Incidental Mutation 'IGL02148:Esco2'
ID |
281860 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Esco2
|
Ensembl Gene |
ENSMUSG00000022034 |
Gene Name |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
Synonyms |
2410004I17Rik, D030072L07Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02148
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
66056476-66071418 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66064044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 380
(H380R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022613]
[ENSMUST00000225853]
|
AlphaFold |
Q8CIB9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022613
AA Change: H380R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000022613 Gene: ENSMUSG00000022034 AA Change: H380R
Domain | Start | End | E-Value | Type |
low complexity region
|
139 |
156 |
N/A |
INTRINSIC |
low complexity region
|
229 |
243 |
N/A |
INTRINSIC |
Pfam:zf-C2H2_3
|
371 |
410 |
1.6e-18 |
PFAM |
Pfam:Acetyltransf_13
|
520 |
588 |
2e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136920
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225853
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation associated with impaired chromosome cohesion and abnormal mitosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
C |
T |
4: 63,300,716 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
C |
4: 126,733,469 (GRCm39) |
V663A |
possibly damaging |
Het |
Cdh13 |
A |
G |
8: 119,925,697 (GRCm39) |
D355G |
probably damaging |
Het |
Cdyl2 |
A |
G |
8: 117,315,983 (GRCm39) |
|
probably benign |
Het |
Csnk1g3 |
C |
T |
18: 54,086,360 (GRCm39) |
R422C |
probably benign |
Het |
Dclk1 |
T |
A |
3: 55,407,520 (GRCm39) |
V233D |
probably damaging |
Het |
Ddx59 |
T |
C |
1: 136,361,565 (GRCm39) |
S477P |
probably damaging |
Het |
Epb41l1 |
A |
T |
2: 156,353,748 (GRCm39) |
|
probably benign |
Het |
Epha2 |
T |
C |
4: 141,045,835 (GRCm39) |
L453P |
probably damaging |
Het |
Fbxo38 |
T |
C |
18: 62,669,298 (GRCm39) |
M51V |
probably benign |
Het |
Fgb |
T |
C |
3: 82,950,594 (GRCm39) |
M387V |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,233,302 (GRCm39) |
L1522S |
probably benign |
Het |
Gdf9 |
T |
A |
11: 53,327,569 (GRCm39) |
M175K |
probably benign |
Het |
Gm20547 |
C |
T |
17: 35,079,524 (GRCm39) |
D243N |
probably benign |
Het |
Gramd1b |
T |
A |
9: 40,227,060 (GRCm39) |
D299V |
probably damaging |
Het |
Gsg1l |
G |
T |
7: 125,522,671 (GRCm39) |
Q186K |
possibly damaging |
Het |
H2bl1 |
A |
T |
13: 99,120,691 (GRCm39) |
F112I |
probably damaging |
Het |
Katnip |
A |
T |
7: 125,472,648 (GRCm39) |
|
probably null |
Het |
Kcnh5 |
A |
G |
12: 74,944,426 (GRCm39) |
L941P |
possibly damaging |
Het |
Lrrc8d |
A |
G |
5: 105,960,253 (GRCm39) |
D221G |
possibly damaging |
Het |
Med19 |
T |
C |
2: 84,515,603 (GRCm39) |
F96L |
probably damaging |
Het |
Mei1 |
C |
A |
15: 81,976,912 (GRCm39) |
S589* |
probably null |
Het |
Myh15 |
G |
T |
16: 48,936,678 (GRCm39) |
D708Y |
probably damaging |
Het |
Naca |
C |
T |
10: 127,879,753 (GRCm39) |
|
probably benign |
Het |
Or5d43 |
A |
T |
2: 88,104,566 (GRCm39) |
Y276N |
possibly damaging |
Het |
Otog |
G |
A |
7: 45,950,011 (GRCm39) |
C306Y |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,607,369 (GRCm39) |
K1279E |
probably damaging |
Het |
Pkd1 |
C |
T |
17: 24,798,810 (GRCm39) |
T369I |
probably damaging |
Het |
Plekha8 |
A |
G |
6: 54,592,271 (GRCm39) |
S32G |
probably damaging |
Het |
Pramel25 |
T |
A |
4: 143,519,304 (GRCm39) |
Y22N |
probably benign |
Het |
Sema4g |
A |
G |
19: 44,984,908 (GRCm39) |
T113A |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,922,562 (GRCm39) |
M546T |
probably benign |
Het |
Slc27a5 |
A |
G |
7: 12,728,878 (GRCm39) |
V328A |
probably damaging |
Het |
Spef1 |
T |
C |
2: 131,014,688 (GRCm39) |
N78S |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,555,388 (GRCm39) |
T179A |
probably damaging |
Het |
Tmc5 |
T |
C |
7: 118,244,547 (GRCm39) |
I475T |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,400,488 (GRCm38) |
Y621C |
probably damaging |
Het |
Ttf1 |
T |
C |
2: 28,969,438 (GRCm39) |
F727L |
probably benign |
Het |
Tufm |
T |
C |
7: 126,088,332 (GRCm39) |
L75P |
probably damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,128,796 (GRCm39) |
D146E |
probably damaging |
Het |
Usp15 |
G |
A |
10: 122,963,742 (GRCm39) |
T533I |
probably damaging |
Het |
Vmn1r113 |
A |
G |
7: 20,521,747 (GRCm39) |
T180A |
probably benign |
Het |
Vmn1r205 |
G |
T |
13: 22,776,395 (GRCm39) |
P236T |
probably damaging |
Het |
Vmn2r112 |
T |
G |
17: 22,838,013 (GRCm39) |
C825G |
probably damaging |
Het |
Zfp712 |
T |
A |
13: 67,190,222 (GRCm39) |
I102F |
probably damaging |
Het |
|
Other mutations in Esco2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01569:Esco2
|
APN |
14 |
66,063,977 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01613:Esco2
|
APN |
14 |
66,064,044 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL03039:Esco2
|
APN |
14 |
66,068,867 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4508001:Esco2
|
UTSW |
14 |
66,068,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R0400:Esco2
|
UTSW |
14 |
66,069,155 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0894:Esco2
|
UTSW |
14 |
66,064,726 (GRCm39) |
missense |
probably benign |
0.35 |
R1778:Esco2
|
UTSW |
14 |
66,068,711 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1795:Esco2
|
UTSW |
14 |
66,064,726 (GRCm39) |
missense |
probably benign |
0.35 |
R1962:Esco2
|
UTSW |
14 |
66,068,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R2325:Esco2
|
UTSW |
14 |
66,064,027 (GRCm39) |
splice site |
probably null |
|
R2357:Esco2
|
UTSW |
14 |
66,064,000 (GRCm39) |
missense |
probably benign |
0.32 |
R2369:Esco2
|
UTSW |
14 |
66,059,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R4659:Esco2
|
UTSW |
14 |
66,064,035 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5648:Esco2
|
UTSW |
14 |
66,068,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R5873:Esco2
|
UTSW |
14 |
66,061,640 (GRCm39) |
missense |
probably benign |
0.00 |
R6782:Esco2
|
UTSW |
14 |
66,057,465 (GRCm39) |
missense |
probably benign |
0.00 |
R6877:Esco2
|
UTSW |
14 |
66,068,494 (GRCm39) |
missense |
probably benign |
0.01 |
R7116:Esco2
|
UTSW |
14 |
66,064,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R7572:Esco2
|
UTSW |
14 |
66,068,641 (GRCm39) |
missense |
probably damaging |
0.97 |
R7645:Esco2
|
UTSW |
14 |
66,064,630 (GRCm39) |
missense |
probably benign |
0.08 |
R8055:Esco2
|
UTSW |
14 |
66,069,168 (GRCm39) |
missense |
probably benign |
0.20 |
R8072:Esco2
|
UTSW |
14 |
66,070,130 (GRCm39) |
missense |
probably benign |
|
R8483:Esco2
|
UTSW |
14 |
66,069,118 (GRCm39) |
missense |
probably benign |
0.00 |
R9244:Esco2
|
UTSW |
14 |
66,059,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R9478:Esco2
|
UTSW |
14 |
66,068,657 (GRCm39) |
nonsense |
probably null |
|
R9498:Esco2
|
UTSW |
14 |
66,068,752 (GRCm39) |
missense |
probably benign |
0.00 |
R9728:Esco2
|
UTSW |
14 |
66,069,069 (GRCm39) |
missense |
probably benign |
|
Z1177:Esco2
|
UTSW |
14 |
66,062,385 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2015-04-16 |