Incidental Mutation 'R1741:Eln'
ID 200341
Institutional Source Beutler Lab
Gene Symbol Eln
Ensembl Gene ENSMUSG00000029675
Gene Name elastin
Synonyms E030024M20Rik, tropoelastin
MMRRC Submission 039773-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1741 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 134731447-134776177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134758038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 185 (V185A)
Ref Sequence ENSEMBL: ENSMUSP00000144555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015138] [ENSMUST00000201856]
AlphaFold P54320
Predicted Effect unknown
Transcript: ENSMUST00000015138
AA Change: V185A
SMART Domains Protein: ENSMUSP00000015138
Gene: ENSMUSG00000029675
AA Change: V185A

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 unknown
Transcript: ENSMUST00000201856
AA Change: V185A
SMART Domains Protein: ENSMUSP00000144555
Gene: ENSMUSG00000029675
AA Change: V185A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202620
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik A G 18: 52,793,578 (GRCm39) N37S probably damaging Het
Acad10 T C 5: 121,785,899 (GRCm39) K230R probably damaging Het
Actl7a A G 4: 56,744,252 (GRCm39) N260D probably benign Het
Adam24 T C 8: 41,132,642 (GRCm39) Y37H probably benign Het
Ahcy G A 2: 154,906,154 (GRCm39) A229V probably benign Het
Ap3b2 A G 7: 81,117,347 (GRCm39) V563A possibly damaging Het
Bcl9l T A 9: 44,420,986 (GRCm39) M1427K probably damaging Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Btg4 A T 9: 51,027,910 (GRCm39) I27L probably benign Het
Ccdc171 A G 4: 83,539,076 (GRCm39) Y366C probably damaging Het
Chd3 A G 11: 69,246,480 (GRCm39) Y1085H probably damaging Het
Cnot10 T C 9: 114,426,892 (GRCm39) D616G possibly damaging Het
Crlf1 C A 8: 70,953,556 (GRCm39) D243E probably damaging Het
Cyp2b23 A G 7: 26,372,502 (GRCm39) V371A possibly damaging Het
Dennd2a A G 6: 39,470,091 (GRCm39) S534P probably damaging Het
Epor C T 9: 21,871,067 (GRCm39) G301D probably damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fbxl21 A T 13: 56,684,915 (GRCm39) T340S probably benign Het
Fcgbpl1 G T 7: 27,857,279 (GRCm39) C2209F probably damaging Het
Fez1 T A 9: 36,755,029 (GRCm39) D9E probably damaging Het
Fsip2 T C 2: 82,820,256 (GRCm39) F5330L probably benign Het
Glis1 G A 4: 107,425,544 (GRCm39) R197Q probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gpr158 A G 2: 21,832,359 (GRCm39) N1153S probably benign Het
Gramd4 T C 15: 85,975,730 (GRCm39) probably null Het
Hhatl T A 9: 121,618,125 (GRCm39) Y210F possibly damaging Het
Hltf T C 3: 20,140,352 (GRCm39) W422R probably damaging Het
Hspa5 T C 2: 34,662,704 (GRCm39) S87P possibly damaging Het
Il21 T C 3: 37,281,811 (GRCm39) H111R probably benign Het
Ip6k1 G A 9: 107,918,183 (GRCm39) G73S probably benign Het
Kdm5b A G 1: 134,545,755 (GRCm39) D972G possibly damaging Het
Kif21b C T 1: 136,083,880 (GRCm39) A709V probably damaging Het
Kmt2d T C 15: 98,743,115 (GRCm39) probably benign Het
Lrrc14b A G 13: 74,511,705 (GRCm39) L125P probably damaging Het
Mapk8ip3 A G 17: 25,118,828 (GRCm39) S1169P probably damaging Het
Me3 A T 7: 89,501,041 (GRCm39) Y584F probably damaging Het
Mxra7 T G 11: 116,707,070 (GRCm39) probably null Het
Nf1 T C 11: 79,334,757 (GRCm39) S870P probably benign Het
Npr2 G A 4: 43,643,350 (GRCm39) G525S probably damaging Het
Nyap1 A T 5: 137,731,387 (GRCm39) S726T probably damaging Het
Padi4 A G 4: 140,473,481 (GRCm39) V652A probably damaging Het
Pclo A G 5: 14,726,524 (GRCm39) probably benign Het
Pgm1 G A 4: 99,822,062 (GRCm39) probably null Het
Piezo2 A G 18: 63,154,244 (GRCm39) S2512P probably damaging Het
Ptbp3 A T 4: 59,482,624 (GRCm39) D386E probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptpn3 A G 4: 57,254,922 (GRCm39) V154A probably damaging Het
Rassf4 T C 6: 116,616,450 (GRCm39) E287G probably damaging Het
Rnh1 C T 7: 140,743,936 (GRCm39) R174H probably benign Het
Scn9a T A 2: 66,317,938 (GRCm39) I1517F probably damaging Het
Sftpb C A 6: 72,282,797 (GRCm39) A90E probably benign Het
Slc39a14 T C 14: 70,556,193 (GRCm39) K61R probably damaging Het
Tmem132d A C 5: 127,861,922 (GRCm39) M733R probably benign Het
Tmem248 A G 5: 130,265,664 (GRCm39) I156V probably benign Het
Traf2 T C 2: 25,414,495 (GRCm39) D339G probably damaging Het
Trappc11 A G 8: 47,982,362 (GRCm39) probably null Het
Tuba8 T A 6: 121,199,727 (GRCm39) I137N possibly damaging Het
Txlnb A G 10: 17,714,695 (GRCm39) T376A probably damaging Het
Usp34 A G 11: 23,314,103 (GRCm39) T663A probably benign Het
Vmn2r26 T A 6: 124,038,431 (GRCm39) F669I probably damaging Het
Wdr95 G A 5: 149,518,861 (GRCm39) probably null Het
Wfdc8 T G 2: 164,450,789 (GRCm39) probably benign Het
Zfp64 A C 2: 168,768,238 (GRCm39) V458G probably benign Het
Zfp868 C T 8: 70,064,519 (GRCm39) G272D 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTCAAGTCACTCAGCCCTATTGC -3'
(R):5'- TCTGGCTTTCCAAGACCTCCAGAC -3'

Sequencing Primer
(F):5'- CCTATTGCCCAATCACAGGTC -3'
(R):5'- tgttggagttggcggag -3'
Posted On 2014-05-23