Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:Eln'

607178

Institutional Source

Beutler Lab

Gene Symbol

Eln

Ensembl Gene

ENSMUSG00000029675

Gene Name

elastin

Synonyms

E030024M20Rik, tropoelastin

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_007925.3; MGI:95317

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7855 (G1)

Quality Score

135.461

Status

Not validated

Chromosome

Chromosomal Location

134702593-134747323 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC to AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC at 134711081 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144555 (fasta)

Gene Model

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

AlphaFold

P54320

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	T	A	19: 7,422,256	I456N	probably damaging	Het
Abca6	A	T	11: 110,191,628	V1173D	probably benign	Het
Ace	A	T	11: 105,972,379	M327L	probably benign	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicdl2	C	T	17: 23,666,017	Q231*	probably null	Het
Brms1l	A	T	12: 55,866,053	D277V	possibly damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Col6a3	G	T	1: 90,810,621	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,848,597	M262K	probably benign	Het
Cpxm2	G	T	7: 132,057,695	P481Q	possibly damaging	Het
Dnah12	G	T	14: 26,829,329	V2543F	probably benign	Het
Dock2	A	C	11: 34,273,698	D1145E	probably damaging	Het
Elf3	G	A	1: 135,254,352	R364W	probably damaging	Het
Epha3	A	G	16: 63,773,560	I55T	probably damaging	Het
Fam69c	G	A	18: 84,730,046		probably benign	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Gm10436	A	T	12: 88,176,083	I450N	probably benign	Het
Gm11568	A	T	11: 99,858,184	T72S	unknown	Het
Gm21994	C	T	2: 150,255,146	R121Q	probably benign	Het
Gm5415	A	C	1: 32,546,033	I265M	probably damaging	Het
Igkv3-1	C	T	6: 70,704,069	A84V	probably benign	Het
Il1rl2	A	C	1: 40,343,119	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,680,336	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,166,772	R667H	probably benign	Het
Kcnh7	G	A	2: 62,837,194	Q334*	probably null	Het
Lctl	A	C	9: 64,133,216	R480S	possibly damaging	Het
Lrba	T	G	3: 86,315,430	I617S	possibly damaging	Het
Marf1	G	T	16: 14,114,201	H1651N	probably benign	Het
Mitf	T	A	6: 97,993,196	Y142N	probably damaging	Het
Olfr569	A	G	7: 102,887,628	V175A	probably benign	Het
Olfr620	T	A	7: 103,611,772	I194F	possibly damaging	Het
Pecam1	A	G	11: 106,671,750	V708A	probably benign	Het
Pinlyp	C	T	7: 24,542,440		probably null	Het
Polh	G	A	17: 46,175,248	R382W	probably damaging	Het
Prdm10	A	G	9: 31,327,474	I221V	probably benign	Het
Pskh1	G	T	8: 105,913,090	R134L	probably benign	Het
Ptpre	A	G	7: 135,651,995	N6D	probably benign	Het
Rasgrp4	C	T	7: 29,150,610	P58L	unknown	Het
Rhbdf2	G	T	11: 116,602,240	C393*	probably null	Het
Rlf	T	C	4: 121,182,691	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,706,623	R2641*	probably null	Het
Simc1	A	G	13: 54,524,832	H331R	probably benign	Het
Skp2	A	G	15: 9,122,241	S256P	probably benign	Het
Smarcd2	T	C	11: 106,267,566	R10G	probably benign	Het
Spef2	A	G	15: 9,687,895	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,873,874	H1541R	probably damaging	Het
Top1	T	A	2: 160,714,088	L489Q	probably damaging	Het
Ttll13	C	T	7: 80,254,097	H258Y	probably damaging	Het
Unc80	A	G	1: 66,483,349	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,146,624	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,597,868	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,570,979	H58Y	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp467	T	C	6: 48,439,181	Q179R	probably damaging	Het
Zfp729a	A	T	13: 67,619,948	S721T	possibly 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
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
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'- AAACCTTACATTCTGGAGTTGTTGG -3'
(R):5'- TTGGAGGTCTGACTCAGCTC -3'

Sequencing Primer
(F):5'- CTGCTTGGTACTGGAAATAGAACCC -3'
(R):5'- AGGGGCAACATTCCACATATATAG -3'

Posted On

2019-12-20