Mutagenetix > Incidental Mutation

Incidental Mutation 'R1926:Eln'

213430

Institutional Source

Beutler Lab

Gene Symbol

Eln

Ensembl Gene

ENSMUSG00000029675

Gene Name

elastin

Synonyms

E030024M20Rik, tropoelastin

MMRRC Submission

039944-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134731447-134776177 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 134735421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 787 (Y787*)

Ref Sequence

ENSEMBL: ENSMUSP00000015138 (fasta)

Gene Model

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

AlphaFold

P54320

Predicted Effect

probably null
Transcript: ENSMUST00000015138
AA Change: Y787*

SMART Domains

Protein: ENSMUSP00000015138
Gene: ENSMUSG00000029675
AA Change: Y787*

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: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	C	T	7: 119,376,359 (GRCm39)	T362M	probably damaging	Het
Ang6	A	G	14: 44,239,695 (GRCm39)	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,392,028 (GRCm39)	Y1880H	probably damaging	Het
Bmi1	A	G	2: 18,687,084 (GRCm39)	I55V	probably benign	Het
Bnipl	G	A	3: 95,150,354 (GRCm39)	T297M	probably damaging	Het
Bpifa2	T	C	2: 153,855,669 (GRCm39)	V198A	probably benign	Het
Brms1l	G	T	12: 55,909,946 (GRCm39)	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Ces1c	A	G	8: 93,854,232 (GRCm39)	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,479,837 (GRCm39)	Y15H	probably benign	Het
Dglucy	A	T	12: 100,833,414 (GRCm39)	N535I	possibly damaging	Het
Dop1a	C	A	9: 86,405,072 (GRCm39)	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,385,120 (GRCm39)	M236I	probably benign	Het
Efna2	T	C	10: 80,022,710 (GRCm39)	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,914,836 (GRCm39)		probably null	Het
Erbb2	G	C	11: 98,315,990 (GRCm39)	E364D	probably benign	Het
F5	A	G	1: 164,007,077 (GRCm39)	T294A	probably damaging	Het
Fam47e	A	G	5: 92,733,244 (GRCm39)	T194A	possibly damaging	Het
Galk1	T	C	11: 115,901,073 (GRCm39)	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,682,362 (GRCm39)	D163G	probably damaging	Het
Gmip	A	G	8: 70,268,170 (GRCm39)	E408G	probably benign	Het
Gp1ba	A	T	11: 70,531,715 (GRCm39)		probably benign	Het
Grm3	A	T	5: 9,554,881 (GRCm39)	C804S	probably damaging	Het
Gzmd	A	G	14: 56,367,737 (GRCm39)	C179R	probably damaging	Het
Hadhb	T	A	5: 30,385,935 (GRCm39)	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,823,498 (GRCm39)	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,045,516 (GRCm39)	T13A	probably benign	Het
Kat8	T	A	7: 127,514,467 (GRCm39)	Y67*	probably null	Het
Kcnab1	G	A	3: 65,283,933 (GRCm39)	E384K	possibly damaging	Het
Lhx3	A	T	2: 26,092,200 (GRCm39)	Y230*	probably null	Het
Lmx1b	T	A	2: 33,454,674 (GRCm39)	M365L	probably damaging	Het
Ly6k	G	T	15: 74,669,051 (GRCm39)	P76Q	probably benign	Het
Lypd10	G	A	7: 24,413,541 (GRCm39)	G186R	probably damaging	Het
Map1b	A	T	13: 99,567,200 (GRCm39)	H1840Q	unknown	Het
Map3k2	A	G	18: 32,336,163 (GRCm39)	I117V	probably damaging	Het
Med13	C	A	11: 86,179,899 (GRCm39)	A1350S	possibly damaging	Het
Midn	T	C	10: 79,987,495 (GRCm39)	S109P	probably damaging	Het
Msh6	A	G	17: 88,293,653 (GRCm39)	T803A	probably benign	Het
Nckap1	T	C	2: 80,337,182 (GRCm39)	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,314,816 (GRCm39)	N63K	probably benign	Het
Neb	A	T	2: 52,169,647 (GRCm39)	S1811R	probably damaging	Het
Notch1	T	C	2: 26,371,669 (GRCm39)	D260G	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Oas1g	T	C	5: 121,017,205 (GRCm39)	K283R	probably benign	Het
Obscn	T	C	11: 58,954,300 (GRCm39)	T4037A		Het
Or6b1	T	G	6: 42,815,247 (GRCm39)	L144R	probably damaging	Het
Or6b3	A	G	1: 92,439,330 (GRCm39)	L140P	probably damaging	Het
Otop2	A	T	11: 115,217,781 (GRCm39)	T206S	probably benign	Het
Pamr1	A	G	2: 102,471,342 (GRCm39)		probably null	Het
Pkp1	G	A	1: 135,805,411 (GRCm39)	T675I	probably benign	Het
Plxna2	G	A	1: 194,444,758 (GRCm39)	V717I	probably benign	Het
Ptgs2	T	C	1: 149,975,979 (GRCm39)	L2P	possibly damaging	Het
Rarg	A	G	15: 102,147,980 (GRCm39)	F277S	probably damaging	Het
Rassf5	A	T	1: 131,140,076 (GRCm39)	I161N	probably damaging	Het
Resf1	C	T	6: 149,230,902 (GRCm39)	T1316I	probably benign	Het
Rxfp4	A	G	3: 88,559,659 (GRCm39)	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,582,597 (GRCm39)	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,334,218 (GRCm39)	I275V	probably benign	Het
Slc2a12	T	C	10: 22,541,141 (GRCm39)	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,285,113 (GRCm39)	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,393,568 (GRCm39)	V77E	probably damaging	Het
Sp8	G	A	12: 118,812,964 (GRCm39)	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,580,921 (GRCm39)	N475K	probably benign	Het
St18	A	G	1: 6,872,913 (GRCm39)	H216R	probably benign	Het
Tcirg1	C	T	19: 3,952,843 (GRCm39)		probably benign	Het
Tmeff1	A	G	4: 48,658,788 (GRCm39)	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,683,726 (GRCm39)	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,765,363 (GRCm39)	R955L	probably damaging	Het
Trip12	A	G	1: 84,727,012 (GRCm39)	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,468,800 (GRCm39)	L263S	probably damaging	Het
Tubb6	G	A	18: 67,534,391 (GRCm39)		probably null	Het
Ube3a	T	C	7: 58,926,127 (GRCm39)	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,629,519 (GRCm39)	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,508,466 (GRCm39)	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,258,075 (GRCm39)	N741K	probably benign	Het
Yeats2	A	G	16: 20,033,176 (GRCm39)	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,286,253 (GRCm39)	Y424*	probably null	Het
Zfp729a	A	G	13: 67,767,676 (GRCm39)	V851A	probably benign	Het
Zkscan1	G	T	5: 138,099,625 (GRCm39)	A450S	probably benign	Het
Zkscan3	A	G	13: 21,580,616 (GRCm39)	V24A	possibly damaging	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
R1983:Eln	UTSW	5	134,765,194 (GRCm39)	splice site	probably null
R2033:Eln	UTSW	5	134,738,960 (GRCm39)	critical splice donor 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'- TTAGCCATACCTCCACCTGG -3'
(R):5'- GAGTTCATTCCTAGCACCAGAG -3'

Sequencing Primer
(F):5'- AATGGCCTGGCTCCTAGGAC -3'
(R):5'- TTCATTCCTAGCACCAGAGAGAGAG -3'

Posted On

2014-07-14