Mutagenetix > Incidental Mutations

Incidental Mutation 'R5122:Cdc16'

500887

Institutional Source

Beutler Lab

Gene Symbol

Cdc16

Ensembl Gene

ENSMUSG00000038416

Gene Name

CDC16 cell division cycle 16

Synonyms

2810431D22Rik, 2700071J12Rik

MMRRC Submission

042710-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5122 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

13757676-13781938 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13764570 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 118 (Y118F)

Ref Sequence

ENSEMBL: ENSMUSP00000147399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043962] [ENSMUST00000130173] [ENSMUST00000134645]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043962
AA Change: Y212F

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047950
Gene: ENSMUSG00000038416
AA Change: Y212F

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: ENSMUST00000129872

Predicted Effect

probably damaging
Transcript: ENSMUST00000130173
AA Change: Y118F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134645

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,034,757		probably null	Het
Acan	T	C	7: 79,100,661	S1727P	probably damaging	Het
Actr8	A	T	14: 29,982,715	K57N	possibly damaging	Het
Bcan	G	T	3: 87,994,207	S396Y	probably damaging	Het
Bmp2k	A	G	5: 97,087,015		probably benign	Het
Cd274	A	G	19: 29,380,565	H219R	possibly damaging	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Chchd3	T	C	6: 32,968,305	R89G	probably benign	Het
Clstn2	C	T	9: 97,461,421	V658M	probably damaging	Het
Cpt1b	A	G	15: 89,424,023	S160P	probably benign	Het
Crym	T	C	7: 120,195,495	N167S	probably benign	Het
Dhx16	T	A	17: 35,883,310	Y438N	probably damaging	Het
Dnah12	A	G	14: 26,718,000	R536G	probably benign	Het
Dnajc11	A	G	4: 151,976,997	D382G	possibly damaging	Het
Dync1h1	G	A	12: 110,629,680	G1547D	probably damaging	Het
Eml3	T	A	19: 8,937,696		probably null	Het
Ep400	G	A	5: 110,668,170	P2799S	probably damaging	Het
Ephb6	T	C	6: 41,613,404	V30A	probably benign	Het
Fam53b	T	A	7: 132,779,262		probably benign	Het
Fcrl1	A	G	3: 87,385,774	K246R	probably benign	Het
Focad	G	A	4: 88,407,365		probably null	Het
Glipr1l2	T	C	10: 112,107,056	I272T	possibly damaging	Het
Gm597	A	G	1: 28,780,060	S47P	probably benign	Het
Gm8104	A	G	14: 43,109,093	I101V	probably benign	Het
Grm5	A	G	7: 88,074,820	I773V	probably damaging	Het
Hyal1	A	T	9: 107,578,069	T193S	probably benign	Het
Igkv10-94	C	A	6: 68,704,671	G62*	probably null	Het
Itsn1	A	G	16: 91,893,844		probably benign	Het
Kank4	A	G	4: 98,756,567	S983P	probably damaging	Het
Krtap16-1	C	A	11: 99,985,697	V294F	probably damaging	Het
Lama3	T	G	18: 12,539,766	V866G	possibly damaging	Het
Lrba	C	T	3: 86,349,154	R1268*	probably null	Het
Lrriq1	C	T	10: 103,187,453	V984I	probably damaging	Het
Macf1	A	C	4: 123,452,292	V4136G	probably damaging	Het
Mdn1	A	T	4: 32,670,593	E419D	probably damaging	Het
Nedd4l	A	G	18: 65,191,447	Y473C	probably damaging	Het
Nod2	G	T	8: 88,664,120	D330Y	probably damaging	Het
Nt5c2	C	T	19: 46,889,921	C458Y	probably damaging	Het
Numa1	T	C	7: 102,013,769	I681T	probably damaging	Het
Olfr713	C	A	7: 107,036,848	S231*	probably null	Het
Papolg	C	T	11: 23,867,501		probably null	Het
Parn	A	G	16: 13,654,447		probably null	Het
Pgap2	T	C	7: 102,231,391	F42S	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Pofut2	G	C	10: 77,268,565	R392P	probably damaging	Het
Prpf18	T	C	2: 4,643,709	D102G	probably damaging	Het
Rreb1	T	A	13: 37,930,768	I701N	probably benign	Het
Slc26a5	T	C	5: 21,847,196	K45R	probably damaging	Het
Slc8a3	A	G	12: 81,314,258		probably null	Het
Slf1	T	A	13: 77,049,987	M723L	probably benign	Het
Sra1	T	C	18: 36,667,594	T187A	probably benign	Het
Stk17b	A	C	1: 53,776,558	N27K	probably damaging	Het
Tbc1d9	T	A	8: 83,236,543	Y295N	probably damaging	Het
Tubgcp6	A	G	15: 89,116,103	V353A	probably damaging	Het
Unc80	A	T	1: 66,679,590	T2991S	possibly damaging	Het
Urb1	G	A	16: 90,752,095	R2242*	probably null	Het
Vasp	T	C	7: 19,264,772	N20S	probably benign	Het
Zfp263	A	G	16: 3,749,855	H390R	probably damaging	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
R0564:Cdc16	UTSW	8	13781618	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTTCTGTCTTCTAAACGTGTATGTGAC -3'
(R):5'- TTAGACAGCACAGACCGAAGTG -3'

Sequencing Primer
(F):5'- GTGACATCCTTGTTACTATGGAAGTC -3'
(R):5'- AGACCGAAGTGCACATTCTG -3'

Posted On

2017-12-01