Mutagenetix > Incidental Mutation

Incidental Mutation 'R1472:Cep85'

164981

Institutional Source

Beutler Lab

Gene Symbol

Cep85

Ensembl Gene

ENSMUSG00000037443

Gene Name

centrosomal protein 85

Synonyms

2410030J07Rik, Ccdc21

MMRRC Submission

039525-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R1472 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134129858-134187112 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134167400 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 32 (W32R)

Ref Sequence

ENSEMBL: ENSMUSP00000125599 (fasta)

Gene Model

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

AlphaFold

Q8BMK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040271
AA Change: W32R

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

SMART Domains

Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: W32R

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: W32R

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

SMART Domains

Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: W32R

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 damaging
Transcript: ENSMUST00000137388
AA Change: W32R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184419

Meta Mutation Damage Score

0.8364

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,067,552 (GRCm38)	T834M	possibly damaging	Het
Ak1	T	C	2: 32,630,301 (GRCm38)	L32P	probably damaging	Het
Ankrd24	A	G	10: 81,634,920 (GRCm38)	D61G	probably damaging	Het
Atp13a2	T	C	4: 140,993,802 (GRCm38)	S99P	probably damaging	Het
Atp8a2	T	C	14: 59,860,270 (GRCm38)	K770E	probably benign	Het
Bmp10	A	G	6: 87,433,797 (GRCm38)	I191V	probably benign	Het
C2cd6	A	T	1: 59,067,785 (GRCm38)	S294T	possibly damaging	Het
C4b	T	A	17: 34,743,769 (GRCm38)	K20*	probably null	Het
Caps2	C	T	10: 112,179,472 (GRCm38)	T139I	probably benign	Het
Cdc25a	T	C	9: 109,876,089 (GRCm38)	S34P	probably benign	Het
Cenpv	T	C	11: 62,536,295 (GRCm38)	I146V	probably benign	Het
Cep57	A	T	9: 13,821,554 (GRCm38)	F32I	probably benign	Het
Cntrl	T	C	2: 35,169,317 (GRCm38)		probably null	Het
Cpd	A	G	11: 76,784,398 (GRCm38)	V1299A	probably damaging	Het
Cpne6	T	C	14: 55,514,635 (GRCm38)	V283A	probably benign	Het
Crot	A	G	5: 8,966,941 (GRCm38)	C584R	probably damaging	Het
Ctsc	A	C	7: 88,281,462 (GRCm38)	H83P	possibly damaging	Het
Dido1	T	C	2: 180,660,720 (GRCm38)	N1797S	probably benign	Het
Dlgap4	C	T	2: 156,760,901 (GRCm38)	Q148*	probably null	Het
Dnah3	T	C	7: 120,070,958 (GRCm38)	D688G	probably benign	Het
Dnmt1	T	C	9: 20,932,176 (GRCm38)	E138G	probably benign	Het
Edc4	T	A	8: 105,892,828 (GRCm38)	M1396K	probably damaging	Het
Haao	T	A	17: 83,838,838 (GRCm38)	Q69L	probably benign	Het
Hsd3b6	A	T	3: 98,807,939 (GRCm38)		probably null	Het
Itpr3	T	A	17: 27,114,225 (GRCm38)	I1937N	probably benign	Het
Kcnk15	C	A	2: 163,858,207 (GRCm38)	T103K	probably damaging	Het
Kifc3	A	G	8: 95,137,913 (GRCm38)		probably null	Het
Lama3	T	A	18: 12,482,045 (GRCm38)	F1342Y	probably benign	Het
Lilra6	A	T	7: 3,912,719 (GRCm38)	M98K	probably damaging	Het
Map3k21	T	C	8: 125,941,678 (GRCm38)	S668P	probably benign	Het
Mcpt8	T	C	14: 56,082,334 (GRCm38)	T220A	probably benign	Het
Mettl13	C	T	1: 162,537,167 (GRCm38)	V548I	possibly damaging	Het
