Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01874:Ccnb1'

178824

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccnb1

Ensembl Gene

ENSMUSG00000041431

Gene Name

cyclin B1

Synonyms

Ccnb1-rs13, Cycb-4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01874

Quality Score

Status

Chromosome

Chromosomal Location

100915247-100922994 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100920001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 170 (D170G)

Ref Sequence

ENSEMBL: ENSMUSP00000133962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072119] [ENSMUST00000091295] [ENSMUST00000174038]

AlphaFold

P24860

Predicted Effect

probably damaging
Transcript: ENSMUST00000072119
AA Change: D170G

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

SMART Domains

Protein: ENSMUSP00000071989
Gene: ENSMUSG00000041431
AA Change: D170G

Domain	Start	End	E-Value	Type
low complexity region	80	110	N/A	INTRINSIC
low complexity region	149	160	N/A	INTRINSIC
CYCLIN	204	288	3.88e-26	SMART
Cyclin_C	297	415	4.18e-37	SMART
CYCLIN	301	382	3.65e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000091295

SMART Domains

Protein: ENSMUSP00000088841
Gene: ENSMUSG00000041431

Domain	Start	End	E-Value	Type
low complexity region	80	110	N/A	INTRINSIC
CYCLIN	143	227	3.88e-26	SMART
Cyclin_C	236	354	4.18e-37	SMART
CYCLIN	240	321	3.65e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147790

Predicted Effect

probably damaging
Transcript: ENSMUST00000174038
AA Change: D170G

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

SMART Domains

Protein: ENSMUSP00000133962
Gene: ENSMUSG00000041431
AA Change: D170G

Domain	Start	End	E-Value	Type
low complexity region	80	110	N/A	INTRINSIC
low complexity region	149	160	N/A	INTRINSIC
CYCLIN	204	288	3.88e-26	SMART
Cyclin_C	297	378	3.18e-10	SMART
CYCLIN	301	384	8.4e-13	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene is embryonic lethal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	T	13: 70,916,823 (GRCm39)	V723D	possibly damaging	Het
Adgrb1	G	A	15: 74,413,423 (GRCm39)	V536I	possibly damaging	Het
Aox4	T	C	1: 58,291,243 (GRCm39)	L787S	probably damaging	Het
Atp2c1	A	C	9: 105,326,024 (GRCm39)	V293G	probably damaging	Het
Cdc42	T	C	4: 137,063,381 (GRCm39)	I4V	probably benign	Het
Clip1	T	C	5: 123,741,729 (GRCm39)	Q1175R	possibly damaging	Het
Cox6a1	A	G	5: 115,483,904 (GRCm39)	*113Q	probably null	Het
Crtc2	C	T	3: 90,165,815 (GRCm39)	P139L	probably damaging	Het
Cyp8b1	A	T	9: 121,744,969 (GRCm39)	M121K	possibly damaging	Het
D630003M21Rik	C	A	2: 158,046,644 (GRCm39)	G778C	probably damaging	Het
Dgat1	A	G	15: 76,387,241 (GRCm39)	F349L	probably damaging	Het
Enox1	A	G	14: 77,816,602 (GRCm39)	Y194C	probably damaging	Het
Fam120b	T	A	17: 15,623,301 (GRCm39)	C426*	probably null	Het
Fxyd3	A	G	7: 30,770,318 (GRCm39)		probably benign	Het
Gin1	A	G	1: 97,710,797 (GRCm39)	Y160C	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm11110	T	A	17: 57,399,693 (GRCm39)		probably benign	Het
Gm1818	T	C	12: 48,602,973 (GRCm39)		noncoding transcript	Het
Gucy1a2	T	C	9: 3,797,343 (GRCm39)	S598P	probably damaging	Het
Hook3	T	A	8: 26,529,760 (GRCm39)	N199Y	possibly damaging	Het
Il10ra	A	G	9: 45,178,458 (GRCm39)	L41P	probably damaging	Het
Itgam	C	T	7: 127,714,338 (GRCm39)	T949I	probably damaging	Het
Kctd3	A	G	1: 188,729,188 (GRCm39)	V123A	probably damaging	Het
Krt84	G	A	15: 101,436,239 (GRCm39)	A450V	probably damaging	Het
Lrrc7	G	A	3: 157,946,080 (GRCm39)		probably benign	Het
Nckap1	A	G	2: 80,355,980 (GRCm39)	F608L	probably damaging	Het
Niban2	A	T	2: 32,795,779 (GRCm39)		probably null	Het
Nmbr	A	T	10: 14,642,696 (GRCm39)	Y85F	probably benign	Het
Nol6	A	C	4: 41,115,412 (GRCm39)	L1135R	probably damaging	Het
Ntan1	T	C	16: 13,653,077 (GRCm39)	F278L	probably benign	Het
Or2n1e	T	A	17: 38,586,408 (GRCm39)	S249T	probably benign	Het
Pcsk5	T	A	19: 17,573,041 (GRCm39)	T474S	probably damaging	Het
Pex11b	T	A	3: 96,550,883 (GRCm39)		probably null	Het
Pkhd1	G	T	1: 20,173,459 (GRCm39)	A3786E	probably benign	Het
Prkdc	T	C	16: 15,552,858 (GRCm39)	I2098T	possibly damaging	Het
Prl2c5	T	A	13: 13,365,362 (GRCm39)	S169R	probably benign	Het
Ptbp2	A	G	3: 119,541,449 (GRCm39)	V196A	probably damaging	Het
Rad17	T	C	13: 100,754,192 (GRCm39)		probably benign	Het
Skic2	T	C	17: 35,060,185 (GRCm39)	N114D	probably benign	Het
Slc47a2	T	A	11: 61,203,685 (GRCm39)		probably null	Het
Srcin1	A	T	11: 97,423,924 (GRCm39)	M684K	possibly damaging	Het
Sspo	T	A	6: 48,429,124 (GRCm39)	C298S	probably damaging	Het
Tenm3	G	T	8: 48,689,793 (GRCm39)	Y1915*	probably null	Het
Tnks1bp1	A	G	2: 84,888,791 (GRCm39)	T373A	probably benign	Het
Trp63	A	C	16: 25,701,335 (GRCm39)	N470H	possibly damaging	Het
Ttn	T	C	2: 76,628,907 (GRCm39)	N12703S	probably damaging	Het
Ubr4	T	C	4: 139,120,600 (GRCm39)		probably benign	Het
Vmn2r56	T	A	7: 12,449,602 (GRCm39)	Y212F	probably benign	Het

