Incidental Mutation 'R7565:Elane'
ID 585388
Institutional Source Beutler Lab
Gene Symbol Elane
Ensembl Gene ENSMUSG00000020125
Gene Name elastase, neutrophil expressed
Synonyms NE, F430011M15Rik, Ela2
MMRRC Submission 045710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R7565 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 79722146-79724050 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79722879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 95 (R95Q)
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 benign
Transcript: ENSMUST00000046091
AA Change: R95Q

PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038925
Gene: ENSMUSG00000020125
AA Change: R95Q

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 probably benign
Transcript: ENSMUST00000166201
SMART Domains Protein: ENSMUSP00000129585
Gene: ENSMUSG00000057729

DomainStartEndE-ValueType
Tryp_SPc 5 125 1.26e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000217837
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,452,750 (GRCm39) Y63F possibly damaging Het
Abi1 A T 2: 22,836,596 (GRCm39) I421N probably benign Het
Ahnak A G 19: 8,993,520 (GRCm39) I4935V probably benign Het
Atg12 A C 18: 46,867,551 (GRCm39) V131G probably damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG 3: 95,795,456 (GRCm39) probably benign Het
BC028528 CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT 3: 95,795,450 (GRCm39) probably benign Het
Bcl3 C T 7: 19,546,419 (GRCm39) V139I probably damaging Het
Bloc1s4 T A 5: 36,905,689 (GRCm39) M101L probably benign Het
Bmp6 C T 13: 38,530,233 (GRCm39) Q109* probably null Het
Cabyr C T 18: 12,877,656 (GRCm39) T28I possibly damaging Het
Catsper3 T C 13: 55,932,538 (GRCm39) S22P probably benign Het
Catsperg2 A T 7: 29,412,406 (GRCm39) C395S probably null Het
Cd101 T C 3: 100,926,108 (GRCm39) T208A probably benign Het
Chaf1a A G 17: 56,371,148 (GRCm39) S678G probably benign Het
Chrna2 A C 14: 66,388,484 (GRCm39) I500L probably benign Het
Cln6 C T 9: 62,758,039 (GRCm39) T266I possibly damaging Het
Col17a1 T A 19: 47,659,963 (GRCm39) T330S possibly damaging Het
Cyp2d40 A G 15: 82,644,975 (GRCm39) V225A unknown Het
Dnah10 A G 5: 124,876,095 (GRCm39) N2645D probably damaging Het
Dph5 T A 3: 115,686,446 (GRCm39) V74D probably benign Het
Dthd1 A T 5: 63,000,435 (GRCm39) I586L probably damaging Het
Fbxw17 A G 13: 50,587,398 (GRCm39) T453A probably damaging Het
Fpr3 C A 17: 18,191,227 (GRCm39) T166K probably damaging Het
Fryl A G 5: 73,191,063 (GRCm39) I2724T probably benign Het
Fsip2 C T 2: 82,779,856 (GRCm39) R201C probably damaging Het
Gm14496 A G 2: 181,642,630 (GRCm39) N767S probably damaging Het
Gm14496 T A 2: 181,633,050 (GRCm39) F11Y possibly damaging Het
Hyal4 T A 6: 24,765,933 (GRCm39) M429K possibly damaging Het
Itgad A T 7: 127,782,187 (GRCm39) T208S probably damaging Het
Itpr3 T G 17: 27,329,862 (GRCm39) L1552R probably benign Het
Kcp C T 6: 29,499,186 (GRCm39) C292Y probably damaging Het
Kdr T C 5: 76,109,503 (GRCm39) K958R probably damaging Het
Klhl22 T A 16: 17,607,148 (GRCm39) W485R probably damaging Het
Ldhb T A 6: 142,438,245 (GRCm39) I271F possibly damaging Het
Lmo7 A G 14: 102,122,737 (GRCm39) R309G probably damaging Het
Marco C A 1: 120,402,395 (GRCm39) C517F probably damaging Het
Mpdz G A 4: 81,221,891 (GRCm39) T1423I probably benign Het
Ncoa2 T C 1: 13,218,600 (GRCm39) S1410G probably benign Het
Ncor1 T C 11: 62,292,091 (GRCm39) N283S probably damaging Het
Nlrp14 T A 7: 106,781,094 (GRCm39) L97* probably null Het
Olfm3 T G 3: 114,916,393 (GRCm39) S442A probably damaging Het
Or10p1 A G 10: 129,444,029 (GRCm39) V107A possibly damaging Het
Or14j10 T C 17: 37,935,392 (GRCm39) I45V probably damaging Het
Or2ag12 T C 7: 106,277,333 (GRCm39) Y120C probably damaging Het
Or5a1 T A 19: 12,097,375 (GRCm39) S234C probably benign Het
Or5an10 T C 19: 12,276,212 (GRCm39) T95A probably benign Het
Pank4 G A 4: 155,065,007 (GRCm39) V769I probably benign Het
Pdgfrb G A 18: 61,216,336 (GRCm39) D1065N probably damaging Het
Ppp1r12a G A 10: 108,104,501 (GRCm39) S911N probably benign Het
Prdx6b A G 2: 80,123,334 (GRCm39) T48A probably damaging Het
Pttg1ip A G 10: 77,432,870 (GRCm39) K166E probably damaging Het
Rabgap1l T C 1: 160,078,987 (GRCm39) D9G Het
Rpl13a C T 7: 44,776,466 (GRCm39) G69S probably benign Het
Rps6ka5 T A 12: 100,582,342 (GRCm39) I177F probably damaging Het
Rttn C A 18: 89,078,603 (GRCm39) A1343E probably damaging Het
Ryr2 C T 13: 11,575,539 (GRCm39) V4820I possibly damaging Het
Slc12a7 A G 13: 73,938,891 (GRCm39) I223V possibly damaging Het
Slc9a3 G A 13: 74,305,813 (GRCm39) V277M probably damaging Het
Spata13 A T 14: 60,989,298 (GRCm39) Y988F probably damaging Het
Spata31e2 A T 1: 26,724,351 (GRCm39) N276K probably benign Het
Spo11 A G 2: 172,833,864 (GRCm39) I329V possibly damaging Het
Tcp11l2 A T 10: 84,422,998 (GRCm39) D63V probably damaging Het
Tdrd3 G A 14: 87,744,029 (GRCm39) W659* probably null Het
Thnsl2 T C 6: 71,118,311 (GRCm39) D39G probably benign Het
Thumpd1 A T 7: 119,316,085 (GRCm39) L288* probably null Het
Tram1l1 T C 3: 124,115,556 (GRCm39) Y239H probably damaging Het
Usp38 T A 8: 81,708,601 (GRCm39) E992D probably damaging Het
Usp45 A G 4: 21,784,790 (GRCm39) T159A probably benign Het
Vmn1r218 C T 13: 23,320,830 (GRCm39) T59I probably benign Het
Vmn2r70 T C 7: 85,214,499 (GRCm39) I218V probably benign Het
Xpr1 T C 1: 155,183,488 (GRCm39) I461V probably benign Het
Ydjc T C 16: 16,964,869 (GRCm39) L8P probably damaging Het
Yme1l1 A T 2: 23,050,232 (GRCm39) N21I possibly damaging Het
Zfhx4 T C 3: 5,455,426 (GRCm39) L1140P 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
R6027:Elane UTSW 10 79,722,852 (GRCm39) missense probably damaging 1.00
R9462:Elane UTSW 10 79,723,883 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- CAGGAACTTCGTCATGTCAGC -3'
(R):5'- TTGACCCAGTGTGTACCTGTC -3'

Sequencing Primer
(F):5'- TCATGTCAGCAGCCCACTGTG -3'
(R):5'- CAGTGTGTACCTGTCCTGCAG -3'
Posted On 2019-10-17