Mutagenetix > Incidental Mutation

Incidental Mutation 'R9764:Dscc1'

733172

Institutional Source

Beutler Lab

Gene Symbol

Dscc1

Ensembl Gene

ENSMUSG00000022422

Gene Name

DNA replication and sister chromatid cohesion 1

Synonyms

2600005O03Rik, 2010006I05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R9764 (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 54953674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 50 (C50R)

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: C50R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422
AA Change: C50R

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: C50R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: C50R

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: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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
1700029F12Rik	T	C	13: 97,166,738 (GRCm39)	T93A	unknown	Het
Adgrg6	T	A	10: 14,302,515 (GRCm39)	H938L	probably benign	Het
Aff1	A	G	5: 103,997,365 (GRCm39)	Y1153C	probably damaging	Het
Akr1c20	T	A	13: 4,564,388 (GRCm39)	I42L	probably benign	Het
Atad2b	T	A	12: 5,082,064 (GRCm39)	N1324K	probably benign	Het
Aurka	T	A	2: 172,201,760 (GRCm39)	I270F	probably damaging	Het
Camk2g	A	T	14: 20,815,498 (GRCm39)	D189E	probably damaging	Het
Cc2d2b	A	G	19: 40,804,299 (GRCm39)	D942G	unknown	Het
Ccnd1	A	C	7: 144,491,770 (GRCm39)	S90A	probably benign	Het
Cfap77	G	T	2: 28,852,741 (GRCm39)	T177K	probably damaging	Het
Chd9	A	G	8: 91,721,220 (GRCm39)	N1003D	unknown	Het
Chga	C	G	12: 102,525,613 (GRCm39)	Q85E	possibly damaging	Het
Cnot1	T	C	8: 96,496,209 (GRCm39)	S322G	probably benign	Het
Cyp8b1	C	A	9: 121,744,294 (GRCm39)	S346I	probably benign	Het
Cysltr2	T	A	14: 73,266,906 (GRCm39)	H268L	probably damaging	Het
Dnah11	T	C	12: 117,884,704 (GRCm39)	T3783A	probably benign	Het
Dock3	C	T	9: 106,959,713 (GRCm39)	V109I	probably benign	Het
Dtx3l	T	A	16: 35,753,277 (GRCm39)	D443V	probably damaging	Het
Ephb6	A	G	6: 41,592,911 (GRCm39)	H383R	probably benign	Het
Fdft1	A	G	14: 63,400,869 (GRCm39)	I88T	probably damaging	Het
Fmo3	C	A	1: 162,794,524 (GRCm39)	W182L	probably benign	Het
Folh1	T	A	7: 86,406,158 (GRCm39)	Q305L	probably benign	Het
Gale	C	T	4: 135,692,975 (GRCm39)	Q73*	probably null	Het
Gm9195	T	C	14: 72,699,885 (GRCm39)	M1154V	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gtsf1l	T	C	2: 162,929,052 (GRCm39)	T144A	probably benign	Het
Itpkc	T	C	7: 26,927,222 (GRCm39)	T231A	probably benign	Het
Kng2	C	A	16: 22,822,737 (GRCm39)	C205F	probably damaging	Het
Ldlrap1	T	G	4: 134,476,661 (GRCm39)	N244T	probably benign	Het
Lingo2	A	G	4: 35,709,750 (GRCm39)	F77L	possibly damaging	Het
Lpcat2b	A	T	5: 107,581,438 (GRCm39)	T256S	possibly damaging	Het
Lrit2	A	G	14: 36,790,936 (GRCm39)	D205G	probably damaging	Het
Lrrc34	T	C	3: 30,697,467 (GRCm39)	D88G	probably damaging	Het
Macf1	T	C	4: 123,366,136 (GRCm39)	E2875G	probably benign	Het
Med13	G	T	11: 86,177,345 (GRCm39)	Q1584K	possibly damaging	Het
Naip5	C	G	13: 100,367,269 (GRCm39)	A276P	probably damaging	Het
Ndufv2	A	G	17: 66,394,503 (GRCm39)	Y121H	probably damaging	Het
Or4f52	T	A	2: 111,061,521 (GRCm39)	I206F	probably damaging	Het
Peg12	T	C	7: 62,113,297 (GRCm39)	T267A	unknown	Het
Pkig	A	G	2: 163,567,375 (GRCm39)		probably null	Het
Prkch	C	G	12: 73,747,078 (GRCm39)	T319S	probably benign	Het
Rhobtb1	T	C	10: 69,115,202 (GRCm39)	S534P	probably damaging	Het
Riok2	A	G	17: 17,607,814 (GRCm39)	N454S	probably benign	Het
Ryr2	T	A	13: 11,701,935 (GRCm39)	K2907N	possibly damaging	Het
Sdc3	C	T	4: 130,546,048 (GRCm39)	P136S	unknown	Het
Slc37a3	G	A	6: 39,322,844 (GRCm39)	L371F	probably damaging	Het
Slc3a1	A	T	17: 85,371,419 (GRCm39)	H657L	probably damaging	Het
Slc7a13	T	A	4: 19,819,033 (GRCm39)	Y78N	probably benign	Het
Slfn8	G	T	11: 82,907,838 (GRCm39)	A235E	probably damaging	Het
Snap91	T	A	9: 86,707,094 (GRCm39)	D232V	possibly damaging	Het
Stap2	C	A	17: 56,309,914 (GRCm39)	S79I	probably damaging	Het
Stra6l	T	C	4: 45,884,602 (GRCm39)	V544A	probably damaging	Het
Syn2	T	C	6: 115,251,219 (GRCm39)		probably null	Het
Tctn1	G	A	5: 122,388,527 (GRCm39)	P284S	possibly damaging	Het
Terb2	G	A	2: 122,018,475 (GRCm39)	M77I	probably benign	Het
Trim80	G	T	11: 115,338,757 (GRCm39)	R529L	possibly damaging	Het
Washc2	T	C	6: 116,186,048 (GRCm39)	L86P	possibly damaging	Het
Zfp74	A	T	7: 29,631,845 (GRCm39)	F133Y	probably benign	Het
Zfp987	T	A	4: 146,060,752 (GRCm39)	N61K	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
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
Z1088:Dscc1	UTSW	15	54,943,713 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- ATGACAGCAAGCTGAGGACC -3'
(R):5'- AGTTTAGGTCGAGGACACACC -3'

Sequencing Primer
(F):5'- TGTACGGGCCCAATCAAAG -3'
(R):5'- GTCGAGGACACACCCCTCTC -3'

Posted On

2022-11-14