Incidental Mutation 'IGL01376:Esco1'
ID |
78721 |
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: 0.408)
|
Stock # |
IGL01376
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
10566507-10610352 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 10594892 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 131
(C131*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025142
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025142]
[ENSMUST00000097670]
[ENSMUST00000115864]
|
AlphaFold |
Q69Z69 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025142
AA Change: C131*
|
SMART Domains |
Protein: ENSMUSP00000025142 Gene: ENSMUSG00000024293 AA Change: C131*
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 benign
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 benign
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
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
A |
T |
2: 35,245,640 (GRCm39) |
I61K |
probably benign |
Het |
Acot12 |
A |
G |
13: 91,932,790 (GRCm39) |
Y521C |
probably damaging |
Het |
Anxa7 |
T |
C |
14: 20,510,524 (GRCm39) |
N313D |
probably benign |
Het |
Cdk14 |
T |
C |
5: 5,060,839 (GRCm39) |
I327M |
probably damaging |
Het |
Clca3b |
T |
C |
3: 144,531,812 (GRCm39) |
N664S |
possibly damaging |
Het |
Cpb1 |
A |
C |
3: 20,324,488 (GRCm39) |
L62R |
probably benign |
Het |
Cracdl |
A |
G |
1: 37,667,425 (GRCm39) |
L207P |
probably damaging |
Het |
Eef2 |
G |
A |
10: 81,013,883 (GRCm39) |
|
probably benign |
Het |
Enox1 |
T |
C |
14: 77,489,283 (GRCm39) |
|
probably benign |
Het |
Etv1 |
A |
T |
12: 38,907,039 (GRCm39) |
D347V |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,479,878 (GRCm39) |
I2975V |
probably benign |
Het |
Ghsr |
A |
G |
3: 27,425,977 (GRCm39) |
E11G |
probably benign |
Het |
Gins4 |
T |
C |
8: 23,717,343 (GRCm39) |
D166G |
probably benign |
Het |
Iglv2 |
G |
T |
16: 19,079,315 (GRCm39) |
H62N |
possibly damaging |
Het |
Irf2bp1 |
T |
C |
7: 18,739,952 (GRCm39) |
S531P |
possibly damaging |
Het |
Lrig3 |
T |
A |
10: 125,830,335 (GRCm39) |
F144L |
probably benign |
Het |
Magi1 |
C |
T |
6: 94,260,074 (GRCm39) |
R77Q |
possibly damaging |
Het |
Mlkl |
A |
G |
8: 112,046,379 (GRCm39) |
L298P |
probably damaging |
Het |
Ndc1 |
T |
C |
4: 107,232,394 (GRCm39) |
L193P |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,091,369 (GRCm39) |
T308S |
probably benign |
Het |
Nt5dc3 |
A |
T |
10: 86,670,028 (GRCm39) |
Q541L |
probably benign |
Het |
Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
Or8k37 |
A |
C |
2: 86,469,953 (GRCm39) |
V33G |
probably benign |
Het |
Parp10 |
G |
T |
15: 76,125,877 (GRCm39) |
T437K |
probably benign |
Het |
Phf3 |
A |
G |
1: 30,869,566 (GRCm39) |
V494A |
possibly damaging |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Sars2 |
T |
A |
7: 28,449,308 (GRCm39) |
Y307N |
probably damaging |
Het |
Serping1 |
A |
T |
2: 84,600,529 (GRCm39) |
V271E |
probably damaging |
Het |
Sgpl1 |
G |
A |
10: 60,949,849 (GRCm39) |
P117S |
probably damaging |
Het |
Slc38a1 |
A |
C |
15: 96,483,437 (GRCm39) |
L297R |
probably damaging |
Het |
Strbp |
A |
G |
2: 37,535,663 (GRCm39) |
M15T |
probably damaging |
Het |
Tdp2 |
A |
G |
13: 25,020,932 (GRCm39) |
|
probably null |
Het |
Tex10 |
T |
C |
4: 48,456,740 (GRCm39) |
Y657C |
possibly damaging |
Het |
Xrcc4 |
A |
T |
13: 90,210,169 (GRCm39) |
S92T |
probably benign |
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 |
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 |
2013-11-05 |