Mutagenetix > Incidental Mutations

Incidental Mutation 'R5141:Cul1'

396454

Institutional Source

Beutler Lab

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

MMRRC Submission

042727-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47520839 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 618 (D618G)

Ref Sequence

ENSEMBL: ENSMUSP00000122702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031697] [ENSMUST00000146200]

Predicted Effect

probably benign
Transcript: ENSMUST00000031697
AA Change: D618G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: D618G

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	17	410	1e-174	SMART
CULLIN	447	594	3.69e-81	SMART
low complexity region	638	651	N/A	INTRINSIC
Cullin_Nedd8	703	770	6.19e-34	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126877

Predicted Effect

probably benign
Transcript: ENSMUST00000146200
AA Change: D618G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: D618G

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	17	410	1e-176	SMART
CULLIN	447	594	3.69e-81	SMART
low complexity region	638	651	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154201

Meta Mutation Damage Score

0.0891

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (76/79)

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations accumulate cyclin E1 and exhibit arrested development and lethality around embryonic day 6.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,573,128	V193A	probably benign	Het
Adamts18	T	A	8: 113,775,270	T320S	probably damaging	Het
Adamtsl1	G	T	4: 86,156,850	M151I	possibly damaging	Het
Adgrv1	A	T	13: 81,270,918	V5986E	probably damaging	Het
Aifm3	A	G	16: 17,499,722	E69G	probably damaging	Het
Akap13	C	A	7: 75,609,614	T662K	probably benign	Het
Alms1	A	G	6: 85,621,432	D1080G	probably benign	Het
Als2	T	C	1: 59,170,452	E1457G	possibly damaging	Het
Apobec4	A	G	1: 152,756,213		probably benign	Het
Apoo-ps	C	T	13: 107,414,395		noncoding transcript	Het
Aspscr1	G	A	11: 120,689,177	V181I	probably benign	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
C3	T	A	17: 57,219,570	I804F	probably damaging	Het
Cbfa2t3	C	T	8: 122,635,021	G421R	probably benign	Het
Chmp4c	A	G	3: 10,367,153	E41G	probably damaging	Het
Clk4	T	A	11: 51,275,771	F96L	possibly damaging	Het
Ctsg	G	A	14: 56,101,727	R25*	probably null	Het
Cylc2	T	C	4: 51,228,587		probably benign	Het
Dip2a	G	A	10: 76,270,453	T1326I	probably damaging	Het
Etnk2	A	G	1: 133,368,862	I210V	probably benign	Het
Gm5773	T	A	3: 93,773,727	D235E	probably benign	Het
Gm7353	T	C	7: 3,111,001		noncoding transcript	Het
Gpi1	G	A	7: 34,227,096		probably benign	Het
Ing4	T	C	6: 125,039,874	M5T	probably benign	Het
Inpp4a	A	G	1: 37,380,087	I583V	probably benign	Het
Isyna1	T	C	8: 70,594,893	V64A	probably damaging	Het
Katnal2	T	A	18: 76,997,641	D310V	probably damaging	Het
Kbtbd8	A	G	6: 95,121,839	T126A	probably damaging	Het
Kif13a	T	C	13: 46,752,721	D582G	probably benign	Het
Lmf2	G	A	15: 89,351,607		probably null	Het
Lrp2	T	C	2: 69,552,349		probably null	Het
Lrp4	T	C	2: 91,478,678		probably benign	Het
Lyzl1	A	C	18: 4,169,209	D71A	possibly damaging	Het
Mak	C	T	13: 41,032,563	C543Y	possibly damaging	Het
Mapk8ip1	T	C	2: 92,386,765	D404G	probably damaging	Het
Mdga1	C	T	17: 29,852,493	E385K	probably benign	Het
Mst1r	T	A	9: 107,912,241	I573N	probably damaging	Het
Muc5ac	T	A	7: 141,814,742	N2365K	possibly damaging	Het
Ncan	T	C	8: 70,112,837	E179G	probably damaging	Het
Nlgn2	C	T	11: 69,825,390	R775H	probably damaging	Het
Olfr1228	A	C	2: 89,249,129	Y176*	probably null	Het
Olfr44	A	G	9: 39,484,531	F238L	probably damaging	Het
Olfr975	T	G	9: 39,949,874	K299T	probably benign	Het
Pcolce	G	T	5: 137,605,750	Q352K	probably benign	Het
Peg3	G	T	7: 6,709,382	T947N	probably benign	Het
Pld3	C	T	7: 27,533,795	D344N	probably damaging	Het
Plec	A	C	15: 76,190,533	D411E	probably damaging	Het
Pmp2	C	T	3: 10,182,414	D72N	probably benign	Het
Ptpn9	T	C	9: 57,036,676	V278A	possibly damaging	Het
Rbm33	A	G	5: 28,352,689	H300R	probably damaging	Het
Rpgrip1l	T	C	8: 91,260,918	Q837R	probably benign	Het
Rwdd4a	T	C	8: 47,550,674		probably benign	Het
Sema6a	T	C	18: 47,248,388	T1048A	probably damaging	Het
Senp1	G	A	15: 98,076,607	A108V	probably benign	Het
Serpine2	G	T	1: 79,802,863	Q290K	possibly damaging	Het
Sesn1	A	G	10: 41,811,101	N27S	probably benign	Het
Shroom1	T	A	11: 53,463,982	L243*	probably null	Het
Slc17a5	A	G	9: 78,540,988	Y395H	probably damaging	Het
Slc5a8	T	C	10: 88,919,560		probably null	Het
Sptbn5	G	A	2: 120,061,731	S1083F	probably benign	Het
Stx4a	T	A	7: 127,846,615	V231E	probably damaging	Het
Swt1	A	T	1: 151,411,394	S116T	probably benign	Het
Syt9	C	T	7: 107,504,219	T408I	probably damaging	Het
Tgm7	T	C	2: 121,100,999	T228A	probably benign	Het
Tmem115	A	G	9: 107,537,942	D310G	probably benign	Het
Trcg1	G	A	9: 57,241,304	G53D	probably damaging	Het
Tsfm	T	C	10: 127,029,613	K100E	probably damaging	Het
Usp1	A	G	4: 98,934,209	T587A	probably damaging	Het
Vcpip1	G	T	1: 9,748,077	A27E	unknown	Het
Vmn2r49	T	C	7: 9,986,373	N397S	probably benign	Het
Vmn2r8	A	G	5: 108,808,706	S17P	probably damaging	Het
Vwa3b	A	G	1: 37,187,021		probably benign	Het
Ythdc2	T	A	18: 44,865,047	S1094T	probably benign	Het
Zbtb22	C	G	17: 33,918,636	S585C	possibly damaging	Het
Zhx2	A	G	15: 57,821,786	T184A	probably benign	Het

