Mutagenetix > Incidental Mutation

Incidental Mutation 'R6887:Cdc20b'

537009

Institutional Source

Beutler Lab

Gene Symbol

Cdc20b

Ensembl Gene

ENSMUSG00000078926

Gene Name

cell division cycle 20B

Synonyms

EG622422, EG238896

MMRRC Submission

Accession Numbers

Genbank: XM_138861

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113035111-113091195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113078653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 252 (S252P)

Ref Sequence

ENSEMBL: ENSMUSP00000137915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109244] [ENSMUST00000181117] [ENSMUST00000181568]

AlphaFold

D3Z3I0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109244
AA Change: S252P

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104867
Gene: ENSMUSG00000078926
AA Change: S252P

Domain	Start	End	E-Value	Type
low complexity region	85	97	N/A	INTRINSIC
WD40	218	257	6.6e1	SMART
WD40	266	301	5.75e-1	SMART
WD40	304	341	9.24e-1	SMART
WD40	345	383	9.02e-7	SMART
WD40	391	432	3.55e1	SMART
WD40	473	517	2.01e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181117
AA Change: S252P

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137915
Gene: ENSMUSG00000078926
AA Change: S252P

Domain	Start	End	E-Value	Type
low complexity region	85	97	N/A	INTRINSIC
WD40	218	257	6.6e1	SMART
WD40	266	301	5.75e-1	SMART
WD40	304	341	9.24e-1	SMART
WD40	345	383	9.02e-7	SMART
WD40	391	432	3.55e1	SMART
WD40	473	513	1.78e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181568
AA Change: S252P

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137849
Gene: ENSMUSG00000078926
AA Change: S252P

Domain	Start	End	E-Value	Type
low complexity region	85	97	N/A	INTRINSIC
WD40	218	257	6.6e1	SMART
WD40	266	301	5.75e-1	SMART
WD40	304	341	9.24e-1	SMART
WD40	345	383	9.02e-7	SMART
WD40	431	475	2.01e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 79,092,483	V543I	probably damaging	Het
Adcy5	A	G	16: 35,298,590	I1104V	possibly damaging	Het
Adgrl4	A	T	3: 151,542,733	I681F	possibly damaging	Het
Adgrv1	T	A	13: 81,528,701	M2004L	probably benign	Het
Anapc1	A	G	2: 128,659,768	S785P	possibly damaging	Het
Ap3d1	A	T	10: 80,723,698	I242N	probably damaging	Het
Arhgap5	T	C	12: 52,519,144	L966P	probably benign	Het
Atp8a1	T	C	5: 67,738,451	T547A	probably benign	Het
Cadps	A	G	14: 12,505,811	F753S	probably damaging	Het
Cep63	A	G	9: 102,625,927		probably benign	Het
Chrna5	G	T	9: 55,005,133	V302L	probably benign	Het
Crtc2	A	G	3: 90,261,071	T374A	probably damaging	Het
Dmtf1	T	G	5: 9,137,149	D140A	probably damaging	Het
Exosc8	C	T	3: 54,733,699	V39M	probably damaging	Het
Fam135b	A	C	15: 71,463,315	S677A	probably damaging	Het
Hif1an	T	C	19: 44,563,389	Y93H	probably damaging	Het
Hrc	T	C	7: 45,335,664	F80L	probably benign	Het
Jmjd1c	A	G	10: 67,189,820	T139A	possibly damaging	Het
Kdr	T	G	5: 75,968,451	R178S	probably benign	Het
Lrrc61	A	C	6: 48,568,432	N63T	probably damaging	Het
Mrc1	C	T	2: 14,325,237	A1219V	possibly damaging	Het
Neto1	T	C	18: 86,498,635	V359A	probably benign	Het
Ngly1	T	C	14: 16,281,836	I364T	probably benign	Het
Nisch	C	T	14: 31,185,344		probably benign	Het
Olfr1373	C	A	11: 52,145,352	M59I	probably benign	Het
Prrc2a	T	C	17: 35,155,675	D1333G	probably damaging	Het
Raly	G	T	2: 154,861,910	V134F	probably damaging	Het
Rbm6	T	C	9: 107,852,231	Y406C	probably damaging	Het
Robo4	G	C	9: 37,402,067	E6Q	possibly damaging	Het
Scnn1g	C	A	7: 121,760,444	S383R	probably benign	Het
Sgtb	T	C	13: 104,111,151	W13R	probably benign	Het
Slit3	T	C	11: 35,544,806		probably null	Het
Tbc1d32	G	A	10: 56,151,811	Q732*	probably null	Het
Tek	T	A	4: 94,804,944	C247S	probably damaging	Het
Tmf1	A	T	6: 97,176,838	D91E	probably damaging	Het
Usp39	A	G	6: 72,333,157	L326P	probably damaging	Het
Vmn2r7	A	T	3: 64,690,827	C770S	probably damaging	Het
Wdr31	C	T	4: 62,457,565	G58R	probably benign	Het
Zfyve26	A	G	12: 79,266,449	I54T	probably damaging	Het

