Mutagenetix > Incidental Mutation

Incidental Mutation 'R1103:Cul1'

98258

Institutional Source

Beutler Lab

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

MMRRC Submission

039176-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47517177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 475 (V475I)

Ref Sequence

ENSEMBL: ENSMUSP00000122702 (fasta)

Gene Model

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

AlphaFold

Q9WTX6

Predicted Effect

probably benign
Transcript: ENSMUST00000031697
AA Change: V475I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: V475I

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
AA Change: V475I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: V475I

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

Meta Mutation Damage Score

0.0800

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505	S119N	probably benign	Het
4930524J08Rik	G	A	5: 99,979,121		probably benign	Het
4932438A13Rik	A	T	3: 36,996,523	M3003L	probably benign	Het
9530053A07Rik	G	T	7: 28,154,520	L1636F	probably damaging	Het
Adam3	T	A	8: 24,714,271		probably benign	Het
Adpgk	A	G	9: 59,313,796	H295R	probably damaging	Het
Aftph	A	T	11: 20,726,547	M199K	probably benign	Het
Ap2a1	C	A	7: 44,904,169		probably benign	Het
Atpaf2	T	C	11: 60,403,950	I216V	probably benign	Het
Bag4	A	T	8: 25,767,863		probably benign	Het
Bud23	T	C	5: 135,061,139	S67G	probably damaging	Het
Cfap157	A	G	2: 32,781,398	F132S	probably damaging	Het
Cngb3	G	A	4: 19,309,658		probably null	Het
Cntnap5a	A	G	1: 116,580,669	I1304V	possibly damaging	Het
Cp	A	G	3: 19,981,985	K764E	possibly damaging	Het
Crebbp	A	G	16: 4,084,061	V2438A	probably damaging	Het
Csmd3	A	T	15: 47,948,006	W1230R	probably damaging	Het
Dnttip2	T	C	3: 122,276,422	S429P	probably benign	Het
Dtwd1	T	C	2: 126,154,723	S43P	probably damaging	Het
Ect2l	T	C	10: 18,140,526	T705A	probably damaging	Het
Erbin	G	T	13: 103,886,202	T43N	probably benign	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Gm13088	A	C	4: 143,655,372	C251W	probably damaging	Het
Gpr150	G	T	13: 76,055,593	P411Q	probably damaging	Het
Grap	C	A	11: 61,671,718	Q172K	probably benign	Het
Ido2	G	A	8: 24,576,223	T9M	probably benign	Het
Klkb1	C	A	8: 45,276,146	C347F	probably damaging	Het
Klra17	G	A	6: 129,868,843		probably benign	Het
Lama1	T	C	17: 67,790,947	L1774P	probably damaging	Het
Lhpp	A	T	7: 132,610,755	D17V	probably damaging	Het
Lrfn4	T	C	19: 4,613,271	T412A	probably benign	Het
Lrrc7	C	T	3: 158,148,706		probably benign	Het
Ltbp3	A	T	19: 5,747,411		probably null	Het
Ltbp3	G	C	19: 5,747,412		probably null	Het
Luzp1	T	A	4: 136,540,730	L88Q	possibly damaging	Het
Magi2	T	C	5: 20,611,103	I747T	probably damaging	Het
Map1b	A	T	13: 99,427,466		probably benign	Het
Map3k4	A	T	17: 12,237,063		probably null	Het
Map3k5	C	A	10: 20,023,676	D226E	probably benign	Het
Mtf1	T	A	4: 124,838,468	S440T	probably benign	Het
Myo18a	T	A	11: 77,823,330	L389Q	probably damaging	Het
Myom2	A	G	8: 15,110,827	D900G	probably benign	Het
Nfasc	T	C	1: 132,607,057		probably benign	Het
Obscn	A	T	11: 59,021,483	S7044R	probably damaging	Het
Olfr1350	T	A	7: 6,570,112	N40K	probably damaging	Het
Olfr424	T	C	1: 174,136,891	V49A	probably benign	Het
Olfr513	T	C	7: 108,754,883	V9A	possibly damaging	Het
Pde4c	T	A	8: 70,748,417	H421Q	probably damaging	Het
Pnmt	G	T	11: 98,387,676	R156L	probably benign	Het
Rnf138	A	G	18: 21,026,102	E193G	probably damaging	Het
Sesn1	G	T	10: 41,902,593	R346L	possibly damaging	Het
Setd4	G	T	16: 93,585,194	H390Q	probably benign	Het
Supt6	T	C	11: 78,225,473	E688G	possibly damaging	Het
Syne2	G	A	12: 76,109,835	D6802N	probably benign	Het
Syt16	A	G	12: 74,266,898	K533E	probably damaging	Het
Tg	A	T	15: 66,719,655	Q26H	probably benign	Het
Trim33	G	T	3: 103,310,885	W250L	probably damaging	Het
Trip4	A	G	9: 65,880,906	C86R	probably benign	Het
Upf2	T	A	2: 6,026,175	C809S	unknown	Het
Vrk2	A	G	11: 26,549,325	F76L	probably damaging	Het
Zfp804a	A	G	2: 82,257,500	T558A	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
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'- AAACCAAGCAGCTCCTGGAGGTAG -3'
(R):5'- AGCCAACAAGGCTGGATGTGTG -3'

Sequencing Primer
(F):5'- CTCCTGGAGGTAGCTAGAGAC -3'
(R):5'- GAACCCTAAACAGGGTGGC -3'

Posted On

2014-01-05