Mfsd4b4	A	G	10: 39,891,864 (GRCm38)	M411T	probably benign	Het
Mrfap1	A	G	5: 36,796,473 (GRCm38)	S41P	possibly damaging	Het
Mroh2b	A	G	15: 4,948,655 (GRCm38)	I1302V	probably benign	Het
Mrpl45	C	T	11: 97,323,855 (GRCm38)	R123*	probably null	Het
Mstn	T	A	1: 53,061,998 (GRCm38)	I78K	probably damaging	Het
Mtdh	T	C	15: 34,114,045 (GRCm38)	S168P	possibly damaging	Het
Muc15	G	T	2: 110,731,560 (GRCm38)	V114F	probably damaging	Het
Muc6	T	C	7: 141,651,879 (GRCm38)	E112G	probably benign	Het
Myocd	G	T	11: 65,187,504 (GRCm38)	H360Q	probably benign	Het
Naip2	C	T	13: 100,161,860 (GRCm38)	G556D	probably benign	Het
Nav3	T	C	10: 109,727,941 (GRCm38)	E1627G	probably damaging	Het
Nlrp14	T	C	7: 107,182,703 (GRCm38)	L369P	probably benign	Het
Nlrp6	A	G	7: 140,923,495 (GRCm38)	T505A	probably damaging	Het
Npbwr1	T	C	1: 5,916,681 (GRCm38)	S205G	probably damaging	Het
Nsmaf	G	A	4: 6,423,448 (GRCm38)	R307*	probably null	Het
Olfr1505	T	C	19: 13,919,844 (GRCm38)	S275P	probably damaging	Het
Olfr187	A	T	16: 59,036,557 (GRCm38)	L60Q	probably damaging	Het
Parp9	T	G	16: 35,953,680 (GRCm38)	S341A	possibly damaging	Het
Pdss2	A	G	10: 43,413,537 (GRCm38)	N346S	probably benign	Het
Pikfyve	T	A	1: 65,224,201 (GRCm38)	F503Y	probably damaging	Het
Polr1e	G	T	4: 45,028,026 (GRCm38)	A290S	probably damaging	Het
Ppp1r21	A	T	17: 88,558,605 (GRCm38)	H305L	probably damaging	Het
Prss47	A	G	13: 65,049,289 (GRCm38)	L117P	probably damaging	Het
Psmb2	A	G	4: 126,687,032 (GRCm38)	Y73C	probably damaging	Het
Rcn2	C	T	9: 56,056,253 (GRCm38)	P222L	probably benign	Het
Rnf144b	T	C	13: 47,242,885 (GRCm38)	Y233H	probably damaging	Het
Rnf17	T	C	14: 56,427,979 (GRCm38)	L196P	probably damaging	Het
Sik2	A	G	9: 51,008,811 (GRCm38)	I22T	probably damaging	Het
Sis	A	G	3: 72,889,027 (GRCm38)	V1807A	probably benign	Het
Slc1a2	T	A	2: 102,737,909 (GRCm38)	I88N	probably damaging	Het
Slc22a22	A	G	15: 57,247,520 (GRCm38)	F437S	probably benign	Het
Slc39a13	A	T	2: 91,068,705 (GRCm38)	C20*	probably null	Het
Sos2	C	T	12: 69,585,316 (GRCm38)		probably null	Het
Sst	A	G	16: 23,890,698 (GRCm38)	V16A	probably benign	Het
Stab1	C	T	14: 31,141,586 (GRCm38)	G2073D	probably benign	Het
Stxbp1	A	T	2: 32,794,636 (GRCm38)	S594T	probably benign	Het
Sugct	A	T	13: 17,452,546 (GRCm38)	C241S	probably benign	Het
Svil	T	A	18: 5,048,950 (GRCm38)	C76S	probably benign	Het
Tcaf1	A	G	6: 42,686,448 (GRCm38)	V166A	possibly damaging	Het
Tmem131	A	T	1: 36,816,241 (GRCm38)	N801K	possibly damaging	Het
Tox3	T	C	8: 90,254,345 (GRCm38)	N277S	probably damaging	Het
Tril	G	T	6: 53,818,027 (GRCm38)	R737S	probably damaging	Het
Trpm2	C	A	10: 77,966,007 (GRCm38)	V75L	probably damaging	Het
Tshz1	A	C	18: 84,013,805 (GRCm38)	L826R	possibly damaging	Het
Ttn	C	T	2: 76,766,852 (GRCm38)	V19906I	probably damaging	Het
Wnt5a	C	T	14: 28,518,504 (GRCm38)	R184*	probably null	Het
Wnt5b	G	A	6: 119,433,481 (GRCm38)	R333C	probably damaging	Het
Zbtb6	T	C	2: 37,429,344 (GRCm38)	T191A	probably benign	Het
Zc3h4	A	G	7: 16,434,770 (GRCm38)	N935D	unknown	Het
Zc3h7a	C	T	16: 11,161,026 (GRCm38)	R95H	probably damaging	Het
Zfp110	T	C	7: 12,848,541 (GRCm38)	V372A	possibly damaging	Het
Zmym2	C	T	14: 56,911,183 (GRCm38)	S318L	probably benign	Het

