Mutagenetix > Incidental Mutation

Incidental Mutation 'R7869:Cep85'

607959

Institutional Source

Beutler Lab

Gene Symbol

Cep85

Ensembl Gene

ENSMUSG00000037443

Gene Name

centrosomal protein 85

Synonyms

Ccdc21, 2410030J07Rik

MMRRC Submission

045921-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R7869 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133857169-133914420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133859609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 687 (C687R)

Ref Sequence

ENSEMBL: ENSMUSP00000039889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030651] [ENSMUST00000040271] [ENSMUST00000070246] [ENSMUST00000105879] [ENSMUST00000121566]

AlphaFold

Q8BMK0

Predicted Effect

probably benign
Transcript: ENSMUST00000030651

SMART Domains

Protein: ENSMUSP00000030651
Gene: ENSMUSG00000028843

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	2	93	6.3e-40	PFAM
Pfam:Glutaredoxin	22	70	9.2e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000040271
AA Change: C687R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: C687R

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 benign
Transcript: ENSMUST00000070246

SMART Domains

Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126

Domain	Start	End	E-Value	Type
Pfam:SEP	114	185	1.5e-20	PFAM
UBX	268	350	2.3e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105879

Predicted Effect

probably damaging
Transcript: ENSMUST00000121566
AA Change: C685R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: C685R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,332,001 (GRCm39)	R738C	possibly damaging	Het
Acot12	G	A	13: 91,919,844 (GRCm39)	V260M	probably benign	Het
Alkbh8	A	T	9: 3,359,503 (GRCm39)	H264L	probably damaging	Het
Arfgef2	C	T	2: 166,715,623 (GRCm39)	T1356I	probably damaging	Het
Arhgap27	A	T	11: 103,251,130 (GRCm39)	N199K	probably damaging	Het
Asic2	T	C	11: 81,858,824 (GRCm39)	R63G	probably damaging	Het
Aspa	T	A	11: 73,204,378 (GRCm39)	M197L	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Brdt	A	T	5: 107,518,045 (GRCm39)	I723L	probably benign	Het
C2cd3	T	A	7: 100,118,698 (GRCm39)	F2312Y	probably damaging	Het
Cd19	T	C	7: 126,009,698 (GRCm39)	N456S	probably damaging	Het
Ceacam1	G	T	7: 25,175,954 (GRCm39)	A80E	probably damaging	Het
Cep135	T	C	5: 76,788,803 (GRCm39)	V1132A	probably benign	Het
Cln5	A	G	14: 103,313,501 (GRCm39)	Y251C	probably damaging	Het
Crygc	A	G	1: 65,111,014 (GRCm39)	M91T	possibly damaging	Het
Ddt	T	C	10: 75,609,060 (GRCm39)	K33R	probably damaging	Het
Dhfr	G	A	13: 92,494,471 (GRCm39)	W58*	probably null	Het
Dhx40	T	C	11: 86,688,532 (GRCm39)	E297G	probably benign	Het
Dner	T	C	1: 84,361,602 (GRCm39)	Y669C	probably benign	Het
Dpys	G	T	15: 39,656,782 (GRCm39)	F428L	probably damaging	Het
Dspp	A	C	5: 104,323,531 (GRCm39)	T225P	probably damaging	Het
Elac2	A	G	11: 64,890,213 (GRCm39)	K656E	probably damaging	Het
Ern1	T	A	11: 106,349,845 (GRCm39)	R24*	probably null	Het
F2rl2	T	C	13: 95,837,519 (GRCm39)	I188T	probably damaging	Het
