Incidental Mutation 'IGL00673:Esco1'
| ID |
10542 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Esco1
|
| Ensembl Gene |
ENSMUSG00000024293 |
| Gene Name |
establishment of sister chromatid cohesion N-acetyltransferase 1 |
| Synonyms |
A930014I12Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
IGL00673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
10566507-10610352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10582078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 647
(F647L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025142]
[ENSMUST00000097670]
[ENSMUST00000115864]
|
| AlphaFold |
Q69Z69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025142
AA Change: F647L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025142
Gene: ENSMUSG00000024293
AA Change: F647L
| 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 damaging
Transcript: ENSMUST00000097670
AA Change: F148L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095274
Gene: ENSMUSG00000024293
AA Change: F148L
| 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 damaging
Transcript: ENSMUST00000115864
AA Change: F123L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111530
Gene: ENSMUSG00000024293
AA Change: F123L
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
T |
C |
9: 90,075,714 (GRCm39) |
S1191P |
possibly damaging |
Het |
| Alg2 |
C |
T |
4: 47,472,329 (GRCm39) |
D160N |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,442 (GRCm39) |
F487Y |
possibly damaging |
Het |
| Cdc27 |
A |
G |
11: 104,419,261 (GRCm39) |
Y224H |
probably damaging |
Het |
| Cdhr1 |
A |
G |
14: 36,807,485 (GRCm39) |
V385A |
probably benign |
Het |
| Cep128 |
G |
T |
12: 91,200,965 (GRCm39) |
H31Q |
probably benign |
Het |
| Ehd4 |
A |
G |
2: 119,932,701 (GRCm39) |
S242P |
probably damaging |
Het |
| Itgbl1 |
C |
T |
14: 124,083,844 (GRCm39) |
|
probably benign |
Het |
| Kcnj3 |
G |
T |
2: 55,485,284 (GRCm39) |
D461Y |
possibly damaging |
Het |
| Kcnq3 |
G |
A |
15: 65,867,120 (GRCm39) |
T841M |
probably damaging |
Het |
| Kcnt2 |
T |
G |
1: 140,523,789 (GRCm39) |
N1103K |
possibly damaging |
Het |
| Mib1 |
A |
G |
18: 10,798,490 (GRCm39) |
S784G |
probably benign |
Het |
| Miga2 |
T |
G |
2: 30,257,729 (GRCm39) |
M9R |
probably benign |
Het |
| Pals1 |
C |
A |
12: 78,876,573 (GRCm39) |
R506S |
possibly damaging |
Het |
| Prl2a1 |
T |
C |
13: 27,992,436 (GRCm39) |
S187P |
probably damaging |
Het |
| Psg28 |
A |
G |
7: 18,161,816 (GRCm39) |
V229A |
probably damaging |
Het |
| Ptdss2 |
G |
T |
7: 140,723,038 (GRCm39) |
C84F |
probably benign |
Het |
| Recql |
T |
A |
6: 142,322,647 (GRCm39) |
N85I |
probably null |
Het |
| Tex47 |
A |
T |
5: 7,355,211 (GRCm39) |
I131F |
probably damaging |
Het |
| Tlk1 |
G |
T |
2: 70,575,860 (GRCm39) |
Q323K |
probably damaging |
Het |
|
| Other mutations in Esco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6524:Esco1
|
UTSW |
18 |
10,582,188 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation