Mutagenetix > Incidental Mutation

Incidental Mutation 'R4521:Cdc20b'

334237

Institutional Source

Beutler Lab

Gene Symbol

Cdc20b

Ensembl Gene

ENSMUSG00000078926

Gene Name

cell division cycle 20B

Synonyms

EG622422, EG238896

MMRRC Submission

041764-MU

Accession Numbers

Genbank: XM_138861

Is this an essential gene?

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

Stock #

R4521 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113035111-113091195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113081191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 381 (I381M)

Ref Sequence

ENSEMBL: ENSMUSP00000137849 (fasta)

Gene Model

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

AlphaFold

D3Z3I0

Predicted Effect

probably damaging
Transcript: ENSMUST00000109244
AA Change: I381M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104867
Gene: ENSMUSG00000078926
AA Change: I381M

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: I381M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137915
Gene: ENSMUSG00000078926
AA Change: I381M

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

probably damaging
Transcript: ENSMUST00000181568
AA Change: I381M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137849
Gene: ENSMUSG00000078926
AA Change: I381M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232584

Meta Mutation Damage Score

0.4371

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,660,670	N700D	probably benign	Het
Bora	G	T	14: 99,068,548	S451I	probably damaging	Het
Cadm3	A	T	1: 173,345,063		probably null	Het
Car14	A	G	3: 95,904,378		probably benign	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Col12a1	C	T	9: 79,633,357	V2449I	probably benign	Het
Crb2	T	C	2: 37,795,337		probably benign	Het
Dcaf6	A	T	1: 165,390,490	D347E	probably damaging	Het
Dlgap2	G	A	8: 14,727,871	R372H	probably damaging	Het
Fat3	T	C	9: 15,922,942	N4118S	probably null	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Fpr2	A	C	17: 17,893,247	R168S	probably benign	Het
Ghr	A	G	15: 3,325,958	I281T	probably damaging	Het
Glmp	C	A	3: 88,328,039	N259K	possibly damaging	Het
Grhl3	T	C	4: 135,546,250	K564E	probably damaging	Het
Helz2	T	C	2: 181,228,833	H2875R	probably benign	Het
Lcp1	A	G	14: 75,215,168	D438G	possibly damaging	Het
Lrfn2	T	A	17: 49,069,894	M1K	probably null	Het
Lrp6	A	G	6: 134,485,862	C612R	probably damaging	Het
Map3k13	T	C	16: 21,905,775	V341A	possibly damaging	Het
Megf8	T	A	7: 25,342,701	C1315S	probably benign	Het
Mrgpra9	A	T	7: 47,235,190	L243H	probably damaging	Het
Mrgprx1	T	C	7: 48,021,699	D100G	probably benign	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Nup93	T	C	8: 94,314,636	Y801H	probably damaging	Het
Olfr623	C	T	7: 103,660,332	R306H	probably benign	Het
Olfr810	T	A	10: 129,791,181	N136I	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Plce1	T	C	19: 38,524,319	S21P	possibly damaging	Het
Plpp2	A	G	10: 79,530,625	Y118H	probably damaging	Het
Ppwd1	A	G	13: 104,209,659	V496A	probably benign	Het
Rbm20	A	G	19: 53,817,202	N466S	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Skida1	T	C	2: 18,045,872		probably benign	Het
Stk17b	A	G	1: 53,764,038	Y73H	probably damaging	Het
Tapbpl	A	G	6: 125,228,122	I287T	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Topbp1	T	C	9: 103,334,202		probably benign	Het
Tsen54	G	A	11: 115,817,106		probably null	Het
Ttn	G	A	2: 76,725,216	R28736*	probably null	Het
Wdr36	G	A	18: 32,841,148		probably null	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
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
R6887:Cdc20b	UTSW	13	113078653	missense	possibly damaging	0.88
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'- TCTTCCTCTCTAACTCAGTGGG -3'
(R):5'- AATCCCAGCTAGCTCTCACT -3'

Sequencing Primer
(F):5'- CTCTAACTCAGTGGGTCCAGATTG -3'
(R):5'- GAGAGGGTCTCACTAAATTGCCC -3'

Posted On

2015-08-18