Incidental Mutation 'IGL01613:Cela3b'
ID 92276
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cela3b
Ensembl Gene ENSMUSG00000023433
Gene Name chymotrypsin-like elastase family, member 3B
Synonyms Ela3b, 0910001F22Rik, 2310074F01Rik, Ela3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL01613
Quality Score
Status
Chromosome 4
Chromosomal Location 137148319-137157831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137152382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 65 (D65G)
Ref Sequence ENSEMBL: ENSMUSP00000099581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102522]
AlphaFold Q9CQ52
Predicted Effect possibly damaging
Transcript: ENSMUST00000102522
AA Change: D65G

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099581
Gene: ENSMUSG00000023433
AA Change: D65G

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,589,716 (GRCm39) M446R possibly damaging Het
Abca16 A G 7: 120,140,500 (GRCm39) N1599S probably benign Het
Ankib1 G A 5: 3,763,146 (GRCm39) Q528* probably null Het
Ano10 A T 9: 122,088,606 (GRCm39) L347M possibly damaging Het
Bag6 T C 17: 35,361,992 (GRCm39) probably benign Het
Bpnt1 T C 1: 185,086,191 (GRCm39) V182A possibly damaging Het
Capn13 G T 17: 73,638,053 (GRCm39) T450N probably benign Het
Cbr3 A T 16: 93,480,331 (GRCm39) E40V probably benign Het
Cdk10 T C 8: 123,955,126 (GRCm39) I159T probably damaging Het
Csf2rb T G 15: 78,219,502 (GRCm39) probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dpp9 T C 17: 56,497,713 (GRCm39) H687R probably benign Het
Elovl1 T C 4: 118,288,467 (GRCm39) V108A probably benign Het
Emb T A 13: 117,408,614 (GRCm39) N318K probably damaging Het
Ermp1 A G 19: 29,617,339 (GRCm39) L36P probably damaging Het
Esco2 T G 14: 66,064,044 (GRCm39) H380P possibly damaging Het
Gm9747 G A 1: 82,211,809 (GRCm39) probably benign Het
Golga1 A G 2: 38,910,138 (GRCm39) M603T probably benign Het
Hsph1 A G 5: 149,550,743 (GRCm39) V411A probably benign Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Ints11 T C 4: 155,969,655 (GRCm39) probably null Het
Jakmip1 G T 5: 37,258,112 (GRCm39) A253S probably damaging Het
Met A G 6: 17,540,576 (GRCm39) Y834C probably damaging Het
Mgl2 A G 11: 70,024,984 (GRCm39) T2A probably benign Het
Myh2 G T 11: 67,088,170 (GRCm39) V1929L probably benign Het
Myh8 T C 11: 67,192,536 (GRCm39) S1472P probably benign Het
Myo1e T C 9: 70,248,555 (GRCm39) probably benign Het
Ndufaf7 A G 17: 79,244,931 (GRCm39) I17V probably benign Het
Or4a47 T C 2: 89,666,152 (GRCm39) T46A probably damaging Het
Or5ak22 C T 2: 85,230,515 (GRCm39) D121N probably damaging Het
Or5h25 A T 16: 58,930,284 (GRCm39) S230T probably damaging Het
Or6c6c A G 10: 129,541,492 (GRCm39) I248M probably benign Het
Or7g18 T A 9: 18,786,617 (GRCm39) probably benign Het
Or8b50 A G 9: 38,517,850 (GRCm39) I30V probably null Het
Or8k1 T G 2: 86,047,505 (GRCm39) D183A probably damaging Het
Ppef2 T C 5: 92,383,679 (GRCm39) E477G probably benign Het
Scmh1 T A 4: 120,387,097 (GRCm39) probably benign Het
Scn1a C A 2: 66,116,281 (GRCm39) D1473Y probably damaging Het
Sdr42e1 C T 8: 118,389,676 (GRCm39) V322I probably benign Het
Slco1a7 G T 6: 141,658,940 (GRCm39) T552K possibly damaging Het
Spta1 G A 1: 174,035,960 (GRCm39) A1089T probably damaging Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 (GRCm39) F108L possibly damaging Het
Ttn T C 2: 76,805,308 (GRCm39) N177S probably benign Het
Tyk2 T C 9: 21,031,872 (GRCm39) D401G probably damaging Het
Vav1 T C 17: 57,614,067 (GRCm39) F650L possibly damaging Het
Wdr12 T C 1: 60,119,718 (GRCm39) H385R probably damaging Het
Xab2 T C 8: 3,660,880 (GRCm39) M745V probably benign Het
Other mutations in Cela3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Cela3b APN 4 137,150,592 (GRCm39) missense probably damaging 1.00
IGL00708:Cela3b APN 4 137,149,280 (GRCm39) missense probably benign
IGL01301:Cela3b APN 4 137,151,154 (GRCm39) critical splice donor site probably null
ANU18:Cela3b UTSW 4 137,151,154 (GRCm39) critical splice donor site probably null
R0669:Cela3b UTSW 4 137,155,841 (GRCm39) missense probably benign 0.06
R2937:Cela3b UTSW 4 137,150,574 (GRCm39) missense probably benign 0.01
R2938:Cela3b UTSW 4 137,150,574 (GRCm39) missense probably benign 0.01
R4327:Cela3b UTSW 4 137,151,242 (GRCm39) missense probably benign 0.26
R4451:Cela3b UTSW 4 137,148,355 (GRCm39) utr 3 prime probably benign
R5059:Cela3b UTSW 4 137,152,181 (GRCm39) missense probably benign 0.00
R5707:Cela3b UTSW 4 137,152,167 (GRCm39) missense probably damaging 1.00
R7952:Cela3b UTSW 4 137,149,219 (GRCm39) missense probably benign 0.27
R9045:Cela3b UTSW 4 137,152,110 (GRCm39) missense possibly damaging 0.72
R9339:Cela3b UTSW 4 137,152,355 (GRCm39) missense probably damaging 1.00
X0019:Cela3b UTSW 4 137,150,622 (GRCm39) missense probably damaging 1.00
X0019:Cela3b UTSW 4 137,150,621 (GRCm39) missense probably damaging 1.00
Z1177:Cela3b UTSW 4 137,155,795 (GRCm39) missense probably damaging 0.99
Posted On 2013-12-09