Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Cul1'

17080

Institutional Source

Beutler Lab

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0064 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

47430516-47503078 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 47479349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122702 (fasta)

Gene Model

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

AlphaFold

Q9WTX6

Predicted Effect

probably benign
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 benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 87.7%
3x: 83.1%
10x: 65.7%
20x: 35.9%

Validation Efficiency

92% (56/61)

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	G	3: 40,888,288 (GRCm39)	I377M	probably benign	Het
Ccdc25	T	A	14: 66,091,561 (GRCm39)	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,180,907 (GRCm39)	D101G	probably benign	Het
Cep126	A	T	9: 8,130,183 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crlf3	A	G	11: 79,948,728 (GRCm39)	I239T	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fgd3	T	G	13: 49,449,901 (GRCm39)	D116A	possibly damaging	Het
Gm270	C	A	13: 49,919,367 (GRCm39)		noncoding transcript	Het
Knl1	T	A	2: 118,906,724 (GRCm39)	N1604K	probably benign	Het
Lpl	A	G	8: 69,345,356 (GRCm39)	H120R	probably damaging	Het
Myo18a	G	T	11: 77,738,170 (GRCm39)	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,781,951 (GRCm39)	T486K	possibly damaging	Het
Obscn	A	C	11: 58,918,292 (GRCm39)	V6260G	probably damaging	Het
Or10a2	T	C	7: 106,673,487 (GRCm39)	F151L	probably benign	Het
Pmpca	C	A	2: 26,285,519 (GRCm39)	D498E	probably benign	Het
Pnpla7	G	T	2: 24,887,239 (GRCm39)	E28*	probably null	Het
Polg	C	A	7: 79,111,632 (GRCm39)	W206C	probably damaging	Het
Spata31	T	C	13: 65,069,912 (GRCm39)	Y687H	probably damaging	Het
Sybu	T	A	15: 44,536,389 (GRCm39)	T646S	probably benign	Het
Tns3	G	A	11: 8,385,856 (GRCm39)	Q1381*	probably null	Het
Trank1	A	G	9: 111,172,263 (GRCm39)	D84G	probably damaging	Het
Urb1	A	G	16: 90,576,028 (GRCm39)	F843L	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	possibly damaging	Het

Other mutations in Cul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Cul1	APN	6	47,485,978 (GRCm39)	missense	probably benign
IGL02410:Cul1	APN	6	47,461,948 (GRCm39)	missense	probably damaging	1.00
IGL02458:Cul1	APN	6	47,502,542 (GRCm39)	missense	possibly damaging	0.91
IGL02490:Cul1	APN	6	47,491,820 (GRCm39)	missense	probably damaging	0.98
IGL03065:Cul1	APN	6	47,472,015 (GRCm39)	missense	probably damaging	1.00
IGL03387:Cul1	APN	6	47,478,143 (GRCm39)	missense	probably damaging	0.96
IGL02837:Cul1	UTSW	6	47,500,139 (GRCm39)	missense	probably benign	0.01
R0064:Cul1	UTSW	6	47,479,349 (GRCm39)	splice site	probably benign
R0436:Cul1	UTSW	6	47,500,707 (GRCm39)	missense	probably benign	0.16
R0746:Cul1	UTSW	6	47,495,222 (GRCm39)	splice site	probably null
R1103:Cul1	UTSW	6	47,494,111 (GRCm39)	missense	probably benign	0.03
R1471:Cul1	UTSW	6	47,491,820 (GRCm39)	missense	probably damaging	0.98
R1746:Cul1	UTSW	6	47,485,179 (GRCm39)	missense	probably damaging	0.98
R1852:Cul1	UTSW	6	47,497,764 (GRCm39)	missense	probably damaging	0.99
R1858:Cul1	UTSW	6	47,502,458 (GRCm39)	splice site	probably null
R1937:Cul1	UTSW	6	47,485,289 (GRCm39)	missense	probably benign	0.19
R1964:Cul1	UTSW	6	47,479,505 (GRCm39)	missense	probably damaging	0.98
R2985:Cul1	UTSW	6	47,479,441 (GRCm39)	missense	probably damaging	1.00
R4452:Cul1	UTSW	6	47,485,923 (GRCm39)	nonsense	probably null
R4653:Cul1	UTSW	6	47,461,897 (GRCm39)	missense	probably damaging	1.00
R4860:Cul1	UTSW	6	47,494,080 (GRCm39)	missense	probably benign	0.38
R4860:Cul1	UTSW	6	47,494,080 (GRCm39)	missense	probably benign	0.38
R4860:Cul1	UTSW	6	47,494,125 (GRCm39)	missense	probably damaging	0.99
R4860:Cul1	UTSW	6	47,494,125 (GRCm39)	missense	probably damaging	0.99
R5141:Cul1	UTSW	6	47,497,773 (GRCm39)	missense	probably benign	0.04
R5328:Cul1	UTSW	6	47,485,251 (GRCm39)	missense	probably damaging	0.99
R5399:Cul1	UTSW	6	47,462,018 (GRCm39)	splice site	probably null
R5593:Cul1	UTSW	6	47,491,925 (GRCm39)	missense	probably damaging	0.99
R5593:Cul1	UTSW	6	47,462,020 (GRCm39)	nonsense	probably null
R5616:Cul1	UTSW	6	47,500,722 (GRCm39)	missense	probably damaging	1.00
R5855:Cul1	UTSW	6	47,500,147 (GRCm39)	missense	probably benign	0.00
R6382:Cul1	UTSW	6	47,479,373 (GRCm39)	missense	probably damaging	1.00
R6670:Cul1	UTSW	6	47,494,068 (GRCm39)	missense	probably damaging	1.00
R6964:Cul1	UTSW	6	47,493,443 (GRCm39)	missense	probably benign	0.01
R8146:Cul1	UTSW	6	47,472,027 (GRCm39)	missense	possibly damaging	0.50
R8373:Cul1	UTSW	6	47,491,997 (GRCm39)	missense	possibly damaging	0.78
R8842:Cul1	UTSW	6	47,492,010 (GRCm39)	missense	probably damaging	1.00
R8899:Cul1	UTSW	6	47,474,246 (GRCm39)	missense	possibly damaging	0.84
R9093:Cul1	UTSW	6	47,495,173 (GRCm39)	missense	probably damaging	1.00
R9352:Cul1	UTSW	6	47,479,426 (GRCm39)	missense	probably benign	0.00
RF001:Cul1	UTSW	6	47,501,515 (GRCm39)	missense	possibly damaging	0.50
RF055:Cul1	UTSW	6	47,494,067 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-01-20