Incidental Mutation 'R3966:Ces1g'
| ID |
312354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1g
|
| Ensembl Gene |
ENSMUSG00000057074 |
| Gene Name |
carboxylesterase 1G |
| Synonyms |
Ses-1, Ces-1, Ces1 |
| MMRRC Submission |
040935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3966 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94028997-94063837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94055139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 186
(R186L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044602]
|
| AlphaFold |
Q8VCC2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044602
AA Change: R186L
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037555
Gene: ENSMUSG00000057074
AA Change: R186L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
545 |
3.6e-168 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
295 |
5.7e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: 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 may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. The expression and activity of this gene is age-related but independent of growth hormone level. This gene is clustered with Ces7 and Ces3 on chromosome 8. [provided by RefSeq, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
C |
1: 89,762,183 (GRCm39) |
I371T |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,845,730 (GRCm39) |
T731I |
probably damaging |
Het |
| C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
| C3 |
A |
G |
17: 57,525,664 (GRCm39) |
V864A |
probably damaging |
Het |
| Cadps |
A |
T |
14: 12,522,161 (GRCm38) |
|
probably null |
Het |
| Cemip |
T |
A |
7: 83,600,717 (GRCm39) |
Y968F |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,114,143 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,764,091 (GRCm39) |
Y404H |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,126,890 (GRCm39) |
|
probably null |
Het |
| Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
| E330034G19Rik |
G |
T |
14: 24,356,939 (GRCm39) |
M158I |
unknown |
Het |
| Ehbp1l1 |
C |
T |
19: 5,760,601 (GRCm39) |
|
probably null |
Het |
| Gm14137 |
T |
A |
2: 119,005,497 (GRCm39) |
S19T |
probably benign |
Het |
| Gpr141b |
A |
G |
13: 19,913,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Inhbb |
C |
A |
1: 119,345,291 (GRCm39) |
G333W |
probably damaging |
Het |
| Kcnb1 |
C |
T |
2: 166,946,412 (GRCm39) |
C812Y |
probably damaging |
Het |
| Kdm4c |
A |
G |
4: 74,216,820 (GRCm39) |
D193G |
probably damaging |
Het |
| Mbd5 |
A |
T |
2: 49,162,082 (GRCm39) |
I855L |
possibly damaging |
Het |
| Mcpt1 |
G |
A |
14: 56,256,503 (GRCm39) |
V80M |
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,313,646 (GRCm39) |
D30G |
probably damaging |
Het |
| Ms4a6b |
T |
C |
19: 11,499,098 (GRCm39) |
S71P |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,376,161 (GRCm39) |
|
probably benign |
Het |
| Myrf |
T |
C |
19: 10,196,979 (GRCm39) |
E267G |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,235,583 (GRCm39) |
T624A |
probably damaging |
Het |
| Nfat5 |
G |
T |
8: 108,093,921 (GRCm39) |
A721S |
possibly damaging |
Het |
| Nfatc2 |
C |
T |
2: 168,346,469 (GRCm39) |
S875N |
probably benign |
Het |
| Npm1 |
C |
T |
11: 33,110,350 (GRCm39) |
G148D |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,128,110 (GRCm39) |
E273G |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,439,724 (GRCm39) |
E368K |
probably benign |
Het |
| Ptgs2 |
T |
A |
1: 149,981,226 (GRCm39) |
I503N |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,235,149 (GRCm39) |
S243P |
possibly damaging |
Het |
| Safb2 |
T |
C |
17: 56,882,356 (GRCm39) |
S426G |
probably null |
Het |
| Sos1 |
C |
T |
17: 80,762,608 (GRCm39) |
R73H |
probably damaging |
Het |
| Spink10 |
T |
C |
18: 62,790,975 (GRCm39) |
I87T |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,193,418 (GRCm39) |
S339P |
possibly damaging |
Het |
| Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,441,981 (GRCm39) |
I206V |
possibly damaging |
Het |
| Tom1 |
A |
G |
8: 75,785,867 (GRCm39) |
K360E |
probably benign |
Het |
| Trp73 |
A |
G |
4: 154,146,493 (GRCm39) |
V422A |
probably benign |
Het |
| Vmn2r33 |
T |
C |
7: 7,557,168 (GRCm39) |
M511V |
probably benign |
Het |
| Zfp628 |
T |
C |
