Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01152:Cul4b'

53369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cul4b

Ensembl Gene

ENSMUSG00000031095

Gene Name

cullin 4B

Synonyms

2700050M05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01152

Quality Score

Status

Chromosome

Chromosomal Location

37622151-37665073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37632247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 709 (M709V)

Ref Sequence

ENSEMBL: ENSMUSP00000110771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016681] [ENSMUST00000050083] [ENSMUST00000115118] [ENSMUST00000147129]

AlphaFold

A2A432

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016681
AA Change: M635V

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000016681
Gene: ENSMUSG00000031095
AA Change: M635V

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
low complexity region	43	53	N/A	INTRINSIC
low complexity region	60	68	N/A	INTRINSIC
low complexity region	118	139	N/A	INTRINSIC
SCOP:d1ldja2	197	538	1e-119	SMART
CULLIN	571	719	2.66e-73	SMART
Blast:CULLIN	722	776	4e-22	BLAST
Cullin_Nedd8	825	890	1.39e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000050083
AA Change: M709V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059276
Gene: ENSMUSG00000031095
AA Change: M709V

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
low complexity region	29	63	N/A	INTRINSIC
low complexity region	78	98	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
low complexity region	134	142	N/A	INTRINSIC
low complexity region	192	213	N/A	INTRINSIC
SCOP:d1ldja2	271	612	1e-121	SMART
CULLIN	645	793	2.66e-73	SMART
Blast:CULLIN	796	850	3e-22	BLAST
Cullin_Nedd8	899	964	1.39e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115118
AA Change: M709V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110771
Gene: ENSMUSG00000031095
AA Change: M709V

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
low complexity region	29	63	N/A	INTRINSIC
low complexity region	78	98	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
low complexity region	134	142	N/A	INTRINSIC
low complexity region	192	213	N/A	INTRINSIC
SCOP:d1ldja2	271	612	1e-121	SMART
CULLIN	645	793	2.66e-73	SMART
Blast:CULLIN	796	850	3e-22	BLAST
Cullin_Nedd8	899	964	1.39e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147129

SMART Domains

Protein: ENSMUSP00000136083
Gene: ENSMUSG00000031095

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
low complexity region	43	53	N/A	INTRINSIC
low complexity region	60	68	N/A	INTRINSIC
low complexity region	118	139	N/A	INTRINSIC
Pfam:Cullin	200	548	2.4e-82	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit impaired spatial learning and memory, increased susceptibility to PTZ-induced seizures, abnormal dendrite morphology on hippocampal neurons. Mice homozygous for a null allele exhibitembryonic lethality and abnormal placenta. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	T	G	1: 192,515,947 (GRCm39)		noncoding transcript	Het
Abcb4	G	A	5: 9,000,678 (GRCm39)	V1031M	probably benign	Het
Abcc4	A	G	14: 118,836,797 (GRCm39)	S655P	probably damaging	Het
Actn1	T	C	12: 80,245,820 (GRCm39)	K121R	probably damaging	Het
Aldh1l2	T	A	10: 83,358,750 (GRCm39)	R82*	probably null	Het
Arhgap31	T	A	16: 38,422,601 (GRCm39)	H1155L	possibly damaging	Het
Atp8a1	G	T	5: 68,004,549 (GRCm39)	P2Q	probably damaging	Het
Bcs1l	A	G	1: 74,631,174 (GRCm39)	M401V	possibly damaging	Het
Brca2	A	T	5: 150,465,855 (GRCm39)	N1873I	probably damaging	Het
Cenpj	T	C	14: 56,789,757 (GRCm39)	N764S	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Clk1	A	T	1: 58,452,611 (GRCm39)	C359S	possibly damaging	Het
Clk2	T	A	3: 89,083,818 (GRCm39)	F479I	probably damaging	Het
D130052B06Rik	G	T	11: 33,573,620 (GRCm39)		probably null	Het
Dgkb	T	A	12: 38,134,233 (GRCm39)	N46K	probably damaging	Het
Dnah9	C	T	11: 65,962,882 (GRCm39)	R1811H	probably damaging	Het
Dnajc18	T	C	18: 35,813,926 (GRCm39)	N281S	probably benign	Het
Galnt5	A	T	2: 57,915,405 (GRCm39)	I654L	probably benign	Het
Gm9989	T	G	3: 81,829,518 (GRCm39)		noncoding transcript	Het
Gpr179	T	C	11: 97,228,237 (GRCm39)	E1306G	probably benign	Het
Gsc	C	A	12: 104,437,864 (GRCm39)	K219N	probably damaging	Het
Gsx2	A	T	5: 75,236,452 (GRCm39)	I11F	probably damaging	Het
Igdcc4	A	C	9: 65,042,446 (GRCm39)	E121A	probably damaging	Het
Lama2	C	T	10: 27,084,425 (GRCm39)	R915H	probably benign	Het
Large2	A	G	2: 92,200,984 (GRCm39)	L64P	probably damaging	Het
Lztr1	C	A	16: 17,340,317 (GRCm39)	Q136K	probably damaging	Het
Mageb18	A	G	X: 91,163,430 (GRCm39)	W271R	possibly damaging	Het
Magoh	A	C	4: 107,742,203 (GRCm39)		probably benign	Het
Matcap2	A	T	9: 22,346,460 (GRCm39)	H356L	probably benign	Het
Mrgprx1	T	C	7: 47,671,234 (GRCm39)	H171R	probably benign	Het
Muc1	C	A	3: 89,138,061 (GRCm39)	T301K	probably benign	Het
Nbas	C	T	12: 13,410,959 (GRCm39)	L868F	probably damaging	Het
Nwd2	A	G	5: 63,963,872 (GRCm39)	D1152G	possibly damaging	Het
Or5p68	C	T	7: 107,946,156 (GRCm39)	A11T	probably benign	Het
Or7d10	G	A	9: 19,832,245 (GRCm39)	V247M	possibly damaging	Het
Ovgp1	T	A	3: 105,893,488 (GRCm39)	D420E	possibly damaging	Het
Pacsin3	A	G	2: 91,094,121 (GRCm39)	D350G	probably benign	Het
Pcolce2	A	T	9: 95,574,976 (GRCm39)	N309Y	probably damaging	Het
Pim2	C	A	X: 7,744,661 (GRCm39)		probably benign	Het
Plcb1	A	G	2: 134,655,579 (GRCm39)	Y53C	probably damaging	Het
Pogk	T	C	1: 166,236,047 (GRCm39)	E18G	probably damaging	Het
Pxdn	T	A	12: 30,051,936 (GRCm39)	D704E	probably damaging	Het
Rb1	C	A	14: 73,443,310 (GRCm39)	S781I	probably damaging	Het
Rnpepl1	A	G	1: 92,843,621 (GRCm39)	H247R	possibly damaging	Het
Scube1	A	T	15: 83,497,771 (GRCm39)	F697I	probably damaging	Het
Sel1l3	G	T	5: 53,273,675 (GRCm39)	H1064N	probably damaging	Het
Serinc3	A	G	2: 163,478,831 (GRCm39)	Y99H	probably damaging	Het
Slc36a2	T	A	11: 55,060,673 (GRCm39)		probably benign	Het
Smarcc1	A	C	9: 109,968,693 (GRCm39)	E130A	possibly damaging	Het
Strc	A	G	2: 121,201,276 (GRCm39)	M1273T	probably benign	Het
Tmem116	A	G	5: 121,601,862 (GRCm39)	I21V	probably benign	Het
Tmem190	T	C	7: 4,787,025 (GRCm39)		probably benign	Het
Trim63	C	T	4: 134,052,987 (GRCm39)	A316V	probably benign	Het
Ugt2b34	T	C	5: 87,049,062 (GRCm39)	E321G	probably damaging	Het
Zfat	T	A	15: 67,982,353 (GRCm39)	R1053S	probably damaging	Het

Other mutations in Cul4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1420:Cul4b	UTSW	X	37,653,918 (GRCm39)	splice site	probably null
R1791:Cul4b	UTSW	X	37,636,728 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21