Incidental Mutation 'IGL03264:Ces5a'
ID415003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces5a
Ensembl Gene ENSMUSG00000058019
Gene Namecarboxylesterase 5A
SynonymsCes7, 1700122C07Rik, LOC244598, 1700081L16Rik, cauxin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL03264
Quality Score
Status
Chromosome8
Chromosomal Location93499064-93535830 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93502270 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 444 (N444S)
Ref Sequence ENSEMBL: ENSMUSP00000148481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077816] [ENSMUST00000212009]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077816
AA Change: N444S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000076988
Gene: ENSMUSG00000058019
AA Change: N444S

DomainStartEndE-ValueType
Pfam:COesterase 10 539 3.2e-157 PFAM
Pfam:Abhydrolase_3 141 238 9.5e-7 PFAM
low complexity region 552 575 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000080391
SMART Domains Protein: ENSMUSP00000079254
Gene: ENSMUSG00000058019

DomainStartEndE-ValueType
Pfam:COesterase 83 208 2.3e-23 PFAM
low complexity region 221 244 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000212009
AA Change: N444S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212690
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A T 3: 37,002,635 I3152F probably damaging Het
9130019O22Rik A G 7: 127,385,639 probably benign Het
Abcg1 T G 17: 31,064,454 S38A probably benign Het
Alkbh1 T G 12: 87,431,427 D238A probably damaging Het
Arhgef17 A T 7: 100,880,013 D1531E probably benign Het
Cacng3 G T 7: 122,671,957 G62W probably damaging Het
Cdh22 T C 2: 165,116,173 I625V probably benign Het
Chst13 A T 6: 90,309,211 Y256* probably null Het
Clcn5 T A X: 7,178,374 H177L probably benign Het
Dars G A 1: 128,413,690 R63C probably damaging Het
Dcun1d4 A G 5: 73,520,229 S84G probably benign Het
Dcxr T C 11: 120,726,472 N82D probably damaging Het
Eef1a2 C A 2: 181,148,734 K376N possibly damaging Het
Efhc1 G A 1: 20,967,491 M297I probably benign Het
Etfb G T 7: 43,452,473 V64F probably damaging Het
Fam135b A C 15: 71,462,788 N852K probably benign Het
Gigyf2 T C 1: 87,449,068 probably benign Het
Gm12794 A T 4: 101,941,132 Q100L probably damaging Het
Gria4 T C 9: 4,513,288 K274E probably benign Het
Itgae A G 11: 73,115,574 E356G possibly damaging Het
Med12l C T 3: 59,301,367 Q2139* probably null Het
Mrvi1 A T 7: 110,926,346 S200T probably benign Het
Plxna4 A G 6: 32,178,402 F1536L possibly damaging Het
Rmnd5a A G 6: 71,393,135 I389T probably damaging Het
Rnf128 T G X: 139,611,236 V144G probably damaging Het
Rpgrip1 A G 14: 52,140,652 T486A possibly damaging Het
Rps6kc1 T C 1: 190,871,829 T199A probably benign Het
Skint5 T A 4: 113,486,657 D1338V unknown Het
Slc35g2 A T 9: 100,552,646 I324K possibly damaging Het
Slc4a5 G A 6: 83,261,525 R225H probably damaging Het
Srgap3 A T 6: 112,816,675 H113Q probably damaging Het
Stpg2 A C 3: 139,309,209 K378N possibly damaging Het
Svep1 A G 4: 58,066,422 probably benign Het
Utp11 T C 4: 124,679,728 K218E probably damaging Het
Vmn2r53 T A 7: 12,581,892 I667F possibly damaging Het
Wdfy3 A G 5: 101,900,150 L1763P probably damaging Het
Wnt2 A G 6: 17,989,960 Y313H probably benign Het
Zfp638 T C 6: 83,946,247 S676P probably benign Het
Other mutations in Ces5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Ces5a APN 8 93525544 critical splice donor site probably null
IGL01520:Ces5a APN 8 93519578 missense probably benign 0.08
IGL01674:Ces5a APN 8 93502219 missense probably damaging 1.00
IGL02257:Ces5a APN 8 93525598 missense probably benign 0.00
IGL02456:Ces5a APN 8 93528644 splice site probably benign
IGL03027:Ces5a APN 8 93523114 splice site probably null
IGL03051:Ces5a APN 8 93528598 missense probably damaging 1.00
IGL03290:Ces5a APN 8 93519632 missense probably damaging 1.00
R0115:Ces5a UTSW 8 93502183 missense probably damaging 0.98
R0124:Ces5a UTSW 8 93528555 missense probably damaging 1.00
R0521:Ces5a UTSW 8 93525658 missense probably damaging 1.00
R1404:Ces5a UTSW 8 93502181 missense probably damaging 1.00
R1404:Ces5a UTSW 8 93502181 missense probably damaging 1.00
R1524:Ces5a UTSW 8 93525665 missense probably damaging 0.96
R1843:Ces5a UTSW 8 93514231 missense probably damaging 1.00
R2029:Ces5a UTSW 8 93534577 missense probably damaging 1.00
R2135:Ces5a UTSW 8 93499741 missense probably benign 0.33
R2146:Ces5a UTSW 8 93534699 missense probably benign 0.03
R2973:Ces5a UTSW 8 93528504 missense probably damaging 1.00
R3755:Ces5a UTSW 8 93528502 missense probably benign 0.15
R4755:Ces5a UTSW 8 93535677 missense probably benign 0.39
R5072:Ces5a UTSW 8 93534668 missense probably damaging 1.00
R5278:Ces5a UTSW 8 93525638 missense probably damaging 1.00
R5419:Ces5a UTSW 8 93499431 missense unknown
R5825:Ces5a UTSW 8 93525667 missense probably damaging 1.00
R6318:Ces5a UTSW 8 93534583 missense probably damaging 1.00
R6925:Ces5a UTSW 8 93523057 splice site probably null
R6950:Ces5a UTSW 8 93530774 missense probably benign 0.10
R7148:Ces5a UTSW 8 93502322 missense probably damaging 1.00
R7256:Ces5a UTSW 8 93499526 missense probably benign 0.13
R7290:Ces5a UTSW 8 93534683 missense probably damaging 1.00
R7459:Ces5a UTSW 8 93535741 start gained probably benign
R7674:Ces5a UTSW 8 93514269 missense probably damaging 1.00
R7815:Ces5a UTSW 8 93520995 missense possibly damaging 0.79
R8150:Ces5a UTSW 8 93530802 missense probably damaging 1.00
R8771:Ces5a UTSW 8 93528621 missense possibly damaging 0.85
X0024:Ces5a UTSW 8 93514213 missense probably damaging 1.00
Posted On2016-08-02