Incidental Mutation 'R0619:Ces2a'
| ID |
58539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2a
|
| Ensembl Gene |
ENSMUSG00000055730 |
| Gene Name |
carboxylesterase 2A |
| Synonyms |
9130231C15Rik, Ces6 |
| MMRRC Submission |
038808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R0619 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105460635-105468266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105462742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 110
(N110K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034346]
[ENSMUST00000161824]
[ENSMUST00000164182]
|
| AlphaFold |
Q8QZR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034346
AA Change: N110K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: N110K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
9 |
537 |
1.2e-171 |
PFAM |
|
Pfam:Abhydrolase_3
|
142 |
267 |
2.9e-11 |
PFAM |
|
Pfam:Peptidase_S9
|
156 |
347 |
7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161824
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164182
AA Change: N110K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: N110K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
8 |
276 |
5e-110 |
PFAM |
|
Pfam:Abhydrolase_3
|
142 |
267 |
2.6e-11 |
PFAM |
|
Pfam:Peptidase_S9
|
156 |
275 |
3e-7 |
PFAM |
|
Pfam:COesterase
|
259 |
504 |
8.3e-47 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
G |
A |
8: 120,339,739 (GRCm39) |
D74N |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,127,679 (GRCm39) |
V573D |
possibly damaging |
Het |
| Ak7 |
A |
G |
12: 105,699,770 (GRCm39) |
K230E |
probably damaging |
Het |
| Amdhd2 |
T |
C |
17: 24,375,562 (GRCm39) |
D375G |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,490,757 (GRCm39) |
E253G |
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,661,725 (GRCm39) |
L158S |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,174,366 (GRCm39) |
T2057A |
probably benign |
Het |
| C2 |
G |
T |
17: 35,091,479 (GRCm39) |
H61Q |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,328,282 (GRCm39) |
K661E |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,269,556 (GRCm39) |
V655I |
probably damaging |
Het |
| Cep78 |
T |
C |
19: 15,956,226 (GRCm39) |
T238A |
probably damaging |
Het |
| Crat |
T |
C |
2: 30,299,996 (GRCm39) |
D128G |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,533,841 (GRCm39) |
M233K |
probably benign |
Het |
| Dsg4 |
T |
C |
18: 20,594,416 (GRCm39) |
V515A |
probably benign |
Het |
| Fer1l6 |
T |
C |
15: 58,534,784 (GRCm39) |
|
probably null |
Het |
| Fryl |
T |
C |
5: 73,226,074 (GRCm39) |
D1863G |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,774,484 (GRCm39) |
L57Q |
probably damaging |
Het |
| Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,647,388 (GRCm39) |
|
probably null |
Het |
| Kcnn3 |
A |
C |
3: 89,559,337 (GRCm39) |
T536P |
probably damaging |
Het |
| Kctd3 |
T |
C |
1: 188,710,840 (GRCm39) |
D441G |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,829,293 (GRCm39) |
T528M |
probably benign |
Het |
| Kmt2c |
G |
A |
5: 25,503,914 (GRCm39) |
T3798I |
probably benign |
Het |
| Map1a |
T |
A |
2: 121,135,736 (GRCm39) |
M1946K |
probably damaging |
Het |
| Mfhas1 |
T |
A |
8: 36,057,829 (GRCm39) |
V768E |
probably benign |
Het |
| Mroh8 |
C |
A |
2: 157,107,001 (GRCm39) |
V223F |
possibly damaging |
Het |
| Mss51 |
A |
T |
14: 20,537,641 (GRCm39) |
V30E |
probably benign |
Het |
| Mtmr10 |
G |
A |
7: 63,970,961 (GRCm39) |
R392H |
probably benign |
Het |
| Mup3 |
T |
C |
4: 62,004,198 (GRCm39) |
N105S |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,453,642 (GRCm39) |
M22T |
probably benign |
Het |
| Or1o2 |
T |
A |
17: 37,543,046 (GRCm39) |
I72F |
possibly damaging |
Het |
| Or2aj5 |
T |
A |
16: 19,425,022 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or5m9 |
T |
A |
2: 85,877,655 (GRCm39) |
Y276* |
probably null |
Het |
| Os9 |
A |
G |
10: 126,956,860 (GRCm39) |
I43T |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,347,234 (GRCm39) |
L200P |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,548,198 (GRCm39) |
V100M |
possibly damaging |
Het |
| Rnf6 |
G |
A |
5: 146,147,531 (GRCm39) |
R496C |
possibly damaging |
Het |
| Rsad1 |
C |
T |
11: 94,433,465 (GRCm39) |
R407Q |
probably damaging |
Het |
| Rspo3 |
T |
C |
10: 29,380,633 (GRCm39) |
D127G |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 109,909,469 (GRCm39) |
T1760S |
possibly damaging |
Het |
| Sh2d3c |
T |
A |
2: 32,643,037 (GRCm39) |
V588E |
probably damaging |
Het |
| Siglech |
A |
T |
7: 55,418,910 (GRCm39) |
T238S |
probably benign |
Het |
| Slc15a2 |
T |
A |
16: 36,579,669 (GRCm39) |
N328I |
probably damaging |
Het |
| Slc16a11 |
G |
T |
11: 70,105,858 (GRCm39) |
G94C |
probably damaging |
Het |
| Stub1 |
T |
C |
17: 26,050,296 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
A |
7: 130,318,483 (GRCm39) |
V40D |
probably damaging |
Het |
| Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
| Trappc14 |
A |
G |
5: 138,262,088 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
A |
G |
11: 115,705,890 (GRCm39) |
E69G |
probably damaging |
Het |
| Tsks |
A |
G |
7: 44,600,258 (GRCm39) |
E150G |
probably damaging |
Het |
| Ubap2l |
A |
C |
3: 89,924,527 (GRCm39) |
V680G |
probably benign |
Het |
| Usp16 |
A |
T |
16: 87,269,052 (GRCm39) |
H315L |
probably benign |
Het |
| Vav2 |
A |
G |
2: 27,186,133 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
T |
C |
10: 115,256,715 (GRCm39) |
F1562L |
possibly damaging |
Het |
| Zfp764 |
C |
A |
7: 127,005,713 (GRCm39) |
V22L |
probably benign |
Het |
|
| Other mutations in Ces2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01933:Ces2a
|
APN |
8 |
105,468,047 (GRCm39) |
makesense |
probably null |
|
|
IGL02135:Ces2a
|
APN |
8 |
105,466,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02529:Ces2a
|
APN |
8 |
105,463,851 (GRCm39) |
splice site |
probably benign |
|
|
IGL02625:Ces2a
|
APN |
8 |
105,466,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02869:Ces2a
|
APN |
8 |
105,465,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03265:Ces2a
|
APN |
8 |
105,464,075 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03349:Ces2a
|
APN |
8 |
105,460,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0010:Ces2a
|
UTSW |
8 |
105,468,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0318:Ces2a
|
UTSW |
8 |
105,467,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0477:Ces2a
|
UTSW |
8 |
105,464,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0561:Ces2a
|
UTSW |
8 |
105,464,165 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1665:Ces2a
|
UTSW |
8 |
105,464,187 (GRCm39) |
splice site |
probably benign |
|
|
R1737:Ces2a
|
UTSW |
8 |
105,467,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2266:Ces2a
|
UTSW |
8 |
105,466,822 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2267:Ces2a
|
UTSW |
8 |
105,466,822 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2269:Ces2a
|
UTSW |
8 |
105,466,822 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2288:Ces2a
|
UTSW |
8 |
105,464,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2656:Ces2a
|
UTSW |
8 |
105,462,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3176:Ces2a
|
UTSW |
8 |
105,466,010 (GRCm39) |
splice site |
probably benign |
|
|
R3906:Ces2a
|
UTSW |
8 |
105,465,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4344:Ces2a
|
UTSW |
8 |
105,463,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Ces2a
|
UTSW |
8 |
105,463,938 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4780:Ces2a
|
UTSW |
8 |
105,463,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5434:Ces2a
|
UTSW |
8 |
105,464,041 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5763:Ces2a
|
UTSW |
8 |
105,462,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5828:Ces2a
|
UTSW |
8 |
105,465,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6359:Ces2a
|
UTSW |
8 |
105,462,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6440:Ces2a
|
UTSW |
8 |
105,467,954 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7066:Ces2a
|
UTSW |
8 |
105,466,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7267:Ces2a
|
UTSW |
8 |
105,465,672 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7395:Ces2a
|
UTSW |
8 |
105,466,273 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7455:Ces2a
|
UTSW |
8 |
105,464,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7457:Ces2a
|
UTSW |
8 |
105,464,021 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7567:Ces2a
|
UTSW |
8 |
105,467,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7683:Ces2a
|
UTSW |
8 |
105,463,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8328:Ces2a
|
UTSW |
8 |
105,463,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Ces2a
|
UTSW |
8 |
105,465,665 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9183:Ces2a
|
UTSW |
8 |
105,460,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9794:Ces2a
|
UTSW |
8 |
105,467,896 (GRCm39) |
missense |
probably benign |
0.16 |
|
X0022:Ces2a
|
UTSW |
8 |
105,462,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ces2a
|
UTSW |
8 |
105,461,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ces2a
|
UTSW |
8 |
105,460,638 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTTTCACATGGCTGGTGGTCTT -3'
(R):5'- GCACCATTCTTAGTGGGTCTTCCAAGT -3'
Sequencing Primer
(F):5'- CACATGGCTGGTGGTCTTTATTG -3'
(R):5'- acacacacacacacacacac -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation