Mutagenetix > Incidental Mutation

Incidental Mutation 'R7940:Cul5'

649010

Institutional Source

Beutler Lab

Gene Symbol

Cul5

Ensembl Gene

ENSMUSG00000032030

Gene Name

cullin 5

Synonyms

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

MMRRC Submission

045986-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53614582-53670014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53623769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 612 (S612T)

Ref Sequence

ENSEMBL: ENSMUSP00000034529 (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: S612T

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: S612T

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
AA Change: S408T

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030
AA Change: S408T

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

possibly damaging
Transcript: ENSMUST00000166367
AA Change: S585T

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: S585T

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

0.1687

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 131,351,038	M238T	probably benign	Het
Acacb	C	T	5: 114,166,047	S177F	possibly damaging	Het
Afap1l2	A	G	19: 56,914,165	V822A	probably damaging	Het
Akap2	A	G	4: 57,883,026	K790E	probably damaging	Het
Alpk3	C	T	7: 81,093,945	P1170L	probably damaging	Het
Aox3	A	G	1: 58,188,437	I1234V	probably damaging	Het
Ascc1	G	A	10: 60,012,559	V103M	probably null	Het
Brca2	C	G	5: 150,538,733	T654S	probably benign	Het
Cblb	T	C	16: 52,152,536	F410S	probably damaging	Het
Cep95	T	A	11: 106,796,148	N94K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cpe	T	A	8: 64,594,911	S440C	probably damaging	Het
Cspg4	C	T	9: 56,888,097	Q1039*	probably null	Het
Dapl1	T	C	2: 59,484,768		probably null	Het
Deptor	C	T	15: 55,208,848	T241M	probably benign	Het
Dnaaf1	A	G	8: 119,582,715	T181A	possibly damaging	Het
Dnajc11	G	T	4: 151,968,588	Q156H	probably benign	Het
Dst	T	C	1: 34,167,676	V975A	possibly damaging	Het
Elf3	T	A	1: 135,257,128	S107C	probably damaging	Het
Enpp2	T	A	15: 54,906,928	D105V	probably damaging	Het
Fam122a	G	A	19: 24,477,188	R57W	probably benign	Het
Fgd6	G	A	10: 94,120,482	V1008I	probably benign	Het
Frmpd2	C	T	14: 33,554,893	R1157*	probably null	Het
Gabrg2	A	C	11: 41,967,647	V218G	probably benign	Het
Gdpgp1	C	T	7: 80,239,205	A328V	probably damaging	Het
Glis1	C	G	4: 107,632,374	F719L	probably damaging	Het
Glis1	A	T	4: 107,632,375	N720Y	probably damaging	Het
Grin2c	G	T	11: 115,255,281	A546D	probably damaging	Het
Gtf3c5	G	A	2: 28,568,580	T433I	possibly damaging	Het
Jmjd6	C	A	11: 116,843,229		probably benign	Het
Kctd14	T	C	7: 97,457,684	S49P	probably damaging	Het
Lamc2	T	A	1: 153,130,775	K877*	probably null	Het
Lgr4	T	A	2: 110,006,513	S397R	probably damaging	Het
Lrp2	A	T	2: 69,432,197	I4420N	possibly damaging	Het
Lyn	A	G	4: 3,783,089	K441E	possibly damaging	Het
Minpp1	A	T	19: 32,485,959	S7C	possibly damaging	Het
Mrps9	T	A	1: 42,862,648	D105E	probably damaging	Het
Ncoa1	C	A	12: 4,313,095	A247S	possibly damaging	Het
Olfr548-ps1	G	A	7: 102,542,308	R124H	possibly damaging	Het
Olfr893	T	C	9: 38,209,200	V47A	probably benign	Het
Pcdh15	G	A	10: 74,594,190	V1250I	probably damaging	Het
Pcdha12	A	T	18: 37,020,356	T43S	probably damaging	Het
Pkn2	G	A	3: 142,810,719	R549C	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Polq	T	A	16: 37,060,642	M1056K	probably benign	Het
Ppp1r12b	A	T	1: 134,876,055	N455K	probably benign	Het
Rhbdf1	T	A	11: 32,216,258	M1L	possibly damaging	Het
Rspry1	G	T	8: 94,623,007	V8L	probably benign	Het
Slc6a20b	A	G	9: 123,607,601	V249A	probably damaging	Het
Smok2b	A	T	17: 13,236,159	H402L	possibly damaging	Het
Supt20	A	T	3: 54,713,199	N393I	probably benign	Het
Tcp11l1	T	C	2: 104,698,648	K102E	probably damaging	Het
Tpbgl	T	C	7: 99,625,591	Y353C	probably damaging	Het
Usp24	A	T	4: 106,430,544	Q2465L	probably damaging	Het
Vmn2r116	T	A	17: 23,386,972	M286K	probably damaging	Het
Wnt16	C	A	6: 22,291,189	N205K	possibly damaging	Het
Xkr7	C	A	2: 153,032,215	F67L	probably damaging	Het
Zfp473	T	G	7: 44,734,576	E111A	probably damaging	Het
Zfp74	T	C	7: 29,932,442	K126E	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
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
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
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'- TAAGTAACACTTTCTACTAACACCCA -3'
(R):5'- CCAAGCTTTTAAGGAAATGCACAA -3'

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

Posted On

2020-09-15