Incidental Mutation 'R6666:Cela3a'
ID 526964
Institutional Source Beutler Lab
Gene Symbol Cela3a
Ensembl Gene ENSMUSG00000078520
Gene Name chymotrypsin-like elastase family, member 3A
Synonyms Gm13011
MMRRC Submission 044786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6666 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 137128865-137137102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137131175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 188 (S188T)
Ref Sequence ENSEMBL: ENSMUSP00000024200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024200]
AlphaFold A2A9U8
Predicted Effect probably benign
Transcript: ENSMUST00000024200
AA Change: S188T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000024200
Gene: ENSMUSG00000078520
AA Change: S188T

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 27 276 2.6e-82 SMART
Meta Mutation Damage Score 0.1364 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (46/46)
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 3A has little elastolytic activity. Like most of the human elastases, elastase 3A 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 3A preferentially cleaves proteins after alanine residues. Elastase 3A 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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik C A 10: 21,469,228 (GRCm39) probably null Het
Arhgap24 A G 5: 102,700,163 (GRCm39) probably null Het
Atp12a G T 14: 56,610,821 (GRCm39) V322L probably benign Het
Capza1 A C 3: 104,735,922 (GRCm39) probably null Het
Cplx1 G T 5: 108,668,031 (GRCm39) Y123* probably null Het
Ddias A T 7: 92,507,289 (GRCm39) D875E probably benign Het
Dnah3 T C 7: 119,670,172 (GRCm39) E715G probably benign Het
Fam83e A G 7: 45,376,426 (GRCm39) T380A probably benign Het
Fancd2 T C 6: 113,562,470 (GRCm39) V1270A probably damaging Het
Foxh1 A G 15: 76,552,613 (GRCm39) F367S probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gprc5a A G 6: 135,056,473 (GRCm39) I307V probably benign Het
Gtpbp3 A G 8: 71,943,582 (GRCm39) D212G possibly damaging Het
Helb A G 10: 119,920,856 (GRCm39) V1029A probably damaging Het
Il22ra1 A T 4: 135,477,772 (GRCm39) H281L probably damaging Het
Il2rb TAGTCA TAGTCAGTCA 15: 78,366,034 (GRCm39) probably null Het
Itga3 T C 11: 94,956,652 (GRCm39) T170A probably benign Het
Kdm3a T C 6: 71,588,974 (GRCm39) E345G probably benign Het
Kif11 T C 19: 37,398,214 (GRCm39) I680T probably benign Het
Klhl28 C T 12: 64,990,301 (GRCm39) D547N probably benign Het
Limk2 T A 11: 3,310,493 (GRCm39) E49D probably damaging Het
Lmbrd2 T A 15: 9,151,656 (GRCm39) F120I probably benign Het
Mefv T A 16: 3,525,862 (GRCm39) N802Y possibly damaging Het
Ms4a2 C T 19: 11,595,787 (GRCm39) S168N probably benign Het
Myct1 T C 10: 5,554,333 (GRCm39) S67P probably damaging Het
Myh4 A G 11: 67,142,638 (GRCm39) E933G probably damaging Het
Naif1 C A 2: 32,344,863 (GRCm39) T189K probably damaging Het
Nppb A G 4: 148,070,463 (GRCm39) I11V probably benign Het
Nr3c1 T C 18: 39,620,200 (GRCm39) D29G probably damaging Het
Nrcam A G 12: 44,618,338 (GRCm39) Y782C probably damaging Het
Or1af1 A T 2: 37,110,331 (GRCm39) I277F probably damaging Het
Or51e1 T C 7: 102,359,135 (GRCm39) probably null Het
Or9m1 T A 2: 87,733,852 (GRCm39) H56L probably damaging Het
Parp1 A G 1: 180,413,516 (GRCm39) T375A probably benign Het
Pcdhgb1 G T 18: 37,814,546 (GRCm39) E346* probably null Het
Pds5b G T 5: 150,701,631 (GRCm39) S754I probably damaging Het
Scnn1g G A 7: 121,366,611 (GRCm39) D603N probably benign Het
Slitrk5 A G 14: 111,917,534 (GRCm39) D386G probably damaging Het
Trmt1 T C 8: 85,425,083 (GRCm39) L493P probably damaging Het
Vrk1 A G 12: 106,024,910 (GRCm39) E262G probably damaging Het
Wfs1 T C 5: 37,124,963 (GRCm39) T567A possibly damaging Het
Zbtb11 A T 16: 55,826,615 (GRCm39) K846I probably damaging Het
Zfp318 A G 17: 46,720,140 (GRCm39) T1113A probably benign Het
Zfp654 A T 16: 64,606,596 (GRCm39) S535R probably benign Het
Other mutations in Cela3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02830:Cela3a APN 4 137,128,946 (GRCm39) missense probably benign 0.00
IGL02869:Cela3a APN 4 137,131,145 (GRCm39) missense probably benign 0.13
IGL02968:Cela3a APN 4 137,131,132 (GRCm39) missense probably damaging 1.00
R0496:Cela3a UTSW 4 137,131,779 (GRCm39) missense probably damaging 1.00
R1681:Cela3a UTSW 4 137,129,995 (GRCm39) critical splice acceptor site probably null
R2092:Cela3a UTSW 4 137,131,737 (GRCm39) missense probably benign 0.03
R2277:Cela3a UTSW 4 137,133,187 (GRCm39) missense possibly damaging 0.88
R4766:Cela3a UTSW 4 137,129,986 (GRCm39) missense unknown
R4960:Cela3a UTSW 4 137,129,959 (GRCm39) nonsense probably null
R6842:Cela3a UTSW 4 137,132,979 (GRCm39) missense probably benign 0.00
R6957:Cela3a UTSW 4 137,135,441 (GRCm39) missense probably damaging 1.00
R7347:Cela3a UTSW 4 137,129,917 (GRCm39) missense possibly damaging 0.95
R7425:Cela3a UTSW 4 137,132,899 (GRCm39) missense probably benign 0.00
R7499:Cela3a UTSW 4 137,132,950 (GRCm39) missense probably damaging 0.96
R7543:Cela3a UTSW 4 137,129,883 (GRCm39) missense probably damaging 0.99
R7702:Cela3a UTSW 4 137,135,501 (GRCm39) missense probably benign 0.00
R8465:Cela3a UTSW 4 137,131,185 (GRCm39) nonsense probably null
R8971:Cela3a UTSW 4 137,133,222 (GRCm39) missense probably benign
R9517:Cela3a UTSW 4 137,131,825 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCCTGGACACTGCATGAG -3'
(R):5'- CCCAAACACGAGTATGATCAGTG -3'

Sequencing Primer
(F):5'- GAGGCAAACCAAGTATGTTTATCCAC -3'
(R):5'- GCCCACTCTGTGCCCAATG -3'
Posted On 2018-07-23