Mutagenetix > Incidental Mutation

Incidental Mutation 'R0436:Cul1'

39002

Institutional Source

Beutler Lab

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

MMRRC Submission

038637-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0436 (G1)

Quality Score

141

Status

Validated

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47523773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 702 (N702S)

Ref Sequence

ENSEMBL: ENSMUSP00000031697 (fasta)

Gene Model

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

AlphaFold

Q9WTX6

Predicted Effect

probably benign
Transcript: ENSMUST00000031697
AA Change: N702S

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: N702S

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 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154201

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,543,445		probably benign	Het
Abcb10	C	T	8: 123,971,001	G195S	probably benign	Het
Adrb2	A	G	18: 62,179,553	V67A	possibly damaging	Het
Alx4	A	T	2: 93,668,357	K145*	probably null	Het
Arl8a	G	A	1: 135,146,980	M1I	probably null	Het
B230118H07Rik	T	C	2: 101,610,519		probably benign	Het
Btbd16	G	A	7: 130,786,053	S134N	probably benign	Het
Ccdc136	T	A	6: 29,414,934	L474Q	probably damaging	Het
Cebpz	A	G	17: 78,935,650	Y192H	probably benign	Het
Cep95	A	G	11: 106,818,685	Q109R	probably null	Het
Cfap54	G	T	10: 93,038,975	Q520K	possibly damaging	Het
Cog2	C	T	8: 124,548,514		probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Dmxl2	T	C	9: 54,383,750	D2472G	probably damaging	Het
Ect2	A	G	3: 27,150,095	F22L	probably benign	Het
Ehd4	A	T	2: 120,102,341	D201E	probably damaging	Het
Eif4ebp3	A	G	18: 36,664,301		probably null	Het
Exd2	T	C	12: 80,490,770		probably benign	Het
Gtf2a1	A	C	12: 91,568,273		probably null	Het
H2-DMb1	A	G	17: 34,159,656	Y256C	probably damaging	Het
Haus6	T	C	4: 86,585,807	R527G	probably benign	Het
Helb	C	T	10: 120,094,212		probably benign	Het
Hhatl	C	T	9: 121,788,762	A254T	probably benign	Het
Hk1	A	T	10: 62,299,275		probably benign	Het
Hmcn2	A	G	2: 31,405,612	K2611R	probably damaging	Het
Hrc	A	G	7: 45,336,133	H236R	possibly damaging	Het
Hunk	T	A	16: 90,464,154	Y178N	probably damaging	Het
Jakmip2	G	A	18: 43,558,169	Q616*	probably null	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Msantd4	C	T	9: 4,385,180	R302C	probably damaging	Het
Nae1	T	C	8: 104,523,236		probably benign	Het
Nek4	C	T	14: 30,970,472	L293F	probably damaging	Het
Odf2l	C	T	3: 145,126,116	T44I	possibly damaging	Het
Olfr601	A	G	7: 103,358,741	V151A	possibly damaging	Het
Otog	G	A	7: 46,265,936		probably benign	Het
Ppp1r21	C	T	17: 88,565,689	T425I	possibly damaging	Het
Prrc2b	A	G	2: 32,230,660	E2204G	probably damaging	Het
Prrc2c	A	C	1: 162,705,314		probably benign	Het
Prrxl1	T	C	14: 32,608,083	F81S	probably damaging	Het
Ptgs2	T	C	1: 150,104,277		probably benign	Het
Slc12a8	T	A	16: 33,551,085	V197E	probably damaging	Het
Syne3	A	G	12: 104,946,924	W593R	possibly damaging	Het
Tmem63a	A	T	1: 180,972,733	T696S	probably benign	Het
Tnks2	A	G	19: 36,849,358	D165G	possibly damaging	Het
Trim43a	T	C	9: 88,588,187	W349R	probably damaging	Het
Unc45b	T	C	11: 82,929,567		probably benign	Het
Vmn1r4	T	A	6: 56,956,962	N150K	probably damaging	Het
Wdfy4	C	A	14: 33,083,812		probably benign	Het
Wdr77	T	A	3: 105,960,026	D63E	probably damaging	Het
Zan	T	C	5: 137,464,902	T672A	unknown	Het
Zdhhc17	A	T	10: 110,981,990		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
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
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'- GGTCAAGTGTCACTTCAGTCATCCC -3'
(R):5'- TGCTGGCTTCAGGCATTGTCATC -3'

Sequencing Primer
(F):5'- CCCTCTGTGGTAAAATTACATAGC -3'
(R):5'- CTTCAGGCATTGTCATCTTTGG -3'

Posted On

2013-05-23