Mutagenetix > Incidental Mutation

Incidental Mutation 'R6382:Cul1'

515364

Institutional Source

Beutler Lab

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47502439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 213 (L213Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031697 (fasta)

Gene Model

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

AlphaFold

Q9WTX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031697
AA Change: L213Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: L213Q

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

possibly damaging
Transcript: ENSMUST00000146200
AA Change: L213Q

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: L213Q

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

Meta Mutation Damage Score

0.2372

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.5%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,600,986	M148K	probably benign	Het
Aldoc	T	C	11: 78,325,742	I242T	probably benign	Het
Camta2	T	C	11: 70,672,041	T927A	probably damaging	Het
Ccdc105	G	A	10: 78,752,841	T45I	possibly damaging	Het
Ccdc30	T	C	4: 119,404,166	R25G	possibly damaging	Het
Cdh16	T	A	8: 104,621,543	M181L	possibly damaging	Het
Clstn1	A	T	4: 149,626,120		probably null	Het
Cnot6l	C	A	5: 96,128,999	R110L	probably damaging	Het
Col7a1	G	A	9: 108,975,393	S2264N	unknown	Het
Cspp1	A	G	1: 10,083,475		probably null	Het
Cuta	T	C	17: 26,938,454	Q124R	probably benign	Het
Cyp1a1	T	A	9: 57,700,690	N200K	probably damaging	Het
Dag1	C	A	9: 108,208,137	A602S	possibly damaging	Het
Gm4707	G	A	17: 71,459,243		probably benign	Het
Gm813	T	C	16: 58,613,910	E148G	possibly damaging	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
H2-T23	T	C	17: 36,031,832	Y138C	probably damaging	Het
Hnf4a	A	T	2: 163,569,006	M408L	probably benign	Het
Hpse2	A	G	19: 43,388,202	L37P	possibly damaging	Het
Hsd17b6	A	T	10: 127,991,327	I292N	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,517		probably null	Het
Ifit1bl1	T	A	19: 34,594,883	Y58F	probably benign	Het
Igkv10-95	A	G	6: 68,680,688	T43A	probably benign	Het
Igkv6-17	C	T	6: 70,371,830	Q62*	probably null	Het
Jakmip2	A	G	18: 43,571,179	S367P	possibly damaging	Het
Lrrc40	A	G	3: 158,058,696	D416G	probably damaging	Het
Mdm2	A	G	10: 117,692,721	V177A	probably benign	Het
Mpp1	TGAGACGAACTCTCCGAG	TGAG	X: 75,125,769		probably null	Het
Myo1b	C	T	1: 51,774,307		probably null	Het
Notch2	A	G	3: 98,141,543	D1799G	probably damaging	Het
Obscn	C	T	11: 58,999,413	G7431D	unknown	Het
Obscn	A	T	11: 59,042,208	C4781S	probably damaging	Het
Olfr1351	C	A	10: 79,017,517	S65Y	probably damaging	Het
Olfr237-ps1	T	A	6: 43,153,965	I220N	probably damaging	Het
Pard3	T	A	8: 127,376,783	V411D	probably damaging	Het
Pfkl	T	C	10: 77,999,837	R246G	probably damaging	Het
Pgs1	T	C	11: 118,003,360	Y238H	probably damaging	Het
Pik3c2g	A	G	6: 139,719,998	E15G	possibly damaging	Het
Pja2	A	G	17: 64,309,615	V95A	probably benign	Het
Ripor2	T	C	13: 24,677,845	I207T	possibly damaging	Het
Rps15	A	G	10: 80,293,986	Y115C	probably damaging	Het
Shkbp1	C	A	7: 27,352,059	E192*	probably null	Het
Slc23a4	T	A	6: 34,957,043	M42L	probably benign	Het
Snx25	T	A	8: 46,055,991	S373C	probably benign	Het
Sppl2a	A	T	2: 126,917,029		probably null	Het
Tpcn2	A	G	7: 145,269,749	S256P	possibly damaging	Het
Txk	C	T	5: 72,736,480		probably benign	Het
Ubr2	C	G	17: 46,957,315	W991S	possibly damaging	Het
Ufc1	A	G	1: 171,294,675	W28R	probably damaging	Het
Unc93b1	C	A	19: 3,935,297	A35E	probably benign	Het
Ush2a	A	G	1: 188,814,302	N3425S	probably benign	Het
Vmn1r32	A	G	6: 66,553,361	Y144H	probably benign	Het
Vmn1r76	A	G	7: 11,930,499	F228L	probably damaging	Het
Zfc3h1	A	G	10: 115,407,908	N715D	probably benign	Het
Zfp933	T	C	4: 147,825,868	S424G	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
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
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'- TGGCACAAGCATACTTCAATAC -3'
(R):5'- AATGCCAAGAACTCACTGGAAG -3'

Sequencing Primer
(F):5'- CCCACCATTTCACATTGATC -3'
(R):5'- ACTGGAAGAGTGACAACTATTTAAC -3'

Posted On

2018-05-04