Incidental Mutation 'R6524:Esco1'
ID |
521639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Esco1
|
Ensembl Gene |
ENSMUSG00000024293 |
Gene Name |
establishment of sister chromatid cohesion N-acetyltransferase 1 |
Synonyms |
A930014I12Rik |
MMRRC Submission |
044650-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.346)
|
Stock # |
R6524 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
10566507-10610352 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to G
at 10582188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025142]
[ENSMUST00000025142]
[ENSMUST00000097670]
[ENSMUST00000097670]
[ENSMUST00000115864]
[ENSMUST00000115864]
|
AlphaFold |
Q69Z69 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025142
|
SMART Domains |
Protein: ENSMUSP00000025142 Gene: ENSMUSG00000024293
Domain | Start | End | E-Value | Type |
coiled coil region
|
8 |
32 |
N/A |
INTRINSIC |
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
low complexity region
|
322 |
338 |
N/A |
INTRINSIC |
low complexity region
|
463 |
477 |
N/A |
INTRINSIC |
Pfam:zf-C2H2_3
|
607 |
646 |
4.7e-17 |
PFAM |
Pfam:Acetyltransf_13
|
766 |
834 |
1.3e-32 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000025142
|
SMART Domains |
Protein: ENSMUSP00000025142 Gene: ENSMUSG00000024293
Domain | Start | End | E-Value | Type |
coiled coil region
|
8 |
32 |
N/A |
INTRINSIC |
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
low complexity region
|
322 |
338 |
N/A |
INTRINSIC |
low complexity region
|
463 |
477 |
N/A |
INTRINSIC |
Pfam:zf-C2H2_3
|
607 |
646 |
4.7e-17 |
PFAM |
Pfam:Acetyltransf_13
|
766 |
834 |
1.3e-32 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000097670
|
SMART Domains |
Protein: ENSMUSP00000095274 Gene: ENSMUSG00000024293
Domain | Start | End | E-Value | Type |
Pfam:zf-C2H2_3
|
108 |
148 |
1.7e-19 |
PFAM |
Pfam:Acetyltransf_13
|
266 |
335 |
4.6e-35 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000097670
|
SMART Domains |
Protein: ENSMUSP00000095274 Gene: ENSMUSG00000024293
Domain | Start | End | E-Value | Type |
Pfam:zf-C2H2_3
|
108 |
148 |
1.7e-19 |
PFAM |
Pfam:Acetyltransf_13
|
266 |
335 |
4.6e-35 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115864
|
SMART Domains |
Protein: ENSMUSP00000111530 Gene: ENSMUSG00000024293
Domain | Start | End | E-Value | Type |
Pfam:zf-C2H2_3
|
83 |
123 |
1.8e-19 |
PFAM |
Pfam:Acetyltransf_13
|
241 |
310 |
4.1e-35 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115864
|
SMART Domains |
Protein: ENSMUSP00000111530 Gene: ENSMUSG00000024293
Domain | Start | End | E-Value | Type |
Pfam:zf-C2H2_3
|
83 |
123 |
1.8e-19 |
PFAM |
Pfam:Acetyltransf_13
|
241 |
310 |
4.1e-35 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127099
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145320
|
Meta Mutation Damage Score |
0.9501 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
Validation Efficiency |
100% (44/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
G |
8: 106,435,641 (GRCm39) |
R100G |
possibly damaging |
Het |
Acin1 |
G |
T |
14: 54,882,740 (GRCm39) |
D237E |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
C3 |
A |
T |
17: 57,524,264 (GRCm39) |
|
probably null |
Het |
Dnaaf2 |
A |
T |
12: 69,237,159 (GRCm39) |
C650S |
probably benign |
Het |
Dsg2 |
T |
G |
18: 20,716,093 (GRCm39) |
F315V |
probably damaging |
Het |
Dyrk1a |
C |
T |
16: 94,485,979 (GRCm39) |
S404L |
probably benign |
Het |
Eefsec |
T |
C |
6: 88,274,902 (GRCm39) |
|
probably null |
Het |
Fam83a |
T |
C |
15: 57,858,736 (GRCm39) |
|
probably null |
Het |
Fat3 |
A |
T |
9: 15,903,552 (GRCm39) |
V2981E |
probably damaging |
Het |
H1f11-ps |
G |
A |
19: 47,158,999 (GRCm39) |
T192M |
unknown |
Het |
Heatr5b |
A |
G |
17: 79,121,535 (GRCm39) |
L730P |
possibly damaging |
Het |
Hgsnat |
A |
G |
8: 26,435,260 (GRCm39) |
S625P |
probably damaging |
Het |
Itpr1 |
C |
T |
6: 108,340,644 (GRCm39) |
T84I |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,246,709 (GRCm39) |
N1070S |
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,708,883 (GRCm39) |
F276L |
probably damaging |
Het |
Krt84 |
A |
G |
15: 101,441,187 (GRCm39) |
S2P |
unknown |
Het |
Lbhd2 |
G |
A |
12: 111,376,724 (GRCm39) |
R57H |
probably damaging |
Het |
Lcmt2 |
T |
C |
2: 120,969,412 (GRCm39) |
E337G |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 40,741,816 (GRCm39) |
E3037G |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
Med13 |
A |
G |
11: 86,192,293 (GRCm39) |
I824T |
probably damaging |
Het |
Meiob |
G |
A |
17: 25,051,491 (GRCm39) |
V291I |
probably benign |
Het |
Mtcl1 |
A |
T |
17: 66,655,280 (GRCm39) |
D1343E |
probably benign |
Het |
Mybl2 |
C |
A |
2: 162,916,450 (GRCm39) |
P367Q |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,555,891 (GRCm39) |
N1680S |
probably damaging |
Het |
Nif3l1 |
T |
C |
1: 58,496,999 (GRCm39) |
V308A |
probably benign |
Het |
Or5h23 |
C |
T |
16: 58,906,640 (GRCm39) |
V69M |
possibly damaging |
Het |
Pclo |
G |
A |
5: 14,768,883 (GRCm39) |
R4366H |
unknown |
Het |
Phax |
T |
A |
18: 56,720,074 (GRCm39) |
D338E |
probably damaging |
Het |
Pnpla6 |
T |
A |
8: 3,584,519 (GRCm39) |
|
probably null |
Het |
Rint1 |
A |
T |
5: 24,020,737 (GRCm39) |
M529L |
probably benign |
Het |
Scand1 |
C |
T |
2: 156,154,169 (GRCm39) |
|
probably benign |
Het |
Six3 |
C |
T |
17: 85,929,398 (GRCm39) |
T244I |
probably damaging |
Het |
Slc4a4 |
T |
C |
5: 89,380,623 (GRCm39) |
S1034P |
probably benign |
Het |
Ssu72 |
T |
G |
4: 155,799,997 (GRCm39) |
N53K |
probably null |
Het |
Timm44 |
T |
C |
8: 4,317,988 (GRCm39) |
D140G |
possibly damaging |
Het |
Tspan8 |
T |
C |
10: 115,679,984 (GRCm39) |
F200L |
probably benign |
Het |
Tyw5 |
A |
T |
1: 57,427,890 (GRCm39) |
V234D |
possibly damaging |
Het |
Ubxn10 |
T |
A |
4: 138,448,194 (GRCm39) |
R161* |
probably null |
Het |
Vmn2r23 |
T |
A |
6: 123,690,384 (GRCm39) |
L420Q |
probably damaging |
Het |
Wdr1 |
A |
T |
5: 38,687,406 (GRCm39) |
D208E |
probably benign |
Het |
Yif1a |
A |
G |
19: 5,142,204 (GRCm39) |
Y230C |
probably damaging |
Het |
|
Other mutations in Esco1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00673:Esco1
|
APN |
18 |
10,582,078 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01376:Esco1
|
APN |
18 |
10,594,892 (GRCm39) |
nonsense |
probably null |
|
IGL01886:Esco1
|
APN |
18 |
10,595,262 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03171:Esco1
|
APN |
18 |
10,594,263 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03233:Esco1
|
APN |
18 |
10,574,877 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4576001:Esco1
|
UTSW |
18 |
10,572,093 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4585001:Esco1
|
UTSW |
18 |
10,594,355 (GRCm39) |
nonsense |
probably null |
|
R0266:Esco1
|
UTSW |
18 |
10,594,605 (GRCm39) |
missense |
probably benign |
0.00 |
R0445:Esco1
|
UTSW |
18 |
10,574,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R0494:Esco1
|
UTSW |
18 |
10,594,940 (GRCm39) |
missense |
probably benign |
0.28 |
R0965:Esco1
|
UTSW |
18 |
10,567,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R1834:Esco1
|
UTSW |
18 |
10,594,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R2140:Esco1
|
UTSW |
18 |
10,574,873 (GRCm39) |
critical splice donor site |
probably null |
|
R2141:Esco1
|
UTSW |
18 |
10,574,873 (GRCm39) |
critical splice donor site |
probably null |
|
R2142:Esco1
|
UTSW |
18 |
10,574,873 (GRCm39) |
critical splice donor site |
probably null |
|
R4562:Esco1
|
UTSW |
18 |
10,595,074 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4668:Esco1
|
UTSW |
18 |
10,594,734 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5083:Esco1
|
UTSW |
18 |
10,594,734 (GRCm39) |
missense |
probably benign |
0.00 |
R5128:Esco1
|
UTSW |
18 |
10,567,468 (GRCm39) |
utr 3 prime |
probably benign |
|
R5407:Esco1
|
UTSW |
18 |
10,574,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R5454:Esco1
|
UTSW |
18 |
10,584,327 (GRCm39) |
missense |
probably benign |
|
R5870:Esco1
|
UTSW |
18 |
10,593,744 (GRCm39) |
critical splice donor site |
probably null |
|
R5965:Esco1
|
UTSW |
18 |
10,593,867 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6360:Esco1
|
UTSW |
18 |
10,574,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R6390:Esco1
|
UTSW |
18 |
10,567,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R6438:Esco1
|
UTSW |
18 |
10,572,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R6534:Esco1
|
UTSW |
18 |
10,594,794 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6633:Esco1
|
UTSW |
18 |
10,595,738 (GRCm39) |
intron |
probably benign |
|
R8743:Esco1
|
UTSW |
18 |
10,572,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R8877:Esco1
|
UTSW |
18 |
10,575,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R9065:Esco1
|
UTSW |
18 |
10,594,005 (GRCm39) |
missense |
probably benign |
0.00 |
R9141:Esco1
|
UTSW |
18 |
10,594,731 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9739:Esco1
|
UTSW |
18 |
10,594,218 (GRCm39) |
missense |
probably benign |
0.08 |
R9750:Esco1
|
UTSW |
18 |
10,594,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAACCACTACCTATGTATGCTTTTG -3'
(R):5'- TGGAGGACAGAGCACAACTTTATTG -3'
Sequencing Primer
(F):5'- GAACACTGGCTACTCTTGCAG -3'
(R):5'- CAGAGCACAACTTTATTGCCTTTAG -3'
|
Posted On |
2018-06-06 |