Mutagenetix > Incidental Mutation

Incidental Mutation 'R0893:Orc4'

83562

Institutional Source

Beutler Lab

Gene Symbol

Orc4

Ensembl Gene

ENSMUSG00000026761

Gene Name

origin recognition complex, subunit 4

Synonyms

Orc4, Orc4l, Orc4P, mMmORC4

MMRRC Submission

039056-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R0893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48792836-48840289 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to C at 48822622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028098] [ENSMUST00000090976] [ENSMUST00000123271] [ENSMUST00000142851] [ENSMUST00000149679]

AlphaFold

O88708

Predicted Effect

probably benign
Transcript: ENSMUST00000028098

SMART Domains

Protein: ENSMUSP00000028098
Gene: ENSMUSG00000026761

Domain	Start	End	E-Value	Type
AAA	57	199	2.75e-5	SMART
Pfam:ORC4_C	225	413	1.3e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090976

SMART Domains

Protein: ENSMUSP00000088497
Gene: ENSMUSG00000026761

Domain	Start	End	E-Value	Type
Pfam:AAA_16	34	138	3.3e-14	PFAM
Pfam:KAP_NTPase	38	123	2.9e-7	PFAM
Pfam:Arch_ATPase	43	130	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141441

Predicted Effect

probably benign
Transcript: ENSMUST00000142851

SMART Domains

Protein: ENSMUSP00000119274
Gene: ENSMUSG00000026761

Domain	Start	End	E-Value	Type
AAA	57	199	2.75e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154784

Predicted Effect

probably benign
Transcript: ENSMUST00000149679

SMART Domains

Protein: ENSMUSP00000121114
Gene: ENSMUSG00000026761

Domain	Start	End	E-Value	Type
SCOP:d1jbka_	43	73	2e-5	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

99% (77/78)

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. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,266,082 (GRCm39)		probably benign	Het
Adnp	A	T	2: 168,025,647 (GRCm39)	F549L	possibly damaging	Het
Agl	A	G	3: 116,546,935 (GRCm39)	I1305T	probably benign	Het
Aldh8a1	T	A	10: 21,267,593 (GRCm39)	M326K	probably benign	Het
Amdhd1	A	T	10: 93,363,513 (GRCm39)	M295K	probably damaging	Het
Arhgef4	T	A	1: 34,846,191 (GRCm39)	C324S	probably damaging	Het
Car8	A	T	4: 8,238,119 (GRCm39)		probably null	Het
Cc2d1a	T	C	8: 84,867,468 (GRCm39)		probably benign	Het
Cd81	G	A	7: 142,616,242 (GRCm39)	V27M	possibly damaging	Het
Ces1b	A	T	8: 93,806,056 (GRCm39)	S62T	probably benign	Het
Cfb	A	G	17: 35,077,031 (GRCm39)	S30P	probably damaging	Het
Cmtm3	A	G	8: 105,070,543 (GRCm39)	M101V	possibly damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Ddb1	C	T	19: 10,590,280 (GRCm39)	S269L	probably benign	Het
Ddx25	G	A	9: 35,465,686 (GRCm39)	Q143*	probably null	Het
Dis3l2	T	A	1: 86,971,928 (GRCm39)		probably null	Het
Dlgap4	G	T	2: 156,587,898 (GRCm39)	E598*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Elp4	C	A	2: 105,727,290 (GRCm39)		probably benign	Het
Eya3	A	G	4: 132,417,097 (GRCm39)	N194S	probably benign	Het
Golgb1	G	T	16: 36,732,639 (GRCm39)	V629L	possibly damaging	Het
Hars2	G	A	18: 36,920,648 (GRCm39)	A164T	possibly damaging	Het
Hexb	T	A	13: 97,322,135 (GRCm39)	I217L	probably benign	Het
Hgh1	A	G	15: 76,253,848 (GRCm39)		probably null	Het
Hsd3b3	A	T	3: 98,649,757 (GRCm39)		probably null	Het
Ighg2c	T	A	12: 113,251,053 (GRCm39)	N321Y	unknown	Het
Il5	A	G	11: 53,611,763 (GRCm39)	T34A	probably benign	Het
Jph1	C	A	1: 17,074,507 (GRCm39)	E504*	probably null	Het
Kif2b	G	T	11: 91,466,420 (GRCm39)	T621K	probably benign	Het
Kmt2c	A	T	5: 25,556,268 (GRCm39)		probably benign	Het
Leprotl1	A	G	8: 34,606,006 (GRCm39)		probably null	Het
Lpar3	C	T	3: 145,946,348 (GRCm39)	R9C	possibly damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Map2	C	A	1: 66,419,927 (GRCm39)	T86K	probably damaging	Het
Map7	A	G	10: 20,149,629 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,701,713 (GRCm39)	V1482A	probably benign	Het
Mks1	G	A	11: 87,747,777 (GRCm39)		probably benign	Het
Morf4l1	T	G	9: 89,984,403 (GRCm39)	K102N	probably damaging	Het
Mroh1	T	A	15: 76,293,138 (GRCm39)	V304D	possibly damaging	Het
Mtg1	G	A	7: 139,729,665 (GRCm39)	V252M	probably damaging	Het
Myh13	A	T	11: 67,225,427 (GRCm39)	D264V	probably damaging	Het
Myh2	A	G	11: 67,077,334 (GRCm39)	Y823C	possibly damaging	Het
Myoz1	A	T	14: 20,701,252 (GRCm39)	S112R	probably benign	Het
Ncapd2	A	G	6: 125,150,445 (GRCm39)	V860A	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Npffr1	T	C	10: 61,450,010 (GRCm39)	F95L	possibly damaging	Het
Or51f1e	G	T	7: 102,747,641 (GRCm39)	R231L	probably benign	Het
Or8b9	T	C	9: 37,766,492 (GRCm39)	I126T	probably damaging	Het
P3h3	A	C	6: 124,822,476 (GRCm39)	I565R	probably damaging	Het
Pak4	T	C	7: 28,259,202 (GRCm39)	D552G	probably benign	Het
Pcdhb4	G	T	18: 37,442,423 (GRCm39)		probably null	Het
Pdcd4	G	T	19: 53,917,525 (GRCm39)	R454L	probably damaging	Het
Phf8-ps	T	C	17: 33,284,263 (GRCm39)	I846M	probably benign	Het
Pkd1l2	A	G	8: 117,771,231 (GRCm39)	I1116T	probably damaging	Het
Plcb2	A	G	2: 118,555,586 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,230 (GRCm39)		probably benign	Het
Pnpla7	T	A	2: 24,887,252 (GRCm39)	I32N	probably damaging	Het
Prpf8	A	G	11: 75,384,775 (GRCm39)	K718E	probably damaging	Het
Racgap1	C	T	15: 99,524,411 (GRCm39)	A359T	probably benign	Het
Rgs3	G	A	4: 62,523,798 (GRCm39)		probably null	Het
Rhpn1	A	G	15: 75,583,503 (GRCm39)	E356G	probably damaging	Het
Rps6ka5	T	C	12: 100,540,697 (GRCm39)	H488R	possibly damaging	Het
Scn11a	A	G	9: 119,632,396 (GRCm39)		probably null	Het
Sema4f	A	T	6: 82,912,948 (GRCm39)		probably benign	Het
Serpina1f	A	G	12: 103,660,094 (GRCm39)	S63P	probably damaging	Het
Slc9a3	T	C	13: 74,307,365 (GRCm39)	W386R	probably damaging	Het
Slc9b1	A	C	3: 135,100,651 (GRCm39)	L465F	probably benign	Het
Smc5	A	G	19: 23,241,017 (GRCm39)	V165A	possibly damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tinagl1	G	T	4: 130,067,816 (GRCm39)	D59E	probably damaging	Het
Tns3	A	G	11: 8,443,302 (GRCm39)	Y354H	probably damaging	Het
Trappc9	C	T	15: 72,461,956 (GRCm39)	G1103D	probably damaging	Het
Unc79	A	T	12: 102,957,687 (GRCm39)	D34V	probably damaging	Het
Unc80	T	C	1: 66,560,645 (GRCm39)	L791P	probably damaging	Het
Unc93a2	A	G	17: 7,641,926 (GRCm39)	L174P	probably damaging	Het
Xpo7	G	T	14: 70,903,537 (GRCm39)		probably benign	Het
Zbtb1	T	A	12: 76,432,113 (GRCm39)	I33N	probably damaging	Het

Other mutations in Orc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Orc4	APN	2	48,800,281 (GRCm39)	missense	probably benign
IGL01523:Orc4	APN	2	48,807,236 (GRCm39)	missense	probably benign	0.00
IGL02546:Orc4	APN	2	48,807,296 (GRCm39)	missense	probably null	0.02
IGL02592:Orc4	APN	2	48,823,090 (GRCm39)	critical splice donor site	probably null
R0277:Orc4	UTSW	2	48,827,479 (GRCm39)	missense	possibly damaging	0.78
R0323:Orc4	UTSW	2	48,827,479 (GRCm39)	missense	possibly damaging	0.78
R0554:Orc4	UTSW	2	48,795,433 (GRCm39)	missense	probably benign	0.01
R0573:Orc4	UTSW	2	48,807,285 (GRCm39)	missense	probably benign	0.05
R0788:Orc4	UTSW	2	48,827,479 (GRCm39)	missense	possibly damaging	0.78
R1112:Orc4	UTSW	2	48,823,584 (GRCm39)	missense	probably damaging	0.97
R1466:Orc4	UTSW	2	48,799,506 (GRCm39)	missense	possibly damaging	0.91
R1466:Orc4	UTSW	2	48,799,506 (GRCm39)	missense	possibly damaging	0.91
R1584:Orc4	UTSW	2	48,799,506 (GRCm39)	missense	possibly damaging	0.91
R1868:Orc4	UTSW	2	48,800,305 (GRCm39)	missense	probably benign	0.07
R2342:Orc4	UTSW	2	48,817,152 (GRCm39)	missense	probably damaging	0.99
R2370:Orc4	UTSW	2	48,823,111 (GRCm39)	missense	probably benign	0.01
R3085:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R3086:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R3122:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R3404:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R3551:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R4199:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R4515:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R4518:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R4519:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R4521:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R4523:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R4529:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R4532:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R4533:Orc4	UTSW	2	48,827,501 (GRCm39)	missense	probably benign	0.01
R4652:Orc4	UTSW	2	48,826,762 (GRCm39)	unclassified	probably benign
R4845:Orc4	UTSW	2	48,799,478 (GRCm39)	missense	probably benign	0.07
R5893:Orc4	UTSW	2	48,795,559 (GRCm39)	nonsense	probably null
R6708:Orc4	UTSW	2	48,827,505 (GRCm39)	missense	probably benign	0.00
R6972:Orc4	UTSW	2	48,817,196 (GRCm39)	missense	probably benign	0.03
R7572:Orc4	UTSW	2	48,800,248 (GRCm39)	missense	probably benign	0.01
R7938:Orc4	UTSW	2	48,800,203 (GRCm39)	missense	possibly damaging	0.79
R9267:Orc4	UTSW	2	48,827,534 (GRCm39)	nonsense	probably null
R9463:Orc4	UTSW	2	48,826,783 (GRCm39)	critical splice donor site	probably null
R9472:Orc4	UTSW	2	48,795,563 (GRCm39)	missense	probably benign	0.03
R9480:Orc4	UTSW	2	48,795,563 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGACTTGGGAAATGTGTATCTCATCTGC -3'
(R):5'- AATTGTACTCTGTTTCAGGACTCCTGC -3'

Sequencing Primer
(F):5'- CATATGGAGTCTCGGACATGGATTAC -3'
(R):5'- AAAATGGCATCGTGGATTGACTTG -3'

Posted On

2013-11-08