Mutagenetix > Incidental Mutation

Incidental Mutation 'R2418:Dscc1'

476201

Institutional Source

Beutler Lab

Gene Symbol

Dscc1

Ensembl Gene

ENSMUSG00000022422

Gene Name

DNA replication and sister chromatid cohesion 1

Synonyms

2600005O03Rik, 2010006I05Rik

MMRRC Submission

040380-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R2418 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55076099-55090491 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 55083424 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 302 (R302*)

Ref Sequence

ENSEMBL: ENSMUSP00000105860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023059] [ENSMUST00000110231]

AlphaFold

Q14AI0

Predicted Effect

probably benign
Transcript: ENSMUST00000023059

SMART Domains

Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC
Pfam:DUF2036	48	364	7.3e-110	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110231
AA Change: R302*

SMART Domains

Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: R302*

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC
Pfam:DUF2036	49	271	5.9e-62	PFAM
Pfam:DUF2036	284	426	4.3e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228250

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,437,989	A768T	probably benign	Het
Acox3	A	G	5: 35,604,638	N442S	probably benign	Het
Acp5	C	A	9: 22,129,952	V60L	probably benign	Het
Arap3	T	C	18: 37,989,944	D501G	probably damaging	Het
Bcorl1	A	G	X: 48,370,541	T425A	probably damaging	Het
Btd	G	A	14: 31,641,136		probably null	Het
Cfap74	T	A	4: 155,455,709		probably benign	Het
Cnot8	G	A	11: 58,115,310	G222R	probably damaging	Het
Col4a4	G	T	1: 82,532,936	A205E	unknown	Het
Cwf19l1	T	C	19: 44,131,472	T77A	probably benign	Het
Cyp2b9	A	G	7: 26,186,707	T100A	probably benign	Het
Ddx24	A	G	12: 103,417,737	L485P	probably damaging	Het
Dnah9	A	T	11: 66,095,415	L1131*	probably null	Het
Dnase1l3	T	A	14: 7,968,089	E272V	possibly damaging	Het
Elk3	T	C	10: 93,284,827	N50S	probably damaging	Het
Fmo3	A	T	1: 162,966,958	I181K	probably benign	Het
Golga3	T	C	5: 110,201,868	I655T	probably damaging	Het
Hspa1l	A	T	17: 34,977,188	T68S	probably benign	Het
Itgax	C	T	7: 128,142,333	R839W	probably damaging	Het
Itk	A	G	11: 46,338,217	F379L	probably damaging	Het
Kif7	C	A	7: 79,698,693	R1300L	probably benign	Het
Klkb1	A	T	8: 45,289,112	D43E	possibly damaging	Het
Kmt5b	C	T	19: 3,807,266	A318V	probably benign	Het
Krt78	T	C	15: 101,946,634	Y914C	probably benign	Het
Lactb2	T	C	1: 13,660,339	T38A	possibly damaging	Het
Lmbr1l	A	C	15: 98,907,537	F361C	possibly damaging	Het
Magi1	T	C	6: 93,745,910	D329G	probably damaging	Het
Map3k5	T	A	10: 20,110,857	V939E	probably benign	Het
Mcm8	C	T	2: 132,824,738	A233V	probably benign	Het
Mcur1	C	T	13: 43,549,537	V241M	possibly damaging	Het
Mical2	G	T	7: 112,320,734		probably null	Het
Nudt13	A	G	14: 20,311,513	E219G	probably damaging	Het
Olfr1212	A	G	2: 88,959,036	N190S	probably benign	Het
Olfr449	A	G	6: 42,838,049	H56R	probably benign	Het
Olfr653	A	T	7: 104,579,934	H96L	probably benign	Het
Osbpl7	A	C	11: 97,059,178	D395A	probably benign	Het
Osbpl9	A	G	4: 109,066,218	C495R	probably damaging	Het
Pcdhac1	T	C	18: 37,091,328	L398P	probably benign	Het
Pcnx4	T	A	12: 72,556,263	F433Y	probably damaging	Het
Pdp1	G	A	4: 11,961,838	P158S	probably damaging	Het
Pkd1l3	A	C	8: 109,670,721	*2152C	probably null	Het
Plcxd3	G	T	15: 4,574,763	K284N	probably benign	Het
Plxnb2	A	G	15: 89,161,069	V1058A	possibly damaging	Het
Ptbp1	T	C	10: 79,859,677	Y187H	probably damaging	Het
Resp18	T	C	1: 75,272,311	*176W	probably null	Het
Rps6ka2	A	C	17: 7,299,339	Q665H	possibly damaging	Het
Rtn1	T	C	12: 72,304,278	T386A	probably benign	Het
Samt2	A	T	X: 154,575,227		probably null	Het
Scn1a	T	C	2: 66,273,843	N1663S	probably damaging	Het
Smyd1	A	T	6: 71,239,553	I70N	probably damaging	Het
Tas2r105	T	C	6: 131,687,447	E6G	probably damaging	Het
Tchh	G	T	3: 93,445,629	R792L	unknown	Het
Tenm3	C	T	8: 48,276,658	D1438N	possibly damaging	Het
Tmem184b	A	G	15: 79,365,943	Y211H	possibly damaging	Het
Top3a	C	A	11: 60,748,016	G551V	possibly damaging	Het
Vmn1r168	A	T	7: 23,541,399	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,524,834	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,556,250	L17R	probably damaging	Het
Wdr66	A	C	5: 123,254,268		probably benign	Het