Other mutations in Cep85

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Cep85	APN	4	134,148,761 (GRCm38)	missense	possibly damaging	0.63
IGL01397:Cep85	APN	4	134,156,206 (GRCm38)	missense	probably damaging	1.00
IGL01472:Cep85	APN	4	134,134,166 (GRCm38)	missense	possibly damaging	0.55
IGL01522:Cep85	APN	4	134,152,256 (GRCm38)	missense	probably damaging	1.00
IGL01522:Cep85	APN	4	134,152,255 (GRCm38)	missense	probably damaging	1.00
IGL02004:Cep85	APN	4	134,167,387 (GRCm38)	missense	probably damaging	1.00
IGL02043:Cep85	APN	4	134,155,727 (GRCm38)	missense	probably benign	0.02
IGL02187:Cep85	APN	4	134,131,305 (GRCm38)	missense	possibly damaging	0.86
IGL02317:Cep85	APN	4	134,155,811 (GRCm38)	missense	probably damaging	1.00
IGL02543:Cep85	APN	4	134,156,323 (GRCm38)	missense	possibly damaging	0.52
1mM(1):Cep85	UTSW	4	134,156,264 (GRCm38)	missense	possibly damaging	0.88
PIT4468001:Cep85	UTSW	4	134,148,697 (GRCm38)	missense	probably damaging	1.00
R0060:Cep85	UTSW	4	134,167,300 (GRCm38)	missense	probably damaging	1.00
R0068:Cep85	UTSW	4	134,154,295 (GRCm38)	missense	probably benign	0.00
R0346:Cep85	UTSW	4	134,132,422 (GRCm38)	missense	probably damaging	1.00
R0462:Cep85	UTSW	4	134,131,421 (GRCm38)	missense	possibly damaging	0.88
R1295:Cep85	UTSW	4	134,167,400 (GRCm38)	missense	probably damaging	1.00
R1296:Cep85	UTSW	4	134,167,400 (GRCm38)	missense	probably damaging	1.00
R1577:Cep85	UTSW	4	134,152,288 (GRCm38)	missense	probably damaging	1.00
R1681:Cep85	UTSW	4	134,148,728 (GRCm38)	nonsense	probably null
R1687:Cep85	UTSW	4	134,148,013 (GRCm38)	missense	probably benign	0.00
R2031:Cep85	UTSW	4	134,132,450 (GRCm38)	missense	probably benign	0.00
R2216:Cep85	UTSW	4	134,131,430 (GRCm38)	missense	possibly damaging	0.62
R2220:Cep85	UTSW	4	134,153,867 (GRCm38)	missense	probably damaging	1.00
R4321:Cep85	UTSW	4	134,132,285 (GRCm38)	missense	probably damaging	1.00
R4888:Cep85	UTSW	4	134,164,751 (GRCm38)	intron	probably benign
R5044:Cep85	UTSW	4	134,156,179 (GRCm38)	missense	probably damaging	0.97
R5075:Cep85	UTSW	4	134,132,367 (GRCm38)	missense	probably damaging	1.00
R5627:Cep85	UTSW	4	134,134,097 (GRCm38)	missense	probably damaging	1.00
R6841:Cep85	UTSW	4	134,155,856 (GRCm38)	missense	probably benign
R6842:Cep85	UTSW	4	134,155,856 (GRCm38)	missense	probably benign
R6843:Cep85	UTSW	4	134,155,856 (GRCm38)	missense	probably benign
R6981:Cep85	UTSW	4	134,152,261 (GRCm38)	missense	probably damaging	1.00
R7252:Cep85	UTSW	4	134,148,031 (GRCm38)	missense	probably benign	0.12
R7869:Cep85	UTSW	4	134,132,298 (GRCm38)	missense	probably damaging	0.99
R8057:Cep85	UTSW	4	134,153,614 (GRCm38)	unclassified	probably benign
R8194:Cep85	UTSW	4	134,134,089 (GRCm38)	missense	probably null	0.00
R8733:Cep85	UTSW	4	134,148,161 (GRCm38)	missense	possibly damaging	0.87
R8928:Cep85	UTSW	4	134,132,404 (GRCm38)	missense	probably benign	0.00
R9430:Cep85	UTSW	4	134,167,354 (GRCm38)	missense	probably damaging	1.00
R9550:Cep85	UTSW	4	134,131,287 (GRCm38)	missense	probably damaging	1.00
V8831:Cep85	UTSW	4	134,156,069 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAGATTCCATGACTGAATAGCCTGTCC -3'
(R):5'- GAAAGATGTGCCTGCTGCTGTTTTAC -3'

Sequencing Primer
(F):5'- GACTGAATAGCCTGTCCTTACAATC -3'
(R):5'- CAGTCAACCTGCTTGGAATG -3'

Posted On

2014-03-28