Mutagenetix > Incidental Mutation

Incidental Mutation 'R6872:Cdc20b'

536226

Institutional Source

Beutler Lab

Gene Symbol

Cdc20b

Ensembl Gene

ENSMUSG00000078926

Gene Name

cell division cycle 20B

Synonyms

EG238896, EG622422

MMRRC Submission

044969-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113171645-113227729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113220509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 463 (G463S)

Ref Sequence

ENSEMBL: ENSMUSP00000137915 (fasta)

Gene Model

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

AlphaFold

D3Z3I0

Predicted Effect

probably damaging
Transcript: ENSMUST00000109244
AA Change: G463S

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

SMART Domains

Protein: ENSMUSP00000104867
Gene: ENSMUSG00000078926
AA Change: G463S

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

probably damaging
Transcript: ENSMUST00000181117
AA Change: G463S

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

SMART Domains

Protein: ENSMUSP00000137915
Gene: ENSMUSG00000078926
AA Change: G463S

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: G421S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137849
Gene: ENSMUSG00000078926
AA Change: G421S

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: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,750 (GRCm39)	V336I	probably benign	Het
Aadacl4fm4	A	T	4: 144,397,216 (GRCm39)	L172*	probably null	Het
Abcg3	T	C	5: 105,083,860 (GRCm39)	T637A	probably benign	Het
Ap3d1	G	A	10: 80,550,156 (GRCm39)	R692*	probably null	Het
Aqp2	C	T	15: 99,481,885 (GRCm39)	H260Y	probably benign	Het
Btbd2	C	A	10: 80,480,166 (GRCm39)	R383L	probably damaging	Het
Ccdc196	T	A	12: 78,244,141 (GRCm39)	D31E	probably damaging	Het
Ccdc24	T	C	4: 117,727,123 (GRCm39)	T196A	probably benign	Het
Ceacam5	A	T	7: 17,486,212 (GRCm39)	R570*	probably null	Het
Col12a1	A	T	9: 79,584,516 (GRCm39)	N1357K	probably damaging	Het
Cpa5	A	T	6: 30,614,053 (GRCm39)	Q65L	probably benign	Het
Ddo	A	C	10: 40,513,414 (GRCm39)	M119L	possibly damaging	Het
Dnah8	G	T	17: 30,981,653 (GRCm39)	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,200,022 (GRCm39)	N186S	probably damaging	Het
Dock4	T	C	12: 40,862,325 (GRCm39)		probably null	Het
Ear6	A	G	14: 52,091,885 (GRCm39)	Y144C	probably damaging	Het
Eng	T	A	2: 32,563,287 (GRCm39)	I281N	probably damaging	Het
Fgf2	A	G	3: 37,458,860 (GRCm39)	K85E	probably damaging	Het
Fubp1	A	T	3: 151,931,783 (GRCm39)	Q37L	probably benign	Het
Gabra2	G	T	5: 71,251,882 (GRCm39)	P22T	probably damaging	Het
Gm10401	T	C	5: 115,236,245 (GRCm39)		probably benign	Het
Gsdmc	T	C	15: 63,650,556 (GRCm39)	D275G	possibly damaging	Het
Iglv3	A	G	16: 19,060,034 (GRCm39)	I98T	probably damaging	Het
Lmod1	G	T	1: 135,292,879 (GRCm39)	R578L	probably damaging	Het
Mindy2	A	G	9: 70,524,044 (GRCm39)		probably null	Het
Neb	G	T	2: 52,183,657 (GRCm39)	Q1004K	probably damaging	Het
Nkx2-9	T	G	12: 56,658,674 (GRCm39)	N180T	probably benign	Het
Nlrp2	C	T	7: 5,311,709 (GRCm39)	R922H	probably benign	Het
Nol4l	T	C	2: 153,325,737 (GRCm39)	E116G	probably damaging	Het
Or1af1	A	T	2: 37,109,989 (GRCm39)	M163L	possibly damaging	Het
Or5ac19	A	G	16: 59,089,961 (GRCm39)	L23P	probably benign	Het
Pcdhb20	A	C	18: 37,639,218 (GRCm39)	E581D	probably benign	Het
Pidd1	G	T	7: 141,019,331 (GRCm39)	T750K	probably benign	Het
Rab44	A	G	17: 29,358,784 (GRCm39)	E324G	probably benign	Het
Ramp3	T	C	11: 6,624,768 (GRCm39)	C21R	possibly damaging	Het
Rpap1	A	C	2: 119,605,850 (GRCm39)	M345R	probably damaging	Het
Serpina3k	A	C	12: 104,310,519 (GRCm39)	K350Q	probably benign	Het
St13	C	T	15: 81,250,547 (GRCm39)		probably null	Het
Stard9	A	T	2: 120,544,549 (GRCm39)	K4497*	probably null	Het
Tbx19	A	T	1: 164,975,202 (GRCm39)		probably null	Het
Tgoln1	A	G	6: 72,592,538 (GRCm39)	V314A	possibly damaging	Het
Them4	A	T	3: 94,231,678 (GRCm39)	I172F	probably damaging	Het
Tmc7	T	A	7: 118,146,846 (GRCm39)	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,840,669 (GRCm39)	L421P	probably damaging	Het
Trim69	A	G	2: 121,998,391 (GRCm39)	E121G	probably damaging	Het
Vmn2r11	T	G	5: 109,194,976 (GRCm39)	R783S	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,412 (GRCm39)	L141F	probably benign	Het
Zbtb7a	A	G	10: 80,983,905 (GRCm39)	N449S	possibly damaging	Het
Zfhx3	C	T	8: 109,527,273 (GRCm39)	R1057W	probably damaging	Het
Zfp180	G	T	7: 23,805,306 (GRCm39)	C575F	probably damaging	Het
Zfp462	G	A	4: 55,012,326 (GRCm39)	A1431T	probably benign	Het
Zfp592	T	C	7: 80,673,576 (GRCm39)	V180A	probably benign	Het
Zfp605	C	T	5: 110,275,311 (GRCm39)	P143L	probably benign	Het
Zfp646	T	C	7: 127,482,505 (GRCm39)	S1561P	probably benign	Het
Zfp706	T	C	15: 37,002,190 (GRCm39)	T46A	possibly damaging	Het

Other mutations in Cdc20b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Cdc20b	APN	13	113,196,319 (GRCm39)	missense	possibly damaging	0.74
IGL02603:Cdc20b	APN	13	113,215,289 (GRCm39)	missense	possibly damaging	0.88
IGL02663:Cdc20b	APN	13	113,192,665 (GRCm39)	critical splice donor site	probably null
IGL03024:Cdc20b	APN	13	113,227,576 (GRCm39)	missense	possibly damaging	0.58
IGL03379:Cdc20b	APN	13	113,217,736 (GRCm39)	missense	probably damaging	1.00
H8930:Cdc20b	UTSW	13	113,220,500 (GRCm39)	missense	probably damaging	1.00
R0207:Cdc20b	UTSW	13	113,215,146 (GRCm39)	missense	probably damaging	1.00
R0347:Cdc20b	UTSW	13	113,196,361 (GRCm39)	missense	probably damaging	0.97
R0448:Cdc20b	UTSW	13	113,215,191 (GRCm39)	missense	probably damaging	1.00
R0499:Cdc20b	UTSW	13	113,192,484 (GRCm39)	missense	probably benign	0.00
R1573:Cdc20b	UTSW	13	113,192,478 (GRCm39)	missense	probably benign	0.26
R1651:Cdc20b	UTSW	13	113,215,258 (GRCm39)	nonsense	probably null
R1786:Cdc20b	UTSW	13	113,217,668 (GRCm39)	missense	probably damaging	1.00
R1929:Cdc20b	UTSW	13	113,208,451 (GRCm39)	missense	probably benign	0.07
R2118:Cdc20b	UTSW	13	113,215,232 (GRCm39)	missense	probably benign	0.30
R3436:Cdc20b	UTSW	13	113,215,233 (GRCm39)	missense	probably damaging	0.99
R3508:Cdc20b	UTSW	13	113,217,576 (GRCm39)	missense	possibly damaging	0.80
R3837:Cdc20b	UTSW	13	113,220,542 (GRCm39)	missense	probably damaging	1.00
R4050:Cdc20b	UTSW	13	113,200,819 (GRCm39)	missense	probably benign
R4521:Cdc20b	UTSW	13	113,217,725 (GRCm39)	missense	probably damaging	1.00
R4786:Cdc20b	UTSW	13	113,215,268 (GRCm39)	missense	probably damaging	1.00
R6079:Cdc20b	UTSW	13	113,220,576 (GRCm39)	missense	probably damaging	1.00
R6610:Cdc20b	UTSW	13	113,200,796 (GRCm39)	missense	probably benign	0.02
R6814:Cdc20b	UTSW	13	113,220,509 (GRCm39)	missense	probably damaging	1.00
R6887:Cdc20b	UTSW	13	113,215,187 (GRCm39)	missense	possibly damaging	0.88
R7144:Cdc20b	UTSW	13	113,219,905 (GRCm39)	missense	probably benign	0.36
R7579:Cdc20b	UTSW	13	113,173,582 (GRCm39)	splice site	probably null
R7770:Cdc20b	UTSW	13	113,215,193 (GRCm39)	missense	probably benign	0.01
R8669:Cdc20b	UTSW	13	113,208,460 (GRCm39)	missense	possibly damaging	0.83
R8985:Cdc20b	UTSW	13	113,196,330 (GRCm39)	nonsense	probably null
R9182:Cdc20b	UTSW	13	113,208,503 (GRCm39)	critical splice donor site	probably null
R9309:Cdc20b	UTSW	13	113,216,472 (GRCm39)	missense	probably damaging	1.00
R9378:Cdc20b	UTSW	13	113,192,631 (GRCm39)	missense	probably benign	0.03
U15987:Cdc20b	UTSW	13	113,220,576 (GRCm39)	missense	probably damaging	1.00
X0064:Cdc20b	UTSW	13	113,196,276 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- TGGAAGCCTTGGGATGAATCC -3'
(R):5'- CTGCCAAAGATTGCTGCTGC -3'

Sequencing Primer
(F):5'- AATTTCTGTAAATACCCAATCCTCAC -3'
(R):5'- AGATTGCTGCTGCCTAAAGC -3'

Posted On

2018-10-18