Mutagenetix > Incidental Mutations

Incidental Mutation 'R2033:Eln'

221472

Institutional Source

Beutler Lab

Gene Symbol

Eln

Ensembl Gene

ENSMUSG00000029675

Gene Name

elastin

Synonyms

E030024M20Rik, tropoelastin

MMRRC Submission

040040-MU

Accession Numbers

Ncbi RefSeq: NM_007925.3; MGI:95317

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134702593-134747323 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 134710106 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000015138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015138] [ENSMUST00000201856]

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

Strain: 2153007
Lethality: 3- 4
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: 144,456,383	T172A	probably benign	Het
Atp6v1c1	T	C	15: 38,673,966		probably null	Het
Bpifc	G	A	10: 86,000,632	T3I	possibly damaging	Het
Car12	A	G	9: 66,717,558		probably null	Het
Ccrl2	A	G	9: 111,055,870	F187L	possibly damaging	Het
Cep250	G	A	2: 155,970,892	R544H	probably damaging	Het
Col4a3	T	G	1: 82,718,011		probably benign	Het
Cyb5r2	T	C	7: 107,756,907		probably null	Het
Elfn2	A	G	15: 78,671,896	V817A	probably damaging	Het
Eml5	T	C	12: 98,791,386	E1896G	possibly damaging	Het
G530012D18Rik	CACAGA	CA	1: 85,577,154		probably null	Het
Galnt11	C	T	5: 25,247,538	T16I	probably damaging	Het
Gars	C	T	6: 55,077,723	H672Y	probably benign	Het
Gpr155	T	A	2: 73,348,182	H726L	probably benign	Het
Inpp1	T	A	1: 52,790,173	N229I	possibly damaging	Het
Isg20	A	C	7: 78,916,533	I77L	probably damaging	Het
Kit	G	C	5: 75,637,317	D422H	possibly damaging	Het
Lonp2	A	G	8: 86,708,942	E602G	possibly damaging	Het
Mink1	T	C	11: 70,612,508	V1143A	probably damaging	Het
Myh6	A	C	14: 54,963,645	L120R	probably benign	Het
Myo18a	T	A	11: 77,843,099		probably null	Het
Nphs2	T	C	1: 156,323,738	V249A	probably damaging	Het
Npsr1	A	G	9: 24,313,352	K342E	probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nudt18	G	T	14: 70,579,616	G162V	possibly damaging	Het
Odam	A	G	5: 87,892,419	D248G	probably benign	Het
Olfr1224-ps1	A	G	2: 89,157,154	V7A	probably damaging	Het
Olfr147	G	T	9: 38,403,373	M166I	probably damaging	Het
Olfr390	T	C	11: 73,787,438	S167P	probably benign	Het
Olfr557	A	G	7: 102,699,162	E308G	probably benign	Het
Olfr572	T	C	7: 102,928,408	V260A	probably benign	Het
Pde4b	G	T	4: 102,605,295	D723Y	probably benign	Het
Pdzrn3	T	C	6: 101,150,954	E917G	probably damaging	Het
Ppip5k1	C	T	2: 121,337,627	R715H	probably damaging	Het
Prkdc	T	A	16: 15,687,352		probably benign	Het
Ptp4a3	A	G	15: 73,753,769	Y21C	probably damaging	Het
Ptprk	C	A	10: 28,592,767		probably benign	Het
Rfesd	C	A	13: 76,002,872		probably null	Het
Rtel1	A	T	2: 181,351,863	K592*	probably null	Het
Siah1a	T	A	8: 86,725,270	K195N	probably damaging	Het
Slc5a5	G	T	8: 70,888,587	D369E	probably damaging	Het
Slc6a6	A	T	6: 91,724,910	I100F	probably benign	Het
Smtn	T	C	11: 3,517,781	I913V	probably benign	Het
Stk17b	A	G	1: 53,761,076	S248P	probably damaging	Het
Sun1	C	T	5: 139,225,438	H149Y	probably damaging	Het
Taar5	T	C	10: 23,971,094	I130T	possibly damaging	Het
Tmem132b	G	T	5: 125,749,289	V448F	probably damaging	Het
Tmem94	C	A	11: 115,794,328	N888K	possibly damaging	Het
Trpc1	T	C	9: 95,706,843	N742S	probably damaging	Het
Ttbk2	T	C	2: 120,806,849	T112A	probably damaging	Het
Tubb2a	A	T	13: 34,075,456	L117Q	probably damaging	Het
Vmn1r60	T	A	7: 5,544,820	M94L	probably benign	Het
Vmn2r83	A	G	10: 79,491,819	T754A	probably benign	Het

Other mutations in Eln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Eln	APN	5	134719040	intron	probably benign
IGL01941:Eln	APN	5	134718170	intron	probably benign
IGL02508:Eln	APN	5	134704568	utr 3 prime	probably benign
IGL02654:Eln	APN	5	134717054	intron	probably benign
PIT4696001:Eln	UTSW	5	134737178	missense	unknown
R0036:Eln	UTSW	5	134711060	critical splice donor site	probably null
R0594:Eln	UTSW	5	134712398	splice site	probably benign
R0849:Eln	UTSW	5	134707981	nonsense	probably null
R1434:Eln	UTSW	5	134729437	splice site	probably benign
R1481:Eln	UTSW	5	134706572	missense	probably damaging	0.99
R1682:Eln	UTSW	5	134703782	makesense	probably null
R1741:Eln	UTSW	5	134729184	missense	unknown
R1926:Eln	UTSW	5	134706567	nonsense	probably null
R1983:Eln	UTSW	5	134736340	splice site	probably null
R2259:Eln	UTSW	5	134729654	missense	unknown
R2260:Eln	UTSW	5	134729654	missense	unknown
R4450:Eln	UTSW	5	134725781	intron	probably benign
R6502:Eln	UTSW	5	134725774	intron	probably benign
R7249:Eln	UTSW	5	134711081	utr 3 prime	probably benign
R7479:Eln	UTSW	5	134707575	missense	unknown
R7819:Eln	UTSW	5	134737181	missense	unknown
R7855:Eln	UTSW	5	134711081	utr 3 prime	probably benign
R7873:Eln	UTSW	5	134711187	missense	unknown
R7923:Eln	UTSW	5	134711081	utr 3 prime	probably benign
R8047:Eln	UTSW	5	134729149	small deletion	probably benign
R8048:Eln	UTSW	5	134729149	small deletion	probably benign
R8073:Eln	UTSW	5	134729149	small deletion	probably benign
R8141:Eln	UTSW	5	134729149	small deletion	probably benign
R8144:Eln	UTSW	5	134729149	small deletion	probably benign
R8344:Eln	UTSW	5	134728392	missense	unknown
R8413:Eln	UTSW	5	134726521	missense	unknown
R8554:Eln	UTSW	5	134710110	utr 3 prime	probably benign
Z1177:Eln	UTSW	5	134718026	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