Mutagenetix > Incidental Mutation

Incidental Mutation 'R8048:Eln'

618871

Institutional Source

Beutler Lab

Gene Symbol

Eln

Ensembl Gene

ENSMUSG00000029675

Gene Name

elastin

Synonyms

E030024M20Rik, tropoelastin

MMRRC Submission

067485-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8048 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

134731447-134776177 bp(-) (GRCm39)

Type of Mutation

small deletion (4 aa in frame mutation)

DNA Base Change (assembly)

CTCCAGCTCCGAT to C at 134758003 bp (GRCm39)

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,228,708 (GRCm39)	L318F	probably damaging	Het
Alms1	T	A	6: 85,618,316 (GRCm39)	S2318R	probably benign	Het
Arhgap12	G	A	18: 6,052,883 (GRCm39)	T443I	probably benign	Het
Arhgap29	C	T	3: 121,786,550 (GRCm39)	R372W	probably damaging	Het
Astn1	T	C	1: 158,516,208 (GRCm39)	I1266T	probably benign	Het
Bsg	T	C	10: 79,545,580 (GRCm39)	V164A	probably benign	Het
C1qa	G	T	4: 136,623,921 (GRCm39)	S94R	probably benign	Het
Cadps2	A	G	6: 23,838,862 (GRCm39)	V92A	probably benign	Het
Ccdc187	T	A	2: 26,183,526 (GRCm39)	D158V	possibly damaging	Het
Cngb1	T	A	8: 95,989,838 (GRCm39)	Y758F	possibly damaging	Het
Ddx4	G	A	13: 112,758,706 (GRCm39)	A285V	probably null	Het
Dsg1c	A	T	18: 20,407,824 (GRCm39)	K390M	probably damaging	Het
Dst	T	C	1: 34,229,717 (GRCm39)	F2437L	probably benign	Het
Fam227a	CATTGTCTTGA	CA	15: 79,533,959 (GRCm39)		probably null	Het
Fez2	T	C	17: 78,694,482 (GRCm39)	I303V	probably benign	Het
Ffar1	A	T	7: 30,560,003 (GRCm39)	I298N	probably benign	Het
Hpx	C	T	7: 105,244,685 (GRCm39)	V228I	probably benign	Het
Igkv1-117	T	G	6: 68,098,786 (GRCm39)	C112G	probably damaging	Het
Il3ra	A	G	14: 14,348,903 (GRCm38)	D99G	probably benign	Het
Ivl	T	A	3: 92,479,231 (GRCm39)	K278M	probably damaging	Het
Lyst	A	G	13: 13,862,230 (GRCm39)	T2589A	probably benign	Het
Madd	A	T	2: 90,984,793 (GRCm39)	M1359K	probably damaging	Het
Nav3	T	C	10: 109,600,779 (GRCm39)	T1283A	probably benign	Het
Ncapd2	G	T	6: 125,156,661 (GRCm39)	C439*	probably null	Het
Nebl	T	C	2: 17,429,333 (GRCm39)	D266G	probably benign	Het
Oas1f	G	T	5: 120,985,602 (GRCm39)	G49V	probably damaging	Het
Oas1f	A	T	5: 120,986,479 (GRCm39)	Q144L	possibly damaging	Het
Or11g7	T	C	14: 50,691,373 (GRCm39)	L288P	possibly damaging	Het
Or2ab1	A	G	11: 58,488,233 (GRCm39)	I6V	unknown	Het
Or2n1	T	C	17: 38,486,419 (GRCm39)	V148A	probably benign	Het
Or5an6	A	G	19: 12,371,719 (GRCm39)	I31V	not run	Het
Or5j3	C	T	2: 86,128,672 (GRCm39)	P171S	probably benign	Het
Or5m3	T	G	2: 85,838,524 (GRCm39)	S135A	probably damaging	Het
Or5t18	T	A	2: 86,636,515 (GRCm39)	Y276F	probably damaging	Het
Or6b6	C	T	7: 106,571,671 (GRCm39)		probably benign	Het
Or8b52	C	T	9: 38,577,108 (GRCm39)	E11K	probably benign	Het
Or8j3c	T	A	2: 86,253,651 (GRCm39)	Y123F	probably damaging	Het
Pard3b	T	A	1: 62,193,148 (GRCm39)	V217E	probably damaging	Het
Pcdha2	T	A	18: 37,072,513 (GRCm39)	I48N	probably damaging	Het
Pi4ka	A	G	16: 17,120,991 (GRCm39)	F1248L		Het
Plekha2	A	T	8: 25,554,005 (GRCm39)		probably benign	Het
Plpp4	C	T	7: 128,981,201 (GRCm39)	R151C	unknown	Het
Pramel14	T	A	4: 143,718,177 (GRCm39)	Y422F	probably benign	Het
Prdm16	A	G	4: 154,405,339 (GRCm39)	L1245P	probably damaging	Het
Prob1	G	A	18: 35,786,604 (GRCm39)	A550V	probably benign	Het
Prok1	T	C	3: 107,144,408 (GRCm39)	H65R	probably benign	Het
Ptcd1	A	G	5: 145,091,887 (GRCm39)	V404A	probably benign	Het
Sbf2	T	C	7: 109,914,289 (GRCm39)	E1631G	probably benign	Het
Sdad1	C	A	5: 92,447,948 (GRCm39)	K262N	probably benign	Het
Sh3bp1	G	T	15: 78,794,272 (GRCm39)	A547S	probably benign	Het
Sptb	T	C	12: 76,675,333 (GRCm39)	D227G	probably benign	Het
Tbx1	A	G	16: 18,406,769 (GRCm39)	M1T	probably null	Het
Tespa1	T	A	10: 130,183,208 (GRCm39)	V51D	probably damaging	Het
Tmc7	T	C	7: 118,165,468 (GRCm39)	N82S	probably benign	Het
Tmem8b	A	G	4: 43,689,476 (GRCm39)	D290G	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,493 (GRCm39)	T23S	probably damaging	Het
Trib3	A	T	2: 152,180,553 (GRCm39)	D213E	probably damaging	Het
Tubgcp4	T	C	2: 121,013,981 (GRCm39)	V178A	probably benign	Het
Virma	T	A	4: 11,539,918 (GRCm39)	C1412*	probably null	Het
Vmn2r108	T	C	17: 20,691,762 (GRCm39)	T254A	probably benign	Het
Vps13d	A	G	4: 144,882,137 (GRCm39)	V1152A		Het
Wdr47	T	C	3: 108,526,284 (GRCm39)	V269A	probably damaging	Het
Zc3h13	T	A	14: 75,561,977 (GRCm39)	D676E	unknown	Het
Zc3h6	T	A	2: 128,858,934 (GRCm39)	S988R	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
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
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'- GCCCAATCACAGGTCTGTTG -3'
(R):5'- AGTACACACTTCTTGTCTGACC -3'

Sequencing Primer
(F):5'- CAATCACAGGTCTGTTGCTTTGGATC -3'
(R):5'- TGTTCCTGGCTACGCAGG -3'

Posted On

2020-01-23