Mutagenetix > Incidental Mutations

Incidental Mutation 'R1682:Eln'

189231

Institutional Source

Beutler Lab

Gene Symbol

Eln

Ensembl Gene

ENSMUSG00000029675

Gene Name

elastin

Synonyms

E030024M20Rik, tropoelastin

MMRRC Submission

039718-MU

Accession Numbers

Ncbi RefSeq: NM_007925.3; MGI:95317

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1682 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

134702593-134747323 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

C to A at 134703782 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Leucine at position 861 (*861L)

Ref Sequence

ENSEMBL: ENSMUSP00000015138 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000015138
AA Change: *861L

SMART Domains

Protein: ENSMUSP00000015138
Gene: ENSMUSG00000029675
AA Change: *861L

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,392,217	D2203G	probably benign	Het
Acin1	A	G	14: 54,663,718	S629P	probably damaging	Het
Agbl2	T	A	2: 90,784,090	I22N	probably benign	Het
Ank1	A	G	8: 23,109,327	E796G	probably damaging	Het
Ankrd13d	A	G	19: 4,282,933	L13P	probably damaging	Het
Ankrd36	T	C	11: 5,607,143	S364P	possibly damaging	Het
Ap2a1	T	C	7: 44,915,938	T126A	probably benign	Het
Apob	A	G	12: 8,012,365	I3616V	probably benign	Het
Arl5a	A	T	2: 52,416,202	N39K	probably benign	Het
Baiap2	G	A	11: 119,997,540	R334H	probably damaging	Het
Bbox1	T	A	2: 110,292,548	N132I	possibly damaging	Het
Bcl11b	A	G	12: 107,916,649	L469P	probably damaging	Het
Brca1	A	G	11: 101,525,565	I581T	probably damaging	Het
Cacng2	T	C	15: 78,118,797	Y32C	probably damaging	Het
Capn9	G	T	8: 124,611,565		probably null	Het
Cdh18	A	G	15: 23,400,585	T290A	probably benign	Het
Cdk5rap2	C	T	4: 70,302,150	V593I	possibly damaging	Het
Cep128	G	C	12: 91,230,822	D91E	probably damaging	Het
Cep295	T	C	9: 15,333,921	M1080V	probably benign	Het
Coq8b	T	A	7: 27,240,124	M193K	probably benign	Het
Csn1s2b	A	G	5: 87,822,303	Y131C	probably damaging	Het
D130043K22Rik	T	C	13: 24,882,556	S779P	probably damaging	Het
Dgat1	C	T	15: 76,503,019	C356Y	probably benign	Het
Dnah12	A	T	14: 26,778,883	T1543S	possibly damaging	Het
Dock3	T	C	9: 106,973,841	S821G	probably damaging	Het
Dock4	G	A	12: 40,725,780	C574Y	probably damaging	Het
Dr1	T	C	5: 108,269,738	I50T	probably damaging	Het
Dzip3	A	T	16: 48,958,417		probably null	Het
Eml6	T	A	11: 29,759,065	H24L	probably benign	Het
Eps8l3	A	C	3: 107,891,306	T503P	possibly damaging	Het
Fam69c	A	T	18: 84,736,863	I155F	possibly damaging	Het
Fgf1	C	A	18: 38,841,932	D155Y	possibly damaging	Het
Fkbp15	A	T	4: 62,324,194	M507K	probably damaging	Het
Flnb	A	T	14: 7,913,121	R1463S	probably benign	Het
Fras1	C	T	5: 96,645,873	T1018I	probably benign	Het
Gm10803	T	A	2: 93,564,188	C102S	probably damaging	Het
Gpatch1	C	A	7: 35,303,387	V233L	possibly damaging	Het
Gramd1a	T	C	7: 31,142,900		probably null	Het
Gsk3a	T	C	7: 25,235,708	T106A	possibly damaging	Het
Hap1	A	G	11: 100,349,476	V136A	possibly damaging	Het
Helq	A	T	5: 100,792,813	S307T	probably benign	Het
Herc2	T	A	7: 56,088,400	S264T	possibly damaging	Het
