Incidental Mutation 'IGL01121:Dscc1'
ID |
52828 |
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: 0.954)
|
Stock # |
IGL01121
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
54939497-54953887 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 54945721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700046A07Rik |
G |
A |
18: 62,888,219 (GRCm39) |
|
noncoding transcript |
Het |
4930432E11Rik |
A |
T |
7: 29,273,426 (GRCm39) |
|
noncoding transcript |
Het |
Alg3 |
T |
C |
16: 20,429,397 (GRCm39) |
E31G |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,803,512 (GRCm39) |
E764G |
probably damaging |
Het |
Atp5mf |
C |
A |
5: 145,121,378 (GRCm39) |
V68L |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,938,033 (GRCm39) |
I2645K |
probably benign |
Het |
Capn11 |
A |
G |
17: 45,950,058 (GRCm39) |
S369P |
probably benign |
Het |
Car4 |
A |
T |
11: 84,855,172 (GRCm39) |
|
probably null |
Het |
Ccdc185 |
C |
T |
1: 182,576,222 (GRCm39) |
V156I |
probably benign |
Het |
Cpsf2 |
G |
T |
12: 101,954,965 (GRCm39) |
E245D |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,014,430 (GRCm39) |
D2019G |
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,765,244 (GRCm39) |
D490G |
probably benign |
Het |
E2f8 |
G |
A |
7: 48,517,569 (GRCm39) |
Q745* |
probably null |
Het |
Fat3 |
T |
A |
9: 15,909,697 (GRCm39) |
T2102S |
probably benign |
Het |
Fgf7 |
C |
T |
2: 125,930,152 (GRCm39) |
|
probably benign |
Het |
Fstl4 |
T |
C |
11: 52,705,464 (GRCm39) |
F47L |
probably benign |
Het |
Gm15097 |
A |
T |
X: 148,587,324 (GRCm39) |
R129S |
possibly damaging |
Het |
Gm4297 |
C |
T |
X: 24,418,854 (GRCm39) |
D200N |
probably benign |
Het |
Itgb5 |
G |
T |
16: 33,740,359 (GRCm39) |
D490Y |
probably benign |
Het |
Kansl1 |
A |
G |
11: 104,226,422 (GRCm39) |
S912P |
probably benign |
Het |
Kcnq3 |
A |
T |
15: 65,877,826 (GRCm39) |
|
probably benign |
Het |
Kctd6 |
A |
G |
14: 8,222,656 (GRCm38) |
H166R |
possibly damaging |
Het |
Kel |
T |
C |
6: 41,679,343 (GRCm39) |
D140G |
probably benign |
Het |
Lrif1 |
C |
A |
3: 106,642,980 (GRCm39) |
S177* |
probably null |
Het |
Lrp1 |
A |
T |
10: 127,419,722 (GRCm39) |
C962* |
probably null |
Het |
Lypd5 |
A |
T |
7: 24,050,976 (GRCm39) |
Y29F |
probably benign |
Het |
Mmrn1 |
A |
G |
6: 60,952,928 (GRCm39) |
D403G |
possibly damaging |
Het |
Nhsl1 |
T |
G |
10: 18,387,458 (GRCm39) |
V244G |
probably damaging |
Het |
Or6c35 |
T |
C |
10: 129,168,804 (GRCm39) |
I18T |
probably benign |
Het |
Ptprd |
A |
T |
4: 75,872,438 (GRCm39) |
|
probably benign |
Het |
Rcan2 |
A |
T |
17: 44,328,775 (GRCm39) |
I69L |
probably damaging |
Het |
Rprd2 |
A |
G |
3: 95,683,862 (GRCm39) |
L373P |
probably damaging |
Het |
Slc10a4 |
T |
C |
5: 73,164,929 (GRCm39) |
C174R |
probably damaging |
Het |
Tas2r134 |
C |
T |
2: 51,518,001 (GRCm39) |
T160I |
probably damaging |
Het |
Tbc1d19 |
T |
A |
5: 54,054,404 (GRCm39) |
L464* |
probably null |
Het |
Tmem45a2 |
C |
T |
16: 56,861,153 (GRCm39) |
D225N |
possibly damaging |
Het |
Unc79 |
G |
A |
12: 103,131,890 (GRCm39) |
C2139Y |
probably damaging |
Het |
Vmn2r101 |
G |
T |
17: 19,809,936 (GRCm39) |
G241C |
probably damaging |
Het |
Vmn2r91 |
T |
C |
17: 18,356,766 (GRCm39) |
V811A |
possibly damaging |
Het |
Wdr11 |
T |
C |
7: 129,229,746 (GRCm39) |
Y844H |
probably benign |
Het |
Wdr70 |
T |
C |
15: 7,902,655 (GRCm39) |
K656E |
possibly damaging |
Het |
Zfp579 |
C |
A |
7: 4,996,246 (GRCm39) |
C555F |
possibly damaging |
Het |
|
Other mutations in Dscc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-06-21 |