Incidental Mutation 'IGL03066:Cela2a'
ID 409696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cela2a
Ensembl Gene ENSMUSG00000058579
Gene Name chymotrypsin-like elastase family, member 2A
Synonyms Ela-2, Ela2, Ela2a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL03066
Quality Score
Status
Chromosome 4
Chromosomal Location 141814962-141826160 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 141821454 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 124 (I124F)
Ref Sequence ENSEMBL: ENSMUSP00000099539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102481]
AlphaFold P05208
Predicted Effect probably damaging
Transcript: ENSMUST00000102481
AA Change: I124F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099539
Gene: ENSMUSG00000058579
AA Change: I124F

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 30 264 2.75e-95 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155826
Predicted Effect probably benign
Transcript: ENSMUST00000176781
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a serine protease enzyme that hydrolyzes elastin. This gene is highly expressed in the pancreatic acinar cells where the encoded preproprotein undergoes processing including signal peptide cleavage to generate an inactive zymogen. The removal of N-terminal activation peptide from the zymogen by trypsin generates active elastase enzyme. This gene is also expressed in the mouse epidermis where it participates in pro-filaggrin processing. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brd4 A C 17: 32,199,088 probably benign Het
Cd209d C A 8: 3,878,437 probably null Het
Cnot2 A T 10: 116,499,357 N245K probably benign Het
Cpt2 A G 4: 107,907,986 F148L probably benign Het
Ctsj A C 13: 61,004,488 H21Q possibly damaging Het
Cul4a A G 8: 13,133,776 N388S probably benign Het
Dnah12 A G 14: 26,697,398 D147G probably benign Het
Dnhd1 A G 7: 105,719,882 T4287A probably damaging Het
Dock10 C A 1: 80,585,041 C534F probably benign Het
Efcab14 A G 4: 115,738,804 E49G probably benign Het
Fancm G T 12: 65,125,114 E86* probably null Het
Galnt17 A T 5: 130,900,648 S440R probably benign Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Lctl T G 9: 64,117,735 M1R probably null Het
Llgl1 A G 11: 60,706,034 T154A possibly damaging Het
Mink1 G T 11: 70,608,889 V750F probably benign Het
Mroh7 A G 4: 106,692,398 V950A possibly damaging Het
Myg1 G A 15: 102,334,366 probably benign Het
Olfr1265 A T 2: 90,037,434 I172F probably damaging Het
Olfr1415 T A 1: 92,491,583 R57S probably damaging Het
Olfr77 A G 9: 19,920,371 H54R probably benign Het
Pask A T 1: 93,330,866 S253R probably benign Het
Pkd1 C A 17: 24,586,234 H3253Q probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Rapgef4 A G 2: 72,141,179 probably benign Het
Rnf169 G T 7: 99,925,553 R612S possibly damaging Het
Sclt1 A T 3: 41,717,843 D104E probably benign Het
Shh G T 5: 28,461,371 D172E probably damaging Het
Sil1 G T 18: 35,269,206 probably benign Het
Slc19a3 A G 1: 83,014,836 I388T probably damaging Het
Spink5 A G 18: 44,016,390 Y946C probably damaging Het
Sulf1 A T 1: 12,807,944 I219F probably damaging Het
Tcf3 T C 10: 80,413,045 D529G probably damaging Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Txnip G A 3: 96,559,618 E203K probably damaging Het
Ubc G T 5: 125,388,263 probably benign Het
Ubxn4 A T 1: 128,260,854 probably null Het
Usp16 T C 16: 87,471,833 V284A probably damaging Het
Vmn2r6 T A 3: 64,565,153 N49I probably damaging Het
Ythdf1 A T 2: 180,911,546 I292N probably damaging Het
Zfp128 A G 7: 12,890,117 I137M probably benign Het
Other mutations in Cela2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0317:Cela2a UTSW 4 141821700 critical splice donor site probably null
R1372:Cela2a UTSW 4 141819094 missense probably damaging 1.00
R1619:Cela2a UTSW 4 141825941 critical splice donor site probably null
R1719:Cela2a UTSW 4 141817946 missense probably damaging 0.98
R2155:Cela2a UTSW 4 141818039 splice site probably null
R2323:Cela2a UTSW 4 141826079 intron probably benign
R4705:Cela2a UTSW 4 141821411 missense probably benign 0.00
R4851:Cela2a UTSW 4 141825591 missense probably benign 0.03
R4880:Cela2a UTSW 4 141822287 missense probably benign 0.01
R5704:Cela2a UTSW 4 141825988 intron probably benign
R5809:Cela2a UTSW 4 141825553 missense probably benign 0.00
R6710:Cela2a UTSW 4 141822243 missense probably damaging 1.00
R7946:Cela2a UTSW 4 141822306 missense possibly damaging 0.74
RF011:Cela2a UTSW 4 141821715 missense probably benign
Z1176:Cela2a UTSW 4 141821391 missense probably damaging 1.00
Posted On 2016-08-02