Mutagenetix > Incidental Mutation

Incidental Mutation 'R6154:Cdc16'

489451

Institutional Source

Beutler Lab

Gene Symbol

Cdc16

Ensembl Gene

ENSMUSG00000038416

Gene Name

CDC16 cell division cycle 16

Synonyms

2700071J12Rik, 2810431D22Rik

MMRRC Submission

044301-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R6154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13807676-13831938 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13818609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 316 (N316D)

Ref Sequence

ENSEMBL: ENSMUSP00000047950 (fasta)

Gene Model

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

AlphaFold

Q8R349

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043962
AA Change: N316D

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047950
Gene: ENSMUSG00000038416
AA Change: N316D

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

Meta Mutation Damage Score

0.1285

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	G	10: 106,959,210 (GRCm39)	I79L	probably benign	Het
Adam6a	C	T	12: 113,509,292 (GRCm39)	T555I	probably benign	Het
Adap1	A	G	5: 139,293,531 (GRCm39)	V60A	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Angpt1	T	C	15: 42,387,051 (GRCm39)	E101G	probably damaging	Het
Asxl2	T	C	12: 3,546,593 (GRCm39)	V459A	possibly damaging	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Camta2	G	A	11: 70,569,211 (GRCm39)	A578V	probably damaging	Het
Chrm3	T	A	13: 9,928,476 (GRCm39)	M187L	possibly damaging	Het
Clcn4	T	C	7: 7,294,481 (GRCm39)	T367A	probably benign	Het
Clcn7	T	C	17: 25,376,928 (GRCm39)	S654P	probably damaging	Het
Col6a3	T	A	1: 90,701,387 (GRCm39)	T2510S	unknown	Het
Crisp4	T	C	1: 18,193,012 (GRCm39)	E192G	possibly damaging	Het
Dmbt1	T	A	7: 130,711,370 (GRCm39)		probably null	Het
Dnah5	T	G	15: 28,204,177 (GRCm39)	L18R	probably benign	Het
Dnah9	T	G	11: 65,746,164 (GRCm39)	D3983A	probably benign	Het
Dock5	C	A	14: 68,097,361 (GRCm39)	V71L	probably benign	Het
Dync1h1	T	C	12: 110,584,427 (GRCm39)	V610A	probably damaging	Het
Dynlrb2	A	G	8: 117,242,428 (GRCm39)	Y86C	probably benign	Het
Ep400	T	C	5: 110,903,799 (GRCm39)	I267V	probably damaging	Het
Gaa	A	G	11: 119,169,178 (GRCm39)	Y575C	probably damaging	Het
Gm8094	T	A	14: 42,934,020 (GRCm39)	D24V	probably benign	Het
Grina	T	C	15: 76,133,087 (GRCm39)	I244T	possibly damaging	Het
Haus6	A	G	4: 86,501,993 (GRCm39)	L626P	possibly damaging	Het
Hexd	A	T	11: 121,112,097 (GRCm39)	H439L	probably benign	Het
Ifna12	A	T	4: 88,521,531 (GRCm39)	C5*	probably null	Het
Igf2bp2	G	T	16: 21,894,843 (GRCm39)	S300*	probably null	Het
Ighv6-5	T	C	12: 114,380,362 (GRCm39)	R71G	probably benign	Het
Lrrc37	A	G	11: 103,504,969 (GRCm39)	V2333A	probably benign	Het
Lrrn4cl	T	C	19: 8,829,252 (GRCm39)	S77P	probably damaging	Het
Mast4	A	G	13: 102,923,929 (GRCm39)	L302P	probably damaging	Het
