Mutagenetix > Incidental Mutation

Incidental Mutation 'R7562:Dscc1'

585222

Institutional Source

Beutler Lab

Gene Symbol

Dscc1

Ensembl Gene

ENSMUSG00000022422

Gene Name

DNA replication and sister chromatid cohesion 1

Synonyms

2600005O03Rik, 2010006I05Rik

MMRRC Submission

045627-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7562 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54939497-54953887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54947581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 200 (Y200H)

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: Y200H

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422
AA Change: Y200H

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: Y200H

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: Y200H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 36,030,563 (GRCm39)	T544M	probably benign	Het
Adamts12	A	G	15: 11,270,697 (GRCm39)	R651G	probably benign	Het
Adck1	G	A	12: 88,335,203 (GRCm39)	D30N	possibly damaging	Het
Alcam	T	A	16: 52,089,186 (GRCm39)	I505F	probably benign	Het
Alms1	T	C	6: 85,597,394 (GRCm39)	L740P	probably damaging	Het
Ankib1	C	T	5: 3,797,021 (GRCm39)	D264N	probably null	Het
Arid2	T	G	15: 96,299,849 (GRCm39)	H1787Q	probably damaging	Het
Asf1a	C	T	10: 53,482,283 (GRCm39)	R102*	probably null	Het
Atp2b1	C	A	10: 98,858,667 (GRCm39)		probably null	Het
Bdp1	T	C	13: 100,162,049 (GRCm39)	D2291G	probably benign	Het
Bnip5	T	C	17: 29,128,778 (GRCm39)	D45G	probably benign	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Catsperg2	A	G	7: 29,397,144 (GRCm39)	F1120L	probably benign	Het
Ccdc80	C	T	16: 44,943,266 (GRCm39)	A792V	probably damaging	Het
Cdcp3	T	A	7: 130,904,426 (GRCm39)	D2381E	unknown	Het
Cenpe	C	T	3: 134,954,395 (GRCm39)	R1751W	probably damaging	Het
Cenpm	T	C	15: 82,125,562 (GRCm39)	I66V	probably benign	Het
Clcn4	A	G	7: 7,298,081 (GRCm39)	W103R	possibly damaging	Het
Cntn2	T	C	1: 132,454,055 (GRCm39)	D317G	possibly damaging	Het
Cwf19l1	G	A	19: 44,117,680 (GRCm39)	T154M	probably damaging	Het
Cyp2a4	T	A	7: 26,012,321 (GRCm39)	M368K	possibly damaging	Het
Dars1	A	G	1: 128,294,763 (GRCm39)	S413P	possibly damaging	Het
Dsn1	A	T	2: 156,842,792 (GRCm39)	D183E	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Fancc	A	T	13: 63,550,867 (GRCm39)		probably null	Het
Fbxo34	T	A	14: 47,767,135 (GRCm39)	M216K	probably benign	Het
Fer1l6	T	G	15: 58,432,331 (GRCm39)	S293A	probably benign	Het
Foxn1	T	A	11: 78,261,958 (GRCm39)	E137V	probably damaging	Het
Fshr	A	C	17: 89,295,925 (GRCm39)	F261V	probably damaging	Het
Gabrb3	C	T	7: 57,461,926 (GRCm39)	R153*	probably null	Het
Garin1b	T	C	6: 29,323,833 (GRCm39)	V186A	probably damaging	Het
Gps2	C	A	11: 69,807,308 (GRCm39)	N321K	probably benign	Het
Hdgf	T	C	3: 87,813,993 (GRCm39)	M20T	possibly damaging	Het
Igdcc4	G	T	9: 65,031,306 (GRCm39)	A415S	probably damaging	Het
Kif26b	A	G	1: 178,742,541 (GRCm39)	E879G	probably damaging	Het
Krt13	T	C	11: 100,010,162 (GRCm39)	Y273C	probably damaging	Het
Mab21l4	C	A	1: 93,087,689 (GRCm39)	V55F	probably damaging	Het
Mag	A	G	7: 30,608,559 (GRCm39)	V185A	possibly damaging	Het
Map3k21	C	T	8: 126,665,539 (GRCm39)	T576M	probably damaging	Het
Mtcl2	A	C	2: 156,895,509 (GRCm39)	L332R	probably damaging	Het
Mtrr	A	G	13: 68,714,336 (GRCm39)	F468L	probably damaging	Het
Myb	C	T	10: 21,017,653 (GRCm39)		probably null	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nckap5l	A	T	15: 99,321,166 (GRCm39)		probably null	Het
Nop9	C	T	14: 55,986,809 (GRCm39)	R240W	probably benign	Het
Notch2	T	C	3: 98,020,430 (GRCm39)	L775P	probably damaging	Het
Or13a27	T	C	7: 139,925,143 (GRCm39)	Y253C	probably damaging	Het
Or4c116	C	T	2: 88,942,629 (GRCm39)	V76I	probably benign	Het
Or55b10	T	A	7: 102,143,227 (GRCm39)	I252F	possibly damaging	Het
Or7a40	T	C	16: 16,491,579 (GRCm39)	N89D	probably benign	Het
Or8c9	A	G	9: 38,241,239 (GRCm39)	T116A	probably damaging	Het
Oxa1l	T	A	14: 54,600,934 (GRCm39)	W136R	probably damaging	Het
Palm3	T	A	8: 84,748,136 (GRCm39)	V7E	possibly damaging	Het
Pkhd1l1	C	G	15: 44,378,326 (GRCm39)	R1027G	possibly damaging	Het
Prickle2	A	T	6: 92,352,929 (GRCm39)	*902K	probably null	Het
Rassf7	C	T	7: 140,797,101 (GRCm39)	R105*	probably null	Het
Septin9	T	C	11: 117,217,337 (GRCm39)		probably null	Het
Sorbs3	T	C	14: 70,444,976 (GRCm39)	N34S	probably benign	Het
Sos2	T	C	12: 69,682,412 (GRCm39)	T269A	probably benign	Het
Spata20	T	G	11: 94,373,379 (GRCm39)	K497N	probably benign	Het
Speg	A	G	1: 75,407,923 (GRCm39)	D3206G	probably damaging	Het
Tenm4	A	G	7: 96,538,021 (GRCm39)	T1865A	probably damaging	Het
Tmc5	A	T	7: 118,222,549 (GRCm39)	Y83F	probably benign	Het
Tmem175	T	A	5: 108,789,715 (GRCm39)	D103E	probably damaging	Het
Top2b	A	C	14: 16,412,946 (GRCm38)	M952L	probably benign	Het
Vmn2r6	T	C	3: 64,463,941 (GRCm39)	I298V	probably benign	Het
Vmn2r69	T	C	7: 85,056,420 (GRCm39)	I573V	probably benign	Het
Vmn2r93	A	G	17: 18,518,731 (GRCm39)	I63M	probably benign	Het
Zfp568	G	A	7: 29,722,681 (GRCm39)	R542H	probably benign	Het

