Incidental Mutation 'R6633:Esco1'
| ID |
525357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esco1
|
| Ensembl Gene |
ENSMUSG00000024293 |
| Gene Name |
establishment of sister chromatid cohesion N-acetyltransferase 1 |
| Synonyms |
A930014I12Rik |
| MMRRC Submission |
044755-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
R6633 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
10566507-10610352 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 10595738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025142]
[ENSMUST00000097670]
[ENSMUST00000115864]
|
| AlphaFold |
Q69Z69 |
| Predicted Effect |
probably benign
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 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 |
unknown
Transcript: ENSMUST00000115864
AA Change: Q6L
|
| SMART Domains |
Protein: ENSMUSP00000111530
Gene: ENSMUSG00000024293
AA Change: Q6L
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
C |
A |
11: 84,402,308 (GRCm39) |
|
probably null |
Het |
| Acot7 |
C |
T |
4: 152,262,716 (GRCm39) |
P30L |
probably benign |
Het |
| Adam24 |
T |
G |
8: 41,133,526 (GRCm39) |
D331E |
probably benign |
Het |
| Adamdec1 |
T |
C |
14: 68,810,601 (GRCm39) |
D185G |
probably benign |
Het |
| Adgrg7 |
T |
C |
16: 56,550,649 (GRCm39) |
I688V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,450 (GRCm39) |
I172V |
probably benign |
Het |
| Anapc4 |
C |
T |
5: 53,023,288 (GRCm39) |
H710Y |
possibly damaging |
Het |
| Arf1 |
T |
C |
11: 59,103,370 (GRCm39) |
N179S |
probably benign |
Het |
| Arhgef40 |
C |
T |
14: 52,234,888 (GRCm39) |
P1064S |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,305 (GRCm39) |
N362S |
possibly damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,915,271 (GRCm39) |
F9S |
possibly damaging |
Het |
| Ccdc96 |
G |
A |
5: 36,642,533 (GRCm39) |
E180K |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,773,605 (GRCm39) |
N241K |
probably benign |
Het |
| Cdk8 |
C |
A |
5: 146,235,656 (GRCm39) |
S261* |
probably null |
Het |
| Csf2rb2 |
T |
C |
15: 78,173,152 (GRCm39) |
E236G |
probably benign |
Het |
| Dgcr8 |
A |
T |
16: 18,102,046 (GRCm39) |
S79T |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,293,933 (GRCm39) |
Y1346F |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,731,627 (GRCm39) |
V1194A |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,732,799 (GRCm39) |
S1129P |
probably damaging |
Het |
| Ephb2 |
C |
G |
4: 136,411,307 (GRCm39) |
S451T |
probably benign |
Het |
| Fcer1a |
C |
G |
1: 173,054,293 (GRCm39) |
|
probably null |
Het |
| Gbx2 |
TCCCCC |
TCCCCCC |
1: 89,856,442 (GRCm39) |
|
probably null |
Het |
| Gm44511 |
T |
A |
6: 128,803,205 (GRCm39) |
D2V |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,561,363 (GRCm39) |
T19A |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,346,534 (GRCm39) |
E1967* |
probably null |
Het |
| Hic1 |
G |
T |
11: 75,060,324 (GRCm39) |
H8N |
unknown |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Jarid2 |
C |
A |
13: 45,038,353 (GRCm39) |
H84N |
probably damaging |
Het |
| Klk1b27 |
A |
T |
7: 43,705,234 (GRCm39) |
I134F |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,732,600 (GRCm39) |
Y150C |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp10 |
T |
C |
14: 54,706,531 (GRCm39) |
V489A |
probably benign |
Het |
| Mrgpra6 |
A |
G |
7: 46,838,493 (GRCm39) |
I235T |
possibly damaging |
Het |
| Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,593 (GRCm39) |
R1137Q |
probably benign |
Het |
| Or4c12 |
T |
C |
2: 89,773,710 (GRCm39) |
I250V |
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,947,168 (GRCm39) |
I1016V |
probably benign |
Het |
| Plekhb1 |
A |
G |
7: 100,294,846 (GRCm39) |
Y122H |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Ppp6r2 |
G |
A |
15: 89,137,458 (GRCm39) |
|
probably null |
Het |
| Rag1 |
T |
A |
2: 101,473,055 (GRCm39) |
R696W |
probably damaging |
Het |
| Rusc2 |
T |
C |
4: 43,414,852 (GRCm39) |
F53L |
probably damaging |
Het |
| Rxylt1 |
G |
A |
10: 121,932,958 (GRCm39) |
R7W |
probably damaging |
Het |
| Tango6 |
T |
C |
8: 107,444,637 (GRCm39) |
V514A |
probably benign |
Het |
| Tex30 |
A |
C |
1: 44,127,084 (GRCm39) |
H64Q |
probably benign |
Het |
| Tmbim7 |
A |
G |
5: 3,707,659 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
A |
G |
5: 120,682,529 (GRCm39) |
M493T |
probably benign |
Het |
| Tpx2 |
T |
G |
2: 152,709,274 (GRCm39) |
F35V |
probably damaging |
Het |
| Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
| Wnt2b |
T |
C |
3: 104,858,372 (GRCm39) |
Y299C |
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 |
|
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'- CTGGATAGGGAAATGAAAATCTGCAG -3'
(R):5'- TCTTGTGGGAAAAGAACTGTAAGT -3'
Sequencing Primer
(F):5'- GGGAAATGAAAATCTGCAGAAAATTC -3'
(R):5'- GAATCTGGGTTCAATGTCTAGCACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation