Incidental Mutation 'IGL01941:Eln'
ID 181180
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 # IGL01941
Quality Score
Status
Chromosome 5
Chromosomal Location 134731447-134776177 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 134747024 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,094,802 (GRCm39) L123Q probably benign Het
Abca2 C T 2: 25,333,107 (GRCm39) S1602F probably benign Het
Abcc9 C A 6: 142,551,630 (GRCm39) C1191F probably damaging Het
Adam3 G T 8: 25,171,462 (GRCm39) probably benign Het
Aldh1l1 G T 6: 90,539,677 (GRCm39) G202V probably damaging Het
Ankrd46 T C 15: 36,486,083 (GRCm39) N57D possibly damaging Het
Asic1 A T 15: 99,596,982 (GRCm39) H548L possibly damaging Het
Atpaf2 A G 11: 60,294,724 (GRCm39) I233T probably benign Het
Ccdc185 G T 1: 182,575,769 (GRCm39) Q307K probably benign Het
Cep120 T C 18: 53,856,220 (GRCm39) D399G probably benign Het
Cnn2 G A 10: 79,828,388 (GRCm39) V122M probably benign Het
Dgkd T C 1: 87,852,281 (GRCm39) S472P probably damaging Het
Dock5 A C 14: 68,049,681 (GRCm39) I701S probably damaging Het
Efl1 A G 7: 82,347,184 (GRCm39) E570G probably benign Het
Fat2 A G 11: 55,202,831 (GRCm39) V81A probably benign Het
Fbxw21 T G 9: 108,977,224 (GRCm39) I162L probably benign Het
Fhl2 G A 1: 43,170,832 (GRCm39) Q161* probably null Het
Gabrg2 A G 11: 41,862,548 (GRCm39) Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Grik5 A T 7: 24,764,607 (GRCm39) I152N probably damaging Het
H2-Ab1 A T 17: 34,486,408 (GRCm39) K156* probably null Het
Hecw1 T C 13: 14,490,895 (GRCm39) Y699C probably benign Het
Ipo9 A C 1: 135,335,811 (GRCm39) V202G possibly damaging Het
Itprid1 A G 6: 55,945,030 (GRCm39) R584G probably benign Het
Jmjd6 A T 11: 116,732,184 (GRCm39) probably null Het
Lama5 A G 2: 179,834,185 (GRCm39) I1416T possibly damaging Het
Matn1 T C 4: 130,679,572 (GRCm39) probably benign Het
Mavs T C 2: 131,088,525 (GRCm39) V443A probably damaging Het
Mpdz A T 4: 81,204,624 (GRCm39) S1798R possibly damaging Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Or4a78 A T 2: 89,497,812 (GRCm39) C139* probably null Het
Otud7b G T 3: 96,062,776 (GRCm39) G672C probably benign Het
Palld T A 8: 61,988,734 (GRCm39) T572S probably benign Het
Pde6b T A 5: 108,570,902 (GRCm39) V379E probably benign Het
Peak1 A G 9: 56,166,059 (GRCm39) V623A probably damaging Het
Prr12 C T 7: 44,698,083 (GRCm39) probably benign Het
Rxra T C 2: 27,644,253 (GRCm39) I315T probably damaging Het
Slc11a1 C T 1: 74,416,338 (GRCm39) A55V probably damaging Het
Slitrk3 T C 3: 72,958,404 (GRCm39) N123D possibly damaging Het
Smr2l A G 5: 88,430,301 (GRCm39) S66G probably benign Het
Spcs1 A G 14: 30,722,829 (GRCm39) M82T probably damaging Het
Sspo A G 6: 48,472,116 (GRCm39) E113G probably benign Het
Syne2 A G 12: 76,013,994 (GRCm39) K3062E probably benign Het
Traf3ip2 T C 10: 39,510,656 (GRCm39) S310P probably benign Het
Ubp1 T C 9: 113,785,826 (GRCm39) L167S probably damaging Het
Vmn1r196 T A 13: 22,477,869 (GRCm39) C169* probably null Het
Vmn1r223 T A 13: 23,434,407 (GRCm39) F334I possibly damaging Het
Vmn2r10 A T 5: 109,143,820 (GRCm39) I710N probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wdr26 A G 1: 181,038,635 (GRCm39) probably benign Het
Wnt7a A G 6: 91,371,645 (GRCm39) F106L probably benign Het
Zfp940 C T 7: 29,546,295 (GRCm39) V34M probably damaging Het
Other mutations in Eln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Eln APN 5 134,747,894 (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
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 2014-05-07