Mutagenetix > Incidental Mutation

Incidental Mutation 'R2220:Cep85'

241416

Institutional Source

Beutler Lab

Gene Symbol

Cep85

Ensembl Gene

ENSMUSG00000037443

Gene Name

centrosomal protein 85

Synonyms

2410030J07Rik, Ccdc21

MMRRC Submission

040222-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R2220 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134129858-134187112 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134153867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 363 (H363R)

Ref Sequence

ENSEMBL: ENSMUSP00000113351 (fasta)

Gene Model

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

AlphaFold

Q8BMK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040271
AA Change: H365R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: H365R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121566
AA Change: H363R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: H363R

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,875,530		probably null	Het
Aadacl4	T	C	4: 144,618,002	I116T	probably damaging	Het
Aatk	G	T	11: 120,012,177	F407L	probably damaging	Het
Abca8a	A	T	11: 110,026,855	L1586Q	probably damaging	Het
Aox2	A	G	1: 58,349,130		probably null	Het
Ap5m1	A	G	14: 49,081,095	D420G	probably damaging	Het
Bcl6	A	T	16: 23,972,632	L324*	probably null	Het
Bicc1	A	G	10: 70,950,125	S396P	probably damaging	Het
Ccdc83	G	A	7: 90,259,514	S4L	probably damaging	Het
Cdkal1	T	A	13: 29,354,758	M473L	probably benign	Het
Cfap61	G	A	2: 146,036,816		probably null	Het
Cfap65	T	C	1: 74,904,025	I1614V	probably damaging	Het
Cluh	T	A	11: 74,667,121	F1062I	probably damaging	Het
Cntnap5a	A	T	1: 116,580,639	T1294S	possibly damaging	Het
Cops8	A	C	1: 90,606,619	N94T	probably benign	Het
Csmd1	T	C	8: 15,992,641	D2364G	possibly damaging	Het
Cyb5d1	T	C	11: 69,395,045	D55G	probably benign	Het
Cyp2c29	A	T	19: 39,287,232	I39F	probably benign	Het
Cyp2j8	T	C	4: 96,444,625	S495G	probably benign	Het
Dhx30	A	G	9: 110,087,635	L575P	probably damaging	Het
Dnah7a	C	T	1: 53,521,174	V2113I	probably benign	Het
Dusp3	T	C	11: 101,974,805	N95D	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam208b	A	T	13: 3,581,872	N876K	probably benign	Het
Fer1l4	T	G	2: 156,031,764	Y1207S	probably damaging	Het
Flg2	T	G	3: 93,202,185	S507A	unknown	Het
Gdf6	A	G	4: 9,844,770	H98R	probably damaging	Het
Ggnbp2	T	C	11: 84,836,613	N63S	possibly damaging	Het
Ggt7	A	G	2: 155,495,719	S504P	probably damaging	Het
Gm14548	A	T	7: 3,897,489	N87K	probably benign	Het
Gtf2h5	G	A	17: 6,084,578	E48K	probably benign	Het
Hivep3	T	G	4: 119,734,038	V81G	possibly damaging	Het
Igsf21	A	G	4: 140,028,114	M410T	probably damaging	Het
Insrr	T	C	3: 87,809,418	L651P	probably damaging	Het
Iqcb1	A	T	16: 36,843,462		probably null	Het
Klhdc7a	G	A	4: 139,965,453	R728C	probably benign	Het
Lars2	T	C	9: 123,418,780	L334P	probably damaging	Het
Mast3	T	C	8: 70,780,963	E994G	probably damaging	Het
Mertk	T	A	2: 128,801,472	N930K	probably benign	Het
Mettl21a	A	T	1: 64,616,283	V46E	probably damaging	Het
Nedd4	T	A	9: 72,736,707	C614S	probably damaging	Het
Olfr168	A	T	16: 19,530,145	Y258*	probably null	Het
Olfr173	G	T	16: 58,797,624	A74D	possibly damaging	Het
Olfr525	T	C	7: 140,323,571	S291P	probably benign	Het
Pard3b	C	T	1: 62,479,683	R976*	probably null	Het
Pcdhb16	A	G	18: 37,478,967	T327A	probably benign	Het
Ppp1r37	C	A	7: 19,532,446	R465L	probably null	Het
Ppp3ca	C	A	3: 136,797,924	T86K	probably damaging	Het
Ralgapa2	G	A	2: 146,421,679	T706I	probably benign	Het
Rnf213	T	C	11: 119,436,428	L1747P	possibly damaging	Het
Slc11a1	T	A	1: 74,380,665	F166I	probably damaging	Het
Slc25a18	G	A	6: 120,793,557		probably null	Het
Stt3a	A	G	9: 36,749,551		probably null	Het
Supt16	G	A	14: 52,172,144	R770*	probably null	Het
Syde2	A	G	3: 146,001,958	I551V	probably benign	Het
Tecta	T	C	9: 42,392,030	D102G	probably damaging	Het
Tmc7	A	T	7: 118,552,816	I294N	possibly damaging	Het
Tmem174	T	C	13: 98,637,259	Y21C	probably damaging	Het
Tomm40l	A	T	1: 171,221,981	L13*	probably null	Het
Trim30c	A	G	7: 104,383,267	V284A	probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Uggt2	A	T	14: 119,075,337	N353K	probably damaging	Het
Vps13d	C	T	4: 145,178,320	V79M	probably damaging	Het
Wfdc18	C	T	11: 83,709,913	R45*	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAAGTGCTCAGCAAAGTTTAAGATG -3'
(R):5'- AGAGCATACATAGCTGCCTTCC -3'

Sequencing Primer
(F):5'- GTTTTCTCTTTAAGGATAGGACACC -3'
(R):5'- ATAGCTGCCTTCCAAACTGTGATG -3'

Posted On

2014-10-15