Incidental Mutation 'R5128:Esco1'
| ID |
394882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esco1
|
| Ensembl Gene |
ENSMUSG00000024293 |
| Gene Name |
establishment of sister chromatid cohesion N-acetyltransferase 1 |
| Synonyms |
A930014I12Rik |
| MMRRC Submission |
042716-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.408)
|
| Stock # |
R5128 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
10566507-10610352 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to T
at 10567468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025142]
[ENSMUST00000048977]
[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: ENSMUST00000048977
|
| SMART Domains |
Protein: ENSMUSP00000049003
Gene: ENSMUSG00000042942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GREB1
|
1 |
1172 |
N/A |
PFAM |
|
Pfam:GREB1
|
1154 |
1913 |
N/A |
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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (48/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,639,070 (GRCm39) |
S958P |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,994,451 (GRCm39) |
L5245P |
probably damaging |
Het |
| Alg5 |
T |
A |
3: 54,649,558 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
A |
G |
2: 128,501,837 (GRCm39) |
V735A |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,866,793 (GRCm39) |
T1099A |
probably benign |
Het |
| Cacna1e |
A |
C |
1: 154,277,767 (GRCm39) |
S2062A |
probably damaging |
Het |
| Chrna9 |
A |
G |
5: 66,128,565 (GRCm39) |
S258G |
probably benign |
Het |
| Ctcfl |
T |
C |
2: 172,959,189 (GRCm39) |
E179G |
probably benign |
Het |
| Dcdc2a |
C |
A |
13: 25,286,512 (GRCm39) |
A145E |
probably damaging |
Het |
| Dgkz |
A |
G |
2: 91,773,028 (GRCm39) |
I343T |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,018,152 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
T |
C |
6: 83,037,548 (GRCm39) |
L374P |
probably damaging |
Het |
| Entpd5 |
A |
T |
12: 84,441,464 (GRCm39) |
F101L |
probably benign |
Het |
| Fgf1 |
C |
A |
18: 38,975,078 (GRCm39) |
V124L |
probably benign |
Het |
| Gm16380 |
C |
T |
9: 53,791,397 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
G |
A |
6: 64,642,982 (GRCm39) |
A915T |
probably benign |
Het |
| Inhbc |
A |
T |
10: 127,193,611 (GRCm39) |
M135K |
probably benign |
Het |
| Mertk |
C |
A |
2: 128,580,167 (GRCm39) |
T207K |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,983,187 (GRCm39) |
T498I |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,167,034 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
G |
T |
11: 71,170,421 (GRCm39) |
|
noncoding transcript |
Het |
| Nphp4 |
T |
A |
4: 152,587,448 (GRCm39) |
I267N |
probably benign |
Het |
| Obox8 |
A |
G |
7: 14,066,015 (GRCm39) |
W168R |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,248 (GRCm39) |
V188E |
probably damaging |
Het |
| Or4a74 |
A |
T |
2: 89,439,647 (GRCm39) |
D266E |
probably damaging |
Het |
| Or8c8 |
T |
C |
9: 38,164,866 (GRCm39) |
L48P |
probably damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,570,262 (GRCm39) |
|
probably benign |
Het |
| Palld |
T |
C |
8: 62,173,622 (GRCm39) |
T346A |
probably damaging |
Het |
| Pip4k2b |
A |
G |
11: 97,609,702 (GRCm39) |
S412P |
probably benign |
Het |
| Potefam1 |
G |
A |
2: 110,994,674 (GRCm39) |
Q251* |
probably null |
Het |
| Scn3a |
T |
C |
2: 65,338,862 (GRCm39) |
S606G |
probably benign |
Het |
| Slc12a7 |
G |
T |
13: 73,953,552 (GRCm39) |
S754I |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,081,736 (GRCm39) |
*489R |
probably null |
Het |
| Tnn |
A |
T |
1: 159,950,464 (GRCm39) |
V714E |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
| Ttc16 |
T |
A |
2: 32,653,009 (GRCm39) |
I550F |
probably benign |
Het |
| Vit |
T |
C |
17: 78,932,575 (GRCm39) |
S561P |
probably damaging |
Het |
| Zdhhc1 |
T |
A |
8: 106,210,268 (GRCm39) |
I50F |
probably benign |
Het |
| Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
| Zfp597 |
G |
A |
16: 3,689,988 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACTATGAACAATTATCTGCTGC -3'
(R):5'- CTATGACAAGGTGTTGGGCAAATG -3'
Sequencing Primer
(F):5'- GAACAATTATCTGCTGCATGTAAAC -3'
(R):5'- GACGGAAAGCTGTTTGCA -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation