Mutagenetix > Incidental Mutation

Incidental Mutation 'R4592:Cul5'

342908

Institutional Source

Beutler Lab

Gene Symbol

Cul5

Ensembl Gene

ENSMUSG00000032030

Gene Name

cullin 5

Synonyms

VACM-1, C030032G03Rik, C330021I08Rik, 8430423K24Rik, 4921514I20Rik

MMRRC Submission

041808-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53614582-53670014 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 53633727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034529] [ENSMUST00000120122] [ENSMUST00000166367]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034529

SMART Domains

Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030

Domain	Start	End	E-Value	Type
PDB:2WZK\|A	76	461	N/A	PDB
SCOP:d1ldja2	91	459	1e-109	SMART
CULLIN	510	661	1.12e-80	SMART
Cullin_Nedd8	782	849	5.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120122

SMART Domains

Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030

Domain	Start	End	E-Value	Type
PDB:4JGH\|D	1	258	N/A	PDB
SCOP:d1ldja2	5	255	2e-75	SMART
CULLIN	306	457	1.12e-80	SMART
Cullin_Nedd8	578	645	5.12e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141180

Predicted Effect

probably benign
Transcript: ENSMUST00000166367

SMART Domains

Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030

Domain	Start	End	E-Value	Type
PDB:2WZK\|A	76	434	N/A	PDB
SCOP:d1ldja2	91	432	9e-99	SMART
CULLIN	483	634	1.12e-80	SMART
Cullin_Nedd8	755	822	5.12e-17	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit complete embryonic lethality. Mice heterozygous for a null allele exhibit decreased susceptibility to LPS-induced lung injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,615	S144P	probably damaging	Het
4933430I17Rik	T	A	4: 62,538,927	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,546,709	V521A	possibly damaging	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
Casp12	T	C	9: 5,352,923		probably benign	Het
Ccdc189	C	T	7: 127,585,491	R172H	probably benign	Het
Cenpf	G	A	1: 189,679,033	T318M	probably damaging	Het
Clcn2	T	C	16: 20,709,142	K525E	probably damaging	Het
Cntln	A	G	4: 84,971,182	T301A	probably benign	Het
Crat	T	C	2: 30,415,366		probably benign	Het
Cxcl14	A	T	13: 56,295,895	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,771,394	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,529,493	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,233,479	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,467,895	F169S	probably damaging	Het
Ddx52	T	C	11: 83,957,480	I532T	probably damaging	Het
Dnm1	T	C	2: 32,336,011	D352G	probably damaging	Het
Eif4g2	T	C	7: 111,078,302	E174G	probably damaging	Het
Enpp6	G	T	8: 47,093,032	V386L	probably damaging	Het
Eps15l1	T	C	8: 72,341,394	D904G	probably damaging	Het
Esrrb	A	G	12: 86,518,830	Y356C	probably damaging	Het
Flt3	A	T	5: 147,354,699	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,858,902	C716S	probably damaging	Het
Gm10125	T	C	18: 5,525,375		noncoding transcript	Het
Gm26996	T	A	6: 130,579,485		noncoding transcript	Het
Grik2	A	T	10: 49,422,615	F50I	possibly damaging	Het
Guf1	T	C	5: 69,566,443	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,391,796	V55A	probably benign	Het
Impg1	T	A	9: 80,440,854	I33F	probably benign	Het
Ltbp4	A	C	7: 27,325,183	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,918,290	L529H	probably damaging	Het
Negr1	T	C	3: 157,208,386		probably benign	Het
Neurog3	A	G	10: 62,133,820	T25A	probably damaging	Het
Olfr1241	T	A	2: 89,482,756	K126N	probably damaging	Het
Olfr1420	T	C	19: 11,896,762	V247A	probably benign	Het
Olfr181	T	C	16: 58,926,092	T160A	probably benign	Het
Olfr555	A	C	7: 102,659,478	Y219S	probably damaging	Het
Pax8	T	A	2: 24,443,189		probably benign	Het
Pcsk6	A	C	7: 65,931,732	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,459,216	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,925,259		probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rptor	A	G	11: 119,798,840	D321G	probably null	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Sdccag3	C	A	2: 26,388,897		probably benign	Het
Skp1a	T	C	11: 52,243,619	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,128,556	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,592,804	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,036,060	A472V	probably damaging	Het
Srsf6	T	C	2: 162,931,723	I18T	probably damaging	Het
Stom	C	T	2: 35,323,746	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,173,400	V449I	probably benign	Het
Triobp	C	T	15: 78,967,095	A483V	probably benign	Het
Vdac1	G	A	11: 52,374,972		probably null	Het
Vmn2r75	T	G	7: 86,166,286	E123D	probably benign	Het
Vmn2r79	T	A	7: 87,004,111	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,306,591	N1376K	possibly damaging	Het

