Mutagenetix > Incidental Mutation

Incidental Mutation 'R0415:Cul5'

177898

Institutional Source

Beutler Lab

Gene Symbol

Cul5

Ensembl Gene

ENSMUSG00000032030

Gene Name

cullin 5

Synonyms

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

MMRRC Submission

038617-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0415 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

53614582-53670014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53667070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 73 (V73I)

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
AA Change: V73I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: V73I

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

unknown
Transcript: ENSMUST00000133872
AA Change: V1I

SMART Domains

Protein: ENSMUSP00000121734
Gene: ENSMUSG00000032030
AA Change: V1I

Domain	Start	End	E-Value	Type
PDB:2WZK\|A	5	49	4e-25	PDB
SCOP:d1ldja2	20	49	1e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146938

Predicted Effect

probably benign
Transcript: ENSMUST00000166367
AA Change: V73I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: V73I

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (99/102)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427G23Rik	A	T	5: 23,831,050		noncoding transcript	Het
Acox2	A	G	14: 8,243,835		probably benign	Het
Adgb	T	C	10: 10,431,067		probably null	Het
Adgra3	C	A	5: 49,961,757		probably benign	Het
Adgre4	G	A	17: 55,852,288	V658I	probably benign	Het
Ahnak	A	G	19: 9,012,871		probably benign	Het
Anapc2	A	G	2: 25,278,325	T159A	probably damaging	Het
Arfgef3	A	G	10: 18,613,127		probably benign	Het
Atf7ip	C	T	6: 136,560,012	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,368,830		probably benign	Het
Camk1	A	T	6: 113,341,891	Y20*	probably null	Het
Ccdc40	T	C	11: 119,232,118	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,712,615	S1380T	probably benign	Het
Cfap57	A	T	4: 118,569,431	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 106,075,080	V540I	probably damaging	Het
Cst9	T	A	2: 148,838,442		probably benign	Het
Cxcl16	T	A	11: 70,458,748	K84*	probably null	Het
Cyp2c29	T	C	19: 39,329,095		probably benign	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dip2c	C	T	13: 9,568,289		probably benign	Het
Dis3	A	T	14: 99,087,456	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,789,048	L3*	probably null	Het
Dopey1	T	A	9: 86,506,502	L480M	probably damaging	Het
Eml6	A	G	11: 29,749,392	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,180,774	N115S	probably damaging	Het
Fryl	T	C	5: 73,098,414	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,121,106	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,833,225		probably benign	Het
Gm7137	A	G	10: 77,788,173		probably benign	Het
Gstm2	T	A	3: 107,984,006	Q132L	probably benign	Het
Habp2	T	C	19: 56,317,717		probably benign	Het
Hectd2	T	C	19: 36,584,884		probably benign	Het
Htr6	A	G	4: 139,062,081	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,287,910	D199G	unknown	Het
Itih2	A	G	2: 10,105,615		probably benign	Het
Kcnab2	A	G	4: 152,395,136	F248S	probably benign	Het
Kcnc4	T	C	3: 107,445,433	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,262,975		probably null	Het
Kndc1	C	T	7: 139,930,124	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,227,006	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,811,865	L47P	probably damaging	Het
Lyst	T	C	13: 13,711,610		probably benign	Het
Macrod2	G	A	2: 142,210,145		probably null	Het
Micalcl	C	T	7: 112,381,028	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,841,339		probably benign	Het
Msh3	A	G	13: 92,346,786	V283A	possibly damaging	Het
Nup205	T	C	6: 35,214,634		probably benign	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr1023	A	T	2: 85,887,438	I213F	possibly damaging	Het
Olfr1034	A	T	2: 86,047,055	H191L	probably benign	Het
Olfr229	A	G	9: 39,909,983	Y60C	probably damaging	Het
Olfr78	C	T	7: 102,742,087	M305I	probably benign	Het
Olfr893	A	T	9: 38,209,973	M305L	probably benign	Het
Pard3	G	A	8: 127,610,566	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886	A120V	probably damaging	Het
Pcsk6	C	T	7: 66,033,874	R746C	probably damaging	Het
Pif1	G	A	9: 65,588,051	C81Y	probably benign	Het
Plcb1	A	G	2: 135,337,499	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,552,097	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,357,336	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,456	Y45C	probably damaging	Het
Pqlc3	C	A	12: 16,997,710		probably benign	Het
Prex1	A	G	2: 166,586,699		probably benign	Het
Pth2r	A	G	1: 65,388,439	M424V	probably benign	Het
Pygm	A	G	19: 6,391,366	R464G	probably benign	Het
Rad51c	A	G	11: 87,397,655	L234P	probably damaging	Het
Rnf145	A	G	11: 44,525,138	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,649,699	I135T	probably damaging	Het
Rnf213	A	T	11: 119,414,469	I509F	probably damaging	Het
Ryr2	T	C	13: 11,869,156	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,936,913	V27A	possibly damaging	Het
Selenof	T	G	3: 144,577,692	L14R	probably damaging	Het
Sfswap	A	T	5: 129,504,126	D121V	probably damaging	Het
Slc25a34	C	A	4: 141,620,469	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,229,110	T583P	probably benign	Het
Smg1	C	A	7: 118,182,468	A1199S	probably benign	Het
Spint1	A	G	2: 119,245,615	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,149,576	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,730,092		probably benign	Het
Tas2r123	A	T	6: 132,847,838	M233L	probably damaging	Het
Tbcel	C	A	9: 42,444,500	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973	S573A	probably benign	Het
Tmem132c	A	G	5: 127,563,705	E980G	probably damaging	Het
Tmem247	G	T	17: 86,922,322	C197F	probably damaging	Het
Tmem251	T	A	12: 102,744,876	Y119*	probably null	Het
Tmem43	C	A	6: 91,482,318	P257Q	probably benign	Het
Tmprss13	A	G	9: 45,337,132		probably null	Het
Trove2	G	T	1: 143,760,075	N444K	probably benign	Het
Ubr5	T	C	15: 37,972,980	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,293,836	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,900,332	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,387,279	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,961,410	C25G	probably damaging	Het
Xndc1	T	C	7: 102,080,616		probably benign	Het
Zfp282	A	G	6: 47,897,881	D340G	probably damaging	Het
Zfp282	T	A	6: 47,905,053	I558N	possibly damaging	Het
Zfp316	T	A	5: 143,264,491	T56S	unknown	Het
Zfp345	A	G	2: 150,474,559		probably benign	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
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
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'- TGGTCCCTTGAAAGCATCGCTG -3'
(R):5'- CCTAAGCCGAGATAAAGTCGTTGCC -3'

Sequencing Primer
(F):5'- AAAGCATCGCTGCGAGTC -3'
(R):5'- TGACCATGTAGCTGGAAAGCC -3'

Posted On

2014-04-30