Incidental Mutation 'IGL02993:Ces1g'
ID 407038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces1g
Ensembl Gene ENSMUSG00000057074
Gene Name carboxylesterase 1G
Synonyms Ses-1, Ces1, Ces-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02993
Quality Score
Status
Chromosome 8
Chromosomal Location 93302369-93337308 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93317079 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 411 (M411L)
Ref Sequence ENSEMBL: ENSMUSP00000037555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044602]
AlphaFold Q8VCC2
Predicted Effect probably benign
Transcript: ENSMUST00000044602
AA Change: M411L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000037555
Gene: ENSMUSG00000057074
AA Change: M411L

DomainStartEndE-ValueType
Pfam:COesterase 1 545 3.6e-168 PFAM
Pfam:Abhydrolase_3 136 295 5.7e-11 PFAM
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,971,719 Y351H probably damaging Het
5830411N06Rik A G 7: 140,296,573 T537A probably benign Het
Abcd3 A C 3: 121,774,010 I434S probably benign Het
Actr2 C T 11: 20,072,514 R319Q probably damaging Het
Atp13a5 G T 16: 29,293,504 Y606* probably null Het
Baiap3 C T 17: 25,250,082 probably null Het
Cers2 A G 3: 95,320,085 Y8C probably benign Het
Chd6 A G 2: 161,052,384 probably benign Het
Cyp2d40 C A 15: 82,761,521 K94N probably benign Het
Ddx51 T C 5: 110,655,621 V323A possibly damaging Het
Dock1 G A 7: 134,744,298 V190I probably benign Het
Evc2 A G 5: 37,419,157 T1042A probably benign Het
Fat4 T A 3: 38,957,155 S2135T probably damaging Het
Gpat2 T C 2: 127,427,566 F46S probably damaging Het
Klhl38 T A 15: 58,322,455 K293* probably null Het
Map4k4 T C 1: 40,014,188 I916T probably damaging Het
Nrap T A 19: 56,345,533 K964M probably damaging Het
Osbpl5 T C 7: 143,699,334 probably null Het
Perm1 A G 4: 156,217,779 Q260R probably benign Het
Ralgapb T A 2: 158,437,394 N133K possibly damaging Het
Slfn9 T C 11: 82,981,196 S905G probably benign Het
Ssh2 C T 11: 77,453,544 T785I probably damaging Het
Stk16 C A 1: 75,213,004 Q69K probably damaging Het
Stk36 T C 1: 74,622,287 L491P probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tcp11 T C 17: 28,070,516 N194D probably damaging Het
Trio C A 15: 27,830,239 probably benign Het
Ugt2b1 A G 5: 86,921,991 V297A possibly damaging Het
Ugt2b5 T G 5: 87,137,232 H282P probably damaging Het
Usp53 A G 3: 122,933,843 M1030T probably damaging Het
Vmn1r234 T A 17: 21,229,703 I293N probably damaging Het
Vmn2r57 T A 7: 41,428,074 T223S probably benign Het
Wdr20 G T 12: 110,794,308 E543* probably null Het
Zbtb25 T A 12: 76,349,417 N344Y probably damaging Het
Zcchc2 T C 1: 106,030,168 F790L probably damaging Het
Other mutations in Ces1g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Ces1g APN 8 93302987 missense possibly damaging 0.61
IGL00971:Ces1g APN 8 93303032 missense probably damaging 1.00
IGL01583:Ces1g APN 8 93306959 missense probably damaging 1.00
IGL03386:Ces1g APN 8 93325812 missense probably benign 0.00
R0359:Ces1g UTSW 8 93328535 splice site probably benign
R0373:Ces1g UTSW 8 93331193 missense probably benign 0.06
R0499:Ces1g UTSW 8 93333689 missense probably benign 0.01
R0689:Ces1g UTSW 8 93328407 missense probably damaging 1.00
R1756:Ces1g UTSW 8 93306954 missense probably benign 0.03
R3052:Ces1g UTSW 8 93335048 missense possibly damaging 0.50
R3150:Ces1g UTSW 8 93325816 missense probably benign 0.45
R3899:Ces1g UTSW 8 93303050 missense probably damaging 1.00
R3966:Ces1g UTSW 8 93328511 missense possibly damaging 0.50
R4134:Ces1g UTSW 8 93319872 missense probably benign 0.00
R4198:Ces1g UTSW 8 93305868 missense probably benign 0.11
R4332:Ces1g UTSW 8 93319818 missense probably benign 0.01
R4719:Ces1g UTSW 8 93317090 missense possibly damaging 0.59
R4841:Ces1g UTSW 8 93333695 missense probably benign 0.01
R4842:Ces1g UTSW 8 93333695 missense probably benign 0.01
R4843:Ces1g UTSW 8 93331265 missense probably damaging 1.00
R5344:Ces1g UTSW 8 93337193 start gained probably benign
R5405:Ces1g UTSW 8 93305868 missense probably benign 0.29
R5425:Ces1g UTSW 8 93325800 missense probably benign 0.20
R5884:Ces1g UTSW 8 93306930 missense probably benign 0.24
R6022:Ces1g UTSW 8 93328457 missense probably damaging 1.00
R6183:Ces1g UTSW 8 93331239 missense possibly damaging 0.48
R6197:Ces1g UTSW 8 93337136 missense probably benign 0.01
R6307:Ces1g UTSW 8 93331192 missense possibly damaging 0.60
R6688:Ces1g UTSW 8 93306972 missense possibly damaging 0.92
R6863:Ces1g UTSW 8 93317019 missense possibly damaging 0.92
R7097:Ces1g UTSW 8 93317037 missense possibly damaging 0.89
R7122:Ces1g UTSW 8 93317037 missense possibly damaging 0.89
R7180:Ces1g UTSW 8 93302948 missense probably benign 0.04
R7202:Ces1g UTSW 8 93302967 missense probably benign 0.01
R7361:Ces1g UTSW 8 93333679 missense not run
R7537:Ces1g UTSW 8 93319827 missense probably benign 0.01
R7621:Ces1g UTSW 8 93328466 missense probably damaging 1.00
R8200:Ces1g UTSW 8 93328457 missense probably damaging 1.00
R8895:Ces1g UTSW 8 93319884 missense possibly damaging 0.83
R9248:Ces1g UTSW 8 93333691 missense possibly damaging 0.62
R9290:Ces1g UTSW 8 93302917 missense probably benign 0.07
R9324:Ces1g UTSW 8 93328490 missense probably damaging 1.00
R9361:Ces1g UTSW 8 93335018 critical splice donor site probably null
R9565:Ces1g UTSW 8 93335164 missense probably benign 0.06
R9615:Ces1g UTSW 8 93335179 missense probably damaging 1.00
Z1176:Ces1g UTSW 8 93325811 missense probably benign 0.02
Posted On 2016-08-02