Incidental Mutation 'IGL00504:Cela3b'
ID9592
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cela3b
Ensembl Gene ENSMUSG00000023433
Gene Namechymotrypsin-like elastase family, member 3B
Synonyms2310074F01Rik, Ela3b, Ela3, 0910001F22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL00504
Quality Score
Status
Chromosome4
Chromosomal Location137420999-137430540 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 137423281 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 202 (V202E)
Ref Sequence ENSEMBL: ENSMUSP00000099581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102522]
Predicted Effect probably damaging
Transcript: ENSMUST00000102522
AA Change: V202E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099581
Gene: ENSMUSG00000023433
AA Change: V202E

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 27 262 8.81e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134565
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atpaf2 T C 11: 60,405,803 D168G probably damaging Het
Bcorl1 T G X: 48,406,042 V1730G probably damaging Het
Col3a1 A G 1: 45,347,135 D145G probably damaging Het
Cpsf6 A T 10: 117,366,129 probably benign Het
Dock5 A G 14: 67,786,889 probably benign Het
Folh1 T G 7: 86,734,143 R465S probably damaging Het
Garem1 T A 18: 21,148,657 Q214L probably damaging Het
Ldb2 T A 5: 44,541,684 probably null Het
Lmln A G 16: 33,083,065 N283S probably benign Het
Micalcl A G 7: 112,382,145 N508S possibly damaging Het
Obsl1 C A 1: 75,490,874 G1419C probably benign Het
Pafah1b3 T A 7: 25,296,189 T115S probably benign Het
Pcdhb5 C A 18: 37,322,109 A514E probably damaging Het
Prl8a8 G T 13: 27,509,610 T144K probably damaging Het
Rasgrp1 T A 2: 117,305,791 K105* probably null Het
Rin1 T C 19: 5,052,410 S316P probably benign Het
Serpinb3b A T 1: 107,157,681 F110Y probably benign Het
Sh3bgrl2 C T 9: 83,577,554 P55L probably benign Het
Slc10a2 T A 8: 5,091,668 S239C probably damaging Het
Slc10a2 C A 8: 5,091,667 S239I probably benign Het
Slc6a15 T C 10: 103,389,141 V30A probably benign Het
Sncaip T G 18: 52,884,963 probably null Het
Tcerg1l T C 7: 138,209,804 R554G probably damaging Het
Tfap2b A G 1: 19,214,026 S35G possibly damaging Het
Tor1a A G 2: 30,967,190 I116T probably damaging Het
Tprgl A G 4: 154,158,433 S188P probably damaging Het
Vcan A T 13: 89,691,275 V2050E possibly damaging Het
Zcchc11 G A 4: 108,550,728 R1398H probably damaging Het
Zfp280d T C 9: 72,322,571 C362R probably damaging Het
Other mutations in Cela3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Cela3b APN 4 137421969 missense probably benign
IGL01301:Cela3b APN 4 137423843 critical splice donor site probably null
IGL01613:Cela3b APN 4 137425071 missense possibly damaging 0.66
ANU18:Cela3b UTSW 4 137423843 critical splice donor site probably null
R0669:Cela3b UTSW 4 137428530 missense probably benign 0.06
R2937:Cela3b UTSW 4 137423263 missense probably benign 0.01
R2938:Cela3b UTSW 4 137423263 missense probably benign 0.01
R4327:Cela3b UTSW 4 137423931 missense probably benign 0.26
R4451:Cela3b UTSW 4 137421044 utr 3 prime probably benign
R5059:Cela3b UTSW 4 137424870 missense probably benign 0.00
R5707:Cela3b UTSW 4 137424856 missense probably damaging 1.00
R7952:Cela3b UTSW 4 137421908 missense probably benign 0.27
X0019:Cela3b UTSW 4 137423310 missense probably damaging 1.00
X0019:Cela3b UTSW 4 137423311 missense probably damaging 1.00
Z1177:Cela3b UTSW 4 137428484 missense probably damaging 0.99
Posted On2012-12-06