Mutagenetix > Incidental Mutations

Incidental Mutation 'R6284:Cul5'

508115

Institutional Source

Beutler Lab

Gene Symbol

Cul5

Ensembl Gene

ENSMUSG00000032030

Gene Name

cullin 5

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53614582-53670014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53623735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 596 (P596L)

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 damaging
Transcript: ENSMUST00000034529
AA Change: P623L

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

SMART Domains

Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: P623L

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 damaging
Transcript: ENSMUST00000120122
AA Change: P419L

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

SMART Domains

Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030
AA Change: P419L

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: ENSMUST00000141803

Predicted Effect

probably damaging
Transcript: ENSMUST00000166367
AA Change: P596L

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

SMART Domains

Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: P596L

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

Meta Mutation Damage Score

0.9694

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,347,454	G16C	probably damaging	Het
Abca7	G	A	10: 80,004,410	V801I	probably benign	Het
Adgrl2	A	T	3: 148,826,507	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,844,568	T423A	possibly damaging	Het
Anpep	T	A	7: 79,825,802	D111V	probably damaging	Het
Atm	T	A	9: 53,445,376		probably null	Het
Atp5a1	T	A	18: 77,778,468	S106T	probably benign	Het
Atp5k	T	C	5: 108,434,059	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605		probably null	Het
Bclaf1	T	G	10: 20,322,160		probably null	Het
Bod1l	A	G	5: 41,818,787	V1728A	probably benign	Het
Braf	A	G	6: 39,688,282	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,304,437	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,869,653		probably null	Het
Cdh26	G	C	2: 178,449,884	G79R	probably damaging	Het
Cenpf	A	G	1: 189,652,742	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,451,796	F863L	probably damaging	Het
Clstn2	C	T	9: 97,454,674	G917S	probably benign	Het
Col6a6	A	T	9: 105,727,227		probably null	Het
Dst	A	T	1: 34,229,085	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,814,041	E69G	possibly damaging	Het
Erich2	T	A	2: 70,539,684	I402N	probably damaging	Het
Fam160a1	G	A	3: 85,672,688	P737S	probably benign	Het
Fam162b	T	C	10: 51,585,502	K155R	probably damaging	Het
Glb1l2	A	T	9: 26,767,448	S466T	probably benign	Het
Gm21994	T	A	2: 150,255,278	Y77F	possibly damaging	Het
Gm5724	T	C	6: 141,725,393	D451G	probably damaging	Het
Ikbkap	A	T	4: 56,762,281	I1106K	probably damaging	Het
Kazn	G	A	4: 142,117,197	L402F	probably benign	Het
Kcnj13	A	T	1: 87,386,886	S205T	probably damaging	Het
Lama1	T	A	17: 67,810,096	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,656,104	C41G	unknown	Het
Lyar	T	A	5: 38,225,995	W77R	probably damaging	Het
March11	G	A	15: 26,409,346	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,138,787	F869L	probably benign	Het
Myom1	T	A	17: 71,022,892	Y6*	probably null	Het
Myzap	T	C	9: 71,558,925	I150V	probably benign	Het
Nop14	C	T	5: 34,641,491		probably null	Het
Oprl1	T	A	2: 181,717,991		probably benign	Het
Pacsin1	T	C	17: 27,708,504	L432P	probably damaging	Het
Peak1	A	G	9: 56,260,296	L116P	probably benign	Het
Plcb2	C	T	2: 118,717,301	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,734,984	I269N	probably damaging	Het
Pnpla7	C	A	2: 25,016,618	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,370,417	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,161,187	T113K	probably benign	Het
Rrp7a	A	T	15: 83,121,860	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,589,921		probably null	Het
Stxbp5	A	C	10: 9,767,179	S1059A	probably benign	Het
Stxbp5	C	A	10: 9,767,187	G1056V	probably damaging	Het
Taldo1	T	A	7: 141,398,583	S149T	possibly damaging	Het
Tlr1	T	C	5: 64,927,099	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 123,171,335	S783P	probably damaging	Het
Trap1	A	G	16: 4,060,809	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,600	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,943,962	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,080,833	Y398H	probably damaging	Het
Ube2z	A	G	11: 96,050,407	F303S	probably damaging	Het
Vmn1r211	A	G	13: 22,852,084	S138P	probably damaging	Het
Zfp93	T	A	7: 24,275,629	C346*	probably null	Het
Zfp938	A	T	10: 82,227,566	S52R	possibly damaging	Het
Zp1	A	T	19: 10,916,503	L446Q	probably 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
R4592:Cul5	UTSW	9	53633727	splice site	probably benign
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
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
X0018:Cul5	UTSW	9	53622929	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAAACTACAGTCCTGAAAACACAG -3'
(R):5'- AGACTTGAACCAAGCTTTTAAGGA -3'

Sequencing Primer
(F):5'- CTTCTGGAAAAGCAGAGTTCGTAACC -3'
(R):5'- TCCTGACCTTTAGAAGAGCAGTCG -3'

Posted On

2018-03-15