Incidental Mutation 'R2419:Dscc1'
ID 476210
Institutional Source Beutler Lab
Gene Symbol Dscc1
Ensembl Gene ENSMUSG00000022422
Gene Name DNA replication and sister chromatid cohesion 1
Synonyms 2600005O03Rik, 2010006I05Rik
MMRRC Submission 040381-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R2419 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 54939497-54953887 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 54946820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 302 (R302*)
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 null
Transcript: ENSMUST00000110231
AA Change: R302*
SMART Domains Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: R302*

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (57/58)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,328,001 (GRCm39) A768T probably benign Het
Acyp2 T C 11: 30,582,316 (GRCm39) Y33C probably benign Het
Ampd3 A G 7: 110,367,576 (GRCm39) probably benign Het
Arap3 T C 18: 38,122,997 (GRCm39) D501G probably damaging Het
Arl4d A T 11: 101,557,714 (GRCm39) Q80L probably damaging Het
Bcorl1 A G X: 47,459,418 (GRCm39) T425A probably damaging Het
Ccdc38 T A 10: 93,384,837 (GRCm39) V35D probably benign Het
Cd6 G A 19: 10,770,216 (GRCm39) P492S probably damaging Het
Cdh20 G A 1: 104,902,740 (GRCm39) S477N possibly damaging Het
Cnmd G A 14: 79,875,488 (GRCm39) P311S probably damaging Het
Cnot8 G A 11: 58,006,136 (GRCm39) G222R probably damaging Het
Dnah9 A T 11: 65,986,241 (GRCm39) L1131* probably null Het
Dusp18 T C 11: 3,847,018 (GRCm39) S3P possibly damaging Het
Eml2 A G 7: 18,910,620 (GRCm39) probably benign Het
Foxb2 G C 19: 16,850,325 (GRCm39) A227G probably damaging Het
Hey1 A G 3: 8,731,003 (GRCm39) probably null Het
Itk A G 11: 46,229,044 (GRCm39) F379L probably damaging Het
Kcna2 G A 3: 107,011,469 (GRCm39) G17R probably benign Het
Kif7 C A 7: 79,348,441 (GRCm39) R1300L probably benign Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Leng9 A G 7: 4,151,626 (GRCm39) V350A probably benign Het
Lmbr1l A C 15: 98,805,418 (GRCm39) F361C possibly damaging Het
Lrat A G 3: 82,810,992 (GRCm39) S10P probably damaging Het
Lrrk2 C A 15: 91,681,729 (GRCm39) probably benign Het
Mcur1 C T 13: 43,703,013 (GRCm39) V241M possibly damaging Het
Met T C 6: 17,535,829 (GRCm39) probably benign Het
Mical3 A G 6: 120,936,884 (GRCm39) V342A probably benign Het
Nup210 G A 6: 90,994,538 (GRCm39) probably benign Het
Or1i2 T A 10: 78,448,221 (GRCm39) I85F probably benign Het
Or1j12 T A 2: 36,343,338 (GRCm39) V247E probably damaging Het
Or4c107 A G 2: 88,789,380 (GRCm39) N190S probably benign Het
Pcdhac1 T C 18: 37,224,381 (GRCm39) L398P probably benign Het
Phc3 T C 3: 31,005,027 (GRCm39) M189V probably damaging Het
Plcb1 A G 2: 135,104,020 (GRCm39) probably benign Het
Plcxd3 G T 15: 4,604,245 (GRCm39) K284N probably benign Het
Plxnb2 A G 15: 89,045,272 (GRCm39) V1058A possibly damaging Het
Rbbp5 T C 1: 132,421,564 (GRCm39) I88T possibly damaging Het
Rfpl4b T C 10: 38,697,368 (GRCm39) R78G probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Samt2 A T X: 153,358,223 (GRCm39) probably null Het
Sdad1 T C 5: 92,453,677 (GRCm39) H37R possibly damaging Het
Setd2 T A 9: 110,378,065 (GRCm39) F627I possibly damaging Het
Ski A G 4: 155,245,350 (GRCm39) S293P probably benign Het
Slc27a1 A G 8: 72,032,560 (GRCm39) E191G possibly damaging Het
Snx18 T C 13: 113,753,755 (GRCm39) M393V possibly damaging Het
Spata31g1 A G 4: 42,974,146 (GRCm39) T1160A possibly damaging Het
Tacc1 A G 8: 25,672,829 (GRCm39) V42A possibly damaging Het
Tbc1d8 A G 1: 39,415,983 (GRCm39) F897L probably damaging Het
Tenm3 C T 8: 48,729,693 (GRCm39) D1438N possibly damaging Het
Tmem62 G A 2: 120,837,586 (GRCm39) G501E probably damaging Het
Tmem94 A G 11: 115,687,641 (GRCm39) K1167E probably damaging Het
Trap1 A G 16: 3,886,194 (GRCm39) S88P probably benign Het
Ugt2b38 T C 5: 87,571,591 (GRCm39) D147G probably damaging Het
Vmn1r168 A T 7: 23,240,824 (GRCm39) N227I probably benign Het
Vmn1r203 T A 13: 22,709,004 (GRCm39) S262T possibly damaging Het
Vmn1r204 T G 13: 22,740,420 (GRCm39) L17R probably damaging Het
Zcchc14 T A 8: 122,330,675 (GRCm39) Q896L probably damaging Het
Zfp619 A G 7: 39,185,307 (GRCm39) K446E possibly damaging Het
Zpr1 T C 9: 46,187,490 (GRCm39) 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
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
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
Posted On 2017-05-11