Incidental Mutation 'R4004:Ces1d'
| ID |
311394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1d
|
| Ensembl Gene |
ENSMUSG00000056973 |
| Gene Name |
carboxylesterase 1D |
| Synonyms |
Ces3, TGH |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4004 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
93892700-93924432 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93904720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 340
(F340Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034172]
|
| AlphaFold |
Q8VCT4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034172
AA Change: F340Y
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: F340Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
545 |
4.9e-169 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
256 |
8.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148340
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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 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. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased blood lipids, improved glucose tolerance, and increased energy expenditure. [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 |
|---|
| Acan |
A |
C |
7: 78,750,435 (GRCm39) |
E1735D |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,990,242 (GRCm39) |
R788G |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,163,095 (GRCm39) |
Y335C |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
| Cblif |
T |
G |
19: 11,736,371 (GRCm39) |
V314G |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,454,914 (GRCm39) |
Q320R |
probably benign |
Het |
| Ctbp2 |
C |
A |
7: 132,593,502 (GRCm39) |
R733L |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,117,404 (GRCm39) |
C62F |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,458,741 (GRCm39) |
N523S |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fcgr1 |
A |
G |
3: 96,191,668 (GRCm39) |
V380A |
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,756,213 (GRCm39) |
P751Q |
possibly damaging |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Kctd3 |
A |
G |
1: 188,724,940 (GRCm39) |
S214P |
probably benign |
Het |
| Lrpap1 |
T |
A |
5: 35,262,888 (GRCm39) |
K50* |
probably null |
Het |
| Naa11 |
A |
T |
5: 97,539,652 (GRCm39) |
Y169N |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,387,434 (GRCm39) |
I408T |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,960 (GRCm39) |
H153L |
probably benign |
Het |
| Or2t35 |
C |
T |
14: 14,408,152 (GRCm38) |
A308V |
probably benign |
Het |
| Plxnc1 |
G |
A |
10: 94,630,459 (GRCm39) |
Q1512* |
probably null |
Het |
| Ptpn14 |
A |
G |
1: 189,582,707 (GRCm39) |
N518S |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,712,132 (GRCm39) |
I740V |
probably damaging |
Het |
| Ric1 |
C |
T |
19: 29,557,201 (GRCm39) |
R429C |
probably benign |
Het |
| Rpn2 |
T |
C |
2: 157,159,928 (GRCm39) |
L548P |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,818,786 (GRCm39) |
S580P |
probably damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,003,610 (GRCm39) |
Y496H |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Utp11 |
A |
T |
4: 124,576,230 (GRCm39) |
F138I |
probably damaging |
Het |
| Vcp |
G |
A |
4: 42,983,028 (GRCm39) |
T606I |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp316 |
A |
G |
5: 143,240,874 (GRCm39) |
S382P |
possibly damaging |
Het |
|
| Other mutations in Ces1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01592:Ces1d
|
APN |
8 |
93,921,717 (GRCm39) |
splice site |
probably benign |
|
|
IGL01707:Ces1d
|
APN |
8 |
93,916,178 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01753:Ces1d
|
APN |
8 |
93,919,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01918:Ces1d
|
APN |
8 |
93,904,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02730:Ces1d
|
APN |
8 |
93,912,644 (GRCm39) |
missense |
probably benign |
|
|
IGL02819:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL02824:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL02825:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL02858:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL02877:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL02946:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL02990:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL03024:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL03080:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL03081:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL03082:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL03096:Ces1d
|
APN |
8 |
93,904,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03165:Ces1d
|
APN |
8 |
93,916,147 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03233:Ces1d
|
APN |
8 |
93,921,707 (GRCm39) |
missense |
probably benign |
|
|
IGL03263:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL03310:Ces1d
|
APN |
8 |
93,901,816 (GRCm39) |
splice site |
probably benign |
|
|
IGL03338:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
IGL03357:Ces1d
|
APN |
8 |
93,896,346 (GRCm39) |
splice site |
probably null |
|
|
R0125:Ces1d
|
UTSW |
8 |
93,901,810 (GRCm39) |
splice site |
probably benign |
|
|
R0393:Ces1d
|
UTSW |
8 |
93,919,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Ces1d
|
UTSW |
8 |
93,924,307 (GRCm39) |
missense |
probably benign |
|
|
R0746:Ces1d
|
UTSW |
8 |
93,916,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Ces1d
|
UTSW |
8 |
93,921,649 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1470:Ces1d
|
UTSW |
8 |
93,921,649 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1607:Ces1d
|
UTSW |
8 |
93,912,746 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1879:Ces1d
|
UTSW |
8 |
93,916,126 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2881:Ces1d
|
UTSW |
8 |
93,921,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3870:Ces1d
|
UTSW |
8 |
93,901,714 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4573:Ces1d
|
UTSW |
8 |
93,908,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Ces1d
|
UTSW |
8 |
93,893,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4985:Ces1d
|
UTSW |
8 |
93,901,772 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5080:Ces1d
|
UTSW |
8 |
93,908,175 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5209:Ces1d
|
UTSW |
8 |
93,901,816 (GRCm39) |
splice site |
probably benign |
|
|
R5351:Ces1d
|
UTSW |
8 |
93,904,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5433:Ces1d
|
UTSW |
8 |
93,912,664 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5614:Ces1d
|
UTSW |
8 |
93,902,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5722:Ces1d
|
UTSW |
8 |
93,904,756 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6257:Ces1d
|
UTSW |
8 |
93,893,025 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7238:Ces1d
|
UTSW |
8 |
93,904,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7410:Ces1d
|
UTSW |
8 |
93,919,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Ces1d
|
UTSW |
8 |
93,904,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7563:Ces1d
|
UTSW |
8 |
93,904,667 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7827:Ces1d
|
UTSW |
8 |
93,924,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7853:Ces1d
|
UTSW |
8 |
93,901,695 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7860:Ces1d
|
UTSW |
8 |
93,897,765 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8202:Ces1d
|
UTSW |
8 |
93,919,495 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8282:Ces1d
|
UTSW |
8 |
93,912,740 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8968:Ces1d
|
UTSW |
8 |
93,914,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8981:Ces1d
|
UTSW |
8 |
93,919,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9143:Ces1d
|
UTSW |
8 |
93,912,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Ces1d
|
UTSW |
8 |
93,912,724 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF014:Ces1d
|
UTSW |
8 |
93,902,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Ces1d
|
UTSW |
8 |
93,901,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGCACTTCAAAAGGCTTC -3'
(R):5'- GGCTCTTTGTGCTGACCAAG -3'
Sequencing Primer
(F):5'- AAGGCTTCATCAAGGATTCTCC -3'
(R):5'- TGACCAAGCTTTCAGACATCCAGAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation