Mutagenetix > Incidental Mutation

Incidental Mutation 'R1487:Cdc16'

163531

Institutional Source

Beutler Lab

Gene Symbol

Cdc16

Ensembl Gene

ENSMUSG00000038416

Gene Name

CDC16 cell division cycle 16

Synonyms

2700071J12Rik, 2810431D22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R1487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13807676-13831938 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13821445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 415 (N415K)

Ref Sequence

ENSEMBL: ENSMUSP00000047950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043962] [ENSMUST00000130173]

AlphaFold

Q8R349

Predicted Effect

probably benign
Transcript: ENSMUST00000043962
AA Change: N415K

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047950
Gene: ENSMUSG00000038416
AA Change: N415K

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

probably benign
Transcript: ENSMUST00000130173

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	C	6: 146,854,877 (GRCm39)	V55G	probably benign	Het
Abhd13	A	G	8: 10,037,402 (GRCm39)		probably benign	Het
Arid5b	T	A	10: 67,933,044 (GRCm39)	K953*	probably null	Het
Armh3	A	C	19: 45,928,882 (GRCm39)		probably null	Het
B4galt6	A	G	18: 20,839,571 (GRCm39)	V121A	possibly damaging	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Calu	A	G	6: 29,366,955 (GRCm39)	I208V	probably benign	Het
Cd14	T	C	18: 36,858,537 (GRCm39)	N306S	probably benign	Het
Cfap57	C	A	4: 118,471,978 (GRCm39)	V134F	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Chtf18	T	C	17: 25,939,583 (GRCm39)	K67R	probably benign	Het
Clock	T	C	5: 76,414,201 (GRCm39)		probably null	Het
Cplane1	C	T	15: 8,215,715 (GRCm39)	R424W	probably damaging	Het
Eif4g1	G	A	16: 20,497,623 (GRCm39)		probably benign	Het
Eps8l2	A	T	7: 140,941,531 (GRCm39)	M601L	probably benign	Het
Fat4	A	G	3: 39,050,066 (GRCm39)	E3976G	possibly damaging	Het
Flrt3	T	A	2: 140,502,854 (GRCm39)	H258L	probably damaging	Het
Flt4	C	A	11: 49,523,971 (GRCm39)	T517K	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Gm17079	A	T	14: 51,930,542 (GRCm39)		probably null	Het
Gucy2c	T	A	6: 136,725,824 (GRCm39)	I375F	possibly damaging	Het
Hps4	C	T	5: 112,525,865 (GRCm39)	Q629*	probably null	Het
Hunk	A	G	16: 90,183,525 (GRCm39)	Y61C	probably damaging	Het
Itga6	T	C	2: 71,673,584 (GRCm39)	S873P	possibly damaging	Het
Kcnc1	A	G	7: 46,047,298 (GRCm39)	H66R	possibly damaging	Het
Kcnc1	T	C	7: 46,084,772 (GRCm39)		probably null	Het
Khdc3	A	G	9: 73,009,846 (GRCm39)	T19A	probably benign	Het
Kmt2a	T	C	9: 44,745,287 (GRCm39)		probably benign	Het
Lipe	C	T	7: 25,084,240 (GRCm39)	A615T	possibly damaging	Het
Lrguk	A	T	6: 34,039,295 (GRCm39)	M269L	probably benign	Het
Lrrc18	A	G	14: 32,730,640 (GRCm39)	N60D	probably damaging	Het
Magi1	T	C	6: 93,685,060 (GRCm39)	T773A	probably benign	Het
Map3k14	T	A	11: 103,116,163 (GRCm39)	D755V	possibly damaging	Het
Mecom	T	C	3: 30,034,213 (GRCm39)	T488A	probably damaging	Het
Mmp10	T	G	9: 7,509,978 (GRCm39)	W473G	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,434 (GRCm39)	V275I	probably benign	Het
Myo7a	A	C	7: 97,703,017 (GRCm39)		probably null	Het
Nadsyn1	C	T	7: 143,360,662 (GRCm39)	V369I	probably benign	Het
Nptxr	C	A	15: 79,674,104 (GRCm39)	G424V	probably damaging	Het
Nrg2	C	T	18: 36,185,965 (GRCm39)	G258E	possibly damaging	Het
Nup210	G	A	6: 91,019,558 (GRCm39)	P221S	probably damaging	Het
Odad2	A	T	18: 7,273,245 (GRCm39)	Y282N	probably damaging	Het
Or52a33	T	A	7: 103,288,801 (GRCm39)	H182L	probably damaging	Het
Or6c208	T	C	10: 129,224,209 (GRCm39)	F236L	probably benign	Het
Oxct1	A	G	15: 4,177,057 (GRCm39)	D477G	possibly damaging	Het
Pcdh8	G	T	14: 80,006,987 (GRCm39)	D525E	probably damaging	Het
Phldb2	A	G	16: 45,609,387 (GRCm39)	S740P	probably damaging	Het
Prss54	A	G	8: 96,286,276 (GRCm39)	S266P	probably benign	Het
Ptprh	T	A	7: 4,555,737 (GRCm39)	I741F	probably damaging	Het
Rab11fip1	G	T	8: 27,644,240 (GRCm39)	S515Y	probably damaging	Het
Recql4	T	A	15: 76,593,183 (GRCm39)	N309I	probably benign	Het
Sec24a	T	C	11: 51,622,713 (GRCm39)	T388A	possibly damaging	Het
Setd6	T	A	8: 96,444,556 (GRCm39)	L83H	probably damaging	Het
Slc6a12	G	A	6: 121,340,716 (GRCm39)	W534*	probably null	Het
St14	C	T	9: 31,008,476 (GRCm39)	C488Y	probably damaging	Het
Supt16	A	G	14: 52,414,065 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,460 (GRCm39)	Y1968C	probably damaging	Het
Tcaim	T	A	9: 122,647,897 (GRCm39)	Y137*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm3	A	T	3: 89,997,389 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,746,352 (GRCm39)	N475K	probably damaging	Het
Twnk	G	T	19: 44,996,815 (GRCm39)		probably null	Het
Zfp287	T	C	11: 62,616,115 (GRCm39)	K192R	probably damaging	Het
Zfp799	G	T	17: 33,039,651 (GRCm39)	T204N	possibly damaging	Het

