Incidental Mutation 'IGL01121:Dscc1'
ID 52828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dscc1
Ensembl Gene ENSMUSG00000022422
Gene Name DNA replication and sister chromatid cohesion 1
Synonyms 2600005O03Rik, 2010006I05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # IGL01121
Quality Score
Status
Chromosome 15
Chromosomal Location 54939497-54953887 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 54945721 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
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700046A07Rik G A 18: 62,888,219 (GRCm39) noncoding transcript Het
4930432E11Rik A T 7: 29,273,426 (GRCm39) noncoding transcript Het
Alg3 T C 16: 20,429,397 (GRCm39) E31G probably damaging Het
Arhgap29 A G 3: 121,803,512 (GRCm39) E764G probably damaging Het
Atp5mf C A 5: 145,121,378 (GRCm39) V68L probably benign Het
Birc6 T A 17: 74,938,033 (GRCm39) I2645K probably benign Het
Capn11 A G 17: 45,950,058 (GRCm39) S369P probably benign Het
Car4 A T 11: 84,855,172 (GRCm39) probably null Het
Ccdc185 C T 1: 182,576,222 (GRCm39) V156I probably benign Het
Cpsf2 G T 12: 101,954,965 (GRCm39) E245D probably damaging Het
Dnah11 T C 12: 118,014,430 (GRCm39) D2019G probably benign Het
Dzip3 T C 16: 48,765,244 (GRCm39) D490G probably benign Het
E2f8 G A 7: 48,517,569 (GRCm39) Q745* probably null Het
Fat3 T A 9: 15,909,697 (GRCm39) T2102S probably benign Het
Fgf7 C T 2: 125,930,152 (GRCm39) probably benign Het
Fstl4 T C 11: 52,705,464 (GRCm39) F47L probably benign Het
Gm15097 A T X: 148,587,324 (GRCm39) R129S possibly damaging Het
Gm4297 C T X: 24,418,854 (GRCm39) D200N probably benign Het
Itgb5 G T 16: 33,740,359 (GRCm39) D490Y probably benign Het
Kansl1 A G 11: 104,226,422 (GRCm39) S912P probably benign Het
Kcnq3 A T 15: 65,877,826 (GRCm39) probably benign Het
Kctd6 A G 14: 8,222,656 (GRCm38) H166R possibly damaging Het
Kel T C 6: 41,679,343 (GRCm39) D140G probably benign Het
Lrif1 C A 3: 106,642,980 (GRCm39) S177* probably null Het
Lrp1 A T 10: 127,419,722 (GRCm39) C962* probably null Het
Lypd5 A T 7: 24,050,976 (GRCm39) Y29F probably benign Het
Mmrn1 A G 6: 60,952,928 (GRCm39) D403G possibly damaging Het
Nhsl1 T G 10: 18,387,458 (GRCm39) V244G probably damaging Het
Or6c35 T C 10: 129,168,804 (GRCm39) I18T probably benign Het
Ptprd A T 4: 75,872,438 (GRCm39) probably benign Het
Rcan2 A T 17: 44,328,775 (GRCm39) I69L probably damaging Het
Rprd2 A G 3: 95,683,862 (GRCm39) L373P probably damaging Het
Slc10a4 T C 5: 73,164,929 (GRCm39) C174R probably damaging Het
Tas2r134 C T 2: 51,518,001 (GRCm39) T160I probably damaging Het
Tbc1d19 T A 5: 54,054,404 (GRCm39) L464* probably null Het
Tmem45a2 C T 16: 56,861,153 (GRCm39) D225N possibly damaging Het
Unc79 G A 12: 103,131,890 (GRCm39) C2139Y probably damaging Het
Vmn2r101 G T 17: 19,809,936 (GRCm39) G241C probably damaging Het
Vmn2r91 T C 17: 18,356,766 (GRCm39) V811A possibly damaging Het
Wdr11 T C 7: 129,229,746 (GRCm39) Y844H probably benign Het
Wdr70 T C 15: 7,902,655 (GRCm39) K656E possibly damaging Het
Zfp579 C A 7: 4,996,246 (GRCm39) C555F possibly damaging Het
Other mutations in Dscc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21