Mutagenetix > Incidental Mutation

Incidental Mutation 'R0012:Orc1'

32537

Institutional Source

Beutler Lab

Gene Symbol

Orc1

Ensembl Gene

ENSMUSG00000028587

Gene Name

origin recognition complex, subunit 1

Synonyms

MmORC1, Orc1l

MMRRC Submission

038307-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108436651-108472030 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 108452843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102744]

AlphaFold

Q9Z1N2

PDB Structure

Structure of free mouse ORC1 BAH domain [X-RAY DIFFRACTION]
Structure of mouse ORC1 BAH domain bound to H4K20me2 [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000102744

SMART Domains

Protein: ENSMUSP00000099805
Gene: ENSMUSG00000028587

Domain	Start	End	E-Value	Type
BAH	44	170	1.88e-31	SMART
low complexity region	394	417	N/A	INTRINSIC
AAA	505	656	1e-7	SMART
Cdc6_C	757	837	5.45e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139772

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

98% (81/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	A	T	2: 130,894,840 (GRCm39)	L687Q	probably damaging	Het
Adap1	A	G	5: 139,293,489 (GRCm39)		probably benign	Het
Add2	T	A	6: 86,075,610 (GRCm39)	V253E	probably damaging	Het
Agtr1a	A	T	13: 30,565,732 (GRCm39)	I266F	probably damaging	Het
Anxa9	A	G	3: 95,215,406 (GRCm39)		probably benign	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
Bnip3	A	G	7: 138,500,401 (GRCm39)		probably benign	Het
Brwd1	A	C	16: 95,860,852 (GRCm39)	S311R	probably damaging	Het
C2cd3	G	A	7: 100,067,729 (GRCm39)	V871M	possibly damaging	Het
Cacul1	A	G	19: 60,552,691 (GRCm39)	W145R	probably damaging	Het
Celf5	C	A	10: 81,305,346 (GRCm39)	V141L	probably damaging	Het
Cfap206	C	A	4: 34,714,519 (GRCm39)	L392F	possibly damaging	Het
Chd2	G	T	7: 73,105,267 (GRCm39)	T192K	probably damaging	Het
Chrna10	T	C	7: 101,764,264 (GRCm39)	N40S	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clspn	T	A	4: 126,458,722 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col5a3	A	T	9: 20,688,404 (GRCm39)		probably benign	Het
Copb1	T	A	7: 113,836,643 (GRCm39)	K366N	probably damaging	Het
Cul9	G	A	17: 46,849,436 (GRCm39)	R570C	probably benign	Het
Cyp2c70	A	T	19: 40,175,687 (GRCm39)	L7Q	probably null	Het
Dock2	T	C	11: 34,674,622 (GRCm39)	E10G	possibly damaging	Het
Dpysl4	T	G	7: 138,677,799 (GRCm39)	I412S	probably benign	Het
Eaf2	T	A	16: 36,628,536 (GRCm39)		probably benign	Het
Fasl	T	C	1: 161,615,733 (GRCm39)	D41G	probably benign	Het
Fat2	A	G	11: 55,153,697 (GRCm39)	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,620,256 (GRCm39)	F101S	probably damaging	Het
Fdft1	T	C	14: 63,415,147 (GRCm39)	I28M	probably benign	Het
Gcnt3	T	C	9: 69,941,367 (GRCm39)	I400M	probably benign	Het
Get3	T	C	8: 85,751,725 (GRCm39)		probably benign	Het
Gpd2	T	A	2: 57,228,880 (GRCm39)	M228K	probably damaging	Het
Gsap	T	A	5: 21,431,227 (GRCm39)		probably benign	Het
Hipk1	A	G	3: 103,670,996 (GRCm39)	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,154,518 (GRCm39)	I17F	probably damaging	Het
Ints10	C	A	8: 69,260,127 (GRCm39)	L284M	probably benign	Het
Kif17	T	G	4: 138,021,059 (GRCm39)	S606A	probably damaging	Het
Lifr	C	A	15: 7,205,089 (GRCm39)	T442K	possibly damaging	Het
Lypd4	A	G	7: 24,564,757 (GRCm39)	L127P	probably damaging	Het
Lyst	A	G	13: 13,862,279 (GRCm39)	H2605R	probably benign	Het
Map3k4	A	G	17: 12,457,076 (GRCm39)	S1289P	probably damaging	Het
Mgam	T	A	6: 40,742,190 (GRCm39)		probably null	Het
Mob1b	G	A	5: 88,903,943 (GRCm39)		probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Ms4a4c	C	A	19: 11,396,344 (GRCm39)		probably benign	Het
Mthfd2l	A	T	5: 91,109,242 (GRCm39)	H224L	probably damaging	Het
Myh8	T	C	11: 67,190,847 (GRCm39)	Y1350H	probably benign	Het
Nectin2	T	C	7: 19,464,669 (GRCm39)		probably benign	Het
Nos1	A	C	5: 118,031,967 (GRCm39)	N305T	probably damaging	Het
Ogfrl1	T	A	1: 23,409,206 (GRCm39)	Q340L	possibly damaging	Het
Or2aj5	T	C	16: 19,425,190 (GRCm39)	N76S	probably benign	Het
Or4f62	A	T	2: 111,987,171 (GRCm39)	N292Y	possibly damaging	Het
Or6k14	T	G	1: 173,927,773 (GRCm39)	F250V	probably damaging	Het
Or9i1	C	A	19: 13,839,187 (GRCm39)	T10K	probably damaging	Het
Plekhg5	C	A	4: 152,189,207 (GRCm39)	D249E	probably benign	Het
Plet1	A	G	9: 50,410,430 (GRCm39)	I74V	probably benign	Het
Psmd2	T	A	16: 20,480,434 (GRCm39)	D718E	probably damaging	Het
Rab33b	G	T	3: 51,391,737 (GRCm39)		probably benign	Het
Rae1	T	A	2: 172,844,466 (GRCm39)	F4I	unknown	Het
Ralgapa2	A	G	2: 146,254,672 (GRCm39)	Y821H	probably benign	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Sharpin	G	T	15: 76,232,543 (GRCm39)	P156T	possibly damaging	Het
Slc38a4	C	T	15: 96,897,510 (GRCm39)	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,070,469 (GRCm39)	V1061A	probably benign	Het
Suclg1	A	G	6: 73,247,980 (GRCm39)	T234A	possibly damaging	Het
Swsap1	T	C	9: 21,868,318 (GRCm39)	C197R	probably benign	Het
Tbx15	A	G	3: 99,259,412 (GRCm39)	T428A	probably benign	Het
Tet2	T	C	3: 133,182,319 (GRCm39)	Y1215C	probably damaging	Het
Tjp1	A	G	7: 64,979,523 (GRCm39)		probably benign	Het
Tmem209	G	T	6: 30,502,112 (GRCm39)		probably benign	Het
Tnpo3	T	C	6: 29,589,176 (GRCm39)	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,272,283 (GRCm39)	M464K	probably damaging	Het
Ttc32	A	G	12: 9,085,897 (GRCm39)	Y148C	possibly damaging	Het
Unc80	T	C	1: 66,546,550 (GRCm39)	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,847,684 (GRCm39)		probably benign	Het
Vmn2r100	A	G	17: 19,725,136 (GRCm39)	M22V	probably benign	Het
Vmn2r100	A	T	17: 19,746,296 (GRCm39)	E485V	probably damaging	Het
Wdr24	G	A	17: 26,046,087 (GRCm39)	V471I	probably benign	Het
Zfp35	T	A	18: 24,136,001 (GRCm39)	M115K	probably benign	Het
Zfp429	G	A	13: 67,538,796 (GRCm39)	S216L	probably benign	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	probably benign	Het

Other mutations in Orc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Orc1	APN	4	108,452,522 (GRCm39)	splice site	probably benign
IGL00709:Orc1	APN	4	108,447,975 (GRCm39)	critical splice donor site	probably null
IGL01124:Orc1	APN	4	108,445,984 (GRCm39)	splice site	probably benign
IGL01514:Orc1	APN	4	108,459,249 (GRCm39)	missense	probably damaging	0.97
IGL01677:Orc1	APN	4	108,461,782 (GRCm39)	missense	probably damaging	1.00
IGL01782:Orc1	APN	4	108,463,465 (GRCm39)	missense	possibly damaging	0.78
IGL01886:Orc1	APN	4	108,461,154 (GRCm39)	splice site	probably null
IGL01912:Orc1	APN	4	108,447,941 (GRCm39)	missense	probably damaging	1.00
IGL02057:Orc1	APN	4	108,445,926 (GRCm39)	missense	possibly damaging	0.53
IGL02155:Orc1	APN	4	108,447,874 (GRCm39)	missense	probably benign	0.00
IGL02311:Orc1	APN	4	108,457,171 (GRCm39)	missense	probably benign
IGL02616:Orc1	APN	4	108,452,676 (GRCm39)	missense	probably benign	0.00
R0195:Orc1	UTSW	4	108,471,505 (GRCm39)	nonsense	probably null
R0239:Orc1	UTSW	4	108,452,843 (GRCm39)	critical splice donor site	probably null
R0239:Orc1	UTSW	4	108,452,843 (GRCm39)	critical splice donor site	probably null
R0611:Orc1	UTSW	4	108,459,229 (GRCm39)	missense	probably benign
R1351:Orc1	UTSW	4	108,452,564 (GRCm39)	missense	probably benign	0.01
R1966:Orc1	UTSW	4	108,469,414 (GRCm39)	missense	probably damaging	1.00
R2018:Orc1	UTSW	4	108,447,897 (GRCm39)	missense	possibly damaging	0.95
R2398:Orc1	UTSW	4	108,459,166 (GRCm39)	missense	possibly damaging	0.68
R3110:Orc1	UTSW	4	108,461,757 (GRCm39)	missense	probably benign	0.01
R3112:Orc1	UTSW	4	108,461,757 (GRCm39)	missense	probably benign	0.01
R3712:Orc1	UTSW	4	108,461,218 (GRCm39)	missense	probably damaging	1.00
R3716:Orc1	UTSW	4	108,471,656 (GRCm39)	missense	probably damaging	1.00
R3829:Orc1	UTSW	4	108,462,828 (GRCm39)	missense	probably damaging	1.00
R4282:Orc1	UTSW	4	108,463,471 (GRCm39)	missense	probably benign	0.18
R4320:Orc1	UTSW	4	108,445,973 (GRCm39)	missense	probably benign
R4321:Orc1	UTSW	4	108,445,973 (GRCm39)	missense	probably benign
R4322:Orc1	UTSW	4	108,445,973 (GRCm39)	missense	probably benign
R4348:Orc1	UTSW	4	108,450,649 (GRCm39)	missense	probably damaging	0.98
R4562:Orc1	UTSW	4	108,459,252 (GRCm39)	critical splice donor site	probably null
R4772:Orc1	UTSW	4	108,436,765 (GRCm39)	utr 5 prime	probably benign
R4914:Orc1	UTSW	4	108,461,755 (GRCm39)	missense	probably damaging	1.00
R4964:Orc1	UTSW	4	108,471,670 (GRCm39)	makesense	probably null
R5219:Orc1	UTSW	4	108,447,966 (GRCm39)	missense	probably damaging	1.00
R5428:Orc1	UTSW	4	108,457,137 (GRCm39)	missense	probably benign	0.00
R5655:Orc1	UTSW	4	108,450,636 (GRCm39)	missense	probably benign	0.09
R5693:Orc1	UTSW	4	108,470,276 (GRCm39)	missense	probably benign	0.01
R5936:Orc1	UTSW	4	108,459,180 (GRCm39)	missense	probably benign	0.10
R5960:Orc1	UTSW	4	108,463,495 (GRCm39)	missense	possibly damaging	0.67
R6294:Orc1	UTSW	4	108,447,867 (GRCm39)	missense	probably benign	0.01
R6504:Orc1	UTSW	4	108,447,914 (GRCm39)	missense	probably benign	0.15
R6533:Orc1	UTSW	4	108,454,644 (GRCm39)	missense	probably benign	0.05
R6775:Orc1	UTSW	4	108,460,652 (GRCm39)	missense	probably damaging	1.00
R7123:Orc1	UTSW	4	108,445,884 (GRCm39)	start codon destroyed	probably damaging	0.99
R7156:Orc1	UTSW	4	108,452,656 (GRCm39)	missense	probably benign	0.00
R7327:Orc1	UTSW	4	108,445,911 (GRCm39)	missense	probably benign	0.01
R7552:Orc1	UTSW	4	108,445,951 (GRCm39)	missense	probably benign	0.41
R7842:Orc1	UTSW	4	108,462,744 (GRCm39)	missense	probably benign	0.00
R7899:Orc1	UTSW	4	108,460,568 (GRCm39)	splice site	probably null
R8033:Orc1	UTSW	4	108,462,761 (GRCm39)	missense	probably damaging	1.00
R9442:Orc1	UTSW	4	108,469,357 (GRCm39)	missense	probably benign	0.06
R9762:Orc1	UTSW	4	108,447,874 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCCCAGAAGAAGTGATTCCTGTG -3'
(R):5'- AGCTTAAAGAGGCATCAAGTGTCAGTG -3'

Sequencing Primer
(F):5'- GAGACACTGTTTGTGAAGCTATCC -3'
(R):5'- ggataactcccaaatggatgaaac -3'

Posted On

2013-05-09