Mutagenetix > Incidental Mutation

Incidental Mutation 'R7479:Eln'

579661

Institutional Source

Beutler Lab

Gene Symbol

Eln

Ensembl Gene

ENSMUSG00000029675

Gene Name

elastin

Synonyms

E030024M20Rik, tropoelastin

MMRRC Submission

045553-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7479 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134731447-134776177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 134736429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 753 (G753A)

Ref Sequence

ENSEMBL: ENSMUSP00000015138 (fasta)

Gene Model

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

AlphaFold

P54320

Predicted Effect

unknown
Transcript: ENSMUST00000015138
AA Change: G753A

SMART Domains

Protein: ENSMUSP00000015138
Gene: ENSMUSG00000029675
AA Change: G753A

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: 99.5%
20x: 98.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,142 (GRCm39)	M81L	probably benign	Het
Ano9	T	C	7: 140,682,348 (GRCm39)	T667A	probably damaging	Het
Anpep	T	A	7: 79,485,118 (GRCm39)	I623F	probably benign	Het
Apba2	T	C	7: 64,389,607 (GRCm39)	I501T	possibly damaging	Het
Ascc3	T	A	10: 50,525,895 (GRCm39)	Y536N	probably damaging	Het
B4galt1	T	C	4: 40,823,587 (GRCm39)	Y168C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2	A	G	17: 35,082,441 (GRCm39)	C647R	probably damaging	Het
Cnot4	G	A	6: 35,001,083 (GRCm39)	T604I	probably benign	Het
Col11a1	C	T	3: 113,896,218 (GRCm39)	T506I	unknown	Het
Cr2	A	C	1: 194,840,718 (GRCm39)		probably null	Het
Ctsm	A	T	13: 61,685,569 (GRCm39)	V281D	probably damaging	Het
Cyp2c69	T	C	19: 39,870,001 (GRCm39)	I74V	probably benign	Het
Dennd4c	T	A	4: 86,717,590 (GRCm39)	V529D	probably damaging	Het
Dlgap3	C	A	4: 127,088,418 (GRCm39)	H5N	possibly damaging	Het
Dusp10	C	A	1: 183,769,617 (GRCm39)	H194Q	probably damaging	Het
Emb	T	A	13: 117,385,962 (GRCm39)	N118K	possibly damaging	Het
Fam184a	C	T	10: 53,531,110 (GRCm39)	V755I	probably benign	Het
Fryl	A	G	5: 73,254,904 (GRCm39)	I846T	possibly damaging	Het
Gabbr2	T	A	4: 46,681,166 (GRCm39)	I722F	probably damaging	Het
Gabrb3	T	A	7: 57,474,171 (GRCm39)	D362E	possibly damaging	Het
Galnt2	G	A	8: 125,061,077 (GRCm39)	G357D	probably damaging	Het
Gbx2	A	T	1: 89,858,373 (GRCm39)	S35R	probably benign	Het
Glg1	A	G	8: 111,924,367 (GRCm39)	I207T	possibly damaging	Het
Gm10192	A	T	4: 97,071,272 (GRCm39)	N44K	unknown	Het
Gpd1	A	G	15: 99,617,984 (GRCm39)	D123G	probably benign	Het
Grm2	A	T	9: 106,531,050 (GRCm39)	D146E	possibly damaging	Het
Gsg1l2	A	G	11: 67,676,032 (GRCm39)	D132G	probably benign	Het
Hecw1	C	T	13: 14,515,425 (GRCm39)	G236R	probably damaging	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Hspg2	C	T	4: 137,266,714 (GRCm39)	A1934V	probably benign	Het
Il7r	C	T	15: 9,513,117 (GRCm39)	A131T	probably damaging	Het
Itga6	C	T	2: 71,668,680 (GRCm39)	R540*	probably null	Het
Kcnh2	A	G	5: 24,530,490 (GRCm39)		probably null	Het
Kcnq4	C	T	4: 120,573,022 (GRCm39)	A260T	probably damaging	Het
Lrp1b	T	C	2: 40,691,517 (GRCm39)	N3434S		Het
Lrrc41	C	T	4: 115,946,238 (GRCm39)	P318S	probably damaging	Het
Map4	G	A	9: 109,897,892 (GRCm39)	G873R	possibly damaging	Het
Med24	A	G	11: 98,595,787 (GRCm39)	I968T	possibly damaging	Het
Mfap5	T	C	6: 122,503,821 (GRCm39)		probably null	Het
Mtcl1	A	G	17: 66,686,485 (GRCm39)	V807A	probably benign	Het
Mug1	T	A	6: 121,855,467 (GRCm39)	S934T	possibly damaging	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nkx2-4	T	C	2: 146,926,088 (GRCm39)	E258G	probably benign	Het
Polr1a	T	A	6: 71,913,281 (GRCm39)	V545E	probably damaging	Het
Ppp1r9b	A	G	11: 94,882,858 (GRCm39)	D162G	possibly damaging	Het
Rhot2	A	G	17: 26,059,723 (GRCm39)	L367P	probably damaging	Het
Ripk2	A	G	4: 16,155,154 (GRCm39)	F122L	probably benign	Het
Scn11a	T	C	9: 119,588,941 (GRCm39)	T1322A	probably benign	Het
Scn8a	T	A	15: 100,853,358 (GRCm39)	L115Q	probably damaging	Het
Sel1l3	G	T	5: 53,274,462 (GRCm39)	P1006Q	probably damaging	Het
Septin11	A	T	5: 93,304,804 (GRCm39)	N207I	probably damaging	Het
Sez6l2	C	T	7: 126,562,831 (GRCm39)	T669I	probably damaging	Het
Sfxn4	T	A	19: 60,847,112 (GRCm39)	D57V	possibly damaging	Het
Smarca2	T	A	19: 26,617,887 (GRCm39)	V306D	probably benign	Het
Srgap3	C	T	6: 112,712,794 (GRCm39)		probably null	Het
Tas2r134	T	C	2: 51,517,541 (GRCm39)	F7L	not run	Het
Tbcd	T	C	11: 121,383,431 (GRCm39)		probably null	Het
Tcn2	G	A	11: 3,867,703 (GRCm39)	A413V	probably damaging	Het
Tdp1	T	C	12: 99,857,654 (GRCm39)	V71A	probably benign	Het
Tjp1	T	C	7: 64,950,928 (GRCm39)	T1649A	probably damaging	Het
Tnc	T	C	4: 63,935,865 (GRCm39)	E357G	possibly damaging	Het
Tnrc6b	A	G	15: 80,773,327 (GRCm39)	T1158A	probably benign	Het
Ttn	C	A	2: 76,568,952 (GRCm39)	E27314*	probably null	Het
Vps35	G	T	8: 85,997,434 (GRCm39)	T512K	probably benign	Het
Zfp40	A	T	17: 23,396,292 (GRCm39)	S98R	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp945	A	T	17: 23,070,340 (GRCm39)	C541S	possibly damaging	Het
Zfp976	T	A	7: 42,262,603 (GRCm39)	E412D	probably benign	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
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
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'- TTAGGTACCTCTGTGTCAGCAGG -3'
(R):5'- GGGAATCCCAGAGATGACTG -3'

Sequencing Primer
(F):5'- GCACTCACTAAGTAGCTCAGGTTAG -3'
(R):5'- TGACTGGGAGCTCAGAGACC -3'

Posted On

2019-10-07