Incidental Mutation 'IGL01879:Dscc1'
ID 178994
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 # IGL01879
Quality Score
Status
Chromosome 15
Chromosomal Location 54939497-54953887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54950212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 178 (I178V)
Ref Sequence ENSEMBL: ENSMUSP00000105860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023059] [ENSMUST00000110231]
AlphaFold Q14AI0
Predicted Effect probably benign
Transcript: ENSMUST00000023059
AA Change: I178V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422
AA Change: I178V

DomainStartEndE-ValueType
low complexity region 38 47 N/A INTRINSIC
Pfam:DUF2036 48 364 7.3e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110231
AA Change: I178V

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: I178V

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cgn G A 3: 94,681,674 (GRCm39) R474* probably null Het
Chmp4b T C 2: 154,534,601 (GRCm39) probably benign Het
Chst15 A G 7: 131,871,994 (GRCm39) Y96H possibly damaging Het
Clstn3 A G 6: 124,415,769 (GRCm39) S638P probably damaging Het
Colq C T 14: 31,265,952 (GRCm39) G187E probably damaging Het
Cyp2b23 A G 7: 26,372,279 (GRCm39) Y389H probably benign Het
Cyp3a13 T C 5: 137,917,265 (GRCm39) Q54R probably benign Het
Fbxo4 G A 15: 4,005,436 (GRCm39) T148M probably damaging Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gpr162 A G 6: 124,838,204 (GRCm39) S149P probably damaging Het
Grid1 T A 14: 35,172,327 (GRCm39) I611N possibly damaging Het
Mgat5 T C 1: 127,325,287 (GRCm39) F385L probably damaging Het
Npepps T C 11: 97,149,166 (GRCm39) T17A possibly damaging Het
Or4c125 T C 2: 89,170,366 (GRCm39) I93M probably benign Het
Or4n4b A G 14: 50,535,969 (GRCm39) S266P probably benign Het
Or5p60 A T 7: 107,724,371 (GRCm39) I33N possibly damaging Het
Or7g29 A T 9: 19,286,703 (GRCm39) L158* probably null Het
Parg T C 14: 31,993,579 (GRCm39) probably benign Het
Rad51ap2 A G 12: 11,508,139 (GRCm39) D687G probably benign Het
Sh3bp1 T G 15: 78,792,192 (GRCm39) S450A probably damaging Het
Skap2 T C 6: 51,973,014 (GRCm39) D90G possibly damaging Het
Smc5 C T 19: 23,205,548 (GRCm39) R796H probably damaging Het
Tdrd12 A C 7: 35,221,348 (GRCm39) I146S probably damaging Het
Tinf2 T C 14: 55,918,363 (GRCm39) probably benign Het
Trio G A 15: 27,741,119 (GRCm39) T2702I probably benign Het
Vmn1r88 T A 7: 12,912,229 (GRCm39) M195K probably benign Het
Vmn2r110 T C 17: 20,794,122 (GRCm39) H849R probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r4 C T 3: 64,298,431 (GRCm39) G566R probably damaging Het
Wdpcp A G 11: 21,661,630 (GRCm39) T301A probably damaging Het
Other mutations in Dscc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01121:Dscc1 APN 15 54,945,721 (GRCm39) splice site probably benign
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 2014-05-07