Incidental Mutation 'IGL01527:Ces1a'
ID 278555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces1a
Ensembl Gene ENSMUSG00000071047
Gene Name carboxylesterase 1A
Synonyms Gm4976
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01527
Quality Score
Status
Chromosome 8
Chromosomal Location 93020214-93048192 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93045098 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 24 (P24T)
Ref Sequence ENSEMBL: ENSMUSP00000092836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095211]
AlphaFold E9PYP1
Predicted Effect probably damaging
Transcript: ENSMUST00000095211
AA Change: P24T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: P24T

DomainStartEndE-ValueType
Pfam:COesterase 1 545 5.7e-169 PFAM
Pfam:Abhydrolase_3 136 286 8.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210764
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G T 17: 35,567,833 probably null Het
Abca13 T A 11: 9,290,788 W884R possibly damaging Het
Ahi1 T C 10: 20,960,085 probably benign Het
Ankfn1 G T 11: 89,391,639 P394Q probably benign Het
AW549877 T C 15: 3,988,683 Y170C probably damaging Het
Cacnb2 T C 2: 14,984,270 I393T possibly damaging Het
Col22a1 T C 15: 71,907,031 E269G probably damaging Het
Cyp24a1 A G 2: 170,496,566 L70P probably damaging Het
Cyp8b1 T C 9: 121,914,995 K424E probably damaging Het
Dicer1 G A 12: 104,691,610 Q1902* probably null Het
Dst T A 1: 34,247,653 L544Q probably damaging Het
Esrp2 T C 8: 106,132,233 T591A probably benign Het
Gap43 C T 16: 42,292,153 E82K probably benign Het
Kif17 G A 4: 138,269,086 V125I probably benign Het
Lancl2 T C 6: 57,732,322 S370P probably damaging Het
Macf1 T C 4: 123,493,160 I203V possibly damaging Het
Mphosph9 A G 5: 124,283,624 probably benign Het
Ncapg A G 5: 45,672,384 I143V possibly damaging Het
Nr3c1 A G 18: 39,486,637 V199A probably benign Het
Obscn T A 11: 59,064,417 N3890I possibly damaging Het
Olfr130 A G 17: 38,068,095 N308S probably benign Het
Olfr669 T A 7: 104,938,991 V155E possibly damaging Het
Olfr92 A T 17: 37,111,809 Y58N probably damaging Het
Olfr951 A G 9: 39,393,818 H6R probably benign Het
Palmd C A 3: 116,927,188 E166* probably null Het
Pdzd2 T C 15: 12,445,664 E327G probably damaging Het
Pex13 T C 11: 23,656,111 T40A probably benign Het
Pkd2 T C 5: 104,498,884 probably benign Het
Plb1 A G 5: 32,317,123 T643A probably damaging Het
Prlr T A 15: 10,329,171 D577E probably benign Het
Slc44a3 A G 3: 121,527,128 C75R probably damaging Het
Susd6 A T 12: 80,874,319 N230I possibly damaging Het
Tbx10 A G 19: 3,998,227 R251G probably damaging Het
Ttc30a1 T C 2: 75,980,516 I408V probably benign Het
Uap1l1 A G 2: 25,363,804 probably null Het
Ugt2b5 A G 5: 87,136,209 V308A possibly damaging Het
Usp28 C A 9: 49,025,873 H147Q probably benign Het
Vmn1r203 T C 13: 22,524,277 I76T possibly damaging Het
Vmn2r104 A G 17: 20,042,896 I101T possibly damaging Het
Vmn2r17 T A 5: 109,453,140 L768H probably damaging Het
Other mutations in Ces1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Ces1a APN 8 93020467 missense probably damaging 1.00
IGL00556:Ces1a APN 8 93045059 missense probably benign 0.03
IGL00841:Ces1a APN 8 93039536 nonsense probably null
IGL01510:Ces1a APN 8 93045098 missense probably damaging 1.00
IGL01511:Ces1a APN 8 93045098 missense probably damaging 1.00
IGL01518:Ces1a APN 8 93045098 missense probably damaging 1.00
IGL01519:Ces1a APN 8 93045098 missense probably damaging 1.00
IGL01520:Ces1a APN 8 93045098 missense probably damaging 1.00
IGL01526:Ces1a APN 8 93045098 missense probably damaging 1.00
IGL01828:Ces1a APN 8 93025201 missense probably damaging 0.96
IGL01934:Ces1a APN 8 93032650 missense probably damaging 0.99
IGL02456:Ces1a APN 8 93039498 missense possibly damaging 0.56
IGL02712:Ces1a APN 8 93036040 missense probably damaging 1.00
IGL02982:Ces1a APN 8 93044975 missense probably damaging 1.00
IGL03178:Ces1a APN 8 93020889 missense probably damaging 1.00
IGL03377:Ces1a APN 8 93039488 missense probably damaging 1.00
R0556:Ces1a UTSW 8 93045112 missense probably benign 0.01
R0613:Ces1a UTSW 8 93025581 missense probably benign 0.11
R0627:Ces1a UTSW 8 93042043 missense probably benign 0.03
R0686:Ces1a UTSW 8 93022449 missense probably damaging 1.00
R0724:Ces1a UTSW 8 93039513 missense probably damaging 0.98
R0930:Ces1a UTSW 8 93022416 missense probably benign 0.00
R1063:Ces1a UTSW 8 93022416 missense probably benign 0.00
R1215:Ces1a UTSW 8 93032690 missense probably damaging 1.00
R1381:Ces1a UTSW 8 93034031 missense probably damaging 0.98
R1417:Ces1a UTSW 8 93022416 missense probably benign 0.00
R1850:Ces1a UTSW 8 93027326 missense probably damaging 1.00
R2072:Ces1a UTSW 8 93048075 missense probably benign 0.29
R2074:Ces1a UTSW 8 93048075 missense probably benign 0.29
R2075:Ces1a UTSW 8 93048075 missense probably benign 0.29
R2114:Ces1a UTSW 8 93039551 missense possibly damaging 0.93
R2213:Ces1a UTSW 8 93025225 missense probably damaging 1.00
R2346:Ces1a UTSW 8 93025319 missense probably benign 0.07
R2347:Ces1a UTSW 8 93025319 missense probably benign 0.07
R2483:Ces1a UTSW 8 93027341 missense probably damaging 1.00
R4515:Ces1a UTSW 8 93020904 missense probably damaging 1.00
R4587:Ces1a UTSW 8 93025304 missense probably damaging 1.00
R4691:Ces1a UTSW 8 93032659 missense probably benign 0.00
R4992:Ces1a UTSW 8 93045022 missense probably benign 0.08
R5074:Ces1a UTSW 8 93032675 missense possibly damaging 0.77
R6086:Ces1a UTSW 8 93027353 missense probably benign 0.03
R7390:Ces1a UTSW 8 93044841 splice site probably null
R8926:Ces1a UTSW 8 93025213 missense probably benign 0.05
R9365:Ces1a UTSW 8 93048099 missense probably benign 0.00
R9582:Ces1a UTSW 8 93039528 missense probably benign 0.33
R9636:Ces1a UTSW 8 93032635 missense probably benign 0.17
Z1088:Ces1a UTSW 8 93025607 missense probably benign 0.02
Z1176:Ces1a UTSW 8 93036085 missense probably benign 0.45
Posted On 2015-04-16