Other mutations in Ccnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Ccnb1	APN	13	100,922,419 (GRCm39)	splice site	probably benign
IGL01775:Ccnb1	APN	13	100,920,017 (GRCm39)	missense	probably benign	0.36
IGL02108:Ccnb1	APN	13	100,917,665 (GRCm39)	critical splice donor site	probably null
IGL02170:Ccnb1	APN	13	100,919,994 (GRCm39)	nonsense	probably null
IGL02372:Ccnb1	APN	13	100,917,824 (GRCm39)	missense	probably damaging	1.00
IGL02755:Ccnb1	APN	13	100,918,168 (GRCm39)	missense	possibly damaging	0.89
IGL03142:Ccnb1	APN	13	100,920,039 (GRCm39)	missense	probably damaging	1.00
R0025:Ccnb1	UTSW	13	100,916,289 (GRCm39)	missense	probably damaging	1.00
R0499:Ccnb1	UTSW	13	100,916,642 (GRCm39)	critical splice acceptor site	probably null
R2249:Ccnb1	UTSW	13	100,917,827 (GRCm39)	missense	possibly damaging	0.79
R3108:Ccnb1	UTSW	13	100,918,132 (GRCm39)	critical splice donor site	probably null
R4934:Ccnb1	UTSW	13	100,918,209 (GRCm39)	missense	possibly damaging	0.49
R5126:Ccnb1	UTSW	13	100,918,283 (GRCm39)	missense	possibly damaging	0.88
R5127:Ccnb1	UTSW	13	100,918,283 (GRCm39)	missense	possibly damaging	0.88
R5180:Ccnb1	UTSW	13	100,918,283 (GRCm39)	missense	possibly damaging	0.88
R5181:Ccnb1	UTSW	13	100,918,283 (GRCm39)	missense	possibly damaging	0.88
R5325:Ccnb1	UTSW	13	100,918,283 (GRCm39)	missense	possibly damaging	0.88
R7024:Ccnb1	UTSW	13	100,922,888 (GRCm39)	critical splice donor site	probably null
R7583:Ccnb1	UTSW	13	100,916,262 (GRCm39)	missense	probably benign	0.06
R7632:Ccnb1	UTSW	13	100,918,209 (GRCm39)	missense	probably benign	0.32
R7833:Ccnb1	UTSW	13	100,917,859 (GRCm39)	missense	probably damaging	1.00
R9634:Ccnb1	UTSW	13	100,920,112 (GRCm39)	missense	probably benign	0.01
R9769:Ccnb1	UTSW	13	100,917,393 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07