Incidental Mutation 'IGL01598:Ces1c'
ID91735
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces1c
Ensembl Gene ENSMUSG00000057400
Gene Namecarboxylesterase 1C
SynonymsEs-4, Ces-N, Es1, Es-N, Ee-1, Es-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL01598
Quality Score
Status
Chromosome8
Chromosomal Location93099015-93131283 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93118413 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 120 (I120K)
Ref Sequence ENSEMBL: ENSMUSP00000148619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034189] [ENSMUST00000211843]
Predicted Effect probably benign
Transcript: ENSMUST00000034189
AA Change: I266K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034189
Gene: ENSMUSG00000057400
AA Change: I266K

DomainStartEndE-ValueType
Pfam:COesterase 1 534 4e-167 PFAM
Pfam:Abhydrolase_3 136 235 6.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211843
AA Change: I120K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212091
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit protection against nerve agents such as chlorpyrifos and chlorpyrifos oxon but increased sensitivity to soman coumarin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410124H12Rik T A 16: 92,478,929 noncoding transcript Het
Apc2 T A 10: 80,313,048 L1283Q probably damaging Het
Apol6 G A 15: 77,050,716 A62T probably damaging Het
AU018091 A T 7: 3,162,270 I204N possibly damaging Het
B4galnt4 G T 7: 141,070,515 R765L probably benign Het
Brca1 T C 11: 101,524,330 T993A probably benign Het
Cadps C T 14: 12,522,202 probably null Het
Ccdc177 A G 12: 80,758,745 S252P unknown Het
Cdc73 A G 1: 143,699,279 S59P probably damaging Het
Cep63 G T 9: 102,590,458 Q570K possibly damaging Het
Cpeb1 T C 7: 81,361,801 M131V probably benign Het
Dync1h1 G A 12: 110,658,128 V3701I probably damaging Het
Fxr1 T C 3: 34,064,232 S535P possibly damaging Het
Gldc A T 19: 30,133,756 V540D probably damaging Het
Iqcf6 A G 9: 106,627,508 T124A probably benign Het
Itih4 A G 14: 30,887,817 I35V possibly damaging Het
Kmt2c T C 5: 25,273,666 *1525W probably null Het
Kmt2c A T 5: 25,354,771 V963E probably damaging Het
Lmnb2 T C 10: 80,907,165 S202G probably benign Het
Med23 T G 10: 24,903,798 S924R probably benign Het
Olfr1454 T C 19: 13,064,149 V246A probably damaging Het
Pcif1 T C 2: 164,886,611 F263L possibly damaging Het
Pon2 A T 6: 5,272,331 L163H probably damaging Het
Scn1a C T 2: 66,302,485 V165M possibly damaging Het
Sema6d C A 2: 124,665,098 P961Q probably damaging Het
Snx27 A G 3: 94,561,843 Y64H probably damaging Het
Srsf11 C T 3: 158,012,035 probably benign Het
Taok1 A G 11: 77,571,684 V193A probably damaging Het
Vps13d T C 4: 145,016,901 T4137A probably benign Het
Zbtb26 T C 2: 37,436,271 Y251C probably damaging Het
Zcchc11 A G 4: 108,550,820 probably benign Het
Other mutations in Ces1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Ces1c APN 8 93106673 missense probably benign 0.02
IGL00558:Ces1c APN 8 93099271 missense probably benign 0.03
IGL00787:Ces1c APN 8 93120366 missense possibly damaging 0.90
IGL00851:Ces1c APN 8 93123117 missense probably benign 0.00
IGL02616:Ces1c APN 8 93106615 missense probably benign 0.01
IGL03087:Ces1c APN 8 93118414 missense probably benign
IGL03203:Ces1c APN 8 93124588 missense probably damaging 1.00
R0119:Ces1c UTSW 8 93106717 unclassified probably benign
R0119:Ces1c UTSW 8 93107610 missense probably benign 0.00
R0255:Ces1c UTSW 8 93127524 missense probably benign
R0759:Ces1c UTSW 8 93130864 nonsense probably null
R1499:Ces1c UTSW 8 93127605 missense probably benign 0.01
R1926:Ces1c UTSW 8 93127604 missense possibly damaging 0.69
R2087:Ces1c UTSW 8 93107602 missense probably benign 0.00
R2142:Ces1c UTSW 8 93130840 missense probably benign
R2442:Ces1c UTSW 8 93123212 missense probably damaging 1.00
R2971:Ces1c UTSW 8 93104193 missense probably benign 0.01
R3079:Ces1c UTSW 8 93120347 missense probably damaging 1.00
R3080:Ces1c UTSW 8 93120347 missense probably damaging 1.00
R3609:Ces1c UTSW 8 93120332 missense probably damaging 1.00
R4131:Ces1c UTSW 8 93100684 missense probably damaging 1.00
R4633:Ces1c UTSW 8 93118386 missense probably benign 0.00
R4988:Ces1c UTSW 8 93100708 missense probably damaging 1.00
R5081:Ces1c UTSW 8 93127569 missense probably damaging 1.00
R5497:Ces1c UTSW 8 93130715 missense possibly damaging 0.91
R5586:Ces1c UTSW 8 93127599 missense probably benign 0.00
R7013:Ces1c UTSW 8 93130764 missense probably damaging 1.00
R7137:Ces1c UTSW 8 93130842 missense probably benign 0.02
R7611:Ces1c UTSW 8 93124511 missense probably benign 0.00
Posted On2013-12-09