Htr4	A	G	18: 62,428,066	M133V	possibly damaging	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Jakmip2	A	G	18: 43,581,831		probably null	Het
Ldhd	T	A	8: 111,628,113	S358C	possibly damaging	Het
Lrp1	A	T	10: 127,574,332	V1515E	probably damaging	Het
Ltbp3	A	G	19: 5,751,754	D700G	probably benign	Het
Magel2	T	G	7: 62,380,235	S962R	unknown	Het
Map2	A	C	1: 66,415,622		probably null	Het
Map3k1	T	A	13: 111,757,150	E704V	probably damaging	Het
Mrpl39	A	T	16: 84,730,459	V180D	probably damaging	Het
Myef2	T	C	2: 125,098,058	M383V	probably damaging	Het
Myh3	A	G	11: 67,089,065	Y610C	probably damaging	Het
Olfr1328	A	G	4: 118,934,581	L89P	probably damaging	Het
Olfr555	T	C	7: 102,659,697	V292A	probably damaging	Het
Olfr969	T	A	9: 39,795,658	Y94*	probably null	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pabpc1	T	A	15: 36,605,541	N135I	possibly damaging	Het
Pcsk6	T	A	7: 65,910,228	H100Q	probably damaging	Het
Pdss1	A	G	2: 22,915,519	K270E	probably damaging	Het
Pigx	A	T	16: 32,087,450	S18T	possibly damaging	Het
Plbd2	T	A	5: 120,485,784	T558S	probably damaging	Het
Plppr1	A	T	4: 49,325,617		probably null	Het
Plppr2	T	A	9: 21,944,421	V230E	possibly damaging	Het
Pola2	A	G	19: 5,953,063		probably null	Het
Ppp2r3a	A	G	9: 101,212,306	S273P	probably benign	Het
Prkdc	A	G	16: 15,676,989	E741G	probably benign	Het
Prom2	C	A	2: 127,540,162	V111L	possibly damaging	Het
Rapgef4	A	G	2: 72,226,568	D557G	possibly damaging	Het
Rgs10	T	C	7: 128,373,970	T158A	probably benign	Het
Rnf123	A	C	9: 108,077,398	Y40D	probably benign	Het
Rnf14	A	G	18: 38,308,189	T211A	probably benign	Het
Rp1l1	T	A	14: 64,028,968	S668T	probably damaging	Het
Sema6d	T	A	2: 124,665,149	L946Q	probably benign	Het
Sgcd	T	G	11: 47,195,042	K94Q	probably benign	Het
Skor2	A	T	18: 76,859,516	D311V	unknown	Het
Slc17a2	A	T	13: 23,812,640	I43F	probably damaging	Het
Spdye4c	C	A	2: 128,592,622	P40T	probably damaging	Het
Srp72	C	A	5: 76,987,870	Q216K	possibly damaging	Het
Tmem62	C	T	2: 121,007,057	T485I	probably benign	Het
Tmem94	G	T	11: 115,790,230	V432L	probably damaging	Het
Trio	T	C	15: 27,744,146		probably null	Het
Uggt2	A	T	14: 119,054,643	D581E	probably benign	Het
Unc5d	T	A	8: 28,759,081	S319C	probably damaging	Het
Vmn1r211	T	C	13: 22,851,643	I285V	probably damaging	Het
Vmn2r68	A	G	7: 85,233,366	Y393H	possibly damaging	Het
Vmn2r99	A	C	17: 19,377,945	N77T	probably damaging	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
R1741:Eln	UTSW	5	134729184	missense	unknown
R1926:Eln	UTSW	5	134706567	nonsense	probably null
R1983:Eln	UTSW	5	134736340	splice site	probably null
R2033:Eln	UTSW	5	134710106	critical splice donor 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
R7956:Eln	UTSW	5	134711187	missense	unknown
R7982:Eln	UTSW	5	134711081	utr 3 prime	probably benign
R8047:Eln	UTSW	5	134729149
R8048:Eln	UTSW	5	134729149
R8073:Eln	UTSW	5	134729149
Z1177:Eln	UTSW	5	134718026

Predicted Primers

PCR Primer
(F):5'- AGCACCAATTTCCCTTGGAGATGG -3'
(R):5'- TCTTCTCAGAATTCAGCAGGCTGTG -3'

Sequencing Primer
(F):5'- AATTTCCCTTGGAGATGGAGACTG -3'
(R):5'- ggaaggaagggagggagg -3'

Posted On

2014-05-14