Mutagenetix > Incidental Mutation

Incidental Mutation 'R2985:Cul1'

257778

Institutional Source

Beutler Lab

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2985 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47430516-47503078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47479441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 236 (F236I)

Ref Sequence

ENSEMBL: ENSMUSP00000122702 (fasta)

Gene Model

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

AlphaFold

Q9WTX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031697
AA Change: F236I

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

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: F236I

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: F236I

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

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: F236I

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: 99.4%
3x: 98.7%
10x: 97.2%
20x: 94.7%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Ccdc83	A	G	7: 89,885,575 (GRCm39)		probably benign	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Etl4	T	C	2: 20,786,660 (GRCm39)	V470A	probably damaging	Het
Fndc1	T	C	17: 7,975,155 (GRCm39)	E1428G	possibly damaging	Het
Gal3st1	A	G	11: 3,948,618 (GRCm39)	Y275C	probably damaging	Het
Jakmip2	G	A	18: 43,704,246 (GRCm39)	T366I	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Obscn	A	G	11: 59,023,915 (GRCm39)	F585S	probably damaging	Het
Or8b56	G	A	9: 38,739,406 (GRCm39)	V140I	probably benign	Het
Oxld1	T	C	11: 120,347,862 (GRCm39)	T112A	probably benign	Het
Pcdha9	A	G	18: 37,131,255 (GRCm39)	N108S	possibly damaging	Het
Pkd1l2	T	C	8: 117,792,290 (GRCm39)	S501G	probably benign	Het
Pls1	G	A	9: 95,667,635 (GRCm39)	T91M	possibly damaging	Het
Prr12	G	C	7: 44,695,436 (GRCm39)	S1343R	unknown	Het
Trpm5	G	T	7: 142,636,675 (GRCm39)	L421I	probably damaging	Het
Ttn	A	T	2: 76,574,618 (GRCm39)	V25425E	probably damaging	Het
Zfp112	A	G	7: 23,821,720 (GRCm39)	D20G	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCACAAGCATACTTCAATACTAG -3'
(R):5'- AGTGACAAGCCTGACTGGTG -3'

Sequencing Primer
(F):5'- TTACAACCCACCATTTCACATTG -3'
(R):5'- CTGACTGGTGAGGAGCACTG -3'

Posted On

2015-01-11