Mutagenetix > Incidental Mutation

Incidental Mutation 'R3110:Orc1'

263812

Institutional Source

Beutler Lab

Gene Symbol

Orc1

Ensembl Gene

ENSMUSG00000028587

Gene Name

origin recognition complex, subunit 1

Synonyms

MmORC1, Orc1l

MMRRC Submission

040584-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108436651-108472030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108461757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 585 (C585S)

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 benign
Transcript: ENSMUST00000102744
AA Change: C585S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099805
Gene: ENSMUSG00000028587
AA Change: C585S

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: ENSMUST00000129931

Meta Mutation Damage Score

0.1044

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Acads	T	C	5: 115,255,757 (GRCm39)	H26R	probably benign	Het
Acer1	G	A	17: 57,265,406 (GRCm39)	T141I	probably damaging	Het
Adam15	C	G	3: 89,254,764 (GRCm39)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,368,331 (GRCm39)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,491,720 (GRCm39)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,694,119 (GRCm39)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,645,721 (GRCm39)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,002,831 (GRCm39)	W62*	probably null	Het
Ccdc141	C	T	2: 76,869,830 (GRCm39)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Cdc7	T	G	5: 107,122,564 (GRCm39)		probably null	Het
Cpb1	C	T	3: 20,319,521 (GRCm39)	V188M	probably damaging	Het
Dock5	A	G	14: 68,095,371 (GRCm39)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,035,953 (GRCm39)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,938,123 (GRCm39)	D90E	probably damaging	Het
Ebf1	T	A	11: 44,534,225 (GRCm39)		probably benign	Het
Fam135b	T	C	15: 71,335,879 (GRCm39)	I438M	probably benign	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gm9932	A	T	5: 100,346,794 (GRCm39)		unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,260,470 (GRCm39)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,591 (GRCm39)		probably null	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
H1f4	T	C	13: 23,805,829 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,440,038 (GRCm39)	Y32C	probably damaging	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,523,983 (GRCm39)	I367T	probably benign	Het
Itfg2	T	C	6: 128,388,632 (GRCm39)	E285G	probably damaging	Het
Itgav	T	A	2: 83,622,915 (GRCm39)	C662*	probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,075,863 (GRCm39)		probably benign	Het
Lipe	T	C	7: 25,097,848 (GRCm39)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,698,898 (GRCm39)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,582,330 (GRCm39)	D607G	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Mlc1	A	T	15: 88,850,199 (GRCm39)	D192E	probably benign	Het
Muc2	T	C	7: 141,299,225 (GRCm39)		probably benign	Het
Mybl1	T	C	1: 9,752,095 (GRCm39)	D260G	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,257,297 (GRCm39)	V305A	probably benign	Het
Nodal	G	A	10: 61,260,276 (GRCm39)	R309Q	possibly damaging	Het
Olr1	T	C	6: 129,476,881 (GRCm39)	N128S	possibly damaging	Het
Or10ak14	A	T	4: 118,611,421 (GRCm39)	F105I	probably damaging	Het
Or12j5	A	G	7: 140,083,832 (GRCm39)	I180T	probably damaging	Het
Or14a256	T	C	7: 86,264,884 (GRCm39)	Y323C	probably benign	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Phactr3	T	A	2: 177,920,810 (GRCm39)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plch1	T	A	3: 63,616,952 (GRCm39)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,054,973 (GRCm39)		probably benign	Het
Potefam1	T	G	2: 111,058,399 (GRCm39)	L131F	probably damaging	Het
Ppp1r12b	T	A	1: 134,800,570 (GRCm39)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,116,079 (GRCm39)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,757,112 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,344,369 (GRCm39)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,358,114 (GRCm39)	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scrib	A	T	15: 75,941,223 (GRCm39)	I5N	probably damaging	Het
Speg	C	T	1: 75,399,326 (GRCm39)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,212,923 (GRCm39)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Sympk	T	C	7: 18,768,409 (GRCm39)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,844,987 (GRCm39)	I6K	unknown	Het
Tas2r120	A	T	6: 132,634,731 (GRCm39)	H271L	probably damaging	Het
Tlcd3a	A	G	11: 76,093,057 (GRCm39)	D33G	probably benign	Het
Tnn	T	A	1: 159,943,856 (GRCm39)	T986S	possibly damaging	Het
Trim5	T	C	7: 103,928,845 (GRCm39)	H32R	probably damaging	Het
Ttc13	A	G	8: 125,410,573 (GRCm39)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,778,781 (GRCm39)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,268,736 (GRCm39)		probably null	Het
Wee1	T	A	7: 109,730,043 (GRCm39)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,495,771 (GRCm39)	S92P	probably damaging	Het
Zfp1004	C	G	2: 150,034,141 (GRCm39)	P185R	probably damaging	Het
Zfp786	A	G	6: 47,797,160 (GRCm39)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,723,989 (GRCm39)	I283L	possibly damaging	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
R0012:Orc1	UTSW	4	108,452,843 (GRCm39)	critical splice donor site	probably null
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
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'- TAATATCCCGCTAGGTAAAGGGA -3'
(R):5'- CTCTTGTACTCCTGGGGCA -3'

Sequencing Primer
(F):5'- TATCCCGCTAGGTAAAGGGACTAGAG -3'
(R):5'- AATGCCTGGTTCACCCTGAGTAAG -3'

Posted On

2015-02-05