Mutagenetix > Incidental Mutation

Incidental Mutation 'R9463:Orc4'

714982

Institutional Source

Beutler Lab

Gene Symbol

Orc4

Ensembl Gene

ENSMUSG00000026761

Gene Name

origin recognition complex, subunit 4

Synonyms

mMmORC4, Orc4, Orc4l, Orc4P

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R9463 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48902824-48950277 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 48936771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028098 (fasta)

Gene Model

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

AlphaFold

O88708

Predicted Effect

probably null
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

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

probably benign
Transcript: ENSMUST00000149679

SMART Domains

Protein: ENSMUSP00000121114
Gene: ENSMUSG00000026761

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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. 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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	C	T	14: 8,256,789	E25K	probably damaging	Het
Acss2	A	G	2: 155,550,112	Y218C	probably benign	Het
Armc8	C	T	9: 99,496,150		probably null	Het
Aspg	G	A	12: 112,123,390	G454D	probably damaging	Het
Atp9b	T	C	18: 80,765,836	T623A		Het
BC055324	A	T	1: 163,968,338	M428K	probably benign	Het
Cacna1e	A	G	1: 154,481,665	L655P	probably damaging	Het
Cant1	T	A	11: 118,411,455	N12I	probably damaging	Het
Cep63	T	C	9: 102,598,183	T445A	probably benign	Het
Clstn1	A	T	4: 149,614,107	D50V	possibly damaging	Het
Cnnm2	T	A	19: 46,762,551	I260N	probably damaging	Het
Col4a4	T	C	1: 82,453,355	M1609V	unknown	Het
Dand5	A	T	8: 84,816,309	C179*	probably null	Het
Dbndd1	A	G	8: 123,506,808	L153P	probably damaging	Het
Dnhd1	A	G	7: 105,657,247	I437V	probably benign	Het
Dnhd1	T	A	7: 105,695,016	S1856T	probably benign	Het
Dpp8	T	A	9: 65,066,418	Y641*	probably null	Het
Dthd1	G	A	5: 62,882,283	R676H	probably benign	Het
Efl1	C	T	7: 82,777,525	T1077M	probably damaging	Het
Eif3e	G	T	15: 43,275,313	Q83K	probably benign	Het
Gfm2	G	A	13: 97,150,402	A170T	probably damaging	Het
Gm14496	T	A	2: 182,000,463	H642Q	probably benign	Het
Gmip	G	A	8: 69,817,043	R596Q	possibly damaging	Het
Hook1	A	T	4: 96,022,273	Q708L	probably damaging	Het
Krtap9-3	G	A	11: 99,597,700	R119C	unknown	Het
Lnpk	A	C	2: 74,551,059		probably null	Het
Lrp1	G	T	10: 127,593,465	Y484*	probably null	Het
Lrrc8e	C	T	8: 4,235,185	P470L	probably damaging	Het
Mapre1	A	G	2: 153,765,040	N231D	probably benign	Het
Muc5b	T	A	7: 141,851,766	N937K	unknown	Het
Ndufaf7	T	C	17: 78,946,471		probably null	Het
Nlrp5	A	T	7: 23,418,800	I650F	probably benign	Het
Notch1	T	C	2: 26,469,833	D1290G	probably benign	Het
Olfr845	C	T	9: 19,339,024	A188V	possibly damaging	Het
Olfr910	T	C	9: 38,539,369	I158T	probably damaging	Het
Plekhm2	A	G	4: 141,630,638	V664A	probably benign	Het
Pom121l2	T	G	13: 21,984,232	I891S	probably benign	Het
Prkcsh	T	C	9: 22,012,686	Y425H	probably damaging	Het
Prps1l1	A	C	12: 34,985,560	T225P	probably damaging	Het
Prr18	T	G	17: 8,341,492	V160G	probably damaging	Het
Psd2	T	A	18: 36,010,745	F701L	probably damaging	Het
Sclt1	T	C	3: 41,647,496	E593G	probably damaging	Het
Sdk1	T	C	5: 141,962,793	I631T	probably benign	Het
Sirt1	A	T	10: 63,335,708	D231E	probably benign	Het
Slc22a30	C	T	19: 8,400,895	C139Y	probably damaging	Het
Sntg1	T	A	1: 8,554,750	N274I	probably damaging	Het
Spocd1	A	G	4: 129,953,605	Q529R		Het
Trbv3	T	A	6: 41,048,596	L40H	probably damaging	Het
Trpm6	T	C	19: 18,783,900		probably null	Het
Ttn	A	G	2: 76,748,175	Y24125H	probably damaging	Het
Tusc5	T	A	11: 76,680,272	L38Q	probably damaging	Het
Ush1g	C	A	11: 115,318,230	L379F	probably damaging	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Vmn2r73	A	T	7: 85,857,587	M839K		Het
Wee1	T	C	7: 110,122,710	S121P	probably damaging	Het
Zfp608	T	C	18: 54,897,202	K1222R	probably damaging	Het

Other mutations in Orc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Orc4	APN	2	48910269	missense	probably benign
IGL01523:Orc4	APN	2	48917224	missense	probably benign	0.00
IGL02546:Orc4	APN	2	48917284	missense	probably null	0.02
IGL02592:Orc4	APN	2	48933078	critical splice donor site	probably null
R0277:Orc4	UTSW	2	48937467	missense	possibly damaging	0.78
R0323:Orc4	UTSW	2	48937467	missense	possibly damaging	0.78
R0554:Orc4	UTSW	2	48905421	missense	probably benign	0.01
R0573:Orc4	UTSW	2	48917273	missense	probably benign	0.05
R0788:Orc4	UTSW	2	48937467	missense	possibly damaging	0.78
R0893:Orc4	UTSW	2	48932610	unclassified	probably benign
R1112:Orc4	UTSW	2	48933572	missense	probably damaging	0.97
R1466:Orc4	UTSW	2	48909494	missense	possibly damaging	0.91
R1466:Orc4	UTSW	2	48909494	missense	possibly damaging	0.91
R1584:Orc4	UTSW	2	48909494	missense	possibly damaging	0.91
R1868:Orc4	UTSW	2	48910293	missense	probably benign	0.07
R2342:Orc4	UTSW	2	48927140	missense	probably damaging	0.99
R2370:Orc4	UTSW	2	48933099	missense	probably benign	0.01
R3085:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R3086:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R3122:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R3404:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R3551:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4199:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4515:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4518:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4519:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4521:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4523:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4529:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4532:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4533:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4652:Orc4	UTSW	2	48936750	unclassified	probably benign
R4845:Orc4	UTSW	2	48909466	missense	probably benign	0.07
R5893:Orc4	UTSW	2	48905547	nonsense	probably null
R6708:Orc4	UTSW	2	48937493	missense	probably benign	0.00
R6972:Orc4	UTSW	2	48927184	missense	probably benign	0.03
R7572:Orc4	UTSW	2	48910236	missense	probably benign	0.01
R7938:Orc4	UTSW	2	48910191	missense	possibly damaging	0.79
R9267:Orc4	UTSW	2	48937522	nonsense	probably null
R9472:Orc4	UTSW	2	48905551	missense	probably benign	0.03
R9480:Orc4	UTSW	2	48905551	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GAAATCCCTGCCCCAGTATAGG -3'
(R):5'- ATTTAGATCCTTTGGGCTAGAGAG -3'

Sequencing Primer
(F):5'- CCAGTATAGGGCAATATACCAAGCAG -3'
(R):5'- GAGCTACTCAAAAGAACTGC -3'

Posted On

2022-06-15