Mutagenetix > Incidental Mutation

Incidental Mutation 'R1741:Eln'

200341

Institutional Source

Beutler Lab

Gene Symbol

Eln

Ensembl Gene

ENSMUSG00000029675

Gene Name

elastin

Synonyms

E030024M20Rik, tropoelastin

MMRRC Submission

039773-MU

Accession Numbers

Ncbi RefSeq: NM_007925.3; MGI:95317

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134702593-134747323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134729184 bp (GRCm38)

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

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

unknown
Transcript: ENSMUST00000201856
AA Change: V185A

SMART Domains

Protein: ENSMUSP00000144555
Gene: ENSMUSG00000029675
AA Change: V185A

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

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

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,660,506	N37S	probably damaging	Het
9530053A07Rik	G	T	7: 28,157,854	C2209F	probably damaging	Het
Acad10	T	C	5: 121,647,836	K230R	probably damaging	Het
Actl7a	A	G	4: 56,744,252	N260D	probably benign	Het
Adam24	T	C	8: 40,679,603	Y37H	probably benign	Het
Ahcy	G	A	2: 155,064,234	A229V	probably benign	Het
Ap3b2	A	G	7: 81,467,599	V563A	possibly damaging	Het
Bcl9l	T	A	9: 44,509,689	M1427K	probably damaging	Het
Btf3	C	T	13: 98,316,296	M1I	probably null	Het
Btg4	A	T	9: 51,116,610	I27L	probably benign	Het
Ccdc171	A	G	4: 83,620,839	Y366C	probably damaging	Het
Chd3	A	G	11: 69,355,654	Y1085H	probably damaging	Het
Cnot10	T	C	9: 114,597,824	D616G	possibly damaging	Het
Crlf1	C	A	8: 70,500,906	D243E	probably damaging	Het
Cyp2b23	A	G	7: 26,673,077	V371A	possibly damaging	Het
Dennd2a	A	G	6: 39,493,157	S534P	probably damaging	Het
Epor	C	T	9: 21,959,771	G301D	probably damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fbxl21	A	T	13: 56,537,102	T340S	probably benign	Het
Fez1	T	A	9: 36,843,733	D9E	probably damaging	Het
Fsip2	T	C	2: 82,989,912	F5330L	probably benign	Het
Glis1	G	A	4: 107,568,347	R197Q	probably damaging	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gpr158	A	G	2: 21,827,548	N1153S	probably benign	Het
Gramd4	T	C	15: 86,091,529		probably null	Het
Hhatl	T	A	9: 121,789,059	Y210F	possibly damaging	Het
Hltf	T	C	3: 20,086,188	W422R	probably damaging	Het
Hspa5	T	C	2: 34,772,692	S87P	possibly damaging	Het
Il21	T	C	3: 37,227,662	H111R	probably benign	Het
Ip6k1	G	A	9: 108,040,984	G73S	probably benign	Het
Kdm5b	A	G	1: 134,618,017	D972G	possibly damaging	Het
Kif21b	C	T	1: 136,156,142	A709V	probably damaging	Het
Kmt2d	T	C	15: 98,845,234		probably benign	Het
Lrrc14b	A	G	13: 74,363,586	L125P	probably damaging	Het
Mapk8ip3	A	G	17: 24,899,854	S1169P	probably damaging	Het
Me3	A	T	7: 89,851,833	Y584F	probably damaging	Het
Mxra7	T	G	11: 116,816,244		probably null	Het
Nf1	T	C	11: 79,443,931	S870P	probably benign	Het
Npr2	G	A	4: 43,643,350	G525S	probably damaging	Het
Nyap1	A	T	5: 137,733,125	S726T	probably damaging	Het
Padi4	A	G	4: 140,746,170	V652A	probably damaging	Het
Pclo	A	G	5: 14,676,510		probably benign	Het
Pgm2	G	A	4: 99,964,865		probably null	Het
Piezo2	A	G	18: 63,021,173	S2512P	probably damaging	Het
Ptbp3	A	T	4: 59,482,624	D386E	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpn3	A	G	4: 57,254,922	V154A	probably damaging	Het
Rassf4	T	C	6: 116,639,489	E287G	probably damaging	Het
Rnh1	C	T	7: 141,164,023	R174H	probably benign	Het
Scn9a	T	A	2: 66,487,594	I1517F	probably damaging	Het
Sftpb	C	A	6: 72,305,813	A90E	probably benign	Het
Slc39a14	T	C	14: 70,318,744	K61R	probably damaging	Het
Tmem132d	A	C	5: 127,784,858	M733R	probably benign	Het
Tmem248	A	G	5: 130,236,823	I156V	probably benign	Het
Traf2	T	C	2: 25,524,483	D339G	probably damaging	Het
Trappc11	A	G	8: 47,529,327		probably null	Het
Tuba8	T	A	6: 121,222,768	I137N	possibly damaging	Het
Txlnb	A	G	10: 17,838,947	T376A	probably damaging	Het
Usp34	A	G	11: 23,364,103	T663A	probably benign	Het
Vmn2r26	T	A	6: 124,061,472	F669I	probably damaging	Het
Wdr95	G	A	5: 149,595,396		probably null	Het
Wfdc8	T	G	2: 164,608,869		probably benign	Het
Zfp64	A	C	2: 168,926,318	V458G	probably benign	Het
Zfp868	C	T	8: 69,611,868	G272D	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
R1682:Eln	UTSW	5	134703782	makesense	probably null
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
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
R9213:Eln	UTSW	5	134706602	missense	unknown
R9300:Eln	UTSW	5	134729366	missense	unknown
R9370:Eln	UTSW	5	134712622	missense	unknown
R9420:Eln	UTSW	5	134711081	utr 3 prime	probably benign
R9608:Eln	UTSW	5	134726477	missense	unknown
R9624:Eln	UTSW	5	134710137	missense	unknown
R9701:Eln	UTSW	5	134715705	missense	unknown
R9794:Eln	UTSW	5	134722498	nonsense	probably null
R9802:Eln	UTSW	5	134715705	missense	unknown
Z1177:Eln	UTSW	5	134718026	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