Incidental Mutation 'IGL01879:Dscc1'
ID178994
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: 0.964) question?
Stock #IGL01879
Quality Score
Status
Chromosome15
Chromosomal Location55076099-55090491 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55086816 bp
ZygosityHeterozygous
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]
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: 94,774,364 R474* probably null Het
Chmp4b T C 2: 154,692,681 probably benign Het
Chst15 A G 7: 132,270,265 Y96H possibly damaging Het
Clstn3 A G 6: 124,438,810 S638P probably damaging Het
Colq C T 14: 31,543,995 G187E probably damaging Het
Cyp2b23 A G 7: 26,672,854 Y389H probably benign Het
Cyp3a13 T C 5: 137,919,003 Q54R probably benign Het
Fbxo4 G A 15: 3,975,954 T148M probably damaging Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gpr162 A G 6: 124,861,241 S149P probably damaging Het
Grid1 T A 14: 35,450,370 I611N possibly damaging Het
Mgat5 T C 1: 127,397,550 F385L probably damaging Het
Npepps T C 11: 97,258,340 T17A possibly damaging Het
Olfr1233 T C 2: 89,340,022 I93M probably benign Het
Olfr484 A T 7: 108,125,164 I33N possibly damaging Het
Olfr733 A G 14: 50,298,512 S266P probably benign Het
Olfr847 A T 9: 19,375,407 L158* probably null Het
Parg T C 14: 32,271,622 probably benign Het
Rad51ap2 A G 12: 11,458,138 D687G probably benign Het
Sh3bp1 T G 15: 78,907,992 S450A probably damaging Het
Skap2 T C 6: 51,996,034 D90G possibly damaging Het
Smc5 C T 19: 23,228,184 R796H probably damaging Het
Tdrd12 A C 7: 35,521,923 I146S probably damaging Het
Tinf2 T C 14: 55,680,906 probably benign Het
Trio G A 15: 27,741,033 T2702I probably benign Het
Vmn1r88 T A 7: 13,178,302 M195K probably benign Het
Vmn2r110 T C 17: 20,573,860 H849R probably benign Het
Vmn2r4 C T 3: 64,391,010 G566R probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdpcp A G 11: 21,711,630 T301A probably damaging Het
Other mutations in Dscc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01121:Dscc1 APN 15 55082325 splice site probably benign
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 On2014-05-07