Incidental Mutation 'IGL01606:Cel'
ID93422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cel
Ensembl Gene ENSMUSG00000026818
Gene Namecarboxyl ester lipase
Synonyms1810036E18Rik, BAL
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL01606
Quality Score
Status
Chromosome2
Chromosomal Location28555795-28563403 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28560564 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 150 (I150V)
Ref Sequence ENSEMBL: ENSMUSP00000028161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028161]
Predicted Effect probably benign
Transcript: ENSMUST00000028161
AA Change: I150V

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000028161
Gene: ENSMUSG00000026818
AA Change: I150V

DomainStartEndE-ValueType
Pfam:COesterase 1 542 2.4e-163 PFAM
Pfam:Abhydrolase_3 121 226 8e-8 PFAM
low complexity region 568 589 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177012
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced cholesteryl ester absorption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik A G 17: 14,943,863 D84G probably damaging Het
Adat3 A T 10: 80,607,338 I337F probably damaging Het
Carmil3 T A 14: 55,493,849 N128K possibly damaging Het
Ceacam2 T C 7: 25,530,707 E158G possibly damaging Het
Chd5 A G 4: 152,360,975 H441R probably damaging Het
Clic5 G T 17: 44,248,746 R109L probably benign Het
Cpd T C 11: 76,812,640 M466V probably benign Het
Cyp39a1 T A 17: 43,746,618 probably benign Het
Dnah11 C A 12: 117,983,032 A3106S probably benign Het
Fasn A C 11: 120,809,023 probably null Het
Fat1 G A 8: 45,023,049 V1688I probably benign Het
Fibcd1 A G 2: 31,833,853 I258T probably benign Het
Frem2 C A 3: 53,653,591 R1165I possibly damaging Het
Gm5627 C T 9: 102,749,486 noncoding transcript Het
Gm5862 T A 5: 26,019,516 T152S probably benign Het
Gnb3 T A 6: 124,837,255 D154V probably damaging Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Klrb1 C A 6: 128,723,005 E14D probably benign Het
Osbpl1a A T 18: 12,756,214 D556E possibly damaging Het
Pkd1 T C 17: 24,576,523 V2330A probably damaging Het
Pkdrej T C 15: 85,817,700 K1345R possibly damaging Het
Plxna4 A G 6: 32,158,001 F1756L probably damaging Het
Psg28 A C 7: 18,430,371 S139A probably benign Het
Ptpru A T 4: 131,808,481 I395N possibly damaging Het
Reps1 A G 10: 18,107,687 E426G probably damaging Het
Rtp4 T A 16: 23,613,254 S179T probably benign Het
Sh3pxd2a C A 19: 47,268,596 R561L probably benign Het
Slc29a2 T A 19: 5,027,439 L215Q possibly damaging Het
Slc44a4 T C 17: 34,929,018 F653L probably damaging Het
Sulf1 G T 1: 12,836,204 R490L possibly damaging Het
Ttll4 T C 1: 74,685,893 L602P probably damaging Het
Ttn A G 2: 76,776,790 V17963A probably damaging Het
Urb1 A G 16: 90,760,459 S1760P probably damaging Het
Zmynd11 G A 13: 9,697,688 R149W probably damaging Het
Other mutations in Cel
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Cel APN 2 28559385 missense probably damaging 0.98
IGL01327:Cel APN 2 28557955 missense possibly damaging 0.61
R0304:Cel UTSW 2 28557771 missense probably benign 0.04
R0321:Cel UTSW 2 28561148 missense probably benign 0.00
R0865:Cel UTSW 2 28560615 missense probably damaging 1.00
R1123:Cel UTSW 2 28556740 missense probably damaging 1.00
R1424:Cel UTSW 2 28559624 missense probably damaging 0.99
R1448:Cel UTSW 2 28556326 missense probably damaging 1.00
R1597:Cel UTSW 2 28560467 splice site probably benign
R1717:Cel UTSW 2 28556777 missense probably damaging 1.00
R2256:Cel UTSW 2 28561192 missense probably damaging 1.00
R3149:Cel UTSW 2 28556131 missense probably benign 0.04
R4105:Cel UTSW 2 28558027 missense probably benign 0.35
R4520:Cel UTSW 2 28557968 missense probably benign 0.08
R5135:Cel UTSW 2 28559423 missense probably benign 0.39
R5318:Cel UTSW 2 28557708 missense possibly damaging 0.77
R5323:Cel UTSW 2 28560518 missense probably damaging 1.00
R5958:Cel UTSW 2 28560945 missense probably damaging 0.97
R6803:Cel UTSW 2 28558048 missense probably benign 0.36
R6976:Cel UTSW 2 28556842 missense probably damaging 1.00
R7342:Cel UTSW 2 28560637 nonsense probably null
Posted On2013-12-09