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)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 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 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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
(F):5'- AAACTGTCAGGGTCGGAGTG -3'
(R):5'- GAGTGCTATAGAGTTTCAGGGC -3'
Sequencing Primer
(F):5'- TCTCCCTGTAGCCAAGGGTAAC -3'
(R):5'- GCTATAGAGTTTCAGGGCTTTAAAAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation