Incidental Mutation 'R0167:Elane'
ID 24235
Institutional Source Beutler Lab
Gene Symbol Elane
Ensembl Gene ENSMUSG00000020125
Gene Name elastase, neutrophil expressed
Synonyms NE, F430011M15Rik, Ela2
MMRRC Submission 038443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R0167 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 10
Chromosomal Location 79722146-79724050 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 79722933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006679] [ENSMUST00000046091] [ENSMUST00000061653] [ENSMUST00000217837]
AlphaFold Q3UP87
Predicted Effect probably benign
Transcript: ENSMUST00000006679
SMART Domains Protein: ENSMUSP00000006679
Gene: ENSMUSG00000057729

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Tryp_SPc 29 245 2.1e-77 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000046091
AA Change: L113Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038925
Gene: ENSMUSG00000020125
AA Change: L113Q

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Tryp_SPc 28 242 3.74e-74 SMART
Predicted Effect probably null
Transcript: ENSMUST00000061653
SMART Domains Protein: ENSMUSP00000056836
Gene: ENSMUSG00000061780

DomainStartEndE-ValueType
Tryp_SPc 25 249 8.25e-76 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171489
Predicted Effect probably null
Transcript: ENSMUST00000217837
Predicted Effect probably benign
Transcript: ENSMUST00000166201
SMART Domains Protein: ENSMUSP00000129585
Gene: ENSMUSG00000057729

DomainStartEndE-ValueType
Tryp_SPc 5 125 1.26e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218521
Meta Mutation Damage Score 0.9578 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (58/61)
MGI Phenotype FUNCTION: This gene encodes a member of the chymotrypsin-like family of serine protease enzymes that hydrolyzes a broad range of protein substrates including elastin. This gene is expressed by neutrophils where the encoded enzyme is stored in azurophil granules. Upon neutrophil activation, the active enzyme is released into the extracellular mileu. Mice lacking the encoded protein exhibit increased susceptibility to sepsis and death following intraperitoneal infection with Gram negative bacteria. This gene is located adjacent to a related proteinase gene on chromosome 10. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a null allele show impaired neutrophil physiology, susceptibility to Gram (-) bacterial infection, reduced sensitivity to xenobiotics, and abnormal local Shwartzman responses. Homozygotes for a knock-in allele show susceptibility to fungal infection and resistance to endotoxic shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,806,969 (GRCm39) F431L probably damaging Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Bltp3a C T 17: 28,099,176 (GRCm39) T246M possibly damaging Het
Bsn T C 9: 108,003,185 (GRCm39) T407A probably benign Het
Ccdc96 T C 5: 36,642,497 (GRCm39) F168L probably benign Het
Cckar A T 5: 53,863,795 (GRCm39) S55R probably damaging Het
Cdh5 A C 8: 104,863,367 (GRCm39) I426L possibly damaging Het
Clcn1 T C 6: 42,263,770 (GRCm39) Y24H probably damaging Het
Clpx G A 9: 65,224,019 (GRCm39) R271K possibly damaging Het
Col6a3 C T 1: 90,725,895 (GRCm39) G1978D probably damaging Het
Cpne2 T C 8: 95,295,207 (GRCm39) probably benign Het
D630023F18Rik A G 1: 65,156,340 (GRCm39) V51A possibly damaging Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dlk2 C A 17: 46,613,530 (GRCm39) R262S possibly damaging Het
Dubr G T 16: 50,553,007 (GRCm39) noncoding transcript Het
Eya2 T G 2: 165,558,032 (GRCm39) S209R possibly damaging Het
Fam171a1 C T 2: 3,187,469 (GRCm39) S112L probably damaging Het
Fsip2 T A 2: 82,811,151 (GRCm39) M2490K possibly damaging Het
Galnt14 T C 17: 73,829,715 (GRCm39) T277A probably damaging Het
Golga1 T C 2: 38,937,660 (GRCm39) N128S probably benign Het
H1f6 T C 13: 23,879,886 (GRCm39) V13A probably benign Het
Hdac2 T C 10: 36,876,368 (GRCm39) V461A probably benign Het
Hey2 A G 10: 30,716,661 (GRCm39) V34A probably benign Het
Ift22 T C 5: 136,940,745 (GRCm39) C137R probably benign Het
Lrp2 T C 2: 69,256,002 (GRCm39) D4657G possibly damaging Het
Lrrn3 T A 12: 41,504,014 (GRCm39) Q101L probably damaging Het
Med25 A G 7: 44,532,521 (GRCm39) probably null Het
Mup5 T A 4: 61,752,019 (GRCm39) probably null Het
Or51aa5 A T 7: 103,166,708 (GRCm39) Y294* probably null Het
Or5ac23 A T 16: 59,149,337 (GRCm39) C178* probably null Het
Or9q2 T C 19: 13,772,931 (GRCm39) T15A probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Parg T C 14: 31,939,693 (GRCm39) probably null Het
Prep A G 10: 45,034,326 (GRCm39) probably null Het
Prss1l T A 6: 41,373,195 (GRCm39) probably benign Het
Psip1 T C 4: 83,385,055 (GRCm39) probably null Het
Rbbp8 T A 18: 11,793,979 (GRCm39) Y30* probably null Het
Rhbdd1 T C 1: 82,320,505 (GRCm39) V163A probably benign Het
Setd2 T A 9: 110,402,850 (GRCm39) N1830K probably damaging Het
Shc4 T G 2: 125,564,933 (GRCm39) N122T probably benign Het
Shroom3 T C 5: 93,096,254 (GRCm39) probably benign Het
Snx14 A T 9: 88,289,469 (GRCm39) L261Q probably damaging Het
St8sia1 A G 6: 142,859,907 (GRCm39) probably benign Het
Thbs2 A T 17: 14,887,787 (GRCm39) probably benign Het
Tpp2 T C 1: 44,009,648 (GRCm39) V494A probably benign Het
Trdmt1 A T 2: 13,520,829 (GRCm39) F358I probably damaging Het
Ttn T A 2: 76,719,867 (GRCm39) probably benign Het
Uggt1 A G 1: 36,209,278 (GRCm39) probably null Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vstm2a T A 11: 16,208,044 (GRCm39) F13I probably damaging Het
Zfp804a T G 2: 82,086,860 (GRCm39) F230V probably damaging Het
Other mutations in Elane
AlleleSourceChrCoordTypePredicted EffectPPH Score
Ruo UTSW 10 79,722,942 (GRCm39) missense probably damaging 1.00
R0639:Elane UTSW 10 79,722,183 (GRCm39) missense possibly damaging 0.53
R0837:Elane UTSW 10 79,722,942 (GRCm39) missense probably damaging 1.00
R2001:Elane UTSW 10 79,723,593 (GRCm39) missense possibly damaging 0.90
R2425:Elane UTSW 10 79,723,610 (GRCm39) missense probably benign 0.12
R4751:Elane UTSW 10 79,722,625 (GRCm39) missense probably benign 0.00
R5359:Elane UTSW 10 79,722,870 (GRCm39) missense probably damaging 1.00
R6027:Elane UTSW 10 79,722,852 (GRCm39) missense probably damaging 1.00
R7565:Elane UTSW 10 79,722,879 (GRCm39) missense probably benign 0.45
R9462:Elane UTSW 10 79,723,883 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- TTAGCCCTCAATGTCCATGCGG -3'
(R):5'- TTTCCAAGAGTTCCCCAAGCTTCAG -3'

Sequencing Primer
(F):5'- TCAATGTCCATGCGGGTCAG -3'
(R):5'- agccttcaacattcagccc -3'
Posted On 2013-04-16