Mink1	T	C	11: 70,500,927 (GRCm39)	V831A	possibly damaging	Het
Mme	T	A	3: 63,207,674 (GRCm39)	I40N	probably damaging	Het
Myh2	A	G	11: 67,077,438 (GRCm39)	T858A	probably benign	Het
Ncbp3	T	A	11: 72,940,700 (GRCm39)	Y67N	probably damaging	Het
Nedd1	T	A	10: 92,534,104 (GRCm39)	I349F	possibly damaging	Het
Nek11	A	T	9: 105,200,368 (GRCm39)	*81K	probably null	Het
Nrip1	A	G	16: 76,090,718 (GRCm39)	Y280H	probably damaging	Het
Obsl1	T	C	1: 75,476,788 (GRCm39)	D722G	probably benign	Het
Or10ag55-ps1	T	G	2: 87,139,902 (GRCm39)	S256R	probably benign	Het
Or2m12	A	T	16: 19,105,181 (GRCm39)	I104K	probably damaging	Het
Or4c29	A	G	2: 88,740,734 (GRCm39)	M1T	probably null	Het
Or5i1	A	G	2: 87,613,100 (GRCm39)	D72G	possibly damaging	Het
Or6c7	C	T	10: 129,323,545 (GRCm39)	T222I	probably damaging	Het
Pcdhb6	A	G	18: 37,467,966 (GRCm39)	I296V	probably benign	Het
Pcnx2	G	T	8: 126,489,552 (GRCm39)	L1681M	probably damaging	Het
Pdlim5	T	C	3: 141,983,674 (GRCm39)	R360G	possibly damaging	Het
Peli2	C	T	14: 48,488,051 (GRCm39)	Q81*	probably null	Het
Pitpnb	C	T	5: 111,486,263 (GRCm39)	Q56*	probably null	Het
Ppp1r3a	A	G	6: 14,754,603 (GRCm39)	S215P	possibly damaging	Het
Prrt3	A	G	6: 113,471,989 (GRCm39)	Y728H	probably damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sbno1	T	C	5: 124,516,542 (GRCm39)	H1277R	possibly damaging	Het
Siglecg	C	A	7: 43,061,441 (GRCm39)	N481K	possibly damaging	Het
Sirt6	C	T	10: 81,462,339 (GRCm39)	G20D	probably damaging	Het
Sit1	C	A	4: 43,482,981 (GRCm39)	R89S	probably benign	Het
Slc7a12	A	G	3: 14,546,094 (GRCm39)	R80G	probably damaging	Het
Smok3c	T	A	5: 138,062,747 (GRCm39)	M78K	probably benign	Het
Stk10	T	A	11: 32,553,654 (GRCm39)		probably null	Het
Tada2b	A	G	5: 36,634,008 (GRCm39)	V190A	probably damaging	Het
Tnk1	C	T	11: 69,747,780 (GRCm39)	V41I	probably damaging	Het
Tpr	T	A	1: 150,299,567 (GRCm39)	V1146E	probably benign	Het
Trappc9	T	C	15: 72,929,930 (GRCm39)	D142G	probably benign	Het
Trpm3	T	C	19: 22,965,178 (GRCm39)	Y1558H	probably damaging	Het
Unc5c	C	A	3: 141,383,914 (GRCm39)	S97R	probably damaging	Het
Vmn1r172	T	C	7: 23,359,583 (GRCm39)	I156T	probably damaging	Het
Vmn2r51	A	T	7: 9,821,921 (GRCm39)	M588K	possibly damaging	Het
Vps26a	T	G	10: 62,304,119 (GRCm39)	E117D	probably damaging	Het
Zfp451	A	T	1: 33,842,627 (GRCm39)		probably benign	Het
Zfp534	C	A	4: 147,759,145 (GRCm39)	R508I	probably benign	Het
Zp3r	C	T	1: 130,526,642 (GRCm39)	C187Y	probably 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
R1487:Cdc16	UTSW	8	13,821,445 (GRCm39)	missense	probably benign	0.17
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
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'- GTGTGACCTCAGAGAATCCC -3'
(R):5'- TCTAAGGTCTTGGAGGAGGAC -3'

Sequencing Primer
(F):5'- GACCTCAGAGAATCCCTAATTTAAAC -3'
(R):5'- CCTCTGCATCCTAGTGAATAGAATAC -3'

Posted On

2017-10-10