Mutagenetix > Incidental Mutation

Incidental Mutation 'R8899:Cul1'

679832

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 #

R8899 (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 47497312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 136 (I136N)

Ref Sequence

ENSEMBL: ENSMUSP00000122702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031697] [ENSMUST00000146200] [ENSMUST00000146828]

AlphaFold

Q9WTX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031697
AA Change: I136N

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: I136N

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: I136N

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: I136N

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 benign
Transcript: ENSMUST00000146828

SMART Domains

Protein: ENSMUSP00000121608
Gene: ENSMUSG00000029686

Domain	Start	End	E-Value	Type
Pfam:Cullin	21	110	8.8e-13	PFAM

Meta Mutation Damage Score

0.9588

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,988,280	I2805T	probably damaging	Het
Agxt2	A	T	15: 10,378,814	N167I	probably damaging	Het
Arel1	A	G	12: 84,934,243	I330T	probably benign	Het
Ate1	T	C	7: 130,394,659	K484E	possibly damaging	Het
Atl2	T	C	17: 79,876,040	D42G	probably benign	Het
Cd209e	C	T	8: 3,851,212	W147*	probably null	Het
Cdc40	G	A	10: 40,841,813	Q365*	probably null	Het
Cenpe	A	G	3: 135,239,883	T1053A	probably benign	Het
Colgalt1	T	C	8: 71,623,662	S586P	probably damaging	Het
Crem	A	G	18: 3,295,370	I91T	probably damaging	Het
Csrnp3	G	A	2: 66,022,643	V460I	possibly damaging	Het
Ddx19b	A	T	8: 111,011,297	I273N	probably damaging	Het
Fap	A	G	2: 62,518,473	I505T	probably damaging	Het
Fbxo44	A	T	4: 148,153,621	Y216*	probably null	Het
Fbxw10	T	A	11: 62,857,741	M398K	probably damaging	Het
Fut10	T	C	8: 31,236,486	V423A	possibly damaging	Het
Fyco1	A	C	9: 123,826,581	D1037E	probably benign	Het
Gabrg2	G	A	11: 41,976,550	R81*	probably null	Het
Gcn1l1	T	C	5: 115,579,161	V204A	probably benign	Het
Gm5615	A	T	9: 36,534,958	C53S	probably damaging	Het
Gnl1	T	C	17: 35,988,716	L593P	probably damaging	Het
Grm4	T	C	17: 27,434,780	Q732R	probably damaging	Het
Icam5	T	C	9: 21,037,119	V741A	possibly damaging	Het
Iqub	C	T	6: 24,505,769	E47K	probably benign	Het
Kcnk3	A	G	5: 30,622,236	K210R	probably benign	Het
Kdm2b	T	A	5: 122,987,788	R12*	probably null	Het
Kif1bp	T	C	10: 62,563,503		probably benign	Het
Kndc1	C	T	7: 139,927,795	S1222F	possibly damaging	Het
Lgi1	C	T	19: 38,306,090	H413Y	probably damaging	Het
Lhx8	A	G	3: 154,328,016	Y51H	probably damaging	Het
Lim2	T	C	7: 43,433,631	I80T	probably benign	Het
Macf1	A	G	4: 123,475,059	F405L	probably benign	Het
Mefv	G	A	16: 3,710,900	T559I	probably damaging	Het
Nin	A	G	12: 70,030,936	W1739R	probably damaging	Het
Olfr1101	A	G	2: 86,988,366	I270T	probably benign	Het
Olfr239	A	T	17: 33,199,744	K232M	probably damaging	Het
Olfr736	T	C	14: 50,392,812	F19L	probably damaging	Het
Olfr918	C	T	9: 38,672,851	V198I	probably damaging	Het
Otop3	T	C	11: 115,341,060		probably null	Het
Pip5kl1	A	G	2: 32,579,070	I247V	probably benign	Het
Polr2d	T	A	18: 31,789,173	M1K	probably null	Het
Prss53	T	C	7: 127,889,021	T141A	possibly damaging	Het
Rdh12	A	G	12: 79,222,028	N293S	probably benign	Het
Rnf146	G	A	10: 29,347,758	T44I	probably benign	Het
Rsbn1l	A	T	5: 20,896,867	C588S	probably damaging	Het
Sept8	G	A	11: 53,536,035	V208I	probably damaging	Het
Sgo2a	T	G	1: 58,019,663	S1134A	possibly damaging	Het
Sh3bp4	C	T	1: 89,145,575	T715I	probably benign	Het
Snrnp200	A	G	2: 127,236,597	T1758A	probably damaging	Het
Snx6	A	T	12: 54,765,638	D70E	probably benign	Het
Spag9	T	C	11: 94,092,869	S341P	probably damaging	Het
Sparcl1	T	C	5: 104,092,724	D278G	probably benign	Het
Srbd1	T	A	17: 85,985,457	S895C		Het
Stxbp5l	ATTTT	ATTTTT	16: 37,216,052		probably null	Het
Tas2r136	T	C	6: 132,777,360	D268G	probably benign	Het
Tas2r143	T	A	6: 42,400,954	Y239*	probably null	Het
Tbc1d17	C	T	7: 44,842,904	G419D	probably damaging	Het
Tff2	C	T	17: 31,143,139	W68*	probably null	Het
Thegl	T	A	5: 77,037,353		probably null	Het
Thop1	T	C	10: 81,080,606	C483R	probably damaging	Het
Tmem245	A	C	4: 56,903,916		probably null	Het
Tmem67	A	G	4: 12,055,038	F655S	probably damaging	Het
Trim36	T	G	18: 46,169,197	S583R	possibly damaging	Het
Ucp1	T	C	8: 83,290,587	V2A	probably benign	Het
Ugt1a6a	T	A	1: 88,139,081	M203K	probably damaging	Het
Usp1	A	G	4: 98,931,110	K270E	probably damaging	Het
Vps13c	T	C	9: 67,934,501	F1935S	probably damaging	Het
Zfp521	C	A	18: 13,846,080	L425F	probably damaging	Het
Zfp799	G	T	17: 32,820,374	P306Q	probably damaging	Het
Zfp831	A	T	2: 174,644,185	R218W	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
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
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'- TTGATGCAGTAGCTTTTCCAGTAAG -3'
(R):5'- ATGCAAAGCGTAATAATTGCCC -3'

Sequencing Primer
(F):5'- CAGTAGCTTTTCCAGTAAGTTTTAGC -3'
(R):5'- AGCGTAATAATTGCCCAATTAATTG -3'

Posted On

2021-08-31