Other mutations in Cul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Cul1	APN	6	47509044	missense	probably benign
IGL02410:Cul1	APN	6	47485014	missense	probably damaging	1.00
IGL02458:Cul1	APN	6	47525608	missense	possibly damaging	0.91
IGL02490:Cul1	APN	6	47514886	missense	probably damaging	0.98
IGL03065:Cul1	APN	6	47495081	missense	probably damaging	1.00
IGL03387:Cul1	APN	6	47501209	missense	probably damaging	0.96
IGL02837:Cul1	UTSW	6	47523205	missense	probably benign	0.01
R0064:Cul1	UTSW	6	47502415	splice site	probably benign
R0064:Cul1	UTSW	6	47502415	splice site	probably benign
R0436:Cul1	UTSW	6	47523773	missense	probably benign	0.16
R0746:Cul1	UTSW	6	47518288	splice site	probably null
R1103:Cul1	UTSW	6	47517177	missense	probably benign	0.03
R1471:Cul1	UTSW	6	47514886	missense	probably damaging	0.98
R1746:Cul1	UTSW	6	47508245	missense	probably damaging	0.98
R1852:Cul1	UTSW	6	47520830	missense	probably damaging	0.99
R1858:Cul1	UTSW	6	47525524	splice site	probably null
R1937:Cul1	UTSW	6	47508355	missense	probably benign	0.19
R1964:Cul1	UTSW	6	47502571	missense	probably damaging	0.98
R2985:Cul1	UTSW	6	47502507	missense	probably damaging	1.00
R4452:Cul1	UTSW	6	47508989	nonsense	probably null
R4653:Cul1	UTSW	6	47484963	missense	probably damaging	1.00
R4860:Cul1	UTSW	6	47517146	missense	probably benign	0.38
R4860:Cul1	UTSW	6	47517191	missense	probably damaging	0.99
R4860:Cul1	UTSW	6	47517146	missense	probably benign	0.38
R4860:Cul1	UTSW	6	47517191	missense	probably damaging	0.99
R5328:Cul1	UTSW	6	47508317	missense	probably damaging	0.99
R5399:Cul1	UTSW	6	47485084	splice site	probably null
R5593:Cul1	UTSW	6	47485086	nonsense	probably null
R5593:Cul1	UTSW	6	47514991	missense	probably damaging	0.99
R5616:Cul1	UTSW	6	47523788	missense	probably damaging	1.00
R5855:Cul1	UTSW	6	47523213	missense	probably benign	0.00
R6382:Cul1	UTSW	6	47502439	missense	probably damaging	1.00
R6670:Cul1	UTSW	6	47517134	missense	probably damaging	1.00
R6964:Cul1	UTSW	6	47516509	missense	probably benign	0.01
R8146:Cul1	UTSW	6	47495093	missense	possibly damaging	0.50
R8373:Cul1	UTSW	6	47515063	missense	possibly damaging	0.78
RF001:Cul1	UTSW	6	47524581	missense	possibly damaging	0.50
RF055:Cul1	UTSW	6	47517133	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATGTCCATTCCCCTGGTTG -3'
(R):5'- GGATCTATCTGGCCTGGTCTTC -3'

Sequencing Primer
(F):5'- CCCCTGGTTGTGACATTTTG -3'
(R):5'- GCCTTGGTCAGAGTTTACTGC -3'

Posted On

2016-06-21