Mutagenetix > Incidental Mutation

Incidental Mutation 'R0746:Cul1'

70127

Institutional Source

Beutler Lab

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

MMRRC Submission

038927-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0746 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 47518288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122702 (fasta)

Gene Model

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

AlphaFold

Q9WTX6

Predicted Effect

probably null
Transcript: ENSMUST00000031697

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686

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

probably null
Transcript: ENSMUST00000031697

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686

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 null
Transcript: ENSMUST00000146200

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686

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

probably null
Transcript: ENSMUST00000146200

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686

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: ENSMUST00000151934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154201

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.3%

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	T	C	17: 79,628,286		probably benign	Het
Acvr1	T	C	2: 58,500,550	M1V	probably null	Het
Adamts10	T	A	17: 33,549,547	C866*	probably null	Het
Adgrv1	G	A	13: 81,570,556	P4S	probably benign	Het
Arhgef37	A	G	18: 61,517,993		probably null	Het
Arid4b	A	G	13: 14,143,038	T169A	probably benign	Het
Cabp7	A	T	11: 4,738,900	I190N	probably damaging	Het
Capn13	A	C	17: 73,351,508	D188E	probably benign	Het
Ces1d	A	G	8: 93,189,468	F177S	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Csmd2	T	A	4: 128,414,297	C1283S	probably damaging	Het
F7	T	G	8: 13,034,740	S255R	probably benign	Het
Fanci	T	A	7: 79,439,681	I955N	probably damaging	Het
Focad	C	A	4: 88,397,214	D1536E	possibly damaging	Het
Fus	A	G	7: 127,985,424		probably benign	Het
Gpr146	C	T	5: 139,393,222	R260W	probably damaging	Het
Grid1	T	C	14: 34,822,690	F73L	possibly damaging	Het
Ilf2	T	A	3: 90,482,807	V142D	probably damaging	Het
Kcna2	A	G	3: 107,105,168	D355G	probably benign	Het
Mgat4c	T	C	10: 102,388,687	F254S	probably damaging	Het
Mrps10	A	C	17: 47,372,639	R139S	probably benign	Het
Myh2	A	G	11: 67,173,431	T71A	probably benign	Het
Myo1d	A	C	11: 80,586,879	Y893D	possibly damaging	Het
Ncapd2	T	C	6: 125,174,264	E760G	possibly damaging	Het
Olfr509	A	T	7: 108,646,041	D178E	probably damaging	Het
Olfr745	T	A	14: 50,642,775		probably null	Het
Pkhd1	T	A	1: 20,198,107	D3349V	probably damaging	Het
Ptprn2	A	C	12: 116,901,017	M551L	probably benign	Het
Ptprq	A	G	10: 107,517,831	Y2275H	probably damaging	Het
Rfx7	A	G	9: 72,619,106	T1193A	probably benign	Het
Rtl1	T	C	12: 109,592,960	D815G	probably damaging	Het
Scn1a	T	A	2: 66,351,126	T18S	probably benign	Het
Sept5	T	C	16: 18,623,225	H277R	probably damaging	Het
Sh3bp5l	A	G	11: 58,346,347	S377G	probably benign	Het
Snx2	T	A	18: 53,197,889	I142K	possibly damaging	Het
Spata31d1a	C	A	13: 59,702,263	D684Y	possibly damaging	Het
Taar6	C	A	10: 23,985,360	S96I	probably benign	Het
Thsd7b	C	A	1: 130,188,531	H1340Q	probably benign	Het
Tmem115	C	T	9: 107,537,999	T329M	probably benign	Het
Tmem50b	C	T	16: 91,581,690		probably null	Het
Uhrf1bp1l	T	A	10: 89,805,454	I829K	probably benign	Het
Wdr64	A	T	1: 175,792,973	D316V	possibly damaging	Het
Yars	C	A	4: 129,197,286	S162R	probably damaging	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
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
R5141:Cul1	UTSW	6	47520839	missense	probably benign	0.04
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
R8842:Cul1	UTSW	6	47515076	missense	probably damaging	1.00
R8899:Cul1	UTSW	6	47497312	missense	possibly damaging	0.84
R9093:Cul1	UTSW	6	47518239	missense	probably damaging	1.00
R9352:Cul1	UTSW	6	47502492	missense	probably benign	0.00
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'- GCTTTCAGATGTGCAACATTCCACC -3'
(R):5'- TGGTCTCACTCAGCAAAGCTGC -3'

Sequencing Primer
(F):5'- CTGCATATTGAAGACCCAATTGTCC -3'
(R):5'- GCCACCATCCCATCTGG -3'

Posted On

2013-09-30