Incidental Mutation 'R4515:Ces1a'
ID 332857
Institutional Source Beutler Lab
Gene Symbol Ces1a
Ensembl Gene ENSMUSG00000071047
Gene Name carboxylesterase 1A
Synonyms Gm4976
MMRRC Submission 041589-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4515 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 93746842-93774820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93747532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 500 (N500Y)
Ref Sequence ENSEMBL: ENSMUSP00000092836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095211]
AlphaFold E9PYP1
Predicted Effect probably damaging
Transcript: ENSMUST00000095211
AA Change: N500Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: N500Y

DomainStartEndE-ValueType
Pfam:COesterase 1 545 5.7e-169 PFAM
Pfam:Abhydrolase_3 136 286 8.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210764
Meta Mutation Damage Score 0.8292 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (65/68)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,646,006 (GRCm39) K630N probably damaging Het
Acss2 C A 2: 155,398,283 (GRCm39) L335I probably benign Het
Alg6 A T 4: 99,641,023 (GRCm39) probably benign Het
Atp8b3 C T 10: 80,359,681 (GRCm39) M984I probably benign Het
Bsn G T 9: 107,981,277 (GRCm39) probably null Het
Ccdc88a T C 11: 29,432,651 (GRCm39) I1219T probably benign Het
Cdhr4 G A 9: 107,870,150 (GRCm39) E52K probably benign Het
Chd3 G T 11: 69,240,703 (GRCm39) R1579S probably benign Het
Chrnb3 T C 8: 27,875,118 (GRCm39) L39P probably damaging Het
Ckm A G 7: 19,154,209 (GRCm39) K319E probably damaging Het
Cnot6 C T 11: 49,593,363 (GRCm39) probably null Het
Copg1 A G 6: 87,884,528 (GRCm39) probably benign Het
Dbn1 A T 13: 55,624,042 (GRCm39) I350N possibly damaging Het
Dnah2 A G 11: 69,356,457 (GRCm39) S2135P possibly damaging Het
Dsg2 C A 18: 20,734,444 (GRCm39) D807E probably benign Het
Foxi1 A G 11: 34,157,972 (GRCm39) F18L probably damaging Het
Galnt3 C A 2: 65,923,954 (GRCm39) R438L probably damaging Het
Glod4 T A 11: 76,134,397 (GRCm39) D25V probably damaging Het
Golga4 T A 9: 118,388,076 (GRCm39) S1733T probably benign Het
H2-M10.3 C T 17: 36,678,722 (GRCm39) probably null Het
Hemgn T C 4: 46,396,477 (GRCm39) E253G probably damaging Het
Itsn1 G A 16: 91,696,537 (GRCm39) V47M probably damaging Het
Kif5b A G 18: 6,208,257 (GRCm39) V947A probably benign Het
Kif9 A G 9: 110,318,935 (GRCm39) H133R probably benign Het
Lce1l T C 3: 92,757,781 (GRCm39) T26A unknown Het
Macf1 T C 4: 123,387,781 (GRCm39) E1172G probably damaging Het
Nkx3-2 C T 5: 41,921,281 (GRCm39) V3M probably damaging Het
Nr2e1 G A 10: 42,454,187 (GRCm39) T49I probably benign Het
Oc90 A G 15: 65,764,242 (GRCm39) L138P probably damaging Het
Or7g12 T G 9: 18,899,278 (GRCm39) probably null Het
Or8g34 C T 9: 39,373,527 (GRCm39) R264* probably null Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Paqr3 T A 5: 97,251,220 (GRCm39) N168I possibly damaging Het
Pcdhac1 T A 18: 37,224,432 (GRCm39) I415N probably damaging Het
Pdik1l T C 4: 134,006,207 (GRCm39) N75S probably damaging Het
Pik3r4 A G 9: 105,549,924 (GRCm39) H1005R probably damaging Het
Plekhn1 T C 4: 156,309,988 (GRCm39) S109G probably damaging Het
Prkch A G 12: 73,749,612 (GRCm39) T402A possibly damaging Het
Ptger4 C A 15: 5,271,860 (GRCm39) R253L probably damaging Het
Rabac1 A T 7: 24,669,585 (GRCm39) Y173* probably null Het
Rapsn G A 2: 90,873,557 (GRCm39) V288M possibly damaging Het
Rnf26rt C T 6: 76,473,792 (GRCm39) V275I probably benign Het
Sec31a A G 5: 100,513,817 (GRCm39) S993P probably damaging Het
Septin4 A G 11: 87,458,883 (GRCm39) H419R probably benign Het
Serpina9 T A 12: 103,967,553 (GRCm39) M281L probably benign Het
Serpine1 G A 5: 137,098,322 (GRCm39) A117V probably damaging Het
Sh3tc2 A G 18: 62,120,764 (GRCm39) probably null Het
Sipa1l2 T C 8: 126,218,965 (GRCm39) D124G probably benign Het
Slc6a12 T A 6: 121,330,489 (GRCm39) probably null Het
Stk11 A G 10: 79,952,435 (GRCm39) probably benign Het
Tcaf3 A G 6: 42,566,930 (GRCm39) Y720H probably damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Tmprss11a C T 5: 86,568,055 (GRCm39) R224K probably damaging Het
Tmprss15 C T 16: 78,754,244 (GRCm39) S988N probably benign Het
Txn2 A T 15: 77,799,643 (GRCm39) probably null Het
Ugt1a10 T A 1: 87,983,919 (GRCm39) V239E probably damaging Het
Vmn2r102 A G 17: 19,901,475 (GRCm39) Y534C probably damaging Het
Vmn2r78 A T 7: 86,603,466 (GRCm39) D548V probably damaging Het
Other mutations in Ces1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Ces1a APN 8 93,747,095 (GRCm39) missense probably damaging 1.00
IGL00556:Ces1a APN 8 93,771,687 (GRCm39) missense probably benign 0.03
IGL00841:Ces1a APN 8 93,766,164 (GRCm39) nonsense probably null
IGL01510:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01511:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01518:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01519:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01520:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01526:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01527:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01828:Ces1a APN 8 93,751,829 (GRCm39) missense probably damaging 0.96
IGL01934:Ces1a APN 8 93,759,278 (GRCm39) missense probably damaging 0.99
IGL02456:Ces1a APN 8 93,766,126 (GRCm39) missense possibly damaging 0.56
IGL02712:Ces1a APN 8 93,762,668 (GRCm39) missense probably damaging 1.00
IGL02982:Ces1a APN 8 93,771,603 (GRCm39) missense probably damaging 1.00
IGL03178:Ces1a APN 8 93,747,517 (GRCm39) missense probably damaging 1.00
IGL03377:Ces1a APN 8 93,766,116 (GRCm39) missense probably damaging 1.00
R0556:Ces1a UTSW 8 93,771,740 (GRCm39) missense probably benign 0.01
R0613:Ces1a UTSW 8 93,752,209 (GRCm39) missense probably benign 0.11
R0627:Ces1a UTSW 8 93,768,671 (GRCm39) missense probably benign 0.03
R0686:Ces1a UTSW 8 93,749,077 (GRCm39) missense probably damaging 1.00
R0724:Ces1a UTSW 8 93,766,141 (GRCm39) missense probably damaging 0.98
R0930:Ces1a UTSW 8 93,749,044 (GRCm39) missense probably benign 0.00
R1063:Ces1a UTSW 8 93,749,044 (GRCm39) missense probably benign 0.00
R1215:Ces1a UTSW 8 93,759,318 (GRCm39) missense probably damaging 1.00
R1381:Ces1a UTSW 8 93,760,659 (GRCm39) missense probably damaging 0.98
R1417:Ces1a UTSW 8 93,749,044 (GRCm39) missense probably benign 0.00
R1850:Ces1a UTSW 8 93,753,954 (GRCm39) missense probably damaging 1.00
R2072:Ces1a UTSW 8 93,774,703 (GRCm39) missense probably benign 0.29
R2074:Ces1a UTSW 8 93,774,703 (GRCm39) missense probably benign 0.29
R2075:Ces1a UTSW 8 93,774,703 (GRCm39) missense probably benign 0.29
R2114:Ces1a UTSW 8 93,766,179 (GRCm39) missense possibly damaging 0.93
R2213:Ces1a UTSW 8 93,751,853 (GRCm39) missense probably damaging 1.00
R2346:Ces1a UTSW 8 93,751,947 (GRCm39) missense probably benign 0.07
R2347:Ces1a UTSW 8 93,751,947 (GRCm39) missense probably benign 0.07
R2483:Ces1a UTSW 8 93,753,969 (GRCm39) missense probably damaging 1.00
R4587:Ces1a UTSW 8 93,751,932 (GRCm39) missense probably damaging 1.00
R4691:Ces1a UTSW 8 93,759,287 (GRCm39) missense probably benign 0.00
R4992:Ces1a UTSW 8 93,771,650 (GRCm39) missense probably benign 0.08
R5074:Ces1a UTSW 8 93,759,303 (GRCm39) missense possibly damaging 0.77
R6086:Ces1a UTSW 8 93,753,981 (GRCm39) missense probably benign 0.03
R7390:Ces1a UTSW 8 93,771,469 (GRCm39) splice site probably null
R8926:Ces1a UTSW 8 93,751,841 (GRCm39) missense probably benign 0.05
R9365:Ces1a UTSW 8 93,774,727 (GRCm39) missense probably benign 0.00
R9582:Ces1a UTSW 8 93,766,156 (GRCm39) missense probably benign 0.33
R9636:Ces1a UTSW 8 93,759,263 (GRCm39) missense probably benign 0.17
Z1088:Ces1a UTSW 8 93,752,235 (GRCm39) missense probably benign 0.02
Z1176:Ces1a UTSW 8 93,762,713 (GRCm39) missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- TCTGCAGGGCATTCTTCTGC -3'
(R):5'- TGTGAGTCCTAAATAGTCCAAGC -3'

Sequencing Primer
(F):5'- GCCTGCCCATTCTTAGAGAATTC -3'
(R):5'- AGCCTAACTCTTCTGCGAACG -3'
Posted On 2015-08-18