Other mutations in Cdc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Cdc16	APN	8	13,817,575 (GRCm39)	nonsense	probably null
IGL01109:Cdc16	APN	8	13,814,606 (GRCm39)	missense	probably benign	0.00
IGL01475:Cdc16	APN	8	13,831,542 (GRCm39)	missense	probably benign
IGL02729:Cdc16	APN	8	13,829,250 (GRCm39)	missense	possibly damaging	0.93
IGL03389:Cdc16	APN	8	13,809,179 (GRCm39)	missense	probably damaging	1.00
R0026:Cdc16	UTSW	8	13,809,130 (GRCm39)	splice site	probably null
R0373:Cdc16	UTSW	8	13,829,264 (GRCm39)	missense	probably benign	0.04
R0520:Cdc16	UTSW	8	13,810,569 (GRCm39)	critical splice donor site	probably null
R0564:Cdc16	UTSW	8	13,831,618 (GRCm39)	missense	probably damaging	1.00
R1470:Cdc16	UTSW	8	13,808,992 (GRCm39)	splice site	probably benign
R1753:Cdc16	UTSW	8	13,814,688 (GRCm39)	nonsense	probably null
R1883:Cdc16	UTSW	8	13,825,738 (GRCm39)	missense	probably damaging	1.00
R3087:Cdc16	UTSW	8	13,809,004 (GRCm39)	missense	probably damaging	0.98
R3418:Cdc16	UTSW	8	13,819,489 (GRCm39)	nonsense	probably null
R3756:Cdc16	UTSW	8	13,827,609 (GRCm39)	critical splice donor site	probably null
R4152:Cdc16	UTSW	8	13,812,857 (GRCm39)	missense	probably damaging	1.00
R4842:Cdc16	UTSW	8	13,831,644 (GRCm39)	utr 3 prime	probably benign
R5122:Cdc16	UTSW	8	13,814,570 (GRCm39)	missense	probably damaging	1.00
R5492:Cdc16	UTSW	8	13,813,915 (GRCm39)	splice site	probably null
R5982:Cdc16	UTSW	8	13,831,399 (GRCm39)	missense	possibly damaging	0.73
R6145:Cdc16	UTSW	8	13,817,573 (GRCm39)	missense	possibly damaging	0.96
R6154:Cdc16	UTSW	8	13,818,609 (GRCm39)	missense	possibly damaging	0.87
R6611:Cdc16	UTSW	8	13,831,512 (GRCm39)	missense	probably benign
R6992:Cdc16	UTSW	8	13,809,188 (GRCm39)	missense	probably benign	0.22
R7011:Cdc16	UTSW	8	13,819,451 (GRCm39)	missense	probably damaging	1.00
R7484:Cdc16	UTSW	8	13,827,605 (GRCm39)	missense	probably benign	0.01
R7593:Cdc16	UTSW	8	13,827,605 (GRCm39)	missense	probably benign	0.01
R7946:Cdc16	UTSW	8	13,812,882 (GRCm39)	missense	probably benign	0.22
R9019:Cdc16	UTSW	8	13,831,501 (GRCm39)	missense	probably benign
R9655:Cdc16	UTSW	8	13,809,153 (GRCm39)	missense	possibly damaging	0.93
R9668:Cdc16	UTSW	8	13,817,552 (GRCm39)	missense	possibly damaging	0.94
R9796:Cdc16	UTSW	8	13,807,693 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTTTCAGGTGTCACTTGCCAATGC -3'
(R):5'- AAGAAGATGTTGTCCAGACCACATGG -3'

Sequencing Primer
(F):5'- CCCAGAAGACCCATTTGTCA -3'
(R):5'- GTTTGTGCAGCCCATATTAAAGGAG -3'

Posted On

2014-03-28