Incidental Mutation 'R8072:Esco2'
ID |
620300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Esco2
|
Ensembl Gene |
ENSMUSG00000022034 |
Gene Name |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
Synonyms |
2410004I17Rik, D030072L07Rik |
MMRRC Submission |
067507-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8072 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
66056476-66071418 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 66070130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 16
(N16K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022613]
[ENSMUST00000022614]
[ENSMUST00000225853]
|
AlphaFold |
Q8CIB9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022613
AA Change: N16K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022613 Gene: ENSMUSG00000022034 AA Change: N16K
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 |
probably benign
Transcript: ENSMUST00000022614
|
SMART Domains |
Protein: ENSMUSP00000022614 Gene: ENSMUSG00000022035
Domain | Start | End | E-Value | Type |
Pfam:DUF814
|
8 |
100 |
2.2e-31 |
PFAM |
coiled coil region
|
151 |
186 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225853
AA Change: N16K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,244,574 (GRCm39) |
S2146P |
probably benign |
Het |
Acad9 |
G |
A |
3: 36,129,404 (GRCm39) |
V160I |
probably benign |
Het |
Ace |
T |
C |
11: 105,863,785 (GRCm39) |
V411A |
probably damaging |
Het |
Ankrd66 |
T |
C |
17: 43,854,526 (GRCm39) |
E2G |
possibly damaging |
Het |
Apol6 |
A |
T |
15: 76,935,303 (GRCm39) |
T191S |
probably benign |
Het |
Arhgef17 |
T |
A |
7: 100,531,004 (GRCm39) |
T352S |
probably benign |
Het |
Atad2 |
C |
T |
15: 57,963,374 (GRCm39) |
R1081Q |
possibly damaging |
Het |
Atg3 |
G |
T |
16: 45,008,048 (GRCm39) |
V297F |
probably damaging |
Het |
Atp9b |
A |
C |
18: 80,808,276 (GRCm39) |
S663A |
|
Het |
Col10a1 |
G |
T |
10: 34,266,663 (GRCm39) |
V16F |
unknown |
Het |
Col3a1 |
G |
A |
1: 45,360,734 (GRCm39) |
V55I |
unknown |
Het |
Ctns |
T |
C |
11: 73,082,572 (GRCm39) |
T53A |
probably benign |
Het |
Cyp2b23 |
A |
T |
7: 26,365,431 (GRCm39) |
I468N |
probably damaging |
Het |
Dcbld2 |
G |
A |
16: 58,283,460 (GRCm39) |
W565* |
probably null |
Het |
Fggy |
A |
G |
4: 95,732,394 (GRCm39) |
N462D |
possibly damaging |
Het |
Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
Gm4846 |
T |
C |
1: 166,322,241 (GRCm39) |
T109A |
probably benign |
Het |
H2-M11 |
G |
T |
17: 36,859,026 (GRCm39) |
V189L |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,532,256 (GRCm39) |
T3175S |
possibly damaging |
Het |
Hook2 |
G |
A |
8: 85,721,120 (GRCm39) |
V184M |
probably benign |
Het |
Hspa4l |
A |
T |
3: 40,741,178 (GRCm39) |
D730V |
probably damaging |
Het |
Igkv4-68 |
C |
T |
6: 69,282,113 (GRCm39) |
M19I |
probably benign |
Het |
Igsf9b |
C |
A |
9: 27,228,660 (GRCm39) |
T140N |
possibly damaging |
Het |
Kcnj1 |
G |
A |
9: 32,308,593 (GRCm39) |
R339Q |
probably damaging |
Het |
Lcn8 |
T |
G |
2: 25,545,184 (GRCm39) |
L118W |
probably damaging |
Het |
Lin28a |
A |
G |
4: 133,745,453 (GRCm39) |
F47L |
possibly damaging |
Het |
Loxl4 |
T |
C |
19: 42,596,021 (GRCm39) |
E144G |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mrgprb1 |
C |
A |
7: 48,097,895 (GRCm39) |
E6* |
probably null |
Het |
Mthfsd |
A |
C |
8: 121,825,555 (GRCm39) |
Y339D |
probably damaging |
Het |
Mup11 |
A |
T |
4: 60,615,777 (GRCm39) |
F153L |
probably damaging |
Het |
Pcdhac2 |
G |
A |
18: 37,278,717 (GRCm39) |
V566M |
probably benign |
Het |
Plpp7 |
G |
T |
2: 31,986,121 (GRCm39) |
A100S |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,331,774 (GRCm39) |
T300A |
possibly damaging |
Het |
Ptprd |
A |
G |
4: 76,004,273 (GRCm39) |
F161L |
probably benign |
Het |
Pwp2 |
G |
A |
10: 78,007,930 (GRCm39) |
A875V |
possibly damaging |
Het |
Rhd |
A |
G |
4: 134,611,460 (GRCm39) |
T207A |
possibly damaging |
Het |
Sh2d3c |
C |
T |
2: 32,643,150 (GRCm39) |
R778C |
probably damaging |
Het |
Slc34a3 |
A |
C |
2: 25,119,289 (GRCm39) |
V527G |
probably benign |
Het |
Smad2 |
T |
C |
18: 76,420,022 (GRCm39) |
|
probably null |
Het |
Sp110 |
GTACT |
GTACTACT |
1: 85,515,207 (GRCm39) |
|
probably benign |
Het |
Spata21 |
C |
T |
4: 140,839,317 (GRCm39) |
Q611* |
probably null |
Het |
Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
Tial1 |
T |
C |
7: 128,044,194 (GRCm39) |
T107A |
unknown |
Het |
Ubxn6 |
C |
A |
17: 56,380,195 (GRCm39) |
R42L |
probably benign |
Het |
Vmn2r90 |
A |
T |
17: 17,947,142 (GRCm39) |
N473I |
probably damaging |
Het |
Ythdc1 |
T |
A |
5: 86,969,133 (GRCm39) |
Y351* |
probably null |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATTAGCTTGAGGCCAACCAG -3'
(R):5'- CCCTTGGGTATTTATTTGCAGTCAC -3'
Sequencing Primer
(F):5'- ACAAATCACCAAAGGGCTGG -3'
(R):5'- ACTGACATATTTGCTGCC -3'
|
Posted On |
2020-01-23 |