Mutagenetix > Incidental Mutation

Incidental Mutation 'R9796:Cdc16'

734943

Institutional Source

Beutler Lab

Gene Symbol

Cdc16

Ensembl Gene

ENSMUSG00000038416

Gene Name

CDC16 cell division cycle 16

Synonyms

2700071J12Rik, 2810431D22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R9796 (G1)

Quality Score

148.264

Status

Not validated

Chromosome

Chromosomal Location

13807676-13831938 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 13807693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147594 (fasta)

Gene Model

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

AlphaFold

Q8R349

Predicted Effect

probably benign
Transcript: ENSMUST00000043962

SMART Domains

Protein: ENSMUSP00000047950
Gene: ENSMUSG00000038416

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134645

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	T	10: 29,101,349 (GRCm39)	T574I	possibly damaging	Het
Aadac	T	G	3: 59,945,882 (GRCm39)	V184G	probably damaging	Het
Adam6b	G	A	12: 113,454,272 (GRCm39)	C363Y	probably damaging	Het
Adamts8	T	A	9: 30,862,569 (GRCm39)	I258N	probably damaging	Het
Adarb2	C	T	13: 8,619,852 (GRCm39)	L113F	probably damaging	Het
Aff4	A	G	11: 53,302,824 (GRCm39)	N1099S	probably damaging	Het
Alg10b	G	T	15: 90,108,728 (GRCm39)	A30S	possibly damaging	Het
Als2	T	A	1: 59,209,601 (GRCm39)	E1460D	probably benign	Het
Ascc3	C	T	10: 50,608,801 (GRCm39)	R1515*	probably null	Het
Asxl2	C	T	12: 3,546,508 (GRCm39)	P431S	probably benign	Het
AU018091	A	T	7: 3,213,785 (GRCm39)	V153D	probably damaging	Het
Cd177	A	G	7: 24,459,169 (GRCm39)	V80A	probably benign	Het
Cdk14	A	G	5: 5,316,012 (GRCm39)	S4P	probably benign	Het
Ctu2	A	T	8: 123,202,989 (GRCm39)	Y8F	probably benign	Het
Dnhd1	T	C	7: 105,342,537 (GRCm39)	F1294L	probably damaging	Het
Epha7	A	G	4: 28,817,457 (GRCm39)	D37G	probably damaging	Het
Fan1	T	A	7: 64,022,278 (GRCm39)	N325I	probably benign	Het
Fbn1	T	A	2: 125,158,941 (GRCm39)	M2275L	probably benign	Het
Fbxo38	T	C	18: 62,674,055 (GRCm39)	K9E	possibly damaging	Het
Gm3696	T	C	14: 18,435,140 (GRCm39)	N48S	possibly damaging	Het
Greb1l	A	G	18: 10,538,233 (GRCm39)	E1082G	possibly damaging	Het
Gtdc1	A	T	2: 44,715,386 (GRCm39)	N52K	probably benign	Het
Hrh2	C	T	13: 54,375,241 (GRCm39)	T359I	probably benign	Het
Ifi44l	A	G	3: 151,468,419 (GRCm39)	V37A		Het
Igfn1	C	A	1: 135,897,611 (GRCm39)	W985L	probably benign	Het
Il22b	A	G	10: 118,130,081 (GRCm39)	S108P	probably benign	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Kcnv1	T	C	15: 44,977,987 (GRCm39)	D17G	unknown	Het
Klk1	T	C	7: 43,877,965 (GRCm39)	W74R	possibly damaging	Het
Lmntd2	A	T	7: 140,793,597 (GRCm39)	N96K	possibly damaging	Het
Lrch4	A	G	5: 137,635,269 (GRCm39)	H253R	probably damaging	Het
Lrrc8d	A	T	5: 105,959,917 (GRCm39)	D109V	probably benign	Het
Magi3	T	C	3: 103,928,291 (GRCm39)	T1004A	probably benign	Het
Mapk10	A	G	5: 103,135,101 (GRCm39)	V287A	possibly damaging	Het
Mtss2	G	A	8: 111,456,753 (GRCm39)		probably null	Het
Mybpc1	T	C	10: 88,406,497 (GRCm39)	I116V	possibly damaging	Het
Mylk4	T	A	13: 32,900,643 (GRCm39)	M296L	probably damaging	Het
Nav3	A	G	10: 109,527,969 (GRCm39)	F2238S	probably damaging	Het
Or11g26	G	T	14: 50,753,229 (GRCm39)	L189F	probably damaging	Het
Pax6	T	C	2: 105,522,541 (GRCm39)	F243L	probably damaging	Het
Pcdhb22	G	A	18: 37,652,404 (GRCm39)	E34K	possibly damaging	Het
Pdzrn4	T	A	15: 92,578,353 (GRCm39)	F359I	possibly damaging	Het
Prkn	A	T	17: 11,456,554 (GRCm39)	D126V	possibly damaging	Het
Rnf168	C	T	16: 32,117,872 (GRCm39)	R478C	probably damaging	Het
Sh3gl2	G	A	4: 85,295,765 (GRCm39)	V156I	possibly damaging	Het
Taf2	A	T	15: 54,910,832 (GRCm39)	M614K	probably damaging	Het
Tbc1d31	G	A	15: 57,833,179 (GRCm39)	V973M	probably damaging	Het
Tmem131l	T	G	3: 83,829,402 (GRCm39)	K1085T	probably damaging	Het
Tpst1	A	G	5: 130,163,300 (GRCm39)	T366A	probably benign	Het
Unc50	A	G	1: 37,471,679 (GRCm39)	T110A	probably benign	Het
Vmn2r60	A	G	7: 41,785,172 (GRCm39)	H128R	probably benign	Het
Vps13a	A	T	19: 16,631,828 (GRCm39)	N2602K	probably benign	Het
Vps13d	A	G	4: 144,854,505 (GRCm39)		probably null	Het
Vps50	A	G	6: 3,562,300 (GRCm39)	E465G	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
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

Predicted Primers

PCR Primer
(F):5'- GTAAGAGGCCAGTCTGGTAC -3'
(R):5'- TCCCAAATGTCCTACGGTCC -3'

Sequencing Primer
(F):5'- CGATCTTAAAAATATCCGGTAGGG -3'
(R):5'- AGATTCCAAGGTCCCAGTGCAG -3'

Posted On

2022-11-14