Other mutations in Cdc20b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Cdc20b	APN	13	113059785	missense	possibly damaging	0.74
IGL02603:Cdc20b	APN	13	113078755	missense	possibly damaging	0.88
IGL02663:Cdc20b	APN	13	113056131	critical splice donor site	probably null
IGL03024:Cdc20b	APN	13	113091042	missense	possibly damaging	0.58
IGL03379:Cdc20b	APN	13	113081202	missense	probably damaging	1.00
H8930:Cdc20b	UTSW	13	113083966	missense	probably damaging	1.00
R0207:Cdc20b	UTSW	13	113078612	missense	probably damaging	1.00
R0347:Cdc20b	UTSW	13	113059827	missense	probably damaging	0.97
R0448:Cdc20b	UTSW	13	113078657	missense	probably damaging	1.00
R0499:Cdc20b	UTSW	13	113055950	missense	probably benign	0.00
R1573:Cdc20b	UTSW	13	113055944	missense	probably benign	0.26
R1651:Cdc20b	UTSW	13	113078724	nonsense	probably null
R1786:Cdc20b	UTSW	13	113081134	missense	probably damaging	1.00
R1929:Cdc20b	UTSW	13	113071917	missense	probably benign	0.07
R2118:Cdc20b	UTSW	13	113078698	missense	probably benign	0.30
R3436:Cdc20b	UTSW	13	113078699	missense	probably damaging	0.99
R3508:Cdc20b	UTSW	13	113081042	missense	possibly damaging	0.80
R3837:Cdc20b	UTSW	13	113084008	missense	probably damaging	1.00
R4050:Cdc20b	UTSW	13	113064285	missense	probably benign
R4521:Cdc20b	UTSW	13	113081191	missense	probably damaging	1.00
R4786:Cdc20b	UTSW	13	113078734	missense	probably damaging	1.00
R6079:Cdc20b	UTSW	13	113084042	missense	probably damaging	1.00
R6610:Cdc20b	UTSW	13	113064262	missense	probably benign	0.02
R6814:Cdc20b	UTSW	13	113083975	missense	probably damaging	1.00
R6872:Cdc20b	UTSW	13	113083975	missense	probably damaging	1.00
R7144:Cdc20b	UTSW	13	113083371	missense	probably benign	0.36
R7579:Cdc20b	UTSW	13	113037048	splice site	probably null
R7770:Cdc20b	UTSW	13	113078659	missense	probably benign	0.01
R8669:Cdc20b	UTSW	13	113071926	missense	possibly damaging	0.83
R8985:Cdc20b	UTSW	13	113059796	nonsense	probably null
R9182:Cdc20b	UTSW	13	113071969	critical splice donor site	probably null
R9309:Cdc20b	UTSW	13	113079938	missense	probably damaging	1.00
R9378:Cdc20b	UTSW	13	113056097	missense	probably benign	0.03
U15987:Cdc20b	UTSW	13	113084042	missense	probably damaging	1.00
X0064:Cdc20b	UTSW	13	113059742	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- ATGATCTCATCTGGTTCAGGAC -3'
(R):5'- CATGCTGGACGTTATCTAGTGAC -3'

Sequencing Primer
(F):5'- GGTTCAGGACTTCATTTGATATCAG -3'
(R):5'- CTGGACGTTATCTAGTGACTGCAC -3'

Posted On

2018-10-18