Incidental Mutation 'R9750:Esco1'
ID |
732489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Esco1
|
Ensembl Gene |
ENSMUSG00000024293 |
Gene Name |
establishment of sister chromatid cohesion N-acetyltransferase 1 |
Synonyms |
A930014I12Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.346)
|
Stock # |
R9750 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
10566507-10610352 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10594510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 259
(S259P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025142
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025142]
[ENSMUST00000097670]
[ENSMUST00000115864]
|
AlphaFold |
Q69Z69 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025142
AA Change: S259P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000025142 Gene: ENSMUSG00000024293 AA Change: S259P
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.9%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
G |
T |
11: 50,494,333 (GRCm39) |
V136L |
probably benign |
Het |
Adamtsl3 |
G |
T |
7: 82,244,589 (GRCm39) |
L1348F |
probably benign |
Het |
Amotl1 |
T |
A |
9: 14,504,102 (GRCm39) |
T369S |
probably benign |
Het |
Anapc2 |
T |
G |
2: 25,174,982 (GRCm39) |
V700G |
possibly damaging |
Het |
Aox3 |
C |
T |
1: 58,215,648 (GRCm39) |
Q1027* |
probably null |
Het |
Ap5m1 |
A |
G |
14: 49,317,756 (GRCm39) |
T338A |
probably benign |
Het |
Carf |
T |
A |
1: 60,171,158 (GRCm39) |
Y240* |
probably null |
Het |
Ccl21a |
G |
A |
4: 42,773,875 (GRCm39) |
A15V |
probably benign |
Het |
Dcst1 |
A |
T |
3: 89,261,462 (GRCm39) |
I429N |
probably damaging |
Het |
Esp15 |
A |
G |
17: 39,955,603 (GRCm39) |
M57V |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,915,157 (GRCm39) |
I1597T |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,674,061 (GRCm39) |
S7G |
probably benign |
Het |
Gm11562 |
G |
A |
11: 99,510,856 (GRCm39) |
P115S |
unknown |
Het |
Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
Kansl1l |
G |
C |
1: 66,817,150 (GRCm39) |
I403M |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,747,499 (GRCm39) |
H1505R |
unknown |
Het |
Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
Lpgat1 |
T |
A |
1: 191,510,587 (GRCm39) |
F391I |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
Mon1a |
T |
A |
9: 107,778,778 (GRCm39) |
V334E |
probably damaging |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,117,659 (GRCm39) |
|
probably null |
Het |
Obscn |
G |
A |
11: 59,024,682 (GRCm39) |
R453W |
probably benign |
Het |
Or1d2 |
A |
G |
11: 74,255,858 (GRCm39) |
D121G |
possibly damaging |
Het |
Pdzd8 |
A |
G |
19: 59,289,684 (GRCm39) |
V572A |
probably benign |
Het |
Pgr |
T |
C |
9: 8,901,918 (GRCm39) |
S484P |
possibly damaging |
Het |
Pygl |
G |
T |
12: 70,245,303 (GRCm39) |
S473R |
possibly damaging |
Het |
Samd1 |
T |
C |
8: 84,725,989 (GRCm39) |
V410A |
probably damaging |
Het |
Serpina3j |
T |
G |
12: 104,280,942 (GRCm39) |
H38Q |
probably benign |
Het |
Shprh |
A |
G |
10: 11,040,204 (GRCm39) |
Y559C |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,727,866 (GRCm39) |
D426V |
unknown |
Het |
Slc25a21 |
T |
C |
12: 56,785,382 (GRCm39) |
K158R |
probably benign |
Het |
Smc1b |
A |
T |
15: 85,016,106 (GRCm39) |
N11K |
probably damaging |
Het |
St18 |
T |
C |
1: 6,873,216 (GRCm39) |
V317A |
probably benign |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Tcap |
A |
G |
11: 98,275,228 (GRCm39) |
T121A |
probably benign |
Het |
Tgs1 |
C |
A |
4: 3,585,869 (GRCm39) |
Q249K |
probably damaging |
Het |
Tiam1 |
A |
T |
16: 89,695,394 (GRCm39) |
L21Q |
probably damaging |
Het |
Tmem131l |
G |
A |
3: 83,831,358 (GRCm39) |
A858V |
probably damaging |
Het |
Trpm3 |
G |
A |
19: 22,903,495 (GRCm39) |
R927H |
probably benign |
Het |
Wdfy3 |
T |
A |
5: 102,077,960 (GRCm39) |
H870L |
probably benign |
Het |
Zfp518a |
T |
A |
19: 40,903,889 (GRCm39) |
C1273S |
possibly damaging |
Het |
Zfp960 |
A |
T |
17: 17,307,898 (GRCm39) |
H204L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAGCGCACATCCTGGTTG -3'
(R):5'- TTCTCCCAAAGGAAAGAAGCG -3'
Sequencing Primer
(F):5'- TCAGCATCGGTCCCTTGCAG -3'
(R):5'- GCGCAAAGTACAGCATCAG -3'
|
Posted On |
2022-11-14 |