Incidental Mutation 'R5407:Esco1'
| ID |
426357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esco1
|
| Ensembl Gene |
ENSMUSG00000024293 |
| Gene Name |
establishment of sister chromatid cohesion N-acetyltransferase 1 |
| Synonyms |
A930014I12Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.408)
|
| Stock # |
R5407 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
10566507-10610352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 10574886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 729
(H729N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025142]
[ENSMUST00000097670]
[ENSMUST00000115864]
|
| AlphaFold |
Q69Z69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025142
AA Change: H729N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025142
Gene: ENSMUSG00000024293
AA Change: H729N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
8 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
477 |
N/A |
INTRINSIC |
|
Pfam:zf-C2H2_3
|
607 |
646 |
4.7e-17 |
PFAM |
|
Pfam:Acetyltransf_13
|
766 |
834 |
1.3e-32 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097670
AA Change: H230N
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095274
Gene: ENSMUSG00000024293
AA Change: H230N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C2H2_3
|
108 |
148 |
1.7e-19 |
PFAM |
|
Pfam:Acetyltransf_13
|
266 |
335 |
4.6e-35 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115864
AA Change: H205N
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111530
Gene: ENSMUSG00000024293
AA Change: H205N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C2H2_3
|
83 |
123 |
1.8e-19 |
PFAM |
|
Pfam:Acetyltransf_13
|
241 |
310 |
4.1e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145320
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
T |
C |
4: 144,396,895 (GRCm39) |
K279R |
probably benign |
Het |
| Aldoart2 |
A |
C |
12: 55,612,981 (GRCm39) |
Y302S |
probably damaging |
Het |
| Arpp21 |
G |
T |
9: 111,945,821 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
C |
T |
1: 193,029,680 (GRCm39) |
|
probably null |
Het |
| Cand2 |
G |
A |
6: 115,762,161 (GRCm39) |
V196I |
possibly damaging |
Het |
| Cdc25b |
T |
A |
2: 131,035,567 (GRCm39) |
L381Q |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,654,946 (GRCm39) |
G610E |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,342,575 (GRCm39) |
E797K |
probably damaging |
Het |
| Col3a1 |
A |
T |
1: 45,385,212 (GRCm39) |
I110L |
probably benign |
Het |
| Col5a2 |
T |
A |
1: 45,445,440 (GRCm39) |
D506V |
possibly damaging |
Het |
| Crp |
A |
T |
1: 172,525,676 (GRCm39) |
|
probably null |
Het |
| Evx2 |
A |
G |
2: 74,488,170 (GRCm39) |
S217P |
probably damaging |
Het |
| Gabrb1 |
T |
C |
5: 72,279,364 (GRCm39) |
V303A |
possibly damaging |
Het |
| Gcnt3 |
A |
G |
9: 69,941,471 (GRCm39) |
Y366H |
probably benign |
Het |
| Gmpr2 |
A |
G |
14: 55,915,733 (GRCm39) |
T304A |
possibly damaging |
Het |
| Golga3 |
C |
T |
5: 110,349,856 (GRCm39) |
Q656* |
probably null |
Het |
| Gramd1b |
T |
A |
9: 40,366,951 (GRCm39) |
M6L |
probably damaging |
Het |
| Kif17 |
T |
C |
4: 138,025,532 (GRCm39) |
Y945H |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lrrk1 |
T |
A |
7: 65,920,545 (GRCm39) |
Q1486L |
probably benign |
Het |
| Mboat7 |
G |
T |
7: 3,694,380 (GRCm39) |
H72N |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,165,622 (GRCm39) |
V1447M |
probably damaging |
Het |
| Mrpl3 |
T |
C |
9: 104,954,294 (GRCm39) |
F333L |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,702,796 (GRCm39) |
T246A |
probably benign |
Het |
| Neil3 |
A |
T |
8: 54,054,054 (GRCm39) |
V325E |
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,349,930 (GRCm38) |
|
noncoding transcript |
Het |
| Onecut1 |
C |
T |
9: 74,796,738 (GRCm39) |
S419F |
probably damaging |
Het |
| Or10n1 |
A |
T |
9: 39,524,991 (GRCm39) |
I43F |
probably damaging |
Het |
| Ptp4a1 |
A |
T |
1: 30,984,044 (GRCm39) |
V58E |
probably benign |
Het |
| Radil |
C |
T |
5: 142,493,970 (GRCm39) |
R49H |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,582 (GRCm39) |
E1648G |
possibly damaging |
Het |
| Rnft2 |
C |
T |
5: 118,380,567 (GRCm39) |
M13I |
probably damaging |
Het |
| Satb2 |
A |
G |
1: 56,987,309 (GRCm39) |
L92P |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,715 (GRCm39) |
Y1434C |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,035,486 (GRCm39) |
M657K |
probably benign |
Het |
| Shd |
A |
G |
17: 56,280,936 (GRCm39) |
E204G |
probably damaging |
Het |
| Shh |
T |
A |
5: 28,671,578 (GRCm39) |
R62* |
probably null |
Het |
| Slc9a4 |
A |
G |
1: 40,646,954 (GRCm39) |
T483A |
probably benign |
Het |
| Tbc1d7 |
A |
C |
13: 43,308,178 (GRCm39) |
S96A |
probably benign |
Het |
| Tfcp2 |
T |
C |
15: 100,425,755 (GRCm39) |
|
probably null |
Het |
| Tlk2 |
T |
A |
11: 105,131,201 (GRCm39) |
S182R |
probably damaging |
Het |
| Tppp2 |
A |
G |
14: 52,156,955 (GRCm39) |
|
probably null |
Het |
| Trim65 |
T |
C |
11: 116,016,906 (GRCm39) |
T519A |
probably benign |
Het |
| Trio |
T |
C |
15: 27,844,892 (GRCm39) |
|
probably null |
Het |
| Usf3 |
G |
A |
16: 44,037,769 (GRCm39) |
V750I |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,556,369 (GRCm39) |
K1480N |
probably damaging |
Het |
| Vmn1r58 |
T |
A |
7: 5,413,872 (GRCm39) |
R119S |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,341,313 (GRCm39) |
I1185V |
probably benign |
Het |
| Zc3h7b |
A |
G |
15: 81,670,092 (GRCm39) |
H654R |
probably damaging |
Het |
| Zfyve16 |
G |
T |
13: 92,636,792 (GRCm39) |
A1306E |
probably damaging |
Het |
|
| Other mutations in Esco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Esco1
|
APN |
18 |
10,582,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01376:Esco1
|
APN |
18 |
10,594,892 (GRCm39) |
nonsense |
probably null |
|
|
IGL01886:Esco1
|
APN |
18 |
10,595,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03171:Esco1
|
APN |
18 |
10,594,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03233:Esco1
|
APN |
18 |
10,574,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4576001:Esco1
|
UTSW |
18 |
10,572,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4585001:Esco1
|
UTSW |
18 |
10,594,355 (GRCm39) |
nonsense |
probably null |
|
|
R0266:Esco1
|
UTSW |
18 |
10,594,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0445:Esco1
|
UTSW |
18 |
10,574,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Esco1
|
UTSW |
18 |
10,594,940 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0965:Esco1
|
UTSW |
18 |
10,567,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Esco1
|
UTSW |
18 |
10,594,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Esco1
|
UTSW |
18 |
10,574,873 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2141:Esco1
|
UTSW |
18 |
10,574,873 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2142:Esco1
|
UTSW |
18 |
10,574,873 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4562:Esco1
|
UTSW |
18 |
10,595,074 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4668:Esco1
|
UTSW |
18 |
10,594,734 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5083:Esco1
|
UTSW |
18 |
10,594,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5128:Esco1
|
UTSW |
18 |
10,567,468 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5454:Esco1
|
UTSW |
18 |
10,584,327 (GRCm39) |
missense |
probably benign |
|
|
R5870:Esco1
|
UTSW |
18 |
10,593,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5965:Esco1
|
UTSW |
18 |
10,593,867 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6360:Esco1
|
UTSW |
18 |
10,574,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6390:Esco1
|
UTSW |
18 |
10,567,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:Esco1
|
UTSW |
18 |
10,572,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6524:Esco1
|
UTSW |
18 |
10,582,188 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6534:Esco1
|
UTSW |
18 |
10,594,794 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6633:Esco1
|
UTSW |
18 |
10,595,738 (GRCm39) |
intron |
probably benign |
|
|
R8743:Esco1
|
UTSW |
18 |
10,572,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8877:Esco1
|
UTSW |
18 |
10,575,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9065:Esco1
|
UTSW |
18 |
10,594,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9141:Esco1
|
UTSW |
18 |
10,594,731 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9739:Esco1
|
UTSW |
18 |
10,594,218 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9750:Esco1
|
UTSW |
18 |
10,594,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGACTAATTCCCACCTTCAT -3'
(R):5'- CAGCACATATACCTAAAATAGTCCTTC -3'
Sequencing Primer
(F):5'- ATGGTGGCTCACAACCATCTG -3'
(R):5'- AATAGTCCTTCAAGCTGGGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation