41,286,074		probably benign	Het
Golga4	C	A	9: 118,532,574	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,651,054		probably benign	Het
Hao1	C	T	2: 134,554,230	E35K	probably benign	Het
Iqch	T	C	9: 63,547,934	I194V	probably benign	Het
Ism1	A	T	2: 139,757,303	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,428,153	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,597,549	C718R	probably damaging	Het
Lyar	T	G	5: 38,224,722	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,355,553		probably benign	Het
Mtus1	T	C	8: 41,002,412	T941A	probably benign	Het
Myh8	A	G	11: 67,288,379		probably benign	Het
Myof	T	C	19: 37,923,076	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133	A534D	probably damaging	Het
Oas1c	A	G	5: 120,802,921	V269A	probably damaging	Het
Odf2	T	A	2: 29,893,059	S5T	probably damaging	Het
Olfr1163	T	A	2: 88,070,978	T135S	possibly damaging	Het
Olfr1412	T	A	1: 92,588,972	M214K	possibly damaging	Het
Olfr481	T	C	7: 108,081,204	S137P	probably benign	Het
Pbk	A	G	14: 65,816,710	T235A	probably benign	Het
Phrf1	T	C	7: 141,256,490		probably benign	Het
Prkci	A	G	3: 31,050,192	D568G	probably damaging	Het
Prom2	T	A	2: 127,532,882	Y578F	probably benign	Het
Prph	T	C	15: 99,058,593		probably benign	Het
Ryr3	A	G	2: 112,672,248	V3527A	probably benign	Het
Scn10a	C	T	9: 119,617,763	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,091,652	L244P	probably damaging	Het
Tardbp	A	G	4: 148,622,064	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,489,864	E504*	probably null	Het
Tmed3	T	C	9: 89,702,875	E109G	probably benign	Het
Tnc	C	T	4: 64,006,419	R1014H	probably benign	Het
Tpcn2	C	T	7: 145,267,378	R313Q	probably damaging	Het
Trim45	A	G	3: 100,928,065	T455A	probably benign	Het
Txlna	A	G	4: 129,632,115	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,501,989	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,216,314	E579*	probably null	Het
Wrn	T	A	8: 33,329,172	I8F	possibly damaging	Het
Zc3h18	A	G	8: 122,416,657		probably benign	Het
Zfyve26	A	T	12: 79,276,343	H876Q	probably benign	Het
Znrf2	C	T	6: 54,863,972	T177I	probably damaging	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
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
IGL02543:Cep85	APN	4	134156323	missense	possibly damaging	0.52
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
R8057:Cep85	UTSW	4	134153614	unclassified	probably benign
R8194:Cep85	UTSW	4	134134089	missense	probably null	0.00
R8733:Cep85	UTSW	4	134148161	missense	possibly damaging	0.87
R8928:Cep85	UTSW	4	134132404	missense	probably benign	0.00
R9430:Cep85	UTSW	4	134167354	missense	probably damaging	1.00
R9550:Cep85	UTSW	4	134131287	missense	probably damaging	1.00
V8831:Cep85	UTSW	4	134156069	missense	possibly damaging	0.94

Posted On

2013-11-18