Fam83b	C	T	9: 76,399,426 (GRCm39)	C559Y	possibly damaging	Het
Fat1	T	G	8: 45,504,259 (GRCm39)	F4584C	probably benign	Het
Gabra6	G	A	11: 42,207,322 (GRCm39)	T254I	possibly damaging	Het
Garem1	T	C	18: 21,432,757 (GRCm39)	D24G	probably damaging	Het
Gas2l2	A	T	11: 83,312,816 (GRCm39)	L832*	probably null	Het
Gpr68	C	T	12: 100,845,497 (GRCm39)	D16N	probably benign	Het
Il17b	T	C	18: 61,825,480 (GRCm39)	I172T	probably damaging	Het
Ildr2	T	G	1: 166,136,861 (GRCm39)	S567A	probably benign	Het
Kalrn	A	G	16: 33,809,217 (GRCm39)	V2557A	probably damaging	Het
Kif1b	A	G	4: 149,268,833 (GRCm39)	S1627P	probably benign	Het
Kif5a	G	A	10: 127,079,343 (GRCm39)	T285M	probably damaging	Het
Lrif1	G	A	3: 106,640,459 (GRCm39)		probably null	Het
Lrrn2	C	T	1: 132,867,116 (GRCm39)	T727I	unknown	Het
Lsg1	T	C	16: 30,383,540 (GRCm39)	E560G	probably benign	Het
Map4k4	C	A	1: 40,013,204 (GRCm39)	Q100K	unknown	Het
Mipep	A	T	14: 61,040,385 (GRCm39)	R302W	probably damaging	Het
Morf4l1	G	T	9: 89,975,844 (GRCm39)	T316K	probably damaging	Het
Mov10	A	T	3: 104,711,994 (GRCm39)	V126E	probably damaging	Het
Muc2	T	A	7: 141,303,471 (GRCm39)	C559S		Het
Myh7	A	G	14: 55,226,530 (GRCm39)	Y410H	probably damaging	Het
Nf1	T	A	11: 79,309,414 (GRCm39)	Y433N	probably damaging	Het
Nmd3	T	C	3: 69,633,750 (GRCm39)	L79P	probably damaging	Het
Nol10	G	T	12: 17,408,239 (GRCm39)	S155I	probably null	Het
Or2n1	T	C	17: 38,486,830 (GRCm39)	L285P	possibly damaging	Het
Or4p8	T	C	2: 88,727,408 (GRCm39)	I178V	probably benign	Het
Or52n2c	T	A	7: 104,574,311 (GRCm39)	Y220F	probably damaging	Het
Or5b12	A	G	19: 12,896,911 (GRCm39)	I254T	probably benign	Het
Pde3b	T	C	7: 114,093,922 (GRCm39)	S389P	probably benign	Het
Polr1c	C	T	17: 46,555,817 (GRCm39)	G188D	probably benign	Het
Prpf31	A	G	7: 3,633,859 (GRCm39)	M65V	probably benign	Het
Pum2	A	G	12: 8,763,595 (GRCm39)	T251A	probably benign	Het
Rabgap1	G	A	2: 37,377,142 (GRCm39)	V325I	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rpl15	G	T	14: 18,269,017 (GRCm38)	Y203*	probably null	Het
Sac3d1	G	A	19: 6,168,456 (GRCm39)	P54L	possibly damaging	Het
Serpina3g	A	G	12: 104,206,510 (GRCm39)	I104V	probably benign	Het
Setd2	C	T	9: 110,379,082 (GRCm39)	Q966*	probably null	Het
Simc1	G	T	13: 54,651,713 (GRCm39)	D9Y	unknown	Het
Slc5a8	T	C	10: 88,757,567 (GRCm39)	L519S	probably benign	Het
Srcap	C	A	7: 127,138,366 (GRCm39)	Q1179K	possibly damaging	Het
Srd5a3	T	C	5: 76,295,583 (GRCm39)	L91P	probably damaging	Het
Stab1	T	C	14: 30,876,429 (GRCm39)	T887A	probably benign	Het
Sult2a6	A	G	7: 13,988,737 (GRCm39)	F8L	not run	Het
Thsd7a	A	T	6: 12,471,123 (GRCm39)	C498*	probably null	Het
Timp4	T	C	6: 115,227,355 (GRCm39)	I75V	probably benign	Het
Tspyl4	T	A	10: 34,174,096 (GRCm39)	M196K	probably damaging	Het
Ubr2	T	C	17: 47,301,934 (GRCm39)	E172G	probably benign	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Unc13c	T	G	9: 73,602,159 (GRCm39)	L1362F	probably damaging	Het
Vmn2r11	A	G	5: 109,199,986 (GRCm39)	V489A	probably damaging	Het
Vps39	T	C	2: 120,169,875 (GRCm39)	T226A	possibly damaging	Het
Zan	C	T	5: 137,471,863 (GRCm39)	E185K	probably damaging	Het

