Incidental Mutation 'R8554:Eln'
ID 660017
Institutional Source Beutler Lab
Gene Symbol Eln
Ensembl Gene ENSMUSG00000029675
Gene Name elastin
Synonyms E030024M20Rik, tropoelastin
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 134731447-134776177 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to C at 134738964 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 unknown
Transcript: ENSMUST00000015138
AA Change: Y672D
SMART Domains Protein: ENSMUSP00000015138
Gene: ENSMUSG00000029675
AA Change: Y672D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M 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
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
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'- ACAGAAACTGTCAGGGTCGG -3'
(R):5'- CTGGCTAGAGTGCTATAGAGTTTC -3'

Sequencing Primer
(F):5'- TCTCCCTGTAGCCAAGGGTAAC -3'
(R):5'- CTAGAGTGCTATAGAGTTTCAGGGC -3'
Posted On 2021-01-18