Incidental Mutation 'R2033:Eln'
ID 221472
Institutional Source Beutler Lab
Gene Symbol Eln
Ensembl Gene ENSMUSG00000029675
Gene Name elastin
Synonyms E030024M20Rik, tropoelastin
MMRRC Submission 040040-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2033 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 134731447-134776177 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 134738960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000015138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015138] [ENSMUST00000201856]
AlphaFold P54320
Predicted Effect probably null
Transcript: ENSMUST00000015138
SMART Domains Protein: ENSMUSP00000015138
Gene: ENSMUSG00000029675

signal peptide 1 27 N/A INTRINSIC
low complexity region 183 220 N/A INTRINSIC
low complexity region 224 264 N/A INTRINSIC
low complexity region 292 301 N/A INTRINSIC
low complexity region 312 446 N/A INTRINSIC
low complexity region 451 798 N/A INTRINSIC
low complexity region 818 849 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201856
SMART Domains Protein: ENSMUSP00000144555
Gene: ENSMUSG00000029675

signal peptide 1 27 N/A INTRINSIC
low complexity region 183 220 N/A INTRINSIC
SCOP:d1iq0a2 227 280 8e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202570
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (53/55)
MGI Phenotype FUNCTION: This gene encodes elastin, the extracellular matrix protein that forms a major structural component of several tissues including lungs and arterial walls. Cleavage of the signal peptide from the encoded precursor generates soluble tropoelastin which undergoes lysine-derived crosslinking to form elastin polymers. Mice lacking the encoded protein exhibit defective lung development, and die of an obstructive arterial disease resulting from subendothelial cell proliferation and reorganization of smooth muscle. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for null allele die in the early postnatal period of an obstructive arterial disease. They exhibit a decrease in arterial diameter due to subendothelial accumulation of arterial smooth muscle, and display defective terminal airway development resulting in emphysematous morphology. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,182,953 (GRCm39) T172A probably benign Het
Atp6v1c1 T C 15: 38,674,210 (GRCm39) probably null Het
Bpifc G A 10: 85,836,496 (GRCm39) T3I possibly damaging Het
Car12 A G 9: 66,624,840 (GRCm39) probably null Het
Ccrl2 A G 9: 110,884,938 (GRCm39) F187L possibly damaging Het
Cep250 G A 2: 155,812,812 (GRCm39) R544H probably damaging Het
Col4a3 T G 1: 82,695,732 (GRCm39) probably benign Het
Cyb5r2 T C 7: 107,356,114 (GRCm39) probably null Het
Elfn2 A G 15: 78,556,096 (GRCm39) V817A probably damaging Het
Eml5 T C 12: 98,757,645 (GRCm39) E1896G possibly damaging Het
G530012D18Rik CACAGA CA 1: 85,504,875 (GRCm39) probably null Het
Galnt11 C T 5: 25,452,536 (GRCm39) T16I probably damaging Het
Gars1 C T 6: 55,054,708 (GRCm39) H672Y probably benign Het
Gpr155 T A 2: 73,178,526 (GRCm39) H726L probably benign Het
Inpp1 T A 1: 52,829,332 (GRCm39) N229I possibly damaging Het
Isg20 A C 7: 78,566,281 (GRCm39) I77L probably damaging Het
Kit G C 5: 75,797,977 (GRCm39) D422H possibly damaging Het
Lonp2 A G 8: 87,435,570 (GRCm39) E602G possibly damaging Het
Mink1 T C 11: 70,503,334 (GRCm39) V1143A probably damaging Het
Myh6 A C 14: 55,201,102 (GRCm39) L120R probably benign Het
Myo18a T A 11: 77,733,925 (GRCm39) probably null Het
Nphs2 T C 1: 156,151,308 (GRCm39) V249A probably damaging Het
Npsr1 A G 9: 24,224,648 (GRCm39) K342E probably benign Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Nudt18 G T 14: 70,817,056 (GRCm39) G162V possibly damaging Het
Odam A G 5: 88,040,278 (GRCm39) D248G probably benign Het
Or1e30 T C 11: 73,678,264 (GRCm39) S167P probably benign Het
Or4c119 A G 2: 88,987,498 (GRCm39) V7A probably damaging Het
Or51d1 A G 7: 102,348,369 (GRCm39) E308G probably benign Het
Or51h5 T C 7: 102,577,615 (GRCm39) V260A probably benign Het
Or8b3 G T 9: 38,314,669 (GRCm39) M166I probably damaging Het
Pde4b G T 4: 102,462,492 (GRCm39) D723Y probably benign Het
Pdzrn3 T C 6: 101,127,915 (GRCm39) E917G probably damaging Het
Ppip5k1 C T 2: 121,168,108 (GRCm39) R715H probably damaging Het
Prkdc T A 16: 15,505,216 (GRCm39) probably benign Het
Ptp4a3 A G 15: 73,625,618 (GRCm39) Y21C probably damaging Het
Ptprk C A 10: 28,468,763 (GRCm39) probably benign Het
Rfesd C A 13: 76,150,991 (GRCm39) probably null Het
Rtel1 A T 2: 180,993,656 (GRCm39) K592* probably null Het
Siah1a T A 8: 87,451,898 (GRCm39) K195N probably damaging Het
Slc5a5 G T 8: 71,341,231 (GRCm39) D369E probably damaging Het
Slc6a6 A T 6: 91,701,891 (GRCm39) I100F probably benign Het
Smtn T C 11: 3,467,781 (GRCm39) I913V probably benign Het
Stk17b A G 1: 53,800,235 (GRCm39) S248P probably damaging Het
Sun1 C T 5: 139,211,193 (GRCm39) H149Y probably damaging Het
Taar5 T C 10: 23,846,992 (GRCm39) I130T possibly damaging Het
Tmem132b G T 5: 125,826,353 (GRCm39) V448F probably damaging Het
Tmem94 C A 11: 115,685,154 (GRCm39) N888K possibly damaging Het
Trpc1 T C 9: 95,588,896 (GRCm39) N742S probably damaging Het
Ttbk2 T C 2: 120,637,330 (GRCm39) T112A probably damaging Het
Tubb2a A T 13: 34,259,439 (GRCm39) L117Q probably damaging Het
Vmn1r60 T A 7: 5,547,819 (GRCm39) M94L probably benign Het
Vmn2r83 A G 10: 79,327,653 (GRCm39) T754A probably benign Het
Other mutations in Eln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Eln APN 5 134,747,894 (GRCm39) intron probably benign
IGL01941:Eln APN 5 134,747,024 (GRCm39) intron probably benign
IGL02508:Eln APN 5 134,733,422 (GRCm39) utr 3 prime probably benign
IGL02654:Eln APN 5 134,745,908 (GRCm39) intron probably benign
PIT4696001:Eln UTSW 5 134,766,032 (GRCm39) missense unknown
R0036:Eln UTSW 5 134,739,914 (GRCm39) critical splice donor site probably null
R0594:Eln UTSW 5 134,741,252 (GRCm39) splice site probably benign
R0849:Eln UTSW 5 134,736,835 (GRCm39) nonsense probably null
R1434:Eln UTSW 5 134,758,291 (GRCm39) splice site probably benign
R1481:Eln UTSW 5 134,735,426 (GRCm39) missense probably damaging 0.99
R1682:Eln UTSW 5 134,732,636 (GRCm39) makesense probably null
R1741:Eln UTSW 5 134,758,038 (GRCm39) missense unknown
R1926:Eln UTSW 5 134,735,421 (GRCm39) nonsense probably null
R1983:Eln UTSW 5 134,765,194 (GRCm39) splice site probably null
R2259:Eln UTSW 5 134,758,508 (GRCm39) missense unknown
R2260:Eln UTSW 5 134,758,508 (GRCm39) missense unknown
R4450:Eln UTSW 5 134,754,635 (GRCm39) intron probably benign
R6502:Eln UTSW 5 134,754,628 (GRCm39) intron probably benign
R7249:Eln UTSW 5 134,739,935 (GRCm39) utr 3 prime probably benign
R7479:Eln UTSW 5 134,736,429 (GRCm39) missense unknown
R7819:Eln UTSW 5 134,766,035 (GRCm39) missense unknown
R7855:Eln UTSW 5 134,739,935 (GRCm39) utr 3 prime probably benign
R7873:Eln UTSW 5 134,740,041 (GRCm39) missense unknown
R7923:Eln UTSW 5 134,739,935 (GRCm39) utr 3 prime probably benign
R8047:Eln UTSW 5 134,758,003 (GRCm39) small deletion probably benign
R8048:Eln UTSW 5 134,758,003 (GRCm39) small deletion probably benign
R8073:Eln UTSW 5 134,758,003 (GRCm39) small deletion probably benign
R8141:Eln UTSW 5 134,758,003 (GRCm39) small deletion probably benign
R8144:Eln UTSW 5 134,758,003 (GRCm39) small deletion probably benign
R8344:Eln UTSW 5 134,757,246 (GRCm39) missense unknown
R8413:Eln UTSW 5 134,755,375 (GRCm39) missense unknown
R8554:Eln UTSW 5 134,738,964 (GRCm39) utr 3 prime probably benign
R9213:Eln UTSW 5 134,735,456 (GRCm39) missense unknown
R9300:Eln UTSW 5 134,758,220 (GRCm39) missense unknown
R9370:Eln UTSW 5 134,741,476 (GRCm39) missense unknown
R9420:Eln UTSW 5 134,739,935 (GRCm39) utr 3 prime probably benign
R9608:Eln UTSW 5 134,755,331 (GRCm39) missense unknown
R9624:Eln UTSW 5 134,738,991 (GRCm39) missense unknown
R9701:Eln UTSW 5 134,744,559 (GRCm39) missense unknown
R9794:Eln UTSW 5 134,751,352 (GRCm39) nonsense probably null
R9802:Eln UTSW 5 134,744,559 (GRCm39) missense unknown
Z1177:Eln UTSW 5 134,746,880 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-08-25