Other mutations in Cep85

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Cep85	APN	4	133,876,072 (GRCm39)	missense	possibly damaging	0.63
IGL01397:Cep85	APN	4	133,883,517 (GRCm39)	missense	probably damaging	1.00
IGL01472:Cep85	APN	4	133,861,477 (GRCm39)	missense	possibly damaging	0.55
IGL01522:Cep85	APN	4	133,879,567 (GRCm39)	missense	probably damaging	1.00
IGL01522:Cep85	APN	4	133,879,566 (GRCm39)	missense	probably damaging	1.00
IGL02004:Cep85	APN	4	133,894,698 (GRCm39)	missense	probably damaging	1.00
IGL02043:Cep85	APN	4	133,883,038 (GRCm39)	missense	probably benign	0.02
IGL02187:Cep85	APN	4	133,858,616 (GRCm39)	missense	possibly damaging	0.86
IGL02317:Cep85	APN	4	133,883,122 (GRCm39)	missense	probably damaging	1.00
IGL02543:Cep85	APN	4	133,883,634 (GRCm39)	missense	possibly damaging	0.52
1mM(1):Cep85	UTSW	4	133,883,575 (GRCm39)	missense	possibly damaging	0.88
PIT4468001:Cep85	UTSW	4	133,876,008 (GRCm39)	missense	probably damaging	1.00
R0060:Cep85	UTSW	4	133,894,611 (GRCm39)	missense	probably damaging	1.00
R0068:Cep85	UTSW	4	133,881,606 (GRCm39)	missense	probably benign	0.00
R0346:Cep85	UTSW	4	133,859,733 (GRCm39)	missense	probably damaging	1.00
R0462:Cep85	UTSW	4	133,858,732 (GRCm39)	missense	possibly damaging	0.88
R1295:Cep85	UTSW	4	133,894,711 (GRCm39)	missense	probably damaging	1.00
R1296:Cep85	UTSW	4	133,894,711 (GRCm39)	missense	probably damaging	1.00
R1472:Cep85	UTSW	4	133,894,711 (GRCm39)	missense	probably damaging	1.00
R1577:Cep85	UTSW	4	133,879,599 (GRCm39)	missense	probably damaging	1.00
R1681:Cep85	UTSW	4	133,876,039 (GRCm39)	nonsense	probably null
R1687:Cep85	UTSW	4	133,875,324 (GRCm39)	missense	probably benign	0.00
R2031:Cep85	UTSW	4	133,859,761 (GRCm39)	missense	probably benign	0.00
R2216:Cep85	UTSW	4	133,858,741 (GRCm39)	missense	possibly damaging	0.62
R2220:Cep85	UTSW	4	133,881,178 (GRCm39)	missense	probably damaging	1.00
R4321:Cep85	UTSW	4	133,859,596 (GRCm39)	missense	probably damaging	1.00
R4888:Cep85	UTSW	4	133,892,062 (GRCm39)	intron	probably benign
R5044:Cep85	UTSW	4	133,883,490 (GRCm39)	missense	probably damaging	0.97
R5075:Cep85	UTSW	4	133,859,678 (GRCm39)	missense	probably damaging	1.00
R5627:Cep85	UTSW	4	133,861,408 (GRCm39)	missense	probably damaging	1.00
R6841:Cep85	UTSW	4	133,883,167 (GRCm39)	missense	probably benign
R6842:Cep85	UTSW	4	133,883,167 (GRCm39)	missense	probably benign
R6843:Cep85	UTSW	4	133,883,167 (GRCm39)	missense	probably benign
R6981:Cep85	UTSW	4	133,879,572 (GRCm39)	missense	probably damaging	1.00
R7252:Cep85	UTSW	4	133,875,342 (GRCm39)	missense	probably benign	0.12
R8057:Cep85	UTSW	4	133,880,925 (GRCm39)	unclassified	probably benign
R8194:Cep85	UTSW	4	133,861,400 (GRCm39)	missense	probably null	0.00
R8733:Cep85	UTSW	4	133,875,472 (GRCm39)	missense	possibly damaging	0.87
R8928:Cep85	UTSW	4	133,859,715 (GRCm39)	missense	probably benign	0.00
R9430:Cep85	UTSW	4	133,894,665 (GRCm39)	missense	probably damaging	1.00
R9550:Cep85	UTSW	4	133,858,598 (GRCm39)	missense	probably damaging	1.00
V8831:Cep85	UTSW	4	133,883,380 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGCACCTGGTTCAGTTACTG -3'
(R):5'- ACTTCCTAGGGCTCTCTTGGAG -3'

Sequencing Primer
(F):5'- GCACCTGGTTCAGTTACTGTAAGAAC -3'
(R):5'- CTAGGGCTCTCTTGGAGTCTTAATC -3'

Posted On

2019-12-20