Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Cdc16'

46069

Institutional Source

Beutler Lab

Gene Symbol

Cdc16

Ensembl Gene

ENSMUSG00000038416

Gene Name

CDC16 cell division cycle 16

Synonyms

2810431D22Rik, 2700071J12Rik

MMRRC Submission

038755-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R0564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13757676-13781938 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13781618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 617 (D617V)

Ref Sequence

ENSEMBL: ENSMUSP00000047950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043767] [ENSMUST00000043962]

AlphaFold

Q8R349

Predicted Effect

probably benign
Transcript: ENSMUST00000043767

SMART Domains

Protein: ENSMUSP00000037354
Gene: ENSMUSG00000038398

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
Pfam:Smg4_UPF3	63	224	1.4e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000043962
AA Change: D617V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047950
Gene: ENSMUSG00000038416
AA Change: D617V

Domain	Start	End	E-Value	Type
Pfam:TPR_9	11	63	1.8e-3	PFAM
Pfam:ANAPC3	15	95	3.5e-23	PFAM
TPR	130	163	1.17e1	SMART
Blast:TPR	299	333	2e-8	BLAST
Blast:TPR	334	367	1e-14	BLAST
TPR	368	401	1.48e1	SMART
Blast:TPR	402	435	7e-15	BLAST
TPR	445	478	6.68e-6	SMART
TPR	479	512	1.74e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211724

Meta Mutation Damage Score

0.1463

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions as a protein ubiquitin ligase and is a component of the multiprotein APC complex. The APC complex is a cyclin degradation system that governs exit from mitosis by targeting cell cycle proteins for degredation by the 26S proteasome. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein, and other APC complex proteins, contain a tetratricopeptide repeat (TPR) domain; a protein domain that is often involved in protein-protein interactions and the assembly of multiprotein complexes. Multiple alternatively spliced transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,344,847	V127A	probably damaging	Het
Alox12	T	A	11: 70,252,836	D202V	probably damaging	Het
Ankib1	A	G	5: 3,729,655	Y405H	probably damaging	Het
Apbb2	A	T	5: 66,452,250	M18K	probably damaging	Het
Atad2	C	A	15: 58,125,833		probably benign	Het
BC117090	A	T	16: 36,322,984	Y34*	probably null	Het
Birc6	T	A	17: 74,625,243		probably benign	Het
Ccdc126	T	C	6: 49,334,142	M28T	possibly damaging	Het
Cep135	G	A	5: 76,615,710	E516K	probably damaging	Het
Cep135	G	T	5: 76,638,949	M1081I	probably benign	Het
Col6a3	A	C	1: 90,807,734	V731G	probably damaging	Het
Cwc27	C	A	13: 104,661,357	E365*	probably null	Het
D230025D16Rik	T	A	8: 105,239,971		probably benign	Het
Dip2b	C	A	15: 100,162,719	Y258*	probably null	Het
Dnah17	A	G	11: 118,082,981	V1900A	probably damaging	Het
Dpysl2	A	T	14: 66,805,446		probably benign	Het
Dync2h1	A	T	9: 7,139,432	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,158,586	Y427N	possibly damaging	Het
Fbln1	T	A	15: 85,227,107	V154D	probably benign	Het
Frem2	A	G	3: 53,656,109	F326L	probably damaging	Het
Gm4922	T	A	10: 18,784,065	N303I	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,390,451	V214M	probably damaging	Het
Luzp2	A	G	7: 54,835,962	K2E	probably damaging	Het
Mcc	A	G	18: 44,468,507	L410P	probably damaging	Het
Mfn2	A	G	4: 147,883,255	F452S	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Micu2	A	G	14: 57,919,374	F335L	possibly damaging	Het
Mpp3	T	G	11: 102,005,347	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,598,888	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,714,658	I263V	probably benign	Het
Olfr551	T	C	7: 102,588,531	I71V	probably benign	Het
Olfr809	T	G	10: 129,776,136	V74G	probably damaging	Het
Pdk1	G	A	2: 71,880,039	W113*	probably null	Het
Phxr4	A	T	9: 13,431,697		probably benign	Het
Rad51ap2	T	A	12: 11,457,896	H606Q	probably benign	Het
Ralgapa1	A	T	12: 55,782,885	I187K	possibly damaging	Het
Rps27	A	G	3: 90,212,923		probably benign	Het
Sema3e	T	A	5: 14,236,085		probably null	Het
Sh2d3c	G	A	2: 32,753,052	C749Y	probably damaging	Het
Siah2	T	C	3: 58,676,235	D210G	probably benign	Het
Smap2	G	A	4: 120,976,977	P155S	probably benign	Het
Snrk	C	T	9: 122,166,544	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,245,525		probably benign	Het
Tmem132d	C	T	5: 127,784,778	E760K	probably damaging	Het
Tmem184c	A	T	8: 77,606,160		probably null	Het
Tmem235	A	T	11: 117,860,848	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,492,639		probably null	Het
Top1	G	A	2: 160,714,265	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,822	N527D	probably damaging	Het
Upf3a	A	G	8: 13,795,656	K252E	probably benign	Het

