Mutagenetix > Incidental Mutation

Incidental Mutation 'R9267:Orc4'

702586

Institutional Source

Beutler Lab

Gene Symbol

Orc4

Ensembl Gene

ENSMUSG00000026761

Gene Name

origin recognition complex, subunit 4

Synonyms

Orc4, Orc4l, Orc4P, mMmORC4

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R9267 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48792836-48840289 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 48827534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 20 (R20*)

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
AA Change: R20*

SMART Domains

Protein: ENSMUSP00000028098
Gene: ENSMUSG00000026761
AA Change: R20*

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 null
Transcript: ENSMUST00000090976
AA Change: R20*

SMART Domains

Protein: ENSMUSP00000088497
Gene: ENSMUSG00000026761
AA Change: R20*

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 null
Transcript: ENSMUST00000123271
AA Change: R20*

Predicted Effect

probably null
Transcript: ENSMUST00000142851
AA Change: R20*

SMART Domains

Protein: ENSMUSP00000119274
Gene: ENSMUSG00000026761
AA Change: R20*

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

Predicted Effect

probably null
Transcript: ENSMUST00000149679
AA Change: R20*

SMART Domains

Protein: ENSMUSP00000121114
Gene: ENSMUSG00000026761
AA Change: R20*

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: 98.7%

Validation Efficiency

98% (79/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,869,657 (GRCm39)		probably benign	Het
Abcd2	T	A	15: 91,063,423 (GRCm39)	T422S	possibly damaging	Het
Acsl3	T	G	1: 78,674,623 (GRCm39)	I390S	probably damaging	Het
Adad1	T	A	3: 37,139,074 (GRCm39)		probably benign	Het
Adam3	A	G	8: 25,171,605 (GRCm39)	V742A	probably benign	Het
Adgra3	A	T	5: 50,155,618 (GRCm39)	I450K	possibly damaging	Het
Adgrb2	T	C	4: 129,885,901 (GRCm39)	S14P	possibly damaging	Het
Arfgef3	T	A	10: 18,475,028 (GRCm39)	I1553F	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc27	A	G	4: 154,117,441 (GRCm39)	L502P	probably damaging	Het
Ccdc50	T	A	16: 27,208,700 (GRCm39)	L5Q		Het
Cdh16	C	T	8: 105,341,834 (GRCm39)	G777D	probably damaging	Het
Cntn2	C	A	1: 132,449,021 (GRCm39)	V663L	probably benign	Het
Cpne4	T	A	9: 104,884,833 (GRCm39)	V343E	probably damaging	Het
Dctpp1	A	T	7: 126,856,275 (GRCm39)	I149N	probably benign	Het
Dlg5	T	C	14: 24,204,745 (GRCm39)	N1266S	probably damaging	Het
Dst	A	G	1: 34,232,145 (GRCm39)	D3246G	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Erbin	T	C	13: 103,987,292 (GRCm39)	T423A	probably damaging	Het
Erich5	C	T	15: 34,471,563 (GRCm39)	P264L	possibly damaging	Het
Fam90a1a	A	G	8: 22,453,091 (GRCm39)	M149V	probably benign	Het
Fbxl18	C	T	5: 142,880,870 (GRCm39)	G62R	possibly damaging	Het
Fech	A	G	18: 64,591,267 (GRCm39)	S386P	possibly damaging	Het
Fhl3	T	A	4: 124,601,498 (GRCm39)		probably null	Het
Fkbp5	A	G	17: 28,629,558 (GRCm39)	S256P	probably benign	Het
Frem2	A	G	3: 53,564,504 (GRCm39)	M1T	probably null	Het
Galnt5	T	C	2: 57,925,220 (GRCm39)	F834L	possibly damaging	Het
Gm3618	G	T	14: 17,502,588 (GRCm39)	T99N	unknown	Het
Gm9195	T	A	14: 72,700,546 (GRCm39)	Q1127L	possibly damaging	Het
Gpsm1	A	G	2: 26,236,835 (GRCm39)	D643G	probably damaging	Het
Grm4	A	G	17: 27,654,183 (GRCm39)	V589A	possibly damaging	Het
Gskip	T	A	12: 105,665,052 (GRCm39)	F30L	probably benign	Het
Haus3	T	A	5: 34,311,452 (GRCm39)		probably null	Het
Heatr1	T	C	13: 12,421,489 (GRCm39)	F463S	probably damaging	Het
Hmcn1	G	A	1: 150,473,740 (GRCm39)	S4851F	probably benign	Het
Il16	A	C	7: 83,371,757 (GRCm39)	F16L	probably benign	Het
Itga1	C	A	13: 115,185,924 (GRCm39)	C26F	possibly damaging	Het
Itga6	A	G	2: 71,668,756 (GRCm39)	E565G	probably benign	Het
Itgb4	A	G	11: 115,870,465 (GRCm39)	H98R	probably benign	Het
Kidins220	T	A	12: 25,038,558 (GRCm39)	S37T	probably benign	Het
Lrrc37	A	T	11: 103,495,406 (GRCm39)	D2804E	unknown	Het
Lrrk2	C	T	15: 91,584,629 (GRCm39)	L349F	probably damaging	Het
Malrd1	T	G	2: 16,260,077 (GRCm39)	I2099S	unknown	Het
Mapk8ip1	A	G	2: 92,216,714 (GRCm39)	I492T	possibly damaging	Het
Mest	T	A	6: 30,742,141 (GRCm39)	D68E		Het
Mthfd1l	A	G	10: 3,934,154 (GRCm39)	D162G	probably benign	Het
Nalcn	A	T	14: 123,518,567 (GRCm39)	D1657E	probably benign	Het
Nbeal2	C	A	9: 110,462,115 (GRCm39)	V1475F	probably damaging	Het
Nf1	C	A	11: 79,331,716 (GRCm39)	Q684K	possibly damaging	Het
Opn5	T	A	17: 42,903,793 (GRCm39)	T181S	probably damaging	Het
Or10ag54	T	C	2: 87,099,326 (GRCm39)	L67P	possibly damaging	Het
Or1j19	A	T	2: 36,676,530 (GRCm39)		probably benign	Het
Or7a38	A	G	10: 78,752,803 (GRCm39)	N43S	probably damaging	Het
Or9s15	A	T	1: 92,524,994 (GRCm39)	H251L	probably damaging	Het
Or9s15	A	T	1: 92,524,996 (GRCm39)	M252L	probably benign	Het
Pik3ca	T	C	3: 32,492,211 (GRCm39)	Y270H	probably damaging	Het
Pkn2	T	C	3: 142,517,676 (GRCm39)	E474G	probably null	Het
Pnma8b	A	T	7: 16,679,159 (GRCm39)	N48Y	unknown	Het
Pnpla2	A	C	7: 141,036,503 (GRCm39)		probably benign	Het
Polr1a	G	A	6: 71,942,542 (GRCm39)	M1127I	probably benign	Het
Ptpre	A	C	7: 135,274,549 (GRCm39)	D507A	probably damaging	Het
Rab3gap2	T	C	1: 184,983,331 (GRCm39)	V490A	probably damaging	Het
Rab44	A	T	17: 29,354,338 (GRCm39)		probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Ripor1	A	G	8: 106,348,063 (GRCm39)	D1146G	unknown	Het
Sh3yl1	A	T	12: 30,972,335 (GRCm39)	I35F	possibly damaging	Het
Slc22a5	A	G	11: 53,764,619 (GRCm39)	F276L	probably benign	Het
Slc8a3	T	A	12: 81,361,208 (GRCm39)	D537V	possibly damaging	Het
Smc4	T	A	3: 68,941,786 (GRCm39)	I1263N	probably damaging	Het
Snai2	A	T	16: 14,525,120 (GRCm39)	T209S	possibly damaging	Het
Stam2	A	T	2: 52,604,903 (GRCm39)	Y211N	probably damaging	Het
Stxbp1	A	G	2: 32,708,517 (GRCm39)	S83P	probably damaging	Het
Susd4	T	C	1: 182,716,389 (GRCm39)	F325L	probably benign	Het
Tmem245	A	G	4: 56,947,236 (GRCm39)	V59A	probably benign	Het
Tnk2	A	G	16: 32,494,489 (GRCm39)	D469G	probably damaging	Het
Tpx2	A	G	2: 152,732,517 (GRCm39)	D597G	probably damaging	Het
Ube2w	A	T	1: 16,612,011 (GRCm39)	S170R		Het
Vmn2r102	A	T	17: 19,896,928 (GRCm39)	I92F	probably damaging	Het
Vmn2r11	T	A	5: 109,199,929 (GRCm39)	E508V	possibly damaging	Het
Vmn2r30	T	A	7: 7,340,432 (GRCm39)	I21F	possibly damaging	Het
Yipf2	G	A	9: 21,501,489 (GRCm39)	T187M	possibly damaging	Het
Zbtb8a	T	A	4: 129,248,267 (GRCm39)	K335*	probably null	Het
Zfp609	T	C	9: 65,608,328 (GRCm39)	D1184G	possibly 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
R0893:Orc4	UTSW	2	48,822,622 (GRCm39)	unclassified	probably benign
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
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'- ACCAGGTGTTAAGTACCAGAATTC -3'
(R):5'- AGTTCTGCCATTCACTGACG -3'

Sequencing Primer
(F):5'- ACCAGAATTCTTTCAATAATAGCAGG -3'
(R):5'- GACGTGACATCTCATTATTTACCTG -3'

Posted On

2022-03-25