Incidental Mutation 'IGL03039:Esco2'
ID |
408818 |
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 # |
IGL03039
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
66056476-66071418 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66068867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 148
(K148E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022613]
[ENSMUST00000225853]
|
AlphaFold |
Q8CIB9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022613
AA Change: K148E
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022613 Gene: ENSMUSG00000022034 AA Change: K148E
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
T |
C |
12: 113,454,502 (GRCm39) |
C440R |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,631,566 (GRCm39) |
D308G |
possibly damaging |
Het |
Cfh |
G |
T |
1: 140,063,999 (GRCm39) |
Q408K |
possibly damaging |
Het |
Chrna7 |
A |
G |
7: 62,798,340 (GRCm39) |
L114P |
probably damaging |
Het |
Defa35 |
G |
A |
8: 21,555,839 (GRCm39) |
C66Y |
probably damaging |
Het |
Dnah12 |
C |
A |
14: 26,445,667 (GRCm39) |
Q743K |
probably benign |
Het |
Elapor2 |
A |
G |
5: 9,468,055 (GRCm39) |
E241G |
probably benign |
Het |
Gm17079 |
T |
A |
14: 51,930,518 (GRCm39) |
E109V |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,818,769 (GRCm39) |
|
probably benign |
Het |
Igkv1-88 |
T |
C |
6: 68,839,276 (GRCm39) |
Y112C |
possibly damaging |
Het |
Igkv4-50 |
T |
C |
6: 69,678,042 (GRCm39) |
R21G |
probably benign |
Het |
Kbtbd11 |
A |
G |
8: 15,077,467 (GRCm39) |
D22G |
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,781,435 (GRCm39) |
D769G |
probably benign |
Het |
Kdm2b |
C |
A |
5: 123,019,734 (GRCm39) |
W817L |
probably benign |
Het |
Myo18b |
A |
G |
5: 112,988,637 (GRCm39) |
V983A |
probably damaging |
Het |
Nr1d2 |
A |
T |
14: 18,215,184 (GRCm38) |
M276K |
probably benign |
Het |
Or10ag59 |
T |
A |
2: 87,405,536 (GRCm39) |
M36K |
probably benign |
Het |
Or2ak7 |
T |
A |
11: 58,574,837 (GRCm39) |
V46D |
probably damaging |
Het |
Phf20 |
T |
C |
2: 156,140,461 (GRCm39) |
Y712H |
probably damaging |
Het |
Phkg2 |
T |
A |
7: 127,178,866 (GRCm39) |
Y27* |
probably null |
Het |
Pomt2 |
C |
A |
12: 87,157,140 (GRCm39) |
L726F |
probably benign |
Het |
Setd3 |
T |
C |
12: 108,129,229 (GRCm39) |
|
probably null |
Het |
Skint4 |
T |
C |
4: 111,981,847 (GRCm39) |
V272A |
probably benign |
Het |
Slc41a2 |
A |
G |
10: 83,119,722 (GRCm39) |
Y347H |
probably benign |
Het |
Slc45a2 |
T |
C |
15: 11,012,773 (GRCm39) |
S259P |
probably benign |
Het |
Tgfbr3 |
A |
C |
5: 107,325,665 (GRCm39) |
|
probably benign |
Het |
Tgfbrap1 |
A |
T |
1: 43,115,088 (GRCm39) |
I4N |
possibly damaging |
Het |
Trh |
C |
A |
6: 92,220,709 (GRCm39) |
R51L |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,975,013 (GRCm39) |
V312E |
probably damaging |
Het |
Wdfy2 |
T |
C |
14: 63,186,169 (GRCm39) |
V268A |
probably benign |
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 |
IGL02148:Esco2
|
APN |
14 |
66,064,044 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2016-08-02 |