Mutagenetix > Incidental Mutation

Incidental Mutation 'R6981:Cep85'

542661

Institutional Source

Beutler Lab

Gene Symbol

Cep85

Ensembl Gene

ENSMUSG00000037443

Gene Name

centrosomal protein 85

Synonyms

2410030J07Rik, Ccdc21

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R6981 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134129858-134187112 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134152261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 392 (R392Q)

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: R394Q

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

SMART Domains

Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: R394Q

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: R392Q

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

SMART Domains

Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: R392Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,293,718		probably benign	Het
5031439G07Rik	A	C	15: 84,949,597	Y419*	probably null	Het
Abca2	T	A	2: 25,444,139	F1809L	probably damaging	Het
Ache	C	T	5: 137,291,678	T423I	probably benign	Het
Acvrl1	A	G	15: 101,138,345	T395A	probably damaging	Het
Ap3b2	A	G	7: 81,477,993	I145T	probably damaging	Het
Arhgef4	A	C	1: 34,722,452	Q263P	unknown	Het
Asgr2	C	T	11: 70,096,810	L45F	probably damaging	Het
Baiap2l1	T	A	5: 144,285,579	Y122F	possibly damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Car8	A	T	4: 8,185,650		probably null	Het
Carns1	T	C	19: 4,170,082	T385A	probably benign	Het
Ccdc47	T	C	11: 106,202,737	T41A	probably benign	Het
Ccne1	A	T	7: 38,098,573		probably benign	Het
Cdh4	C	T	2: 179,797,504	T148I	probably benign	Het
Ces1h	T	C	8: 93,353,495	T464A	unknown	Het
Cfl1	T	A	19: 5,492,616	S41R	possibly damaging	Het
Crnn	T	C	3: 93,148,135	V76A	probably damaging	Het
Cspg4	A	G	9: 56,887,101	T707A	probably benign	Het
Dgkh	A	T	14: 78,627,742	C53*	probably null	Het
Dhx34	G	T	7: 16,215,330	A391E	possibly damaging	Het
Dlx1	C	A	2: 71,532,353	N201K	probably benign	Het
Dnah6	T	C	6: 73,021,178	E4087G	probably benign	Het
Dock6	T	C	9: 21,845,550	Y134C	probably damaging	Het
Duox2	A	G	2: 122,291,227	V662A	possibly damaging	Het
Dusp12	A	G	1: 170,880,961	F12L	probably damaging	Het
Eppk1	T	C	15: 76,111,037	E548G	probably benign	Het
Foxj2	A	G	6: 122,828,444	I92V	probably damaging	Het
Foxj2	A	G	6: 122,842,839	D562G	probably benign	Het
Gm17728	A	G	17: 9,422,159	R34G	probably damaging	Het
Gpc6	T	C	14: 117,624,548	I292T	probably damaging	Het
Gpr15	T	A	16: 58,718,185	K180N	probably benign	Het
Gtf2ird1	G	T	5: 134,383,922		probably benign	Het
Hist1h2ah	A	G	13: 22,035,549	S2P	probably benign	Het
Hps3	T	A	3: 20,022,820	T393S	probably damaging	Het
Hspa1a	A	T	17: 34,970,291		probably null	Het
Hydin	A	G	8: 110,531,072	E2378G	possibly damaging	Het
Ighv1-18	A	G	12: 114,682,678	L102P	probably damaging	Het
Itga5	T	A	15: 103,350,226	N814I	probably benign	Het
Kcnb2	T	C	1: 15,710,256	S451P	probably damaging	Het
Klhl32	T	G	4: 24,709,030	I112L	probably damaging	Het
Knstrn	T	G	2: 118,834,094	I47R	possibly damaging	Het
Med23	T	A	10: 24,895,824	S581T	possibly damaging	Het
Mgat5	C	T	1: 127,390,851	T361I	probably damaging	Het
Nipal3	A	G	4: 135,479,547	V112A	probably damaging	Het
Olfr1287	T	C	2: 111,449,352	F71L	probably benign	Het
Olfr1359	A	G	13: 21,703,073	E24G	probably benign	Het
Olfr713	T	A	7: 107,036,749	V198D	possibly damaging	Het
Olfr996	A	G	2: 85,579,481	M81V	probably benign	Het
Paxip1	G	A	5: 27,765,768	Q528*	probably null	Het
Proser2	T	C	2: 6,113,990	D14G	probably damaging	Het
Rp1	T	G	1: 4,345,655	I1745L	probably benign	Het
Rxfp2	G	T	5: 150,048,848		probably null	Het
Slc45a1	T	C	4: 150,638,594	S278G	possibly damaging	Het
Smurf1	A	G	5: 144,886,369	I455T	possibly damaging	Het
Speg	T	C	1: 75,430,913	L3188P	probably damaging	Het
Tcaf3	G	T	6: 42,597,125	A51D	probably damaging	Het
Tecrl	T	C	5: 83,354,921	N12S	possibly damaging	Het
Tmem17	T	A	11: 22,518,508	I149N	possibly damaging	Het
Tmem171	A	G	13: 98,692,468	V58A	possibly damaging	Het
Ttn	A	G	2: 76,861,177		probably benign	Het
Ubqln5	A	G	7: 104,128,601	S339P	probably benign	Het
Vmn1r16	T	A	6: 57,323,488	I50L	probably benign	Het
Vmn2r103	A	T	17: 19,793,477	Y177F	probably benign	Het
Zfp28	C	A	7: 6,394,693	T709K	probably damaging	Het
Zfp958	A	G	8: 4,626,170	N46S	probably benign	Het
Zyx	T	A	6: 42,350,357	V30E	unknown	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
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
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'- TGTGGTTTAGAGAGCCATCAGC -3'
(R):5'- AGGGAGTCAACCTGAGTCTTG -3'

Sequencing Primer
(F):5'- GCTTCTCAGCTCACCCTTTC -3'
(R):5'- ACATCTGAGTCACTTGCAGG -3'

Posted On

2018-11-28