Incidental Mutation 'PIT4498001:Dscc1'
ID 556075
Institutional Source Beutler Lab
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 # PIT4498001 (G1)
Quality Score 168.009
Status Not validated
Chromosome 15
Chromosomal Location 54939497-54953887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54945711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 328 (V328D)
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: V265D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422
AA Change: V265D

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: V328D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: V328D

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
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 91.0%
  • 10x: 86.1%
  • 20x: 75.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 T C 19: 40,562,800 (GRCm39) N191S probably benign Het
Cacnb2 T A 2: 14,879,630 (GRCm39) L84* probably null Het
Cdhr2 C T 13: 54,866,052 (GRCm39) T284M possibly damaging Het
Defb45 T C 2: 152,438,394 (GRCm39) probably benign Het
Dkk3 C T 7: 111,718,679 (GRCm39) V236M probably benign Het
Epha3 T C 16: 63,372,889 (GRCm39) Y938C probably damaging Het
Erc1 A T 6: 119,756,452 (GRCm39) F435I possibly damaging Het
Fbxl5 T C 5: 43,908,323 (GRCm39) Y626C possibly damaging Het
Fmn2 A G 1: 174,440,170 (GRCm39) R1196G probably damaging Het
Gabrr1 C T 4: 33,160,225 (GRCm39) S303F probably damaging Het
Ggt1 T C 10: 75,414,689 (GRCm39) V169A possibly damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm3182 T A 14: 4,481,832 (GRCm38) C9S probably damaging Het
Gpr88 A C 3: 116,046,264 (GRCm39) S16A unknown Het
Kalrn A T 16: 33,851,952 (GRCm39) M2076K possibly damaging Het
Katnip A G 7: 125,412,768 (GRCm39) T371A probably benign Het
Kcnd3 T C 3: 105,566,025 (GRCm39) I402T probably damaging Het
Mink1 A G 11: 70,489,714 (GRCm39) D57G probably benign Het
Ncl T C 1: 86,279,162 (GRCm39) T584A possibly damaging Het
Nfx1 A T 4: 40,977,244 (GRCm39) Q306L probably benign Het
Ogdh A T 11: 6,290,504 (GRCm39) D374V probably benign Het
Or5d39 T A 2: 87,980,259 (GRCm39) T35S probably benign Het
Pak5 T A 2: 135,925,211 (GRCm39) H697L probably damaging Het
Pappa T C 4: 65,234,469 (GRCm39) C1425R probably damaging Het
Pramel26 T C 4: 143,539,406 (GRCm39) E29G possibly damaging Het
Rab3gap2 T A 1: 185,013,882 (GRCm39) I1196N probably damaging Het
Ralyl A T 3: 14,172,299 (GRCm39) D56V probably damaging Het
Scin C T 12: 40,119,446 (GRCm39) probably null Het
Slc25a19 T C 11: 115,514,781 (GRCm39) I69V possibly damaging Het
Slc8a1 G T 17: 81,956,269 (GRCm39) Y256* probably null Het
Smyd1 T C 6: 71,196,272 (GRCm39) H372R probably benign Het
St8sia1 T C 6: 142,859,848 (GRCm39) T94A probably damaging Het
Stard9 T A 2: 120,527,916 (GRCm39) M1391K possibly damaging Het
Tlr9 G A 9: 106,100,721 (GRCm39) R4H probably benign Het
Trim50 A G 5: 135,382,331 (GRCm39) D61G probably damaging Het
Ttn G A 2: 76,597,295 (GRCm39) P19873S probably damaging Het
Vmn1r228 G T 17: 20,996,772 (GRCm39) H249N probably benign Het
Vmn2r108 C T 17: 20,683,279 (GRCm39) G642S probably damaging Het
Wdr27 A G 17: 15,154,831 (GRCm39) S29P probably benign Het
Zan A G 5: 137,415,298 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- GTCAGACACCACCTGGAGAATC -3'
(R):5'- CCAATACAGTGGCAGTGAGG -3'

Sequencing Primer
(F):5'- TGGAGAATCCCAGGCACAGC -3'
(R):5'- TTTAGCCCTGCTACAAGGTGAGAAC -3'
Posted On 2019-06-07