Mutagenetix > Incidental Mutation

Incidental Mutation 'R5743:Orc6'

445673

Institutional Source

Beutler Lab

Gene Symbol

Orc6

Ensembl Gene

ENSMUSG00000031697

Gene Name

origin recognition complex, subunit 6

Synonyms

6720420I10Rik, Orc6l

MMRRC Submission

043353-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86026261-86034907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86029585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 43 (Q43L)

Ref Sequence

ENSEMBL: ENSMUSP00000126925 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000034132
AA Change: Q119L

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

SMART Domains

Protein: ENSMUSP00000034132
Gene: ENSMUSG00000031697
AA Change: Q119L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170141
AA Change: Q43L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000126925
Gene: ENSMUSG00000031697
AA Change: Q43L

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 benign
Transcript: ENSMUST00000210146
AA Change: Q119L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210458

Predicted Effect

probably benign
Transcript: ENSMUST00000211597
AA Change: Q119L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211396
AA Change: Q153L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211479

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,416,536 (GRCm39)		probably benign	Het
Ankef1	A	G	2: 136,391,629 (GRCm39)		probably null	Het
Arhgap20	T	A	9: 51,728,027 (GRCm39)	M80K	probably benign	Het
Arhgap29	T	G	3: 121,775,560 (GRCm39)	L37R	probably damaging	Het
Baiap3	G	A	17: 25,463,759 (GRCm39)	P906S	probably benign	Het
Caskin2	T	A	11: 115,693,115 (GRCm39)	N603I	possibly damaging	Het
Catspere2	G	T	1: 177,950,328 (GRCm39)		silent	Het
Ccdc159	A	T	9: 21,840,686 (GRCm39)	E84D	probably benign	Het
Ccl1	T	G	11: 82,067,712 (GRCm39)	S73R	possibly damaging	Het
Cdh20	G	T	1: 110,036,575 (GRCm39)	C585F	probably damaging	Het
Cga	T	C	4: 34,904,108 (GRCm39)		probably null	Het
Coq5	A	C	5: 115,417,941 (GRCm39)	E57A	probably benign	Het
Cstf1	T	A	2: 172,219,753 (GRCm39)	L288Q	probably damaging	Het
Ctsll3	G	T	13: 60,948,815 (GRCm39)	Q47K	probably benign	Het
Dchs1	T	A	7: 105,420,803 (GRCm39)	Q539L	probably benign	Het
Fbxo46	C	A	7: 18,870,420 (GRCm39)	D346E	probably damaging	Het
Frem3	A	T	8: 81,342,407 (GRCm39)	T1567S	probably damaging	Het
Glce	T	A	9: 61,977,822 (GRCm39)	T21S	probably damaging	Het
Gm19402	C	T	10: 77,526,516 (GRCm39)	D26N	probably damaging	Het
Gm20830	A	G	Y: 6,916,664 (GRCm39)	Y152H	probably damaging	Het
Herc3	T	C	6: 58,895,784 (GRCm39)	Y1011H	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Il31ra	G	T	13: 112,664,021 (GRCm39)	T552K	possibly damaging	Het
Itga2	A	G	13: 115,021,042 (GRCm39)	V86A	probably damaging	Het
Kcnk4	A	T	19: 6,905,723 (GRCm39)	N81K	possibly damaging	Het
Lrp2	C	A	2: 69,297,221 (GRCm39)	D3247Y	probably damaging	Het
Maml3	G	T	3: 52,011,553 (GRCm39)	F4L	unknown	Het
Mcpt1	A	T	14: 56,256,072 (GRCm39)	H37L	probably benign	Het
Mpdz	T	C	4: 81,339,425 (GRCm39)	M1V	probably null	Het
Myom2	A	T	8: 15,130,914 (GRCm39)	K283N	possibly damaging	Het
Nrxn1	C	A	17: 90,950,652 (GRCm39)	R509L	probably damaging	Het
Ntng1	T	A	3: 110,042,736 (GRCm39)	Y30F	probably damaging	Het
Or52e7	A	G	7: 104,685,363 (GRCm39)		probably null	Het
Or8c13	C	A	9: 38,092,014 (GRCm39)	C35F	probably benign	Het
Or8h8	C	A	2: 86,753,549 (GRCm39)	G109V	probably benign	Het
Otogl	G	A	10: 107,692,862 (GRCm39)	S874L	possibly damaging	Het
Pcdh9	T	C	14: 94,124,160 (GRCm39)	D670G	probably damaging	Het
Pcdhga9	A	T	18: 37,871,859 (GRCm39)	I563F	probably damaging	Het
Plxna1	A	T	6: 89,333,511 (GRCm39)	S373T	probably damaging	Het
Prop1	T	C	11: 50,841,836 (GRCm39)	D190G	probably damaging	Het
Qrich1	T	A	9: 108,411,314 (GRCm39)	Y280N	probably damaging	Het
Rasl10a	T	A	11: 5,009,519 (GRCm39)	D102E	probably benign	Het
Rgs1	T	C	1: 144,121,110 (GRCm39)	Y187C	probably damaging	Het
Sema5b	T	A	16: 35,478,846 (GRCm39)	W557R	probably damaging	Het
Sh2b3	A	T	5: 121,966,520 (GRCm39)	L198H	probably damaging	Het
Slc27a3	G	T	3: 90,294,379 (GRCm39)	T429K	probably benign	Het
Slc35f1	T	G	10: 52,965,546 (GRCm39)	D320E	probably benign	Het
Smug1	C	A	15: 103,066,043 (GRCm39)		probably null	Het
Spata31f3	G	A	4: 42,873,087 (GRCm39)	T68I	probably damaging	Het
Ssrp1	T	A	2: 84,871,512 (GRCm39)	Y311*	probably null	Het
Svep1	T	C	4: 58,096,223 (GRCm39)	T1466A	possibly damaging	Het
Tmem130	A	G	5: 144,687,749 (GRCm39)	S196P	probably damaging	Het
Trim30d	A	T	7: 104,121,535 (GRCm39)	C176*	probably null	Het
Ush2a	A	G	1: 188,169,159 (GRCm39)	H1100R	probably benign	Het
Vezt	A	T	10: 93,832,957 (GRCm39)	F151L	probably benign	Het
Vps35l	A	G	7: 118,396,234 (GRCm39)	T538A	possibly damaging	Het
Zc3h3	G	T	15: 75,651,380 (GRCm39)	C638*	probably null	Het
Zfp128	C	T	7: 12,618,654 (GRCm39)	R51C	probably damaging	Het
Zfp141	T	G	7: 42,125,855 (GRCm39)	I206L	possibly damaging	Het
Zfp369	G	T	13: 65,443,494 (GRCm39)	K324N	probably benign	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
IGL02531:Orc6	APN	8	86,029,998 (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
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

Predicted Primers

PCR Primer
(F):5'- TATCACAGACTGGAGAGGTGGC -3'
(R):5'- GCTGACTGTGCTTCTAACAACG -3'

Sequencing Primer
(F):5'- ACTGGAGAGGTGGCTCAGC -3'
(R):5'- TTTTAGAGAGCACCTGGGCTCAC -3'

Posted On

2016-11-21