Incidental Mutation 'R3955:Dscc1'
ID |
310666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dscc1
|
Ensembl Gene |
ENSMUSG00000022422 |
Gene Name |
DNA replication and sister chromatid cohesion 1 |
Synonyms |
2600005O03Rik, 2010006I05Rik |
MMRRC Submission |
040832-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.951)
|
Stock # |
R3955 (G1)
|
Quality Score |
140 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
54939497-54953887 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 54946949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 259
(T259A)
|
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
AA Change: T259A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000105860 Gene: ENSMUSG00000022422 AA Change: T259A
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (56/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,773,834 (GRCm39) |
T1008A |
probably benign |
Het |
Abcc5 |
G |
C |
16: 20,224,293 (GRCm39) |
H97D |
probably damaging |
Het |
Acbd7 |
T |
C |
2: 3,337,250 (GRCm39) |
S2P |
probably benign |
Het |
Acta2 |
G |
T |
19: 34,229,126 (GRCm39) |
|
probably benign |
Het |
Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
Ajm1 |
G |
T |
2: 25,467,583 (GRCm39) |
S776* |
probably null |
Het |
Ccnq |
C |
A |
11: 78,641,849 (GRCm39) |
E214* |
probably null |
Het |
Cd69 |
A |
T |
6: 129,245,343 (GRCm39) |
|
probably null |
Het |
Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
Dsg4 |
G |
A |
18: 20,582,432 (GRCm39) |
|
probably null |
Het |
Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
Insyn1 |
A |
T |
9: 58,406,906 (GRCm39) |
D272V |
probably damaging |
Het |
Krt20 |
G |
A |
11: 99,323,037 (GRCm39) |
Q262* |
probably null |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Lmod2 |
G |
T |
6: 24,603,870 (GRCm39) |
V282L |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,578,642 (GRCm39) |
I228T |
probably damaging |
Het |
Matn1 |
G |
A |
4: 130,678,726 (GRCm39) |
|
probably null |
Het |
Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
Nmt2 |
A |
G |
2: 3,313,535 (GRCm39) |
D132G |
probably benign |
Het |
Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
Obscn |
G |
A |
11: 58,927,594 (GRCm39) |
S6118F |
probably damaging |
Het |
Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
Or1j21 |
T |
A |
2: 36,683,565 (GRCm39) |
L106M |
probably benign |
Het |
Or4c12 |
T |
A |
2: 89,774,172 (GRCm39) |
M96L |
possibly damaging |
Het |
Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
Plxnb3 |
T |
C |
X: 72,814,826 (GRCm39) |
V1789A |
probably benign |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Qrfprl |
A |
T |
6: 65,430,092 (GRCm39) |
I263L |
possibly damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,862,254 (GRCm39) |
Q675R |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
Sergef |
T |
A |
7: 46,268,176 (GRCm39) |
E210V |
possibly damaging |
Het |
Sik3 |
C |
A |
9: 46,109,891 (GRCm39) |
N541K |
probably damaging |
Het |
Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
Tbc1d14 |
G |
A |
5: 36,700,559 (GRCm39) |
R270* |
probably null |
Het |
Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
Tdp2 |
C |
T |
13: 25,020,082 (GRCm39) |
T123I |
probably benign |
Het |
Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
Tmf1 |
C |
A |
6: 97,153,167 (GRCm39) |
R302L |
probably damaging |
Het |
Tnip3 |
A |
T |
6: 65,574,379 (GRCm39) |
T137S |
possibly damaging |
Het |
Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
Unc13b |
A |
G |
4: 43,256,834 (GRCm39) |
Y3962C |
probably damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
Zfp677 |
A |
G |
17: 21,618,079 (GRCm39) |
K379E |
possibly damaging |
Het |
Zfp865 |
T |
A |
7: 5,035,013 (GRCm39) |
D999E |
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 |
|
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 |
|
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'- GATGGTGCAGACGTATTCACC -3'
(R):5'- CCTCTGCAGATTTCTTTAAGACAGTG -3'
Sequencing Primer
(F):5'- GTGCAGACGTATTCACCTCAGTG -3'
(R):5'- GACAGTGAACACCTTGGAGTCATTC -3'
|
Posted On |
2015-04-29 |