7: 4,924,744 (GRCm39) |
S989P |
probably benign |
Het |
|
| Other mutations in Ces1g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Ces1g
|
APN |
8 |
94,029,615 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL00971:Ces1g
|
APN |
8 |
94,029,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Ces1g
|
APN |
8 |
94,033,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02993:Ces1g
|
APN |
8 |
94,043,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03386:Ces1g
|
APN |
8 |
94,052,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0359:Ces1g
|
UTSW |
8 |
94,055,163 (GRCm39) |
splice site |
probably benign |
|
|
R0373:Ces1g
|
UTSW |
8 |
94,057,821 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0499:Ces1g
|
UTSW |
8 |
94,060,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0689:Ces1g
|
UTSW |
8 |
94,055,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Ces1g
|
UTSW |
8 |
94,033,582 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3052:Ces1g
|
UTSW |
8 |
94,061,676 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3150:Ces1g
|
UTSW |
8 |
94,052,444 (GRCm39) |
missense |
probably benign |
0.45 |
|
R3899:Ces1g
|
UTSW |
8 |
94,029,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4134:Ces1g
|
UTSW |
8 |
94,046,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4198:Ces1g
|
UTSW |
8 |
94,032,496 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4332:Ces1g
|
UTSW |
8 |
94,046,446 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4719:Ces1g
|
UTSW |
8 |
94,043,718 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4841:Ces1g
|
UTSW |
8 |
94,060,323 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4842:Ces1g
|
UTSW |
8 |
94,060,323 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4843:Ces1g
|
UTSW |
8 |
94,057,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5344:Ces1g
|
UTSW |
8 |
94,063,821 (GRCm39) |
start gained |
probably benign |
|
|
R5405:Ces1g
|
UTSW |
8 |
94,032,496 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5425:Ces1g
|
UTSW |
8 |
94,052,428 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5884:Ces1g
|
UTSW |
8 |
94,033,558 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6022:Ces1g
|
UTSW |
8 |
94,055,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:Ces1g
|
UTSW |
8 |
94,057,867 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6197:Ces1g
|
UTSW |
8 |
94,063,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6307:Ces1g
|
UTSW |
8 |
94,057,820 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6688:Ces1g
|
UTSW |
8 |
94,033,600 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6863:Ces1g
|
UTSW |
8 |
94,043,647 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7097:Ces1g
|
UTSW |
8 |
94,043,665 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7122:Ces1g
|
UTSW |
8 |
94,043,665 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7180:Ces1g
|
UTSW |
8 |
94,029,576 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7202:Ces1g
|
UTSW |
8 |
94,029,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7361:Ces1g
|
UTSW |
8 |
94,060,307 (GRCm39) |
missense |
not run |
|
|
R7537:Ces1g
|
UTSW |
8 |
94,046,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7621:Ces1g
|
UTSW |
8 |
94,055,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8200:Ces1g
|
UTSW |
8 |
94,055,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8895:Ces1g
|
UTSW |
8 |
94,046,512 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9248:Ces1g
|
UTSW |
8 |
94,060,319 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9290:Ces1g
|
UTSW |
8 |
94,029,545 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9324:Ces1g
|
UTSW |
8 |
94,055,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9361:Ces1g
|
UTSW |
8 |
94,061,646 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9565:Ces1g
|
UTSW |
8 |
94,061,792 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9615:Ces1g
|
UTSW |
8 |
94,061,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ces1g
|
UTSW |
8 |
94,052,439 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGGCAGCTACATCCAGAC -3'
(R):5'- CCATCTATTGGCCTGTGGTATACAG -3'
Sequencing Primer
(F):5'- CTACATCCAGACTAAAGGGGTTCTAG -3'
(R):5'- GGGCTAAGTGTAACCAAAGATTTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation