Incidental Mutation 'R6027:Elane'
ID 480116
Institutional Source Beutler Lab
Gene Symbol Elane
Ensembl Gene ENSMUSG00000020125
Gene Name elastase, neutrophil expressed
Synonyms NE, F430011M15Rik, Ela2
MMRRC Submission 044199-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R6027 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79722146-79724050 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79722852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 86 (H86L)
Ref Sequence ENSEMBL: ENSMUSP00000038925 (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: H86L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038925
Gene: ENSMUSG00000020125
AA Change: H86L

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Tryp_SPc 28 242 3.74e-74 SMART
Predicted Effect probably benign
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 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: ENSMUST00000171489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218521
Predicted Effect probably benign
Transcript: ENSMUST00000217837
Meta Mutation Damage Score 0.9428 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (68/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,289,003 (GRCm39) V2299A probably benign Het
Acacb A G 5: 114,303,661 (GRCm39) D28G probably benign Het
Adamts6 G A 13: 104,616,043 (GRCm39) G1035D probably damaging Het
Adamts7 A C 9: 90,073,078 (GRCm39) Y755S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ank2 T C 3: 126,791,528 (GRCm39) T763A possibly damaging Het
Armc9 G C 1: 86,172,389 (GRCm39) L105F probably damaging Het
Asah2 T C 19: 32,022,351 (GRCm39) N228D probably benign Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Aspm T G 1: 139,390,794 (GRCm39) V693G probably damaging Het
Bptf T C 11: 106,965,771 (GRCm39) E1141G probably damaging Het
Col12a1 C T 9: 79,563,860 (GRCm39) probably null Het
Csmd2 G A 4: 128,453,739 (GRCm39) D3475N unknown Het
Dctn5 T C 7: 121,732,564 (GRCm39) probably benign Het
Dhrs4 A G 14: 55,723,580 (GRCm39) K18E probably benign Het
Eci2 A T 13: 35,169,930 (GRCm39) probably null Het
Efcab6 A G 15: 83,851,922 (GRCm39) F319L probably benign Het
Endod1 A T 9: 14,268,893 (GRCm39) Y197* probably null Het
Eno4 A G 19: 58,935,262 (GRCm39) D158G probably damaging Het
Fam217a T A 13: 35,094,977 (GRCm39) T170S possibly damaging Het
Fbxo7 A G 10: 85,883,950 (GRCm39) D517G probably damaging Het
Fkbp3 G T 12: 65,120,692 (GRCm39) A2E possibly damaging Het
Gan A G 8: 117,885,034 (GRCm39) Y54C probably damaging Het
Gdap1l1 T A 2: 163,293,531 (GRCm39) N194K possibly damaging Het
Gnptab A G 10: 88,269,087 (GRCm39) T597A probably damaging Het
Hmcn1 A G 1: 150,678,646 (GRCm39) S492P possibly damaging Het
Hmox1 C A 8: 75,823,499 (GRCm39) H56N probably damaging Het
Kank3 C T 17: 34,037,088 (GRCm39) P131S possibly damaging Het
Kif14 T C 1: 136,410,797 (GRCm39) probably null Het
Kif1a A T 1: 92,953,365 (GRCm39) M1274K probably benign Het
Kmt2a A T 9: 44,730,587 (GRCm39) probably benign Het
Lypla1 T C 1: 4,907,299 (GRCm39) probably null Het
Man2b1 C T 8: 85,823,381 (GRCm39) T905I probably damaging Het
Mmp15 C A 8: 96,098,804 (GRCm39) H544N probably benign Het
Myh7 A T 14: 55,208,259 (GRCm39) N1933K probably benign Het
Ndst4 G T 3: 125,507,025 (GRCm39) A730S probably benign Het
Nmur1 G A 1: 86,315,053 (GRCm39) Q238* probably null Het
Nwd2 C T 5: 63,965,563 (GRCm39) P1716S possibly damaging Het
Or13c7c A G 4: 43,835,842 (GRCm39) V216A probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8k38 T G 2: 86,488,148 (GRCm39) Y218S probably damaging Het
P2ry6 T G 7: 100,587,715 (GRCm39) M215L probably benign Het
Parp4 G A 14: 56,866,615 (GRCm39) E1060K probably benign Het
Pde10a A G 17: 9,183,509 (GRCm39) I822V possibly damaging Het
Pira13 T C 7: 3,827,638 (GRCm39) Y173C possibly damaging Het
Pkd1l1 C A 11: 8,866,272 (GRCm39) G528* probably null Het
Ptk2 T A 15: 73,101,762 (GRCm39) Q816L probably damaging Het
Ptprg T C 14: 12,220,613 (GRCm38) F442L possibly damaging Het
Qrfpr A G 3: 36,276,187 (GRCm39) Y68H probably benign Het
Ripk4 A G 16: 97,545,274 (GRCm39) W458R probably damaging Het
Ros1 G T 10: 52,040,064 (GRCm39) T309N possibly damaging Het
Rps27a T C 11: 29,497,808 (GRCm39) probably benign Het
Sarm1 T A 11: 78,374,384 (GRCm39) M577L probably benign Het
Scin T C 12: 40,127,515 (GRCm39) Y425C probably damaging Het
Serpina12 T A 12: 103,997,336 (GRCm39) Y395F probably benign Het
Sfxn2 T A 19: 46,571,291 (GRCm39) Y69* probably null Het
Skint6 T C 4: 112,953,761 (GRCm39) probably null Het
Slc7a1 A C 5: 148,270,774 (GRCm39) I564S possibly damaging Het
Smc6 T A 12: 11,356,179 (GRCm39) Y933N probably benign Het
Sp110 T C 1: 85,505,039 (GRCm39) S438G possibly damaging Het
St8sia4 T A 1: 95,581,399 (GRCm39) R114S probably damaging Het
Trim11 C T 11: 58,869,289 (GRCm39) A75V possibly damaging Het
Tufm T A 7: 126,086,920 (GRCm39) H68Q probably damaging Het
Ythdc2 T A 18: 44,993,503 (GRCm39) D194E probably benign Het
Other mutations in Elane
AlleleSourceChrCoordTypePredicted EffectPPH Score
Ruo UTSW 10 79,722,942 (GRCm39) missense probably damaging 1.00
R0167:Elane UTSW 10 79,722,933 (GRCm39) splice site probably null
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
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'- CAGGAACTTCGTCATGTCAGC -3'
(R):5'- TGACCCAGTGTGTACCTGTC -3'

Sequencing Primer
(F):5'- TCATGTCAGCAGCCCACTGTG -3'
(R):5'- CAGTGTGTACCTGTCCTGCAG -3'
Posted On 2017-06-26