Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Cul1'

602497

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 #

RF001 (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 47524581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 734 (V734A)

Ref Sequence

ENSEMBL: ENSMUSP00000031697 (fasta)

Gene Model

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

AlphaFold

Q9WTX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031697
AA Change: V734A

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: V734A

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 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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,913,590		probably benign	Het
Acer1	A	G	17: 56,958,909	V122A	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,921		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,643,571		probably benign	Het
Atp13a1	C	A	8: 69,800,070	A680D	probably damaging	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,512,903		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,512,906		probably benign	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,512,927		probably benign	Het
Cad	GT	G	5: 31,060,212		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,141,276		probably benign	Het
Casz1	CACA	C	4: 148,952,304		probably benign	Het
Cherp	GACCTGGA	G	8: 72,462,049		probably null	Het
Chga	AGC	AGCTGC	12: 102,561,423		probably benign	Het
Coq7	A	G	7: 118,533,182	S24P	probably benign	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 87,040,416		probably benign	Het
Dgkz	A	T	2: 91,939,941	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,812,886		probably benign	Het
Fat1	T	G	8: 44,988,966	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 75,000,018		probably benign	Het
Gm14412	T	C	2: 177,317,101	I52V	probably benign	Het
Gm5346	T	G	8: 43,626,905	D94A	possibly damaging	Het
Gm5414	T	C	15: 101,627,953	E79G	probably benign	Het
Gpc5	G	A	14: 115,417,178	S470N	probably benign	Het
Grin2b	A	G	6: 136,044,240	V21A	probably benign	Het
Hecw1	C	A	13: 14,297,424	C553F	probably damaging	Het
Hsd3b6	T	A	3: 98,806,440	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,125,762		probably benign	Het
Inpp5f	G	A	7: 128,695,083	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,311,697	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,110,432	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,586,382		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,315,775		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,042,280		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,042,282		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,042,255		probably benign	Het
Lama1	A	G	17: 67,752,902	D662G		Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 93,018,269		probably benign	Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 93,018,152		probably benign	Het
Lmo4	A	C	3: 144,201,862	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,736,633	I952T	probably benign	Het
Lyst	T	C	13: 13,635,841	F699L	probably benign	Het
Matn3	T	A	12: 8,958,797	D303E	probably benign	Het
Me1	A	G	9: 86,582,823	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,300,299	V68E	probably benign	Het
Mptx2	T	C	1: 173,274,969	N51S	probably benign	Het
Mylk	A	G	16: 34,879,371	D368G	probably benign	Het
Myom2	T	C	8: 15,081,418	V372A	possibly damaging	Het
Neb	T	C	2: 52,195,421	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,030		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,110,235		probably benign	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 156,096,075		probably benign	Het
Sertad4	T	C	1: 192,847,178	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,785,314		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,631,021		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,630,986		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,727,662		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,835,739		probably benign	Het
Tecpr1	A	G	5: 144,217,386	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,967,027		probably benign	Het
Vmn1r48	A	T	6: 90,036,204	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,429,687		probably benign	Het
Zscan29	T	C	2: 121,163,996	N503D	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
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
RF055:Cul1	UTSW	6	47517133	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTACCCTAGCATGGAAGTTG -3'
(R):5'- CTGTGACGTACTCCTCATCAG -3'

Sequencing Primer
(F):5'- TACCCTAGCATGGAAGTTGAGTATG -3'
(R):5'- GTGACGTACTCCTCATCAGAATATC -3'

Posted On

2019-12-04