Mutagenetix > Incidental Mutation

Incidental Mutation 'R6670:Cul1'

527095

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 #

R6670 (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 47517134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 460 (D460E)

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: D460E

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

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: D460E

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

noncoding transcript
Transcript: ENSMUST00000126877

Predicted Effect

probably damaging
Transcript: ENSMUST00000146200
AA Change: D460E

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

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: D460E

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

noncoding transcript
Transcript: ENSMUST00000151934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154201

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

100% (38/38)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408B17Rik	A	G	18: 34,586,266	V167A	possibly damaging	Het
Abcc2	A	G	19: 43,839,411	1544	probably benign	Het
Acsm3	T	A	7: 119,780,755		probably null	Het
AW551984	T	C	9: 39,592,996	D558G	probably damaging	Het
Bcl9l	GTGAACATGAACATGAACATGAAC	GTGAACATGAACATGAACATGAACATGAAC	9: 44,507,072		probably benign	Het
Ccdc12	T	G	9: 110,708,527		probably null	Het
Ctsl	T	C	13: 64,364,102		probably null	Het
Dnttip2	T	A	3: 122,276,221	S362T	probably damaging	Het
Fbxw16	T	A	9: 109,438,212	D317V	probably damaging	Het
Fbxw9	T	A	8: 85,062,210	N196K	possibly damaging	Het
Grap	A	G	11: 61,660,238	D32G	probably damaging	Het
Hhatl	T	C	9: 121,789,071	D206G	probably damaging	Het
Hrnr	A	T	3: 93,331,885	Q3143H	unknown	Het
Ighv1-62-1	T	C	12: 115,386,909	Y46C	probably damaging	Het
Krtap16-3	A	T	16: 88,962,652	Y58N	unknown	Het
Mef2c	A	G	13: 83,662,597	K384R	probably damaging	Het
Nalcn	A	G	14: 123,464,672	Y476H	possibly damaging	Het
Oxgr1	A	T	14: 120,022,257	N179K	probably damaging	Het
Polk	G	A	13: 96,496,630	Q302*	probably null	Het
Rab3gap1	T	A	1: 127,930,775	S540R	probably benign	Het
Samd5	A	T	10: 9,629,064		probably null	Het
Sema6d	GTGATAC	G	2: 124,654,842		probably benign	Het
Slc1a6	C	A	10: 78,787,812	A15D	probably benign	Het
Slc8a1	A	G	17: 81,649,454	C52R	probably damaging	Het
Sod2	T	A	17: 13,008,365	Y69N	possibly damaging	Het
Tank	T	C	2: 61,644,424		probably null	Het
Tbc1d23	A	T	16: 57,214,217	I73N	probably benign	Het
Tnf	A	C	17: 35,201,824	M6R	possibly damaging	Het
Trmt2a	C	T	16: 18,250,477	A16V	possibly damaging	Het
Ttn	A	G	2: 76,725,711	Y21990H	probably damaging	Het
Uaca	C	T	9: 60,872,024	S1231L	probably benign	Het
Ubr1	A	G	2: 120,924,130		probably null	Het
Unc13b	A	G	4: 43,255,562	D3849G	probably damaging	Het
Vmn2r75	T	A	7: 86,148,436	D723V	probably damaging	Het
Wnt2	C	A	6: 18,028,092	V48L	possibly 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
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'- ACTAAGTCTAGTCCAGTCAACTG -3'
(R):5'- CTGGAAAGCAGGTCTCACACTG -3'

Sequencing Primer
(F):5'- AATGGATGGCGCTATTTATTGTGAAC -3'
(R):5'- GGTCTCACACTGCACGAAC -3'

Posted On

2018-07-23