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)
|
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
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
AA Change: I178V
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000105860 Gene: ENSMUSG00000022422 AA Change: I178V
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |