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)
|
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
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: V328D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105860 Gene: ENSMUSG00000022422 AA Change: V328D
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |