Mutagenetix > Incidental Mutation

Incidental Mutation 'R6484:Dscc1'

517274

Institutional Source

Beutler Lab

Gene Symbol

Dscc1

Ensembl Gene

ENSMUSG00000022422

Gene Name

DNA replication and sister chromatid cohesion 1

Synonyms

2600005O03Rik, 2010006I05Rik

MMRRC Submission

044616-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R6484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54939497-54953887 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 54943686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 395 (K395*)

Ref Sequence

ENSEMBL: ENSMUSP00000105860 (fasta)

Gene Model

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

AlphaFold

Q14AI0

Predicted Effect

probably null
Transcript: ENSMUST00000023059
AA Change: K332*

SMART Domains

Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422
AA Change: K332*

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: K395*

SMART Domains

Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: K395*

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: 97.8%
20x: 92.7%

Validation Efficiency

100% (60/60)

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
Abce1	A	T	8: 80,416,952 (GRCm39)	M353K	probably damaging	Het
Adgre4	G	A	17: 56,109,036 (GRCm39)	V348M	possibly damaging	Het
Alg8	T	C	7: 97,032,135 (GRCm39)	V228A	probably benign	Het
Bltp2	T	C	11: 78,169,921 (GRCm39)	V1548A	probably damaging	Het
Btbd8	T	C	5: 107,651,451 (GRCm39)	S115P	probably benign	Het
Car8	A	G	4: 8,189,362 (GRCm39)	F151L	probably benign	Het
CN725425	A	G	15: 91,144,775 (GRCm39)	Q546R	probably benign	Het
Col17a1	C	T	19: 47,658,868 (GRCm39)	V414M	possibly damaging	Het
Col6a3	C	A	1: 90,719,645 (GRCm39)		probably null	Het
Cyp51	G	A	5: 4,136,627 (GRCm39)	T389M	probably benign	Het
Cyren	G	A	6: 34,851,551 (GRCm39)	S101L	probably damaging	Het
Dazap1	A	G	10: 80,113,481 (GRCm39)	T126A	probably benign	Het
Dthd1	A	G	5: 62,971,675 (GRCm39)	N166S	probably benign	Het
Eefsec	C	G	6: 88,274,770 (GRCm39)	W398S	probably damaging	Het
Enpep	T	A	3: 129,115,130 (GRCm39)	H214L	probably damaging	Het
Esf1	T	C	2: 140,000,458 (GRCm39)	I443V	probably benign	Het
Espl1	T	C	15: 102,231,935 (GRCm39)	V1984A	possibly damaging	Het
Hip1	A	G	5: 135,468,983 (GRCm39)	S280P	probably damaging	Het
Il12rb1	C	T	8: 71,262,348 (GRCm39)		probably null	Het
Itgax	T	A	7: 127,732,890 (GRCm39)	C255S	probably benign	Het
Kifc5b	T	C	17: 27,143,746 (GRCm39)	V506A	probably damaging	Het
Klf3	A	G	5: 64,980,372 (GRCm39)	E54G	probably damaging	Het
Lrig3	A	G	10: 125,832,478 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,836,744 (GRCm39)	I104V	probably benign	Het
Mdga2	T	C	12: 66,676,843 (GRCm39)	E552G	possibly damaging	Het
Mpc1	A	G	17: 8,515,788 (GRCm39)	E160G	possibly damaging	Het
Myh10	T	A	11: 68,590,293 (GRCm39)	I76N	probably damaging	Het
Myh7b	A	T	2: 155,470,563 (GRCm39)	I1032F	probably benign	Het
Olfml2a	G	A	2: 38,849,780 (GRCm39)	V499I	probably damaging	Het
Or2h1	T	A	17: 37,404,158 (GRCm39)	I203F	probably benign	Het
Or4f58	A	T	2: 111,851,764 (GRCm39)	L145*	probably null	Het
Or5b105	A	G	19: 13,080,431 (GRCm39)	V79A	probably benign	Het
P2ry12	A	G	3: 59,124,754 (GRCm39)	L307P	probably damaging	Het
Pappa	C	A	4: 65,232,896 (GRCm39)	A1345D	probably damaging	Het
Phox2b	A	G	5: 67,255,044 (GRCm39)	I135T	possibly damaging	Het
Poln	C	T	5: 34,286,857 (GRCm39)	A104T	probably benign	Het
Prkce	A	G	17: 86,798,237 (GRCm39)	D342G	probably benign	Het
Ptchd3	T	A	11: 121,733,764 (GRCm39)	F885I	possibly damaging	Het
Rcbtb2	A	T	14: 73,414,490 (GRCm39)	S434C	probably damaging	Het
Rfc1	A	G	5: 65,451,020 (GRCm39)	V356A	probably benign	Het
Rln1	A	G	19: 29,311,902 (GRCm39)	F32S	probably benign	Het
Ryr2	A	G	13: 11,677,269 (GRCm39)	L3194P	possibly damaging	Het
Sat2	T	C	11: 69,513,353 (GRCm39)	V34A	probably damaging	Het
Scgb3a2	T	C	18: 43,899,784 (GRCm39)	I24T	possibly damaging	Het
Slc35e2	T	G	4: 155,697,104 (GRCm39)	V206G	probably damaging	Het
Slit3	A	T	11: 35,552,125 (GRCm39)	M890L	probably benign	Het
Sorl1	A	G	9: 41,887,703 (GRCm39)	L2042P	probably damaging	Het
Ssbp1	T	A	6: 40,451,600 (GRCm39)	V9E	probably damaging	Het
Tbc1d23	C	T	16: 56,998,379 (GRCm39)	V520M	probably damaging	Het
Thumpd2	T	C	17: 81,361,617 (GRCm39)	E203G	probably benign	Het
Tlr11	A	G	14: 50,600,135 (GRCm39)	D707G	probably damaging	Het
Tlr12	T	A	4: 128,509,847 (GRCm39)	D801V	probably damaging	Het
Tnrc6b	T	G	15: 80,763,525 (GRCm39)	N342K	possibly damaging	Het
Vmn1r191	A	C	13: 22,362,918 (GRCm39)	F279V	probably benign	Het
Vmn2r13	A	T	5: 109,304,540 (GRCm39)	C630*	probably null	Het
Zbtb1	C	T	12: 76,432,665 (GRCm39)	T217I	probably damaging	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,549,992 (GRCm39)		probably benign	Het
Zzef1	C	T	11: 72,786,097 (GRCm39)	P2090S	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
R5611:Dscc1	UTSW	15	54,945,569 (GRCm39)	missense	probably benign	0.23
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'- AACAATGCCATGTTAAGGTCAG -3'
(R):5'- ACATGCTGCCTGTAAGCCTC -3'

Sequencing Primer
(F):5'- CAATGCCATGTTAAGGTCAGAAATC -3'
(R):5'- TGCCTGTAAGCCTCTGGATAGAC -3'

Posted On

2018-05-21