Other mutations in Dscc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01121:Dscc1	APN	15	54,945,721 (GRCm39)	splice site	probably benign
IGL01879:Dscc1	APN	15	54,950,212 (GRCm39)	missense	probably benign	0.21
BB001:Dscc1	UTSW	15	54,945,572 (GRCm39)	missense	probably benign	0.03
BB011:Dscc1	UTSW	15	54,945,572 (GRCm39)	missense	probably benign	0.03
PIT4498001:Dscc1	UTSW	15	54,945,711 (GRCm39)	missense	probably benign	0.00
PIT4812001:Dscc1	UTSW	15	54,945,657 (GRCm39)	missense	probably damaging	1.00
R0106:Dscc1	UTSW	15	54,946,966 (GRCm39)	missense	probably benign	0.10
R0106:Dscc1	UTSW	15	54,946,966 (GRCm39)	missense	probably benign	0.10
R0594:Dscc1	UTSW	15	54,952,448 (GRCm39)	missense	possibly damaging	0.69
R0616:Dscc1	UTSW	15	54,946,966 (GRCm39)	missense	probably benign	0.10
R1458:Dscc1	UTSW	15	54,950,160 (GRCm39)	missense	probably damaging	1.00
R1498:Dscc1	UTSW	15	54,943,572 (GRCm39)	splice site	probably benign
R1763:Dscc1	UTSW	15	54,943,572 (GRCm39)	splice site	probably benign
R1763:Dscc1	UTSW	15	54,947,535 (GRCm39)	missense	probably damaging	0.98
R1985:Dscc1	UTSW	15	54,943,572 (GRCm39)	splice site	probably benign
R2418:Dscc1	UTSW	15	54,946,820 (GRCm39)	nonsense	probably null
R2419:Dscc1	UTSW	15	54,946,820 (GRCm39)	nonsense	probably null
R3955:Dscc1	UTSW	15	54,946,949 (GRCm39)	missense	probably benign	0.05
R4773:Dscc1	UTSW	15	54,943,654 (GRCm39)	missense	probably benign	0.01
R5611:Dscc1	UTSW	15	54,945,569 (GRCm39)	missense	probably benign	0.23
R6484:Dscc1	UTSW	15	54,943,686 (GRCm39)	nonsense	probably null
R7662:Dscc1	UTSW	15	54,939,561 (GRCm39)	missense	possibly damaging	0.95
R7924:Dscc1	UTSW	15	54,945,572 (GRCm39)	missense	probably benign	0.03
R9263:Dscc1	UTSW	15	54,947,505 (GRCm39)	missense	probably damaging	1.00
R9665:Dscc1	UTSW	15	54,946,837 (GRCm39)	missense	unknown
R9764:Dscc1	UTSW	15	54,953,674 (GRCm39)	missense	probably benign	0.03
Z1088:Dscc1	UTSW	15	54,943,713 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CTGTCTTAAAGAAATCTGCAGAGG -3'
(R):5'- GACTTCTTTGTGCTGGGAGAAC -3'

Sequencing Primer
(F):5'- GCAAATAGCGCAAATACTCACTCTGG -3'
(R):5'- GGGAGAACTAGTTGTTTTCACATAGC -3'

Posted On

2019-10-17