Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Eln'

243620

Institutional Source

Beutler Lab

Gene Symbol

Eln

Ensembl Gene

ENSMUSG00000029675

Gene Name

elastin

Synonyms

E030024M20Rik, tropoelastin

MMRRC Submission

040259-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134731447-134776177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 134758508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 126 (A126S)

Ref Sequence

ENSEMBL: ENSMUSP00000144555 (fasta)

Gene Model

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

AlphaFold

P54320

Predicted Effect

unknown
Transcript: ENSMUST00000015138
AA Change: A126S

SMART Domains

Protein: ENSMUSP00000015138
Gene: ENSMUSG00000029675
AA Change: A126S

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: A126S

SMART Domains

Protein: ENSMUSP00000144555
Gene: ENSMUSG00000029675
AA Change: A126S

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,189,375 (GRCm39)	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,367,168 (GRCm39)	N247T	probably damaging	Het
Atp10b	A	G	11: 43,063,572 (GRCm39)	D169G	probably damaging	Het
Atp10b	G	A	11: 43,080,440 (GRCm39)	V239M	probably damaging	Het
Cflar	C	T	1: 58,768,280 (GRCm39)	T121I	probably benign	Het
Clca3b	T	C	3: 144,552,142 (GRCm39)	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,177,192 (GRCm39)	I62N	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,008,460 (GRCm39)	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,046,631 (GRCm39)	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,174,568 (GRCm39)	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,662,841 (GRCm39)		probably null	Het
Dlg4	T	C	11: 69,922,196 (GRCm39)	I143T	probably damaging	Het
E2f7	T	G	10: 110,582,204 (GRCm39)	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,063,172 (GRCm39)	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,286,264 (GRCm39)	I1017L	probably damaging	Het
Exoc7	T	C	11: 116,197,237 (GRCm39)	S35G	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fmn2	T	A	1: 174,330,498 (GRCm39)	L296H	unknown	Het
Galnt14	C	A	17: 73,801,261 (GRCm39)	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107 (GRCm39)	C396R	probably benign	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Glb1	C	T	9: 114,272,100 (GRCm39)	Q246*	probably null	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,950,444 (GRCm39)	Y172C	probably damaging	Het
Ift52	A	G	2: 162,870,013 (GRCm39)	N159S	probably benign	Het
Insrr	A	G	3: 87,707,759 (GRCm39)	D67G	probably damaging	Het
Insyn2a	T	A	7: 134,519,396 (GRCm39)	E378V	probably damaging	Het
Irf2	A	G	8: 47,290,868 (GRCm39)	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,732,140 (GRCm39)	H187R	probably damaging	Het
Kdm2b	C	T	5: 123,020,479 (GRCm39)	G90S	probably damaging	Het
Kif7	C	T	7: 79,361,337 (GRCm39)	G118D	probably damaging	Het
Klhl38	G	C	15: 58,178,374 (GRCm39)	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,792,440 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,907,123 (GRCm39)	L2346S	probably benign	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mllt6	T	C	11: 97,555,802 (GRCm39)	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo7a	T	G	7: 97,718,706 (GRCm39)	D1388A	probably damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Ncoa1	A	C	12: 4,365,819 (GRCm39)	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,986,877 (GRCm39)	L212F	probably damaging	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Npy2r	G	T	3: 82,448,661 (GRCm39)	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,671,537 (GRCm39)	D24E	probably damaging	Het
Or14c41	T	A	7: 86,235,092 (GRCm39)	V203D	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Phf3	A	G	1: 30,843,424 (GRCm39)	V1845A	probably benign	Het
Plch1	T	A	3: 63,605,398 (GRCm39)	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,190,908 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,882,459 (GRCm39)	V1541A	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Pura	T	C	18: 36,420,803 (GRCm39)	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 184,954,056 (GRCm39)	W43R	probably damaging	Het
Repin1	A	G	6: 48,573,464 (GRCm39)	Q128R	probably benign	Het
Rnf208	G	A	2: 25,133,656 (GRCm39)	V117I	probably damaging	Het
Rpe65	A	G	3: 159,321,208 (GRCm39)	Y340C	probably damaging	Het
Ryr1	C	A	7: 28,719,166 (GRCm39)	V4414L	unknown	Het
Sephs2	T	C	7: 126,872,649 (GRCm39)	E148G	possibly damaging	Het
Spns2	T	A	11: 72,348,094 (GRCm39)	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,946,915 (GRCm39)	P1090S	probably benign	Het
Tasp1	A	T	2: 139,793,426 (GRCm39)	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,568,364 (GRCm39)	I664T	possibly damaging	Het
Tg	T	C	15: 66,555,747 (GRCm39)	V813A	probably benign	Het
Tmem132c	T	C	5: 127,581,988 (GRCm39)	L401P	probably benign	Het
Tmem138	T	C	19: 10,548,967 (GRCm39)	N101S	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Tnni3	T	A	7: 4,522,405 (GRCm39)	I182F	probably benign	Het
Trim30a	T	A	7: 104,060,711 (GRCm39)	D355V	probably damaging	Het
Trim35	C	T	14: 66,546,711 (GRCm39)	R493*	probably null	Het
Trip10	G	C	17: 57,562,135 (GRCm39)	V254L	probably benign	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780 (GRCm39)	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Usp8	A	G	2: 126,600,488 (GRCm39)	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,590,119 (GRCm39)	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het
Zfp407	G	T	18: 84,227,918 (GRCm39)	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,791,459 (GRCm39)	R2188*	probably null	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
R1926:Eln	UTSW	5	134,735,421 (GRCm39)	nonsense	probably null
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
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'- GACTCCTAAGCCACCGATGC -3'
(R):5'- CATTCCTGGGTGAAGGGGTC -3'

Sequencing Primer
(F):5'- TGGGACTCCGCCAACTC -3'
(R):5'- TGAAGGGGTCCAGGCTG -3'

Posted On

2014-10-16