Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02531:Orc6'

297301

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Orc6

Ensembl Gene

ENSMUSG00000031697

Gene Name

origin recognition complex, subunit 6

Synonyms

6720420I10Rik, Orc6l

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02531

Quality Score

Status

Chromosome

Chromosomal Location

86026261-86034907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86029998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 47 (S47P)

Ref Sequence

ENSEMBL: ENSMUSP00000126925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034131] [ENSMUST00000034132] [ENSMUST00000170141] [ENSMUST00000210146] [ENSMUST00000211396] [ENSMUST00000211597]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034131

SMART Domains

Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696

Domain	Start	End	E-Value	Type
Pfam:Vps35	15	753	6.8e-303	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000034132
AA Change: S123P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034132
Gene: ENSMUSG00000031697
AA Change: S123P

Domain	Start	End	E-Value	Type
Pfam:ORC6	6	108	1.5e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170141
AA Change: S47P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126925
Gene: ENSMUSG00000031697
AA Change: S47P

Domain	Start	End	E-Value	Type
PDB:3M03\|C	18	111	2e-51	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209733

Predicted Effect

probably damaging
Transcript: ENSMUST00000210146
AA Change: S123P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210458

Predicted Effect

probably damaging
Transcript: ENSMUST00000211396
AA Change: S157P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211597
AA Change: S123P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211154

Coding Region Coverage

Validation Efficiency

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 subunit 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 a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	A	6: 86,933,429 (GRCm39)	H467N	unknown	Het
Alb	A	G	5: 90,615,307 (GRCm39)	D273G	probably damaging	Het
Arap3	A	G	18: 38,122,804 (GRCm39)	S531P	probably damaging	Het
Bmpr2	T	A	1: 59,884,873 (GRCm39)		probably null	Het
Cfhr4	T	C	1: 139,702,307 (GRCm39)	K59R	probably benign	Het
Chd7	G	A	4: 8,854,134 (GRCm39)	R1902H	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2b13	A	T	7: 25,761,030 (GRCm39)	H29L	possibly damaging	Het
Enpp5	G	T	17: 44,391,843 (GRCm39)	V91F	probably damaging	Het
Fam210b	T	C	2: 172,194,675 (GRCm39)	Y176H	probably damaging	Het
Fam83b	T	C	9: 76,399,282 (GRCm39)	E607G	possibly damaging	Het
Hhla1	C	T	15: 65,839,256 (GRCm39)		probably benign	Het
Kdm3b	A	G	18: 34,928,782 (GRCm39)	T178A	probably benign	Het
Klf1	T	A	8: 85,631,437 (GRCm39)	F334I	probably damaging	Het
Klra8	A	G	6: 130,095,933 (GRCm39)	S220P	possibly damaging	Het
Medag	A	G	5: 149,345,616 (GRCm39)	N99S	probably benign	Het
Muc6	T	C	7: 141,216,853 (GRCm39)	T2607A	possibly damaging	Het
Mug2	T	G	6: 122,049,730 (GRCm39)	L921R	probably damaging	Het
Nacad	T	C	11: 6,548,580 (GRCm39)	N1385D	possibly damaging	Het
Nin	A	G	12: 70,067,706 (GRCm39)	F1983L	probably benign	Het
Nipal4	T	C	11: 46,042,152 (GRCm39)	I176M	probably damaging	Het
Ovch2	C	T	7: 107,389,405 (GRCm39)	C341Y	probably damaging	Het
Polq	T	A	16: 36,882,736 (GRCm39)	H1633Q	possibly damaging	Het
Rab23	T	C	1: 33,777,361 (GRCm39)		probably benign	Het
Rai14	A	G	15: 10,574,868 (GRCm39)	S697P	probably damaging	Het
Rnf213	T	C	11: 119,327,628 (GRCm39)	F1872L	probably benign	Het
Sdhc	T	C	1: 170,963,587 (GRCm39)	H127R	probably damaging	Het
Snx9	T	C	17: 5,942,095 (GRCm39)	V74A	probably benign	Het
Spata31d1d	A	G	13: 59,875,748 (GRCm39)	S596P	possibly damaging	Het
Syt14	T	C	1: 192,584,242 (GRCm39)	*78W	probably null	Het
Thoc1	A	G	18: 9,970,258 (GRCm39)	T203A	probably benign	Het
Trmt13	A	G	3: 116,385,840 (GRCm39)		probably null	Het
Ttc28	A	G	5: 111,373,716 (GRCm39)	I1020V	probably damaging	Het
Vmn2r16	A	G	5: 109,488,134 (GRCm39)	T336A	probably damaging	Het

Other mutations in Orc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01893:Orc6	APN	8	86,034,272 (GRCm39)	missense	probably damaging	1.00
IGL02713:Orc6	APN	8	86,034,215 (GRCm39)	missense	probably benign	0.00
IGL02997:Orc6	APN	8	86,032,837 (GRCm39)	unclassified	probably benign
R0685:Orc6	UTSW	8	86,027,783 (GRCm39)	missense	possibly damaging	0.93
R1667:Orc6	UTSW	8	86,031,914 (GRCm39)	missense	possibly damaging	0.94
R3619:Orc6	UTSW	8	86,026,623 (GRCm39)	critical splice donor site	probably null
R3810:Orc6	UTSW	8	86,026,613 (GRCm39)	missense	probably benign	0.05
R4707:Orc6	UTSW	8	86,029,579 (GRCm39)	missense	probably damaging	1.00
R4784:Orc6	UTSW	8	86,029,579 (GRCm39)	missense	probably damaging	1.00
R5743:Orc6	UTSW	8	86,029,585 (GRCm39)	missense	probably benign	0.02
R7062:Orc6	UTSW	8	86,029,537 (GRCm39)	missense	probably damaging	1.00
R7199:Orc6	UTSW	8	86,029,590 (GRCm39)	critical splice donor site	probably null
R7803:Orc6	UTSW	8	86,030,037 (GRCm39)	missense	possibly damaging	0.77
R7880:Orc6	UTSW	8	86,031,873 (GRCm39)	missense	probably benign	0.01
R9512:Orc6	UTSW	8	86,029,522 (GRCm39)	missense
R9521:Orc6	UTSW	8	86,026,615 (GRCm39)	missense	possibly damaging	0.95
R9620:Orc6	UTSW	8	86,026,430 (GRCm39)	start gained	probably benign
Y5406:Orc6	UTSW	8	86,034,302 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16