Incidental Mutation 'IGL02654:Eln'
ID 302288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eln
Ensembl Gene ENSMUSG00000029675
Gene Name elastin
Synonyms E030024M20Rik, tropoelastin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02654
Quality Score
Status
Chromosome 5
Chromosomal Location 134731447-134776177 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 134745908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015138] [ENSMUST00000201856]
AlphaFold P54320
Predicted Effect probably benign
Transcript: ENSMUST00000015138
SMART Domains Protein: ENSMUSP00000015138
Gene: ENSMUSG00000029675

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,977,826 (GRCm39) I468T possibly damaging Het
Actmap A G 7: 26,903,298 (GRCm39) E289G probably damaging Het
Anxa13 A G 15: 58,205,397 (GRCm39) noncoding transcript Het
Arhgef33 A G 17: 80,677,740 (GRCm39) Y429C probably damaging Het
Bdh1 T C 16: 31,275,433 (GRCm39) probably benign Het
Dennd4a A G 9: 64,817,473 (GRCm39) probably benign Het
Dld G T 12: 31,383,916 (GRCm39) H396N probably benign Het
Dsg1b T C 18: 20,542,319 (GRCm39) V942A probably damaging Het
Fat3 G A 9: 15,908,271 (GRCm39) T2577M possibly damaging Het
Gad1 A T 2: 70,403,125 (GRCm39) K73M possibly damaging Het
Gipc1 T C 8: 84,389,780 (GRCm39) V253A probably damaging Het
Gtpbp10 A C 5: 5,593,372 (GRCm39) probably benign Het
Hgf A T 5: 16,766,049 (GRCm39) T62S probably benign Het
Hivep1 T C 13: 42,311,161 (GRCm39) S1134P probably damaging Het
Hnrnpc A G 14: 52,321,574 (GRCm39) L80S probably damaging Het
Kif20a G A 18: 34,765,076 (GRCm39) R770H probably damaging Het
Lcat T C 8: 106,666,401 (GRCm39) T374A possibly damaging Het
Mlana A G 19: 29,682,018 (GRCm39) probably null Het
Nhsl3 C T 4: 129,116,112 (GRCm39) G851R probably damaging Het
Nynrin A G 14: 56,100,716 (GRCm39) I169V possibly damaging Het
Or2ag15 A T 7: 106,340,555 (GRCm39) Y195* probably null Het
P3h3 A G 6: 124,822,228 (GRCm39) V585A possibly damaging Het
Pcdhb17 T A 18: 37,619,614 (GRCm39) M468K probably benign Het
Prl8a2 T G 13: 27,536,780 (GRCm39) I134S possibly damaging Het
Rev3l T C 10: 39,738,730 (GRCm39) V2828A probably damaging Het
Rhbdd1 G T 1: 82,320,504 (GRCm39) V163F probably benign Het
Rrp1 A G 10: 78,248,773 (GRCm39) V5A probably benign Het
Sephs1 A T 2: 4,889,366 (GRCm39) N48I probably benign Het
Speer4a3 T A 5: 26,158,205 (GRCm39) H49L probably benign Het
Vmn1r71 A G 7: 10,482,242 (GRCm39) Y149H probably benign Het
Wiz T C 17: 32,578,324 (GRCm39) D396G probably damaging Het
Xirp2 A G 2: 67,345,015 (GRCm39) S2419G possibly damaging Het
Zfp128 A G 7: 12,618,606 (GRCm39) T35A possibly damaging Het
Zmym2 T A 14: 57,148,772 (GRCm39) F362Y probably damaging 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
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
R2033:Eln UTSW 5 134,738,960 (GRCm39) critical splice donor 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
Posted On 2015-04-16