Mutagenetix > Incidental Mutation

Incidental Mutation 'R5611:Dscc1'

438046

Institutional Source

Beutler Lab

Gene Symbol

Dscc1

Ensembl Gene

ENSMUSG00000022422

Gene Name

DNA replication and sister chromatid cohesion 1

Synonyms

2600005O03Rik, 2010006I05Rik

MMRRC Submission

043273-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R5611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54939497-54953887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54945569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 312 (Q312H)

Ref Sequence

ENSEMBL: ENSMUSP00000023059 (fasta)

Gene Model

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

AlphaFold

Q14AI0

Predicted Effect

probably benign
Transcript: ENSMUST00000023059
AA Change: Q312H

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

SMART Domains

Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422
AA Change: Q312H

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: Q375H

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: Q375H

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: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	C	11: 48,910,828 (GRCm39)	T535R	possibly damaging	Het
Adam34	A	T	8: 44,104,749 (GRCm39)	F299I	probably benign	Het
Adamts20	A	G	15: 94,171,161 (GRCm39)	M1854T	possibly damaging	Het
Adrm1b	G	A	3: 92,335,758 (GRCm39)	P315S	probably damaging	Het
Apbb1	A	G	7: 105,208,690 (GRCm39)	V581A	probably damaging	Het
Apol6	T	A	15: 76,935,240 (GRCm39)		probably null	Het
Arhgef37	T	C	18: 61,640,334 (GRCm39)	T242A	probably benign	Het
Asxl2	T	C	12: 3,534,598 (GRCm39)	V265A	probably damaging	Het
Bicd1	A	T	6: 149,414,954 (GRCm39)	R556*	probably null	Het
C2	A	G	17: 35,091,360 (GRCm39)	I101T	probably damaging	Het
Cd22	T	A	7: 30,577,575 (GRCm39)		probably benign	Het
Cd33	T	C	7: 43,181,542 (GRCm39)	H206R	probably damaging	Het
Cd5l	G	A	3: 87,275,082 (GRCm39)	G207D	possibly damaging	Het
Chrd	A	T	16: 20,557,724 (GRCm39)	D774V	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Csn1s1	A	T	5: 87,825,503 (GRCm39)		probably null	Het
Dpyd	G	A	3: 118,987,942 (GRCm39)	V704I	probably benign	Het
Dysf	A	T	6: 84,041,860 (GRCm39)	T154S	probably damaging	Het
Foxi2	T	C	7: 135,013,433 (GRCm39)	V221A	probably benign	Het
Gabbr2	A	T	4: 46,804,105 (GRCm39)	I250N	probably damaging	Het
Gfap	T	A	11: 102,787,895 (GRCm39)	T17S	probably benign	Het
Hcrtr2	A	G	9: 76,230,596 (GRCm39)	V64A	probably damaging	Het
Igkv4-86	A	G	6: 68,887,659 (GRCm39)	S27P	probably damaging	Het
Kalrn	G	T	16: 33,996,150 (GRCm39)	F903L	probably damaging	Het
Lrrc31	A	G	3: 30,745,304 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,314,219 (GRCm39)	T656A	probably benign	Het
Mss51	G	T	14: 20,533,174 (GRCm39)	S432R	possibly damaging	Het
Mzf1	A	G	7: 12,778,554 (GRCm39)		probably benign	Het
Nop58	T	A	1: 59,749,672 (GRCm39)		probably benign	Het
Or10al5	A	T	17: 38,062,975 (GRCm39)	I77F	possibly damaging	Het
Otogl	T	C	10: 107,622,630 (GRCm39)	E1652G	probably damaging	Het
Pikfyve	C	A	1: 65,295,247 (GRCm39)	N1459K	probably damaging	Het
Pkn3	G	A	2: 29,969,673 (GRCm39)	G61D	probably damaging	Het
Plekha4	T	C	7: 45,203,065 (GRCm39)	S581P	probably benign	Het
Ppm1g	A	G	5: 31,363,441 (GRCm39)	F256L	probably damaging	Het
Proser1	A	G	3: 53,386,296 (GRCm39)	N726S	probably benign	Het
Rapgef1	A	G	2: 29,592,448 (GRCm39)	D480G	probably damaging	Het
Reln	G	A	5: 22,244,663 (GRCm39)	Q772*	probably null	Het
Sh3gl2	T	C	4: 85,273,568 (GRCm39)	V40A	probably benign	Het
Slc22a23	G	A	13: 34,489,222 (GRCm39)	T221I	probably benign	Het
Slc22a28	T	A	19: 8,040,698 (GRCm39)	T518S	probably damaging	Het
Slc4a1ap	A	G	5: 31,711,173 (GRCm39)		probably benign	Het
St8sia4	T	C	1: 95,555,409 (GRCm39)	D207G	probably damaging	Het
Syde1	T	A	10: 78,421,725 (GRCm39)	T609S	probably benign	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tle4	T	C	19: 14,427,159 (GRCm39)	D754G	probably damaging	Het
Ttn	C	T	2: 76,562,869 (GRCm39)	W26949*	probably null	Het
Vmn1r222	A	C	13: 23,416,743 (GRCm39)	S157A	probably damaging	Het
Vmn1r51	T	A	6: 90,106,692 (GRCm39)	L203M	probably benign	Het
Vmn1r6	T	C	6: 56,979,362 (GRCm39)	L8P	probably damaging	Het
Vmn2r103	A	G	17: 20,013,904 (GRCm39)	D232G	probably damaging	Het
Vmn2r17	T	A	5: 109,576,030 (GRCm39)	D300E	probably damaging	Het
Vmn2r66	T	A	7: 84,654,951 (GRCm39)	K453*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Vps54	A	G	11: 21,261,130 (GRCm39)	N599S	possibly damaging	Het
Zc3h13	A	T	14: 75,568,348 (GRCm39)	N1214Y	probably benign	Het
Zc3h18	T	G	8: 123,135,109 (GRCm39)		probably null	Het
Zfp51	A	G	17: 21,684,354 (GRCm39)	E323G	probably damaging	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
R6484:Dscc1	UTSW	15	54,943,686 (GRCm39)	nonsense	probably null
R7562:Dscc1	UTSW	15	54,947,581 (GRCm39)	missense	probably benign	0.15
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'- TAAAGTATTCTTCTGTAAGCACTGGGG -3'
(R):5'- AAATGCCACTTAACAGGAGAAGATGTC -3'

Sequencing Primer
(F):5'- CTGTAAGCACTGGGGAGGTTAC -3'
(R):5'- AAGATGTCTGAGCCTGTCTGATACC -3'

Posted On

2016-10-26