Other mutations in Dscc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01121:Dscc1	APN	15	55082325	splice site	probably benign
IGL01879:Dscc1	APN	15	55086816	missense	probably benign	0.21
BB001:Dscc1	UTSW	15	55082176	missense	probably benign	0.03
BB011:Dscc1	UTSW	15	55082176	missense	probably benign	0.03
PIT4498001:Dscc1	UTSW	15	55082315	missense	probably benign	0.00
PIT4812001:Dscc1	UTSW	15	55082261	missense	probably damaging	1.00
R0106:Dscc1	UTSW	15	55083570	missense	probably benign	0.10
R0106:Dscc1	UTSW	15	55083570	missense	probably benign	0.10
R0594:Dscc1	UTSW	15	55089052	missense	possibly damaging	0.69
R0616:Dscc1	UTSW	15	55083570	missense	probably benign	0.10
R1458:Dscc1	UTSW	15	55086764	missense	probably damaging	1.00
R1498:Dscc1	UTSW	15	55080176	splice site	probably benign
R1763:Dscc1	UTSW	15	55080176	splice site	probably benign
R1763:Dscc1	UTSW	15	55084139	missense	probably damaging	0.98
R1985:Dscc1	UTSW	15	55080176	splice site	probably benign
R2419:Dscc1	UTSW	15	55083424	nonsense	probably null
R3955:Dscc1	UTSW	15	55083553	missense	probably benign	0.05
R4773:Dscc1	UTSW	15	55080258	missense	probably benign	0.01
R5611:Dscc1	UTSW	15	55082173	missense	probably benign	0.23
R6484:Dscc1	UTSW	15	55080290	nonsense	probably null
R7562:Dscc1	UTSW	15	55084185	missense	probably benign	0.15
R7662:Dscc1	UTSW	15	55076165	missense	possibly damaging	0.95
R7924:Dscc1	UTSW	15	55082176	missense	probably benign	0.03
R9263:Dscc1	UTSW	15	55084109	missense	probably damaging	1.00
R9665:Dscc1	UTSW	15	55083441	missense	unknown
R9764:Dscc1	UTSW	15	55090278	missense	probably benign	0.03
Z1088:Dscc1	UTSW	15	55080317	missense	possibly damaging	0.70

Predicted Primers

Posted On

2017-05-11