Other mutations in Cul5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Cul5	APN	9	53635007	missense	probably damaging	1.00
IGL02043:Cul5	APN	9	53658673	missense	probably benign	0.26
IGL02145:Cul5	APN	9	53635075	splice site	probably benign
IGL02261:Cul5	APN	9	53635037	missense	probably damaging	1.00
IGL02281:Cul5	APN	9	53635049	missense	possibly damaging	0.87
IGL02639:Cul5	APN	9	53655342	missense	possibly damaging	0.89
IGL02697:Cul5	APN	9	53655331	missense	probably benign
IGL02752:Cul5	APN	9	53634978	missense	probably damaging	0.98
IGL03017:Cul5	APN	9	53644485	critical splice donor site	probably null
IGL03031:Cul5	APN	9	53642675	splice site	probably benign
IGL03196:Cul5	APN	9	53625880	missense	probably damaging	0.99
R0142:Cul5	UTSW	9	53635050	missense	probably damaging	0.98
R0415:Cul5	UTSW	9	53667070	missense	probably benign	0.00
R1619:Cul5	UTSW	9	53658593	missense	probably benign	0.00
R1675:Cul5	UTSW	9	53646683	missense	probably benign	0.00
R2031:Cul5	UTSW	9	53667180	missense	probably benign
R2059:Cul5	UTSW	9	53667156	missense	probably damaging	0.98
R3401:Cul5	UTSW	9	53621212	missense	probably benign	0.02
R3427:Cul5	UTSW	9	53617890	missense	probably benign
R3701:Cul5	UTSW	9	53629216	missense	probably damaging	0.99
R3702:Cul5	UTSW	9	53629216	missense	probably damaging	0.99
R3815:Cul5	UTSW	9	53622943	missense	probably benign	0.31
R3848:Cul5	UTSW	9	53617986	missense	probably benign	0.34
R3849:Cul5	UTSW	9	53617986	missense	probably benign	0.34
R3850:Cul5	UTSW	9	53617986	missense	probably benign	0.34
R4690:Cul5	UTSW	9	53622871	missense	probably damaging	1.00
R5154:Cul5	UTSW	9	53625867	missense	probably damaging	1.00
R5173:Cul5	UTSW	9	53642734	missense	probably benign
R5645:Cul5	UTSW	9	53622943	missense	probably benign	0.17
R5868:Cul5	UTSW	9	53658673	missense	probably benign	0.26
R5975:Cul5	UTSW	9	53622793	missense	probably damaging	1.00
R6251:Cul5	UTSW	9	53646794	missense	probably benign	0.40
R6284:Cul5	UTSW	9	53623735	missense	probably damaging	1.00
R6415:Cul5	UTSW	9	53646683	missense	probably benign	0.00
R7178:Cul5	UTSW	9	53644526	missense	probably benign	0.01
R7511:Cul5	UTSW	9	53625969	missense	probably damaging	1.00
R7923:Cul5	UTSW	9	53624166	missense	probably benign	0.00
R7940:Cul5	UTSW	9	53623769	missense	probably benign	0.21
R8481:Cul5	UTSW	9	53646823	missense	probably benign	0.00
R9483:Cul5	UTSW	9	53621174	missense	probably benign	0.10
X0018:Cul5	UTSW	9	53622929	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTCCTGGTTGAATCCGAG -3'
(R):5'- CTACAATAGTGGTTGAAACAGCAGAC -3'

Sequencing Primer
(F):5'- CCTGGTTGAATCCGAGTTCAC -3'
(R):5'- TGGTTGAAACAGCAGACTAGTAAATC -3'

Posted On

2015-09-24