Incidental Mutation 'IGL01121:Dscc1'
ID52828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dscc1
Ensembl Gene ENSMUSG00000022422
Gene NameDNA replication and sister chromatid cohesion 1
Synonyms2600005O03Rik, 2010006I05Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #IGL01121
Quality Score
Status
Chromosome15
Chromosomal Location55076099-55090491 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 55082325 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023059] [ENSMUST00000110231]
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: 62,755,148 noncoding transcript Het
4930432E11Rik A T 7: 29,574,001 noncoding transcript Het
Alg3 T C 16: 20,610,647 E31G probably damaging Het
Arhgap29 A G 3: 122,009,863 E764G probably damaging Het
Atp5j2 C A 5: 145,184,568 V68L probably benign Het
Birc6 T A 17: 74,631,038 I2645K probably benign Het
Capn11 A G 17: 45,639,132 S369P probably benign Het
Car4 A T 11: 84,964,346 probably null Het
Ccdc185 C T 1: 182,748,657 V156I probably benign Het
Cpsf2 G T 12: 101,988,706 E245D probably damaging Het
Dnah11 T C 12: 118,050,695 D2019G probably benign Het
Dzip3 T C 16: 48,944,881 D490G probably benign Het
E2f8 G A 7: 48,867,821 Q745* probably null Het
Fat3 T A 9: 15,998,401 T2102S probably benign Het
Fgf7 C T 2: 126,088,232 probably benign Het
Fstl4 T C 11: 52,814,637 F47L probably benign Het
Gm15097 A T X: 149,804,328 R129S possibly damaging Het
Gm4297 C T X: 24,552,615 D200N probably benign Het
Itgb5 G T 16: 33,919,989 D490Y probably benign Het
Kansl1 A G 11: 104,335,596 S912P probably benign Het
Kcnq3 A T 15: 66,005,977 probably benign Het
Kctd6 A G 14: 8,222,656 H166R possibly damaging Het
Kel T C 6: 41,702,409 D140G probably benign Het
Lrif1 C A 3: 106,735,664 S177* probably null Het
Lrp1 A T 10: 127,583,853 C962* probably null Het
Lypd5 A T 7: 24,351,551 Y29F probably benign Het
Mmrn1 A G 6: 60,975,944 D403G possibly damaging Het
Nhsl1 T G 10: 18,511,710 V244G probably damaging Het
Olfr781 T C 10: 129,332,935 I18T probably benign Het
Ptprd A T 4: 75,954,201 probably benign Het
Rcan2 A T 17: 44,017,884 I69L probably damaging Het
Rprd2 A G 3: 95,776,550 L373P probably damaging Het
Slc10a4 T C 5: 73,007,586 C174R probably damaging Het
Tas2r134 C T 2: 51,627,989 T160I probably damaging Het
Tbc1d19 T A 5: 53,897,062 L464* probably null Het
Tmem45a2 C T 16: 57,040,790 D225N possibly damaging Het
Unc79 G A 12: 103,165,631 C2139Y probably damaging Het
Vmn2r101 G T 17: 19,589,674 G241C probably damaging Het
Vmn2r91 T C 17: 18,136,504 V811A possibly damaging Het
Wdr11 T C 7: 129,628,022 Y844H probably benign Het
Wdr70 T C 15: 7,873,174 K656E possibly damaging Het
Zfp579 C A 7: 4,993,247 C555F possibly damaging Het
Other mutations in Dscc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01879:Dscc1 APN 15 55086816 missense probably benign 0.21
BB001:Dscc1 UTSW 15 55082176 missense probably benign 0.03
BB011:Dscc1 UTSW 15 55082176 missense probably benign 0.03
PIT4498001:Dscc1 UTSW 15 55082315 missense probably benign 0.00
PIT4812001:Dscc1 UTSW 15 55082261 missense probably damaging 1.00
R0106:Dscc1 UTSW 15 55083570 missense probably benign 0.10
R0106:Dscc1 UTSW 15 55083570 missense probably benign 0.10
R0594:Dscc1 UTSW 15 55089052 missense possibly damaging 0.69
R0616:Dscc1 UTSW 15 55083570 missense probably benign 0.10
R1458:Dscc1 UTSW 15 55086764 missense probably damaging 1.00
R1498:Dscc1 UTSW 15 55080176 splice site probably benign
R1763:Dscc1 UTSW 15 55080176 splice site probably benign
R1763:Dscc1 UTSW 15 55084139 missense probably damaging 0.98
R1985:Dscc1 UTSW 15 55080176 splice site probably benign
R2418:Dscc1 UTSW 15 55083424 nonsense probably null
R2419:Dscc1 UTSW 15 55083424 nonsense probably null
R3955:Dscc1 UTSW 15 55083553 missense probably benign 0.05
R4773:Dscc1 UTSW 15 55080258 missense probably benign 0.01
R5611:Dscc1 UTSW 15 55082173 missense probably benign 0.23
R6484:Dscc1 UTSW 15 55080290 nonsense probably null
R7562:Dscc1 UTSW 15 55084185 missense probably benign 0.15
R7662:Dscc1 UTSW 15 55076165 missense possibly damaging 0.95
R7924:Dscc1 UTSW 15 55082176 missense probably benign 0.03
Z1088:Dscc1 UTSW 15 55080317 missense possibly damaging 0.70
Posted On2013-06-21