Incidental Mutation 'PIT4508001:Esco2'
| ID |
556241 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4508001 (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 66068914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 132
(V132E)
|
| 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: V132E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034
AA Change: V132E
| 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 |
possibly damaging
Transcript: ENSMUST00000225853
AA Change: V56E
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.7%
- 10x: 84.6%
- 20x: 71.6%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,176,128 (GRCm39) |
T1228A |
probably damaging |
Het |
| Actg2 |
A |
T |
6: 83,489,989 (GRCm39) |
I370N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,557,137 (GRCm39) |
T330A |
possibly damaging |
Het |
| Atrip |
C |
T |
9: 108,903,057 (GRCm39) |
A6T |
possibly damaging |
Het |
| Bms1 |
G |
A |
6: 118,360,767 (GRCm39) |
R1234C |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,989,230 (GRCm39) |
T487S |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,767,284 (GRCm39) |
F478S |
probably damaging |
Het |
| Gjb5 |
A |
T |
4: 127,250,033 (GRCm39) |
L37Q |
probably damaging |
Het |
| Gm8020 |
T |
A |
14: 42,324,234 (GRCm39) |
Y24F |
|
Het |
| H2bc8 |
CTCGACCATCACGTC |
CTC |
13: 23,755,867 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,644,796 (GRCm39) |
L195P |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,874,816 (GRCm39) |
T1602A |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,153,662 (GRCm39) |
Y243* |
probably null |
Het |
| Itga3 |
T |
C |
11: 94,946,719 (GRCm39) |
H730R |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,974,451 (GRCm39) |
L866Q |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,360,606 (GRCm39) |
L127Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,223 (GRCm39) |
I2262T |
probably damaging |
Het |
| Mxd3 |
A |
T |
13: 55,473,707 (GRCm39) |
D170E |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,076,331 (GRCm39) |
M811V |
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,606,527 (GRCm39) |
D335E |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,249,028 (GRCm39) |
T58A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,351 (GRCm39) |
R292* |
probably null |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,524,059 (GRCm39) |
H56Y |
probably damaging |
Het |
| Pom121l12 |
A |
G |
11: 14,549,689 (GRCm39) |
R132G |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,484 (GRCm39) |
K210E |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,927,573 (GRCm39) |
Y1351H |
probably damaging |
Het |
| Shisa9 |
G |
A |
16: 12,085,344 (GRCm39) |
V318I |
probably benign |
Het |
| Slc41a2 |
T |
G |
10: 83,090,744 (GRCm39) |
H480P |
probably damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,722,892 (GRCm39) |
A331S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,764 (GRCm39) |
F885I |
unknown |
Het |
| Speer4f1 |
T |
C |
5: 17,685,412 (GRCm39) |
S236P |
unknown |
Het |
| Zfp326 |
A |
T |
5: 106,062,556 (GRCm39) |
Q475L |
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,786,002 (GRCm39) |
V2058G |
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 |
|
IGL03039:Esco2
|
APN |
14 |
66,068,867 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTTGGTCCACAACTGGC -3'
(R):5'- AGACAAGTCTTGCTCCCACC -3'
Sequencing Primer
(F):5'- GGTCCACAACTGGCTTATAGGTC -3'
(R):5'- AAGTCTTGCTCCCACCAACTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation