Incidental Mutation 'R6606:Ces4a'
| ID |
525690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces4a
|
| Ensembl Gene |
ENSMUSG00000060560 |
| Gene Name |
carboxylesterase 4A |
| Synonyms |
Ces8 |
| MMRRC Submission |
044729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6606 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105858432-105876741 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105876010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 517
(N517S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161289]
|
| AlphaFold |
Q8R0W5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161289
AA Change: N517S
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125062
Gene: ENSMUSG00000060560
AA Change: N517S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
8 |
554 |
4.9e-163 |
PFAM |
|
Pfam:Abhydrolase_3
|
143 |
319 |
2e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.1116 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 120,980,769 (GRCm39) |
E21G |
probably damaging |
Het |
| Ankk1 |
T |
C |
9: 49,327,646 (GRCm39) |
Y511C |
probably benign |
Het |
| Atn1 |
G |
A |
6: 124,721,919 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,730,978 (GRCm39) |
S618R |
probably benign |
Het |
| Chd4 |
C |
A |
6: 125,086,389 (GRCm39) |
T963K |
probably damaging |
Het |
| Crlf1 |
A |
G |
8: 70,953,824 (GRCm39) |
Y310C |
probably damaging |
Het |
| Cyyr1 |
A |
G |
16: 85,254,438 (GRCm39) |
Y155H |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,660,179 (GRCm39) |
I831N |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,189,711 (GRCm39) |
I17V |
probably benign |
Het |
| Ephx4 |
G |
T |
5: 107,560,931 (GRCm39) |
V28F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,523,921 (GRCm39) |
I651T |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,719,296 (GRCm39) |
Q31R |
possibly damaging |
Het |
| Fbxl17 |
A |
G |
17: 63,794,783 (GRCm39) |
V433A |
probably damaging |
Het |
| Gm20449 |
T |
C |
7: 41,108,253 (GRCm39) |
E39G |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,583,296 (GRCm39) |
P191L |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,360,658 (GRCm39) |
T731A |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,062,829 (GRCm39) |
D371G |
possibly damaging |
Het |
| Or10n1 |
G |
A |
9: 39,525,378 (GRCm39) |
V172M |
probably damaging |
Het |
| P4ha3 |
G |
T |
7: 99,954,851 (GRCm39) |
C303F |
probably damaging |
Het |
| Parp10 |
C |
A |
15: 76,124,308 (GRCm39) |
V782L |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,041,763 (GRCm39) |
S501P |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,265,104 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
C |
6: 23,002,500 (GRCm39) |
H1530P |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,132,801 (GRCm39) |
K18E |
probably damaging |
Het |
| Rit1 |
A |
G |
3: 88,624,945 (GRCm39) |
E48G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rspo3 |
C |
T |
10: 29,330,277 (GRCm39) |
R228K |
unknown |
Het |
| Scai |
A |
T |
2: 38,965,147 (GRCm39) |
S566T |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,218,899 (GRCm39) |
E973G |
probably benign |
Het |
| Slc15a3 |
T |
A |
19: 10,826,046 (GRCm39) |
F246I |
possibly damaging |
Het |
| Stfa3 |
T |
C |
16: 36,275,647 (GRCm39) |
D27G |
possibly damaging |
Het |
| Uba5 |
T |
C |
9: 103,932,420 (GRCm39) |
D181G |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,607,156 (GRCm39) |
T25A |
probably benign |
Het |
| Zbtb43 |
G |
T |
2: 33,345,066 (GRCm39) |
S16Y |
probably damaging |
Het |
| Zyg11b |
G |
A |
4: 108,093,286 (GRCm39) |
A717V |
probably benign |
Het |
|
| Other mutations in Ces4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00584:Ces4a
|
APN |
8 |
105,871,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01574:Ces4a
|
APN |
8 |
105,871,859 (GRCm39) |
splice site |
probably benign |
|
|
IGL01655:Ces4a
|
APN |
8 |
105,873,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03092:Ces4a
|
APN |
8 |
105,874,836 (GRCm39) |
splice site |
probably benign |
|
|
IGL03151:Ces4a
|
APN |
8 |
105,874,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
F6893:Ces4a
|
UTSW |
8 |
105,873,859 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0266:Ces4a
|
UTSW |
8 |
105,868,598 (GRCm39) |
missense |
probably benign |
|
|
R0659:Ces4a
|
UTSW |
8 |
105,871,554 (GRCm39) |
splice site |
probably benign |
|
|
R1239:Ces4a
|
UTSW |
8 |
105,876,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Ces4a
|
UTSW |
8 |
105,864,667 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1467:Ces4a
|
UTSW |
8 |
105,864,667 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1505:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Ces4a
|
UTSW |
8 |
105,869,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1734:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1737:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Ces4a
|
UTSW |
8 |
105,872,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4512:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Ces4a
|
UTSW |
8 |
105,873,790 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4934:Ces4a
|
UTSW |
8 |
105,864,613 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4936:Ces4a
|
UTSW |
8 |
105,864,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Ces4a
|
UTSW |
8 |
105,869,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5342:Ces4a
|
UTSW |
8 |
105,872,775 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5647:Ces4a
|
UTSW |
8 |
105,872,712 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6062:Ces4a
|
UTSW |
8 |
105,864,806 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6490:Ces4a
|
UTSW |
8 |
105,876,090 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6876:Ces4a
|
UTSW |
8 |
105,871,624 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6901:Ces4a
|
UTSW |
8 |
105,873,330 (GRCm39) |
missense |
probably benign |
|
|
R7519:Ces4a
|
UTSW |
8 |
105,871,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Ces4a
|
UTSW |
8 |
105,873,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8171:Ces4a
|
UTSW |
8 |
105,873,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Ces4a
|
UTSW |
8 |
105,874,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Ces4a
|
UTSW |
8 |
105,858,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9168:Ces4a
|
UTSW |
8 |
105,876,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9557:Ces4a
|
UTSW |
8 |
105,869,527 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9758:Ces4a
|
UTSW |
8 |
105,869,054 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Z1176:Ces4a
|
UTSW |
8 |
105,858,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGCCTTGTACTGCTTGGAAG -3'
(R):5'- GGTCACTCTCAGTACAGCTG -3'
Sequencing Primer
(F):5'- GGTGCTGGCCTCAAACTCAAC -3'
(R):5'- CTGGTGCTTCTAAGGTTTCTGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation