Mutagenetix > Incidental Mutation

Incidental Mutation 'R5936:Orc1'

462245

Institutional Source

Beutler Lab

Gene Symbol

Orc1

Ensembl Gene

ENSMUSG00000028587

Gene Name

origin recognition complex, subunit 1

Synonyms

MmORC1, Orc1l

MMRRC Submission

044130-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5936 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108436651-108472030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108459180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 450 (T450A)

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: T450A

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099805
Gene: ENSMUSG00000028587
AA Change: T450A

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

91% (77/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,848 (GRCm39)		probably benign	Het
Acnat2	T	C	4: 49,383,362 (GRCm39)	T64A	probably benign	Het
Afap1	A	G	5: 36,131,740 (GRCm39)	N356D	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Alpk2	G	A	18: 65,483,591 (GRCm39)	T139M	probably damaging	Het
Ankrd46	T	C	15: 36,479,428 (GRCm39)	D221G	probably benign	Het
Ano6	T	A	15: 95,870,482 (GRCm39)	L900H	probably damaging	Het
Asphd2	G	A	5: 112,533,623 (GRCm39)	R343*	probably null	Het
Atosa	T	C	9: 74,916,586 (GRCm39)	L395P	probably benign	Het
Brdt	A	G	5: 107,507,261 (GRCm39)	T554A	probably damaging	Het
Cacna1d	A	G	14: 29,893,271 (GRCm39)	V401A	possibly damaging	Het
Cbs	T	C	17: 31,844,068 (GRCm39)	T188A	probably damaging	Het
Cfap54	T	A	10: 92,798,274 (GRCm39)	T1662S	probably benign	Het
Chka	A	G	19: 3,934,580 (GRCm39)	I205V	probably benign	Het
Chsy1	T	A	7: 65,822,025 (GRCm39)	N753K	possibly damaging	Het
Cpz	A	G	5: 35,659,987 (GRCm39)	S553P	probably benign	Het
Crtac1	A	G	19: 42,312,276 (GRCm39)	Y146H	probably damaging	Het
Csf1r	A	T	18: 61,258,880 (GRCm39)	I700F	probably damaging	Het
Ddx20	C	A	3: 105,587,903 (GRCm39)	E392D	possibly damaging	Het
Dhrs11	G	T	11: 84,716,350 (GRCm39)	Y67*	probably null	Het
Diaph3	G	T	14: 87,009,552 (GRCm39)	Q1076K	possibly damaging	Het
Dop1a	T	A	9: 86,418,565 (GRCm39)	L2037*	probably null	Het
Dst	G	T	1: 34,346,539 (GRCm39)	V5336L	probably damaging	Het
Etv1	C	A	12: 38,885,209 (GRCm39)	H248Q	probably damaging	Het
Fcgbp	T	C	7: 27,786,117 (GRCm39)	V518A	probably damaging	Het
Fchsd2	T	C	7: 100,840,908 (GRCm39)	L139S	probably damaging	Het
Fer	A	T	17: 64,231,058 (GRCm39)	T270S	probably benign	Het
Fgd5	A	G	6: 91,964,892 (GRCm39)	E375G	probably damaging	Het
Firrm	T	G	1: 163,814,581 (GRCm39)	I121L	probably benign	Het
Gabarapl1	T	A	6: 129,515,566 (GRCm39)	I68N	probably benign	Het
Gopc	C	T	10: 52,222,295 (GRCm39)	V30M	probably damaging	Het
Hbp1	T	C	12: 31,987,095 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,872,560 (GRCm39)	V2480A	probably damaging	Het
Igfbp3	T	A	11: 7,159,472 (GRCm39)	Y247F	probably damaging	Het
Kbtbd11	C	A	8: 15,077,534 (GRCm39)	S44R	probably benign	Het
Kcnk10	G	T	12: 98,456,191 (GRCm39)	S213R	probably benign	Het
Kcnq3	T	A	15: 65,871,959 (GRCm39)	D570V	probably damaging	Het
Kif21a	A	G	15: 90,819,850 (GRCm39)	F1594S	possibly damaging	Het
Klf3	A	G	5: 64,980,303 (GRCm39)	D31G	probably damaging	Het
Mapkapk3	T	C	9: 107,166,369 (GRCm39)	K59E	probably damaging	Het
Myo18a	A	G	11: 77,709,039 (GRCm39)	T484A	probably damaging	Het
Nlrp6	T	A	7: 140,502,725 (GRCm39)	L277*	probably null	Het
Nr5a1	G	T	2: 38,591,790 (GRCm39)		probably benign	Het
Nsmaf	C	T	4: 6,421,017 (GRCm39)		probably benign	Het
Or4f58	T	A	2: 111,851,932 (GRCm39)	H89L	probably benign	Het
Pacsin1	A	T	17: 27,923,971 (GRCm39)	I122F	probably benign	Het
Pced1b	T	A	15: 97,283,061 (GRCm39)	Y367N	possibly damaging	Het
Pced1b	T	A	15: 97,283,063 (GRCm39)	Y367*	probably null	Het
Pdpk1	A	G	17: 24,312,203 (GRCm39)	F281L	probably damaging	Het
Piwil1	T	C	5: 128,828,142 (GRCm39)	V714A	probably benign	Het
Plcd3	C	T	11: 102,969,173 (GRCm39)	V265M	probably damaging	Het
Ppp1r1c	A	T	2: 79,586,798 (GRCm39)	E48V	possibly damaging	Het
Prl2b1	T	G	13: 27,572,432 (GRCm39)	T53P	probably damaging	Het
Ptch2	T	G	4: 116,965,491 (GRCm39)	F359V	probably benign	Het
R3hdm2	G	A	10: 127,307,681 (GRCm39)	S314N	probably damaging	Het
Rictor	A	T	15: 6,813,642 (GRCm39)	S1043C	probably damaging	Het
Rtn4rl2	A	T	2: 84,710,775 (GRCm39)	L163Q	probably damaging	Het
Sarnp	T	A	10: 128,684,640 (GRCm39)	S129T	probably benign	Het
Scube3	A	T	17: 28,384,461 (GRCm39)	K585M	probably damaging	Het
Sgk3	C	T	1: 9,956,045 (GRCm39)		probably benign	Het
Skint6	C	T	4: 112,953,790 (GRCm39)	S458N	probably benign	Het
Slc25a54	A	G	3: 109,005,954 (GRCm39)	H154R	possibly damaging	Het
Sorbs1	A	C	19: 40,313,216 (GRCm39)	I690S	probably damaging	Het
Sqle	C	A	15: 59,202,678 (GRCm39)	A512D	probably damaging	Het
Tedc2	A	C	17: 24,435,315 (GRCm39)	L358R	probably damaging	Het
Tfr2	A	G	5: 137,585,268 (GRCm39)	S767G	probably benign	Het
Thoc5	A	G	11: 4,854,133 (GRCm39)	E27G	probably damaging	Het
Trappc8	A	T	18: 21,007,745 (GRCm39)	F123L	probably damaging	Het
Ube3d	C	T	9: 86,254,512 (GRCm39)	G323D	probably benign	Het
Unc13c	T	A	9: 73,485,774 (GRCm39)	H1642L	probably damaging	Het
Vmn1r10	A	T	6: 57,091,302 (GRCm39)	H298L	probably benign	Het
Xpo4	A	T	14: 57,880,956 (GRCm39)	Y26N	probably benign	Het
Zer1	A	G	2: 29,997,679 (GRCm39)	L409P	probably damaging	Het
Zfyve28	A	T	5: 34,382,332 (GRCm39)	L256Q	probably damaging	Het
Zgrf1	A	G	3: 127,355,902 (GRCm39)	E376G	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
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
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'- AACATGTTTGATGTGAGCGG -3'
(R):5'- CTCTTTCCTCATGAGAAAGCTTTCAG -3'

Sequencing Primer
(F):5'- TGATGTGAGCGGGTAGGGATAG -3'
(R):5'- GACTTTAATCTGACAAGCTGACTCC -3'

Posted On

2017-02-28