Incidental Mutation 'R2358:Cela1'
ID 247037
Institutional Source Beutler Lab
Gene Symbol Cela1
Ensembl Gene ENSMUSG00000023031
Gene Name chymotrypsin-like elastase family, member 1
Synonyms Ela1, PC-TsF, 1810062B19Rik, Ela-1, 1810009A17Rik
MMRRC Submission 040340-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R2358 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 100572303-100585801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100579109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 183 (I183T)
Ref Sequence ENSEMBL: ENSMUSP00000023775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023775] [ENSMUST00000229869] [ENSMUST00000230572] [ENSMUST00000230740] [ENSMUST00000230744]
AlphaFold Q91X79
Predicted Effect probably benign
Transcript: ENSMUST00000023775
AA Change: I183T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023775
Gene: ENSMUSG00000023031
AA Change: I183T

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 26 259 1.24e-88 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229235
Predicted Effect probably benign
Transcript: ENSMUST00000229869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229888
Predicted Effect unknown
Transcript: ENSMUST00000230312
AA Change: I120T
Predicted Effect probably benign
Transcript: ENSMUST00000230572
Predicted Effect probably benign
Transcript: ENSMUST00000230740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230642
Predicted Effect probably benign
Transcript: ENSMUST00000230744
Meta Mutation Damage Score 0.0759 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (55/56)
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, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 CGG CG 5: 124,215,368 (GRCm39) probably null Het
Aif1l T A 2: 31,859,763 (GRCm39) F94L probably damaging Het
Ankzf1 C T 1: 75,171,895 (GRCm39) H209Y probably damaging Het
Ate1 A T 7: 130,117,895 (GRCm39) M30K probably damaging Het
Cd27 A G 6: 125,210,281 (GRCm39) Y189H probably damaging Het
Copg2 A T 6: 30,803,168 (GRCm39) L259* probably null Het
Dennd2b A T 7: 109,155,653 (GRCm39) S366T probably benign Het
Efcab7 T A 4: 99,719,823 (GRCm39) probably benign Het
Fcrl5 A G 3: 87,353,726 (GRCm39) E357G probably damaging Het
Fzr1 C T 10: 81,203,474 (GRCm39) probably null Het
Il12rb2 C T 6: 67,275,179 (GRCm39) A649T probably damaging Het
Itfg1 C A 8: 86,464,758 (GRCm39) V438F probably damaging Het
Jaml A C 9: 45,012,361 (GRCm39) I283L possibly damaging Het
Kif28 A T 1: 179,537,024 (GRCm39) H486Q probably damaging Het
Lrch4 A G 5: 137,636,810 (GRCm39) probably benign Het
Lrfn2 A G 17: 49,378,188 (GRCm39) E423G possibly damaging Het
Lrp4 T A 2: 91,332,299 (GRCm39) N1665K probably benign Het
Mrpl32 A T 13: 14,785,165 (GRCm39) V157E probably damaging Het
Mta3 A G 17: 84,070,417 (GRCm39) I193V probably damaging Het
Myom2 G A 8: 15,162,018 (GRCm39) V984I possibly damaging Het
Nedd4l G A 18: 65,342,790 (GRCm39) V909I possibly damaging Het
Nlrp4a A G 7: 26,163,623 (GRCm39) D930G probably benign Het
Or10al5 T A 17: 38,063,271 (GRCm39) C175* probably null Het
Or5d47 A T 2: 87,804,066 (GRCm39) N314K probably benign Het
Or7a35 T C 10: 78,854,022 (GRCm39) F289L probably damaging Het
Ovch2 A T 7: 107,394,122 (GRCm39) H110Q probably damaging Het
