Mutagenetix > Incidental Mutation

Incidental Mutation 'R9093:Cul1'

691132

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 #

R9093 (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 47518239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 518 (N518K)

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: N518K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: N518K

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 damaging
Transcript: ENSMUST00000146200
AA Change: N518K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: N518K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (76/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	G	A	9: 51,290,216	P180L	possibly damaging	Het
Abcb11	A	T	2: 69,239,169	V1294E	probably damaging	Het
Ada	C	T	2: 163,735,388	G60D	probably benign	Het
Aff3	G	T	1: 38,252,657	R390S	possibly damaging	Het
Aldh3b3	T	A	19: 3,963,959	N53K	possibly damaging	Het
Ankrd36	G	A	11: 5,639,132	M410I	probably benign	Het
Ap2b1	T	A	11: 83,324,569	I113N	probably damaging	Het
Art5	G	T	7: 102,098,189	H128N	probably benign	Het
Calhm2	A	C	19: 47,133,160	L190R	probably benign	Het
Catsperg1	G	C	7: 29,184,727	T987R	probably damaging	Het
Ccdc114	G	A	7: 45,947,541	V431I	possibly damaging	Het
Cdh18	A	T	15: 23,473,978	I645F	probably damaging	Het
Cenpe	C	T	3: 135,239,880	Q1052*	probably null	Het
Cfap221	G	T	1: 119,936,126	Q563K	probably damaging	Het
Cfap54	T	A	10: 92,815,908	E3093D	probably benign	Het
Chd4	A	G	6: 125,114,011	M1186V	probably benign	Het
Chst15	A	T	7: 132,268,917		probably null	Het
Clca2	T	C	3: 145,075,720	T688A	probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
E230025N22Rik	G	T	18: 36,688,899	L247I	possibly damaging	Het
Eno4	A	T	19: 58,953,168	K174*	probably null	Het
Enpp3	G	A	10: 24,795,804	P431S	probably benign	Het
Fam160a2	T	A	7: 105,385,392	T408S	probably damaging	Het
Fam46b	A	G	4: 133,487,041	T408A	probably damaging	Het
Fbxo18	T	A	2: 11,759,990	Q444H	probably damaging	Het
Fbxo31	G	A	8: 121,554,397	R337C	probably damaging	Het
Fbxw14	A	G	9: 109,276,182	I305T	probably benign	Het
Gas2	T	A	7: 51,953,221	C216S	probably damaging	Het
Gjb3	GCCAGATGCGCCCA	GCCAGATGCGCCCAGATGCGCCCA	4: 127,326,665		probably null	Het
Glp2r	T	A	11: 67,730,633	R344*	probably null	Het
Gm17430	A	G	18: 9,726,640	Y11H	probably damaging	Het
Gyg	T	A	3: 20,122,737	D363V	probably damaging	Het
Hectd4	A	G	5: 121,273,614	N451S	probably benign	Het
Hif1a	T	C	12: 73,932,337	Y212H	probably benign	Het
Hist2h2bb	G	A	3: 96,269,974	A75T	probably benign	Het
Hoxd11	A	T	2: 74,684,138	*337C	probably null	Het
Kif24	A	G	4: 41,428,691	F90L	probably benign	Het
Klhl20	A	T	1: 161,095,661	C497*	probably null	Het
Loxl1	C	A	9: 58,311,941	A316S	probably benign	Het
Lrig3	C	T	10: 126,010,081	P793L	possibly damaging	Het
Macc1	A	G	12: 119,446,826	D443G	probably benign	Het
Maip1	A	T	1: 57,407,152	Y127F	possibly damaging	Het
Mrm2	A	T	5: 140,328,672	F136Y	probably benign	Het
Nasp	G	T	4: 116,610,820	L323I	probably benign	Het
Ndufb8	A	T	19: 44,550,384	L166Q	probably damaging	Het
Nid2	C	T	14: 19,807,941	T1274I		Het
Nup210	T	A	6: 91,089,890	T160S	probably benign	Het
Nutm2	A	G	13: 50,474,928	K676R	probably damaging	Het
Olfr1154	A	T	2: 87,903,136	I180N	probably benign	Het
Olfr434	A	G	6: 43,217,566	T218A	probably benign	Het
Olfr504	A	T	7: 108,565,247	C183S	probably damaging	Het
Olfr519	T	C	7: 108,894,402	R7G	probably benign	Het
Olfr853	A	G	9: 19,537,618	V104A	probably benign	Het
Olfr877	A	T	9: 37,854,998	Y60F	probably damaging	Het
Olfr988	T	A	2: 85,353,508	R139S	probably benign	Het
Pcdhga12	C	A	18: 37,766,878	N254K	possibly damaging	Het
Pm20d1	G	T	1: 131,816,015	V473F	probably benign	Het
Rab11fip1	A	G	8: 27,143,327	V596A	probably damaging	Het
Rapgef6	C	T	11: 54,597,086	Q13*	probably null	Het
Rasef	T	C	4: 73,780,346	D26G	probably benign	Het
Rbfox2	A	T	15: 77,306,458	V29E	probably benign	Het
Recql4	G	A	15: 76,705,485	P787S	unknown	Het
Rnf19a	A	C	15: 36,253,304		probably benign	Het
Rnf214	A	G	9: 45,899,756	I203T	probably damaging	Het
Rnmt	A	C	18: 68,318,075	E396D	probably benign	Het
Scn4a	G	A	11: 106,319,812	S1793L	probably benign	Het
Sdcbp	G	T	4: 6,386,709		probably null	Het
Slfn3	A	G	11: 83,213,122	N273S	probably damaging	Het
Slk	A	G	19: 47,615,444	D209G		Het
Tmem135	T	A	7: 89,147,996	M351L	probably benign	Het
Tmem64	A	G	4: 15,266,391	H147R	probably benign	Het
Tnfsf4	T	C	1: 161,417,058	L106P	probably damaging	Het
Tonsl	A	T	15: 76,631,070	C1039S	probably damaging	Het
Ube4a	A	T	9: 44,953,164	F44I	possibly damaging	Het
Vmn2r40	A	G	7: 8,908,173	L707P		Het
Vmn2r87	G	A	10: 130,472,296	T691I	probably benign	Het
Wbp11	A	T	6: 136,826,046	S7T	possibly damaging	Het
Zfp386	C	A	12: 116,060,258	S532*	probably null	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
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
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'- ATTGAAGACCCAATTGTCCAAC -3'
(R):5'- GGAAACGCCTGCTTCTAAGTC -3'

Sequencing Primer
(F):5'- GACCCAATTGTCCAACTTTTAATGG -3'
(R):5'- TAAGTCTTGGAAACTCTGACCC -3'

Posted On

2021-12-30