Mutagenetix > Incidental Mutation

Incidental Mutation 'R7946:Cdc16'

649360

Institutional Source

Beutler Lab

Gene Symbol

Cdc16

Ensembl Gene

ENSMUSG00000038416

Gene Name

CDC16 cell division cycle 16

Synonyms

2700071J12Rik, 2810431D22Rik

MMRRC Submission

045991-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R7946 (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 13812882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 138 (K138R)

Ref Sequence

ENSEMBL: ENSMUSP00000047950 (fasta)

Gene Model

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

AlphaFold

Q8R349

Predicted Effect

probably benign
Transcript: ENSMUST00000043962
AA Change: K138R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047950
Gene: ENSMUSG00000038416
AA Change: K138R

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
AA Change: K44R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000134645
AA Change: K44R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,398 (GRCm39)	T1186A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Afap1	A	G	5: 36,092,995 (GRCm39)	N33S	probably benign	Het
Afap1	G	A	5: 36,141,396 (GRCm39)		probably null	Het
Ampd3	A	G	7: 110,377,147 (GRCm39)	D46G	probably damaging	Het
Anks4b	A	G	7: 119,781,707 (GRCm39)	K246R	probably benign	Het
Aqp9	C	T	9: 71,030,290 (GRCm39)	V192M	probably damaging	Het
Aspscr1	T	G	11: 120,599,443 (GRCm39)	S132A		Het
Atp2b4	C	A	1: 133,658,320 (GRCm39)	R530L	probably damaging	Het
Bahcc1	T	C	11: 120,163,325 (GRCm39)	V541A	probably benign	Het
Caprin1	A	T	2: 103,603,093 (GRCm39)	V490E	probably damaging	Het
Ccdc7a	T	A	8: 129,643,627 (GRCm39)	K734M	probably damaging	Het
Ccdc9b	G	T	2: 118,590,146 (GRCm39)	P233T	probably benign	Het
Cela2a	A	G	4: 141,549,617 (GRCm39)	S53P	possibly damaging	Het
Clca3a2	A	G	3: 144,513,075 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,206,047 (GRCm39)	E373G	possibly damaging	Het
Csmd2	T	C	4: 128,414,058 (GRCm39)	Y2633H		Het
Ctbp1	A	T	5: 33,407,688 (GRCm39)	M296K	probably benign	Het
Dido1	G	T	2: 180,303,501 (GRCm39)	Q1468K	possibly damaging	Het
Dnah7b	T	C	1: 46,272,739 (GRCm39)	F2289S	probably damaging	Het
Fndc7	T	A	3: 108,779,452 (GRCm39)	D364V	possibly damaging	Het
Ggt7	G	T	2: 155,347,892 (GRCm39)	H180Q	probably damaging	Het
Gm14399	A	T	2: 174,973,273 (GRCm39)	C161S	probably damaging	Het
Gm17324	T	C	9: 78,355,794 (GRCm39)	T62A	unknown	Het
Gpr107	A	G	2: 31,078,716 (GRCm39)	I384V	probably damaging	Het
Igsf10	C	A	3: 59,227,125 (GRCm39)	V2183L	possibly damaging	Het
Il23r	T	A	6: 67,411,648 (GRCm39)	H363L	possibly damaging	Het
Inka2	T	A	3: 105,623,761 (GRCm39)	L45H	probably damaging	Het
Iqsec1	A	T	6: 90,667,252 (GRCm39)	I291N	probably damaging	Het
Kcnc3	A	T	7: 44,245,569 (GRCm39)	T620S	probably benign	Het
Kif2b	T	C	11: 91,466,571 (GRCm39)	N571D	probably benign	Het
Klrb1c	T	A	6: 128,766,072 (GRCm39)		probably benign	Het
Mgst2	A	G	3: 51,584,991 (GRCm39)	N55S	probably damaging	Het
Neb	T	C	2: 52,102,746 (GRCm39)	D4509G	probably damaging	Het
Obox1	G	T	7: 15,289,456 (GRCm39)	V82F	probably benign	Het
Or4k51	A	T	2: 111,585,163 (GRCm39)	M190L	probably benign	Het
Or5p59	A	G	7: 107,703,053 (GRCm39)	D179G	probably benign	Het
Or7e174	T	C	9: 20,012,780 (GRCm39)	S242P	probably damaging	Het
Pakap	A	T	4: 57,710,045 (GRCm39)	N330I	probably damaging	Het
Phf21a	A	T	2: 92,189,512 (GRCm39)	E590D	probably damaging	Het
Rai14	T	C	15: 10,574,287 (GRCm39)		probably null	Het
Rfx7	T	C	9: 72,524,096 (GRCm39)	Y429H	probably damaging	Het
Spata31d1d	G	T	13: 59,878,606 (GRCm39)	A77E	probably benign	Het
Stra8	A	G	6: 34,907,816 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,200,919 (GRCm39)	S3550P	possibly damaging	Het
Tars2	A	T	3: 95,657,693 (GRCm39)	H249Q	probably damaging	Het
Tomm5	T	C	4: 45,107,969 (GRCm39)	E22G	probably benign	Het
Tor1a	A	G	2: 30,853,704 (GRCm39)		probably null	Het
Trim43b	A	G	9: 88,973,538 (GRCm39)	I65T	probably damaging	Het
Ubr3	T	C	2: 69,781,739 (GRCm39)	M640T	possibly damaging	Het
Vegfa	A	T	17: 46,336,377 (GRCm39)	Y248N	probably damaging	Het
Vmn1r172	T	G	7: 23,358,857 (GRCm39)		probably null	Het
Vmn1r29	G	T	6: 58,284,834 (GRCm39)	V185F	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wdfy4	T	C	14: 32,792,705 (GRCm39)	K2114E		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
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'- TCTAGCCTGGTGAAGCTAAGG -3'
(R):5'- GTGTACCTTGCCCTTAATTATACAG -3'

Sequencing Primer
(F):5'- AAGGCTTCGTTTTGATGTTGTATATC -3'
(R):5'- CAGATTTCAGAAAATAAGCGAAGCC -3'

Posted On

2020-09-15