Other mutations in Cdc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Cdc16	APN	8	13767575	nonsense	probably null
IGL01109:Cdc16	APN	8	13764606	missense	probably benign	0.00
IGL01475:Cdc16	APN	8	13781542	missense	probably benign
IGL02729:Cdc16	APN	8	13779250	missense	possibly damaging	0.93
IGL03389:Cdc16	APN	8	13759179	missense	probably damaging	1.00
R0026:Cdc16	UTSW	8	13759130	splice site	probably null
R0373:Cdc16	UTSW	8	13779264	missense	probably benign	0.04
R0520:Cdc16	UTSW	8	13760569	critical splice donor site	probably null
R1470:Cdc16	UTSW	8	13758992	splice site	probably benign
R1487:Cdc16	UTSW	8	13771445	missense	probably benign	0.17
R1753:Cdc16	UTSW	8	13764688	nonsense	probably null
R1883:Cdc16	UTSW	8	13775738	missense	probably damaging	1.00
R3087:Cdc16	UTSW	8	13759004	missense	probably damaging	0.98
R3418:Cdc16	UTSW	8	13769489	nonsense	probably null
R3756:Cdc16	UTSW	8	13777609	critical splice donor site	probably null
R4152:Cdc16	UTSW	8	13762857	missense	probably damaging	1.00
R4842:Cdc16	UTSW	8	13781644	utr 3 prime	probably benign
R5122:Cdc16	UTSW	8	13764570	missense	probably damaging	1.00
R5492:Cdc16	UTSW	8	13763915	splice site	probably null
R5982:Cdc16	UTSW	8	13781399	missense	possibly damaging	0.73
R6145:Cdc16	UTSW	8	13767573	missense	possibly damaging	0.96
R6154:Cdc16	UTSW	8	13768609	missense	possibly damaging	0.87
R6611:Cdc16	UTSW	8	13781512	missense	probably benign
R6992:Cdc16	UTSW	8	13759188	missense	probably benign	0.22
R7011:Cdc16	UTSW	8	13769451	missense	probably damaging	1.00
R7484:Cdc16	UTSW	8	13777605	missense	probably benign	0.01
R7593:Cdc16	UTSW	8	13777605	missense	probably benign	0.01
R7946:Cdc16	UTSW	8	13762882	missense	probably benign	0.22
R9019:Cdc16	UTSW	8	13781501	missense	probably benign
R9655:Cdc16	UTSW	8	13759153	missense	possibly damaging	0.93
R9668:Cdc16	UTSW	8	13767552	missense	possibly damaging	0.94
R9796:Cdc16	UTSW	8	13757693	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTTCCCCTGTGACCAGTGTTTATG -3'
(R):5'- AAAATCGGAAAACATCTGTTGCCAAGG -3'

Sequencing Primer
(F):5'- AAAGTGCTATGACTTCGATGTGC -3'
(R):5'- TGCTGTCCCACTGTTACTG -3'

Posted On

2013-06-11