Mutagenetix > Incidental Mutation

Incidental Mutation 'R4773:Dscc1'

367713

Institutional Source

Beutler Lab

Gene Symbol

Dscc1

Ensembl Gene

ENSMUSG00000022422

Gene Name

DNA replication and sister chromatid cohesion 1

Synonyms

2600005O03Rik, 2010006I05Rik

MMRRC Submission

042411-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4773 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55076099-55090491 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55080258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 405 (D405E)

Ref Sequence

ENSEMBL: ENSMUSP00000105860 (fasta)

Gene Model

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

AlphaFold

Q14AI0

Predicted Effect

probably benign
Transcript: ENSMUST00000023059
AA Change: D342E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422
AA Change: D342E

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 benign
Transcript: ENSMUST00000110231
AA Change: D405E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: D405E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (89/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,550,598		probably null	Het
9230009I02Rik	A	G	11: 51,091,262		noncoding transcript	Het
Actl7b	T	C	4: 56,740,972	I129V	probably benign	Het
Adipor2	A	G	6: 119,359,086	L225P	probably benign	Het
Arhgap25	A	G	6: 87,496,071	F35L	probably benign	Het
Asah2	A	T	19: 32,052,858	M138K	probably damaging	Het
Asxl1	T	A	2: 153,401,985	M1486K	probably damaging	Het
B4galt4	T	A	16: 38,752,296	S114R	probably benign	Het
Brpf3	T	G	17: 28,821,259	S885A	probably benign	Het
Cacna1g	G	T	11: 94,411,472	H1944N	possibly damaging	Het
Ccdc110	G	A	8: 45,943,208	C712Y	probably damaging	Het
Ccdc175	A	T	12: 72,136,048	I399N	probably damaging	Het
Cct8l1	A	T	5: 25,517,756	T490S	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Copa	A	G	1: 172,105,220	N371D	probably damaging	Het
Cpeb1	A	T	7: 81,355,947	H381Q	probably benign	Het
Cyp2d40	T	A	15: 82,761,562	I81F	possibly damaging	Het
Ece1	A	G	4: 137,945,153	D369G	probably benign	Het
Exd2	T	C	12: 80,475,818	V17A	possibly damaging	Het
Fam111a	A	T	19: 12,588,408	N507I	possibly damaging	Het
Flnc	T	C	6: 29,445,039	V719A	possibly damaging	Het
Fscb	C	T	12: 64,473,690	G334D	probably damaging	Het
Glud1	T	C	14: 34,321,825		probably null	Het
Gm8126	T	A	14: 43,261,615	Y180*	probably null	Het
Grip2	G	A	6: 91,782,432	P347L	possibly damaging	Het
H60b	C	T	10: 22,288,745		probably benign	Het
Hist1h1d	T	C	13: 23,555,402	S105P	probably damaging	Het
Itga6	T	C	2: 71,822,444	V217A	probably benign	Het
Kndc1	G	A	7: 139,924,031	W1083*	probably null	Het
Limch1	A	T	5: 67,027,507	D613V	probably damaging	Het
Lpl	T	A	8: 68,896,751	C310S	probably damaging	Het
March1	T	A	8: 66,387,224	C220S	probably benign	Het
Mbd5	A	C	2: 49,274,611	H308P	probably damaging	Het
Med13	T	C	11: 86,276,920	D2003G	probably damaging	Het
Mettl16	T	A	11: 74,817,301	V442D	possibly damaging	Het
Mstn	A	T	1: 53,062,108	T115S	probably benign	Het
Nfil3	A	G	13: 52,968,014	S285P	probably damaging	Het
Olfr218	A	C	1: 173,204,229	Y291S	probably damaging	Het
Olfr645	A	G	7: 104,084,295	S262P	probably damaging	Het
Otof	A	G	5: 30,394,682	V321A	probably benign	Het
Pcdha8	G	T	18: 36,994,573	A703S	probably damaging	Het
Pcdhb18	A	G	18: 37,490,454	Y279C	probably damaging	Het
Pdgfa	T	C	5: 138,993,296	D51G	probably benign	Het
Pdzd8	A	G	19: 59,300,860	Y703H	probably damaging	Het
Pecr	G	T	1: 72,267,435	P229Q	probably damaging	Het
Phkg1	G	T	5: 129,873,273		probably null	Het
Plxnb2	A	T	15: 89,166,947	H356Q	probably benign	Het
Polr1b	T	C	2: 129,105,328	I191T	probably benign	Het
Ppp4r3a	A	G	12: 101,082,767	L35P	possibly damaging	Het
Rasa2	C	T	9: 96,544,417	G792D	probably benign	Het
Rps11-ps4	T	C	12: 51,297,623		noncoding transcript	Het
Sema3g	A	G	14: 31,220,709	D89G	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slfn8	A	G	11: 83,017,393	V108A	probably damaging	Het
Smg9	T	A	7: 24,407,594	M221K	possibly damaging	Het
Soga1	G	T	2: 157,030,569	Q953K	probably benign	Het
Sos1	A	G	17: 80,398,231	S1304P	probably damaging	Het
Spert	T	A	14: 75,583,106	Y393F	probably damaging	Het
Sqle	C	A	15: 59,317,839	A110E	possibly damaging	Het
Stab2	G	A	10: 86,907,371	Q1154*	probably null	Het
Taf4b	A	G	18: 14,804,520	T217A	probably benign	Het
Tex15	T	C	8: 33,582,732	V2769A	probably benign	Het
Tmem156	A	T	5: 65,080,159	C53S	probably damaging	Het
Tmtc3	T	A	10: 100,457,139	K452N	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tph1	T	C	7: 46,656,952	E195G	probably damaging	Het
Trpc6	T	A	9: 8,609,851	Y107N	possibly damaging	Het
Tsga10	G	A	1: 37,835,525	T93I	probably damaging	Het
Ttc25	C	A	11: 100,549,916	N74K	probably benign	Het
Ttn	T	A	2: 76,741,434	N26372Y	probably damaging	Het
Tubd1	T	C	11: 86,555,302	L256P	possibly damaging	Het
Txnrd2	C	G	16: 18,440,819	A126G	probably benign	Het
Vmn1r210	T	G	13: 22,827,204	K304T	probably benign	Het
Vps25	T	C	11: 101,258,829	S160P	probably benign	Het
Vrk3	T	A	7: 44,775,476	D438E	probably benign	Het
Vwa5b1	A	G	4: 138,581,755	L708P	probably benign	Het
Washc3	C	T	10: 88,219,262	Q105*	probably null	Het
Wdr83os	T	A	8: 85,080,781		probably benign	Het
Wwc1	T	C	11: 35,867,296	H741R	probably benign	Het
Zan	T	C	5: 137,436,313		probably benign	Het
Zdhhc4	A	T	5: 143,326,176	L14I	possibly damaging	Het
Zfp568	T	A	7: 29,997,770	D38E	probably damaging	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
R2418:Dscc1	UTSW	15	55083424	nonsense	probably null
R2419:Dscc1	UTSW	15	55083424	nonsense	probably null
R3955:Dscc1	UTSW	15	55083553	missense	probably benign	0.05
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

PCR Primer
(F):5'- GCTCAGGGAACATGCAACAATG -3'
(R):5'- GCCTGTAAGCCTCTGGATAG -3'

Sequencing Primer
(F):5'- CAACAATGCCATGTTAAGGTCAG -3'
(R):5'- AAGCCTCTGGATAGACTTTCTG -3'

Posted On

2015-12-29