Mutagenetix > Incidental Mutation

Incidental Mutation 'R8146:Cul1'

632803

Institutional Source

Beutler Lab

Gene Symbol

Cul1

Ensembl Gene

ENSMUSG00000029686

Gene Name

cullin 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47453398-47526139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47495093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 56 (V56A)

Ref Sequence

ENSEMBL: ENSMUSP00000031697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031697] [ENSMUST00000146200] [ENSMUST00000146828]

AlphaFold

Q9WTX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031697
AA Change: V56A

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: V56A

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

possibly damaging
Transcript: ENSMUST00000146200
AA Change: V56A

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: V56A

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

possibly damaging
Transcript: ENSMUST00000146828
AA Change: V56A

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121608
Gene: ENSMUSG00000029686
AA Change: V56A

Domain	Start	End	E-Value	Type
Pfam:Cullin	21	110	8.8e-13	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 95.2%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	G	2: 19,494,003	E393A	possibly damaging	Het
4930550C14Rik	A	G	9: 53,422,970	D171G	probably damaging	Het
Abca13	T	C	11: 9,397,829	Y3561H	probably damaging	Het
Adgra2	T	A	8: 27,114,174	V464D	probably damaging	Het
Adgrl1	C	A	8: 83,930,989	T408N	possibly damaging	Het
Anks1b	G	A	10: 90,307,698	R523Q	probably damaging	Het
Anks6	C	A	4: 47,043,605	A375S	unknown	Het
Bbs10	T	A	10: 111,300,535	I503K	probably benign	Het
Birc2	A	G	9: 7,818,796	I598T	probably damaging	Het
Cbl	A	T	9: 44,164,874	D339E	probably damaging	Het
Cdh4	C	A	2: 179,874,078	Q350K	possibly damaging	Het
Cep78	A	G	19: 15,956,363	L617P	probably damaging	Het
Cnbd2	T	G	2: 156,328,361	V122G	probably damaging	Het
Crem	A	T	18: 3,288,007	N158K	possibly damaging	Het
Dopey2	T	A	16: 93,749,939	I277N	possibly damaging	Het
Exoc3	T	C	13: 74,192,665	D340G	probably benign	Het
Exoc6b	A	C	6: 84,908,194	D254E	probably benign	Het
Fyttd1	A	G	16: 32,902,492	K268E	probably damaging	Het
Gbp8	T	A	5: 105,030,978	N157I	probably benign	Het
Hacd1	T	A	2: 14,044,794	S118C	probably damaging	Het
Hcn4	A	C	9: 58,823,744	E78A	unknown	Het
Inpp5e	T	A	2: 26,399,262	T549S	probably benign	Het
Kcnh4	T	C	11: 100,755,279	N281S	probably damaging	Het
Kdm5b	A	G	1: 134,625,126	D1280G	probably benign	Het
Lrfn3	A	G	7: 30,359,879	V307A	probably benign	Het
Mafb	A	G	2: 160,366,378	L100P	probably damaging	Het
Med24	C	T	11: 98,718,114	G119R	probably benign	Het
Mvp	G	T	7: 126,986,999	P866Q	probably benign	Het
Olfr630	A	G	7: 103,755,303	I94T	probably damaging	Het
Phykpl	T	C	11: 51,585,581	Y43H	probably damaging	Het
Prag1	T	G	8: 36,104,210	L649R	probably damaging	Het
Ptgdr2	T	C	19: 10,940,997	F293L	probably damaging	Het
Rasip1	T	G	7: 45,630,280	S316A	possibly damaging	Het
Rlf	G	A	4: 121,147,232	S1627L	probably benign	Het
Rtl1	T	C	12: 109,590,711	R1565G	probably benign	Het
Sart3	G	A	5: 113,747,957	T572M	probably damaging	Het
Sec24b	G	T	3: 129,995,924	S816*	probably null	Het
Slamf1	C	T	1: 171,792,319	P279L	probably benign	Het
Slc18a1	C	A	8: 69,042,749	V368F	possibly damaging	Het
Tap1	A	T	17: 34,189,232	D194V	probably damaging	Het
Tuba1c	A	G	15: 99,037,615	Y319C	probably damaging	Het
Unc79	T	A	12: 103,070,157	I579N	probably damaging	Het
Zbtb22	G	T	17: 33,916,982	V34L	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
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
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'- AGAAGGAACCTGTGCCACTG -3'
(R):5'- ATGCTTATACCATCGAGACATCTTACC -3'

Sequencing Primer
(F):5'- GTGTTGGGACAGATCCTCCTCAC -3'
(R):5'- CATCGAGACATCTTACCTTAAGAAG -3'

Posted On

2020-06-30