Mutagenetix > Incidental Mutation

Incidental Mutation 'R9668:Cdc16'

727926

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 #

R9668 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13807676-13831938 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13817552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 288 (S288T)

Ref Sequence

ENSEMBL: ENSMUSP00000047950 (fasta)

Gene Model

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

AlphaFold

Q8R349

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043962
AA Change: S288T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047950
Gene: ENSMUSG00000038416
AA Change: S288T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	G	T	11: 116,089,137 (GRCm39)	Y60*	probably null	Het
Acp7	T	A	7: 28,314,562 (GRCm39)		probably null	Het
Adamts17	G	A	7: 66,797,438 (GRCm39)	V1052I	possibly damaging	Het
Ankrd13b	T	A	11: 77,368,594 (GRCm39)	E42V	possibly damaging	Het
Ano1	C	A	7: 144,164,579 (GRCm39)		probably null	Het
Atp5pb	C	T	3: 105,863,356 (GRCm39)	V27I	probably benign	Het
C2cd2	A	G	16: 97,671,418 (GRCm39)	S494P	probably damaging	Het
Cd320	G	A	17: 34,065,113 (GRCm39)	C82Y	probably damaging	Het
Chrne	A	G	11: 70,507,779 (GRCm39)		probably null	Het
Col12a1	G	A	9: 79,546,960 (GRCm39)	Q2291*	probably null	Het
Cps1	A	G	1: 67,213,649 (GRCm39)	S794G	probably benign	Het
Csmd1	A	T	8: 16,261,772 (GRCm39)	D908E	probably benign	Het
Dpf1	C	T	7: 29,009,084 (GRCm39)	Q70*	probably null	Het
Fam227a	A	T	15: 79,526,444 (GRCm39)	N129K	probably benign	Het
Fcho2	T	A	13: 98,913,965 (GRCm39)	I211F	probably benign	Het
Fezf1	T	C	6: 23,247,574 (GRCm39)	D167G	probably benign	Het
Flt3	G	A	5: 147,293,694 (GRCm39)	P461S	probably benign	Het
Fry	G	T	5: 150,282,318 (GRCm39)	A314S	probably damaging	Het
Gm6309	A	G	5: 146,105,026 (GRCm39)	S296P	probably benign	Het
Gmppb	T	G	9: 107,928,362 (GRCm39)	V291G	probably damaging	Het
Hmcn1	G	T	1: 150,619,492 (GRCm39)	S1207R	probably benign	Het
Iars1	C	T	13: 49,840,885 (GRCm39)	P6L	probably damaging	Het
Kdm5d	T	A	Y: 943,075 (GRCm39)	S1519R	possibly damaging	Het
Kpna2	G	A	11: 106,881,541 (GRCm39)	T363I	probably damaging	Het
Lrp1b	A	T	2: 41,075,982 (GRCm39)	H1886Q		Het
Meak7	T	C	8: 120,488,514 (GRCm39)	E436G	probably damaging	Het
Mettl5	C	T	2: 69,711,723 (GRCm39)	D48N	probably benign	Het
Mfsd4a	C	T	1: 131,969,628 (GRCm39)	G442S	probably damaging	Het
Mief2	A	G	11: 60,622,074 (GRCm39)	T215A	probably damaging	Het
Myt1	C	T	2: 181,452,135 (GRCm39)	T824I	probably damaging	Het
Naprt	C	A	15: 75,765,281 (GRCm39)	V148L	possibly damaging	Het
Nckap1l	C	T	15: 103,382,277 (GRCm39)	R491C	probably damaging	Het
Nr1i2	A	G	16: 38,071,573 (GRCm39)	M321T	possibly damaging	Het
Nup107	A	T	10: 117,610,383 (GRCm39)	I355N	possibly damaging	Het
Or10j2	G	A	1: 173,098,183 (GRCm39)	G147D	possibly damaging	Het
Or10x4	A	T	1: 174,218,898 (GRCm39)	N88Y	probably benign	Het
Or1e28-ps1	A	G	11: 73,615,658 (GRCm39)	I64T	probably benign	Het
Or1l4b	T	G	2: 37,036,518 (GRCm39)	M98R	probably damaging	Het
Or4a80	T	G	2: 89,582,636 (GRCm39)	I179L	probably benign	Het
Or4k35	T	G	2: 111,100,287 (GRCm39)	I142L	probably benign	Het
Pccb	T	C	9: 100,876,634 (GRCm39)	D320G	possibly damaging	Het
Pcdhgb6	A	T	18: 37,875,561 (GRCm39)	I90L	probably benign	Het
Pik3r2	A	G	8: 71,221,459 (GRCm39)	S682P	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plagl1	A	G	10: 13,004,466 (GRCm39)	Q578R	unknown	Het
Ppp1r42	A	G	1: 10,073,563 (GRCm39)	I9T	probably benign	Het
Ptcd3	A	T	6: 71,871,275 (GRCm39)	I315K	possibly damaging	Het
Rnf217	A	G	10: 31,484,402 (GRCm39)	L260P	probably damaging	Het
Selp	A	T	1: 163,968,975 (GRCm39)	H525L	possibly damaging	Het
Sh3rf2	T	A	18: 42,244,347 (GRCm39)	M303K	probably benign	Het
Shprh	A	T	10: 11,082,076 (GRCm39)	I1549F	probably damaging	Het
Slc38a7	G	T	8: 96,570,772 (GRCm39)	A244D	probably benign	Het
Stxbp6	G	T	12: 44,949,740 (GRCm39)	T63K	probably damaging	Het
Syne3	A	G	12: 104,898,468 (GRCm39)	S962P	probably damaging	Het
Syt10	T	C	15: 89,711,135 (GRCm39)	I133V	probably damaging	Het
Tars1	T	A	15: 11,394,446 (GRCm39)	K64*	probably null	Het
Tcaf3	A	T	6: 42,566,636 (GRCm39)	W818R	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Trim72	C	A	7: 127,609,092 (GRCm39)	A298E	probably damaging	Het
Washc5	C	T	15: 59,218,062 (GRCm39)		probably null	Het
Zfp707	C	A	15: 75,847,085 (GRCm39)	F378L	possibly damaging	Het
Zfp839	G	A	12: 110,822,280 (GRCm39)	A365T	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
R9796:Cdc16	UTSW	8	13,807,693 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCGCTTCTAGCCAGTGTCAG -3'
(R):5'- CACTGCTTTAACATAGCAGTGTC -3'

Sequencing Primer
(F):5'- CTAGCCAGTGTCAGTGGTGGC -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2022-10-06