Pcnx3 G A 19: 5,733,367 (GRCm39) Q155* probably null Het
Pcnx3 C G 19: 5,733,368 (GRCm39) L1F probably null Het
Pi4k2a G A 19: 42,079,131 (GRCm39) R64Q probably damaging Het
Ptpn12 G A 5: 21,203,690 (GRCm39) P363S probably damaging Het
Rbm27 T C 18: 42,425,177 (GRCm39) probably benign Het
Ripor3 A G 2: 167,825,785 (GRCm39) probably benign Het
Rpl13-ps3 A G 14: 59,131,265 (GRCm39) noncoding transcript Het
Sap18b G A 8: 96,552,191 (GRCm39) R67H probably benign Het
Sdhb T C 4: 140,700,311 (GRCm39) V137A probably damaging Het
Shmt2 T C 10: 127,353,897 (GRCm39) T459A probably benign Het
Siglecg A G 7: 43,058,846 (GRCm39) S200G possibly damaging Het
Slc6a15 T G 10: 103,252,646 (GRCm39) I603S probably benign Het
Smtn A T 11: 3,482,865 (GRCm39) probably null Het
Spata31d1a G A 13: 59,851,702 (GRCm39) S142L probably benign Het
Spopfm2 G A 3: 94,082,854 (GRCm39) A319V possibly damaging Het
Spopfm2 C A 3: 94,082,855 (GRCm39) A319S possibly damaging Het
Spopl C T 2: 23,427,392 (GRCm39) R221Q probably damaging Het
Strip1 A G 3: 107,523,135 (GRCm39) V633A probably benign Het
Sun2 A G 15: 79,612,114 (GRCm39) S522P possibly damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Terb2 T A 2: 122,028,913 (GRCm39) C157S probably benign Het
Themis T A 10: 28,739,376 (GRCm39) N615K possibly damaging Het
Tlnrd1 A T 7: 83,531,488 (GRCm39) D314E probably benign Het
Vmn1r205 T A 13: 22,776,566 (GRCm39) T179S probably benign Het
Vsig10l G A 7: 43,118,185 (GRCm39) R689H probably benign Het
Wt1 G A 2: 104,993,773 (GRCm39) probably benign Het
Zfp423 G T 8: 88,507,179 (GRCm39) A1034D possibly damaging Het
Zfy2 T C Y: 2,107,272 (GRCm39) E454G possibly damaging Het
Zyg11a G T 4: 108,053,343 (GRCm39) Q440K possibly damaging Het
Other mutations in Cela1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1845:Cela1 UTSW 15 100,583,048 (GRCm39) missense probably benign 0.43
R2060:Cela1 UTSW 15 100,573,203 (GRCm39) critical splice donor site probably null
R3968:Cela1 UTSW 15 100,582,534 (GRCm39) missense probably damaging 1.00
R4236:Cela1 UTSW 15 100,580,794 (GRCm39) missense probably damaging 1.00
R5491:Cela1 UTSW 15 100,580,861 (GRCm39) missense probably damaging 1.00
R6140:Cela1 UTSW 15 100,579,037 (GRCm39) missense probably benign 0.01
R6378:Cela1 UTSW 15 100,585,071 (GRCm39) missense probably benign 0.00
R7057:Cela1 UTSW 15 100,580,774 (GRCm39) missense possibly damaging 0.90
R7536:Cela1 UTSW 15 100,573,245 (GRCm39) missense probably damaging 1.00
R8152:Cela1 UTSW 15 100,580,822 (GRCm39) missense probably benign
R8500:Cela1 UTSW 15 100,573,213 (GRCm39) missense probably benign 0.00
R8732:Cela1 UTSW 15 100,580,766 (GRCm39) critical splice donor site probably null
R8843:Cela1 UTSW 15 100,580,821 (GRCm39) missense probably benign 0.01
R9131:Cela1 UTSW 15 100,579,038 (GRCm39) missense probably benign 0.09
R9164:Cela1 UTSW 15 100,580,766 (GRCm39) critical splice donor site probably null
R9277:Cela1 UTSW 15 100,580,894 (GRCm39) missense possibly damaging 0.95
R9581:Cela1 UTSW 15 100,573,261 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAGGAAGCTGAGTCTGTCCAC -3'
(R):5'- ACAAGCAATTGCAGGCCTG -3'

Sequencing Primer
(F):5'- TCTGTCCACCGGCACAAGAG -3'
(R):5'- TGGCTACCACCCACAGAGG -3'
Posted On 2014-10-30