Incidental Mutation 'R5648:Esco2'
ID |
441287 |
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 |
043169-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5648 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
66056476-66071418 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 66068641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 223
(V223D)
|
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: V223D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022613 Gene: ENSMUSG00000022034 AA Change: V223D
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,326,510 (GRCm39) |
|
probably null |
Het |
Alpk2 |
A |
G |
18: 65,482,988 (GRCm39) |
V340A |
probably damaging |
Het |
Cald1 |
G |
T |
6: 34,739,267 (GRCm39) |
|
probably null |
Het |
Col24a1 |
C |
T |
3: 145,064,321 (GRCm39) |
T702I |
probably benign |
Het |
Ddx50 |
T |
C |
10: 62,452,049 (GRCm39) |
R725G |
unknown |
Het |
Dnah9 |
A |
T |
11: 65,818,581 (GRCm39) |
F68L |
probably benign |
Het |
Dnmt3b |
G |
A |
2: 153,519,118 (GRCm39) |
V651M |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,348,683 (GRCm39) |
C299Y |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,375,162 (GRCm39) |
I562V |
probably benign |
Het |
Ggt6 |
T |
C |
11: 72,326,542 (GRCm39) |
I33T |
possibly damaging |
Het |
Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
Gm9847 |
A |
G |
12: 14,545,130 (GRCm39) |
|
noncoding transcript |
Het |
Gnao1 |
A |
T |
8: 94,676,070 (GRCm39) |
Y116F |
probably damaging |
Het |
Gvin1 |
A |
T |
7: 105,762,606 (GRCm39) |
I621K |
possibly damaging |
Het |
Hyal6 |
T |
C |
6: 24,734,235 (GRCm39) |
M56T |
possibly damaging |
Het |
Hyou1 |
T |
A |
9: 44,296,546 (GRCm39) |
D490E |
probably damaging |
Het |
Igsf10 |
G |
C |
3: 59,235,574 (GRCm39) |
Q1536E |
probably benign |
Het |
Klk1b8 |
T |
C |
7: 43,448,068 (GRCm39) |
S31P |
possibly damaging |
Het |
Map3k6 |
A |
C |
4: 132,970,646 (GRCm39) |
I178L |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,528,778 (GRCm39) |
N427Y |
probably damaging |
Het |
Ncr1 |
T |
A |
7: 4,347,519 (GRCm39) |
I228N |
probably damaging |
Het |
Nefh |
A |
T |
11: 4,895,233 (GRCm39) |
Y319N |
probably damaging |
Het |
Or4a80 |
A |
C |
2: 89,582,417 (GRCm39) |
C252G |
probably damaging |
Het |
Pakap |
T |
C |
4: 57,854,848 (GRCm39) |
V120A |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,628,850 (GRCm39) |
Y699F |
probably benign |
Het |
Plekhd1 |
T |
C |
12: 80,767,362 (GRCm39) |
L250P |
probably damaging |
Het |
Reln |
A |
G |
5: 22,203,570 (GRCm39) |
V1228A |
probably benign |
Het |
Rhobtb2 |
G |
T |
14: 70,034,593 (GRCm39) |
R211S |
probably damaging |
Het |
Rps6kb1 |
T |
C |
11: 86,403,697 (GRCm39) |
I305V |
possibly damaging |
Het |
Slc12a2 |
G |
A |
18: 58,029,382 (GRCm39) |
G256E |
possibly damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,708,129 (GRCm39) |
|
probably null |
Het |
Thoc1 |
A |
G |
18: 9,962,390 (GRCm39) |
T92A |
possibly damaging |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tmem117 |
T |
G |
15: 94,992,653 (GRCm39) |
S438A |
possibly damaging |
Het |
Ttll7 |
A |
G |
3: 146,667,465 (GRCm39) |
N777S |
probably damaging |
Het |
Ubd |
T |
A |
17: 37,506,345 (GRCm39) |
V77E |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,790,117 (GRCm39) |
S658P |
probably damaging |
Het |
Vmn1r78 |
G |
A |
7: 11,886,693 (GRCm39) |
M101I |
possibly damaging |
Het |
Wdr93 |
T |
C |
7: 79,426,974 (GRCm39) |
C638R |
probably benign |
Het |
Zfp983 |
T |
A |
17: 21,877,947 (GRCm39) |
V50D |
probably damaging |
Het |
Zhx3 |
A |
T |
2: 160,623,881 (GRCm39) |
H95Q |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCGCCAGCTGTTCTTAAATGATAC -3'
(R):5'- TCAGAGAAAACCAGTCTGTACC -3'
Sequencing Primer
(F):5'- TTAGCTTTACCTTTCTCAGTTTCTC -3'
(R):5'- AGAGTTTAACTGCCAAATATCAACC -3'
|
Posted On |
2016-11-08 |