Incidental Mutation 'R1498:Dscc1'
ID 271574
Institutional Source Beutler Lab
Gene Symbol Dscc1
Ensembl Gene ENSMUSG00000022422
Gene Name DNA replication and sister chromatid cohesion 1
Synonyms 2600005O03Rik, 2010006I05Rik
MMRRC Submission 039549-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R1498 (G1)
Quality Score 217
Status Validated
Chromosome 15
Chromosomal Location 54939497-54953887 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) CTGAATGAAT to CTGAAT at 54943572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023059] [ENSMUST00000110231]
AlphaFold Q14AI0
Predicted Effect probably benign
Transcript: ENSMUST00000023059
SMART Domains Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422

DomainStartEndE-ValueType
low complexity region 38 47 N/A INTRINSIC
Pfam:DUF2036 48 364 7.3e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110231
SMART Domains Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 97% (83/86)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,374,627 (GRCm39) S799P probably benign Het
Acvr1b T C 15: 101,091,891 (GRCm39) F57S probably benign Het
Adamts5 T A 16: 85,696,990 (GRCm39) T56S possibly damaging Het
Adrb2 T C 18: 62,312,004 (GRCm39) T274A probably damaging Het
Agr3 A T 12: 35,984,379 (GRCm39) probably null Het
Ankrd6 A G 4: 32,810,289 (GRCm39) M405T probably benign Het
Aoc1l2 A G 6: 48,908,305 (GRCm39) H435R probably benign Het
Aqp5 T C 15: 99,491,128 (GRCm39) I60T probably damaging Het
Arf5 G T 6: 28,426,153 (GRCm39) R180L probably benign Het
Asap3 A G 4: 135,966,505 (GRCm39) N528D probably benign Het
Atmin G A 8: 117,681,540 (GRCm39) E180K probably benign Het
Bcl11a A T 11: 24,114,005 (GRCm39) E449D probably damaging Het
Cep128 A T 12: 91,333,191 (GRCm39) F25I probably benign Het
Cfp GCAC GC X: 20,795,905 (GRCm39) probably null Het
Chpt1 T A 10: 88,312,966 (GRCm39) Y282F possibly damaging Het
Cul7 A G 17: 46,966,636 (GRCm39) D355G probably benign Het
Daxx T C 17: 34,131,227 (GRCm39) Y385H probably damaging Het
Dnah2 A C 11: 69,411,493 (GRCm39) probably null Het
Erc2 T A 14: 28,024,855 (GRCm39) M578K probably benign Het
Evc T A 5: 37,481,044 (GRCm39) H267L possibly damaging Het
Exosc10 A C 4: 148,666,243 (GRCm39) Q837P possibly damaging Het
Fasn G A 11: 120,706,245 (GRCm39) T1033I probably damaging Het
Fat1 C A 8: 45,478,521 (GRCm39) Y2522* probably null Het
Fbxw8 G A 5: 118,203,850 (GRCm39) probably benign Het
Fyn A G 10: 39,408,120 (GRCm39) D321G possibly damaging Het
Grm6 G A 11: 50,748,083 (GRCm39) V398M probably damaging Het
Gtpbp1 T A 15: 79,603,222 (GRCm39) probably null Het
Hnf1a A G 5: 115,108,596 (GRCm39) V103A probably damaging Het
Hsp90aa1 A T 12: 110,662,122 (GRCm39) probably null Het
Iqgap2 C T 13: 95,783,313 (GRCm39) V1288I probably benign Het
Irx5 A G 8: 93,086,514 (GRCm39) D199G probably damaging Het
Klrh1 A G 6: 129,748,703 (GRCm39) S105P probably damaging Het
Krt9 G T 11: 100,079,195 (GRCm39) C732* probably null Het
Lifr T C 15: 7,220,099 (GRCm39) S910P probably damaging Het
Lrig1 G A 6: 94,604,968 (GRCm39) A209V possibly damaging Het
Lrrk1 T A 7: 65,952,419 (GRCm39) R506* probably null Het
Lyst T A 13: 13,824,960 (GRCm39) I1525K possibly damaging Het
Mad2l1 C T 6: 66,516,826 (GRCm39) Q173* probably null Het
Mcoln1 T A 8: 3,562,861 (GRCm39) I524N probably damaging Het
Mmp3 A T 9: 7,446,967 (GRCm39) D49V possibly damaging Het
Morc3 A T 16: 93,650,743 (GRCm39) N321I probably damaging Het
Mrpl48 T C 7: 100,195,695 (GRCm39) probably benign Het
Myo6 T A 9: 80,214,961 (GRCm39) D1231E probably damaging Het
Nlrc4 A G 17: 74,753,408 (GRCm39) I325T probably benign Het
Or1j19 A T 2: 36,677,358 (GRCm39) I274F probably damaging Het
Or2ag17 T C 7: 106,389,623 (GRCm39) Y195C possibly damaging Het
Or4f61 A T 2: 111,922,938 (GRCm39) M36K probably benign Het
Or8c16 C G 9: 38,130,676 (GRCm39) P183A probably damaging Het
Or8k32 A G 2: 86,368,902 (GRCm39) V117A probably benign Het
Parvg T A 15: 84,218,832 (GRCm39) S230T possibly damaging Het
Pcca T C 14: 122,854,230 (GRCm39) I118T probably damaging Het
Pde6a A G 18: 61,365,932 (GRCm39) N219S possibly damaging Het
Phldb1 G T 9: 44,612,915 (GRCm39) P935Q possibly damaging Het
Plppr5 T C 3: 117,456,261 (GRCm39) S261P probably damaging Het
Ppl T C 16: 4,922,629 (GRCm39) N260S probably benign Het
Ppp1r3e A T 14: 55,113,882 (GRCm39) H263Q probably benign Het
Ppp3cb T C 14: 20,559,567 (GRCm39) probably null Het
Ppt2 A T 17: 34,842,075 (GRCm39) D185E probably benign Het
Prr27 A T 5: 87,998,600 (GRCm39) probably benign Het
Ptcd3 A T 6: 71,870,479 (GRCm39) V327E probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rtp1 A T 16: 23,249,970 (GRCm39) M112L probably benign Het
Slc22a5 A T 11: 53,760,140 (GRCm39) L392Q probably damaging Het
Slc6a7 A G 18: 61,129,764 (GRCm39) I614T probably benign Het
Slu7 C A 11: 43,329,044 (GRCm39) P89T possibly damaging Het
Smarcc2 T C 10: 128,318,061 (GRCm39) V618A probably benign Het
Sorl1 C T 9: 41,952,369 (GRCm39) R729Q probably damaging Het
Sptbn2 T C 19: 4,794,274 (GRCm39) F1493L possibly damaging Het
Sulf1 C T 1: 12,918,574 (GRCm39) T66I probably damaging Het
Tgtp2 A G 11: 48,950,165 (GRCm39) Y136H probably damaging Het
Tmem117 T C 15: 94,536,242 (GRCm39) F92S probably damaging Het
Tmprss9 T A 10: 80,730,934 (GRCm39) V820E probably benign Het
Tpcn2 A G 7: 144,822,648 (GRCm39) Y266H probably damaging Het
Trat1 A G 16: 48,555,304 (GRCm39) S143P probably benign Het
Vmn1r49 T A 6: 90,049,298 (GRCm39) R235W probably damaging Het
Vmn1r71 A T 7: 10,482,575 (GRCm39) C38S probably benign Het
Vmn2r6 T A 3: 64,463,890 (GRCm39) T315S probably damaging Het
Wdr36 A G 18: 32,986,021 (GRCm39) D575G possibly damaging Het
Zfp292 G T 4: 34,805,397 (GRCm39) A2549E possibly damaging Het
Zfp354a A T 11: 50,961,073 (GRCm39) H426L probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp648 T A 1: 154,081,119 (GRCm39) I426N probably damaging Het
Zfp87 T C 13: 74,520,736 (GRCm39) N114S probably benign Het
Other mutations in Dscc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGAATGTGCAGGCACACACTCC -3'
(R):5'- AGCTATCTTGGCAAGCAGACGG -3'

Sequencing Primer
(F):5'- TCGGTAAGAGGCATTTACCC -3'
(R):5'- CCTGTAAGCCTCTGGATAGAC -3'
Posted On 2015-03-23