Mutagenetix > Incidental Mutation

Incidental Mutation 'R1481:Eln'

164365

Institutional Source

Beutler Lab

Gene Symbol

Eln

Ensembl Gene

ENSMUSG00000029675

Gene Name

elastin

Synonyms

E030024M20Rik, tropoelastin

MMRRC Submission

039534-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134731447-134776177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134735426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 786 (K786E)

Ref Sequence

ENSEMBL: ENSMUSP00000015138 (fasta)

Gene Model

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

AlphaFold

P54320

Predicted Effect

probably damaging
Transcript: ENSMUST00000015138
AA Change: K786E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000015138
Gene: ENSMUSG00000029675
AA Change: K786E

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

Meta Mutation Damage Score

0.0719

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef5	A	G	6: 43,251,568 (GRCm39)	H773R	probably damaging	Het
Bltp1	T	C	3: 37,062,583 (GRCm39)	V3365A	probably damaging	Het
Bmp3	G	A	5: 99,020,329 (GRCm39)	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,148,722 (GRCm39)		probably benign	Het
Ccdc178	C	T	18: 22,238,678 (GRCm39)	G313D	probably benign	Het
Cd300ld2	T	A	11: 114,903,459 (GRCm39)	I129F	probably benign	Het
Cep170	T	C	1: 176,609,951 (GRCm39)	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,637,696 (GRCm39)	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,045,393 (GRCm39)	N336K	probably damaging	Het
Coil	T	A	11: 88,864,886 (GRCm39)	C38S	possibly damaging	Het
Cps1	T	C	1: 67,183,041 (GRCm39)	V133A	probably damaging	Het
Cspg4	A	G	9: 56,795,094 (GRCm39)	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,036,032 (GRCm39)	D293N	probably benign	Het
Cyp2f2	T	C	7: 26,821,302 (GRCm39)	S72P	probably benign	Het
Dip2c	G	A	13: 9,601,902 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,731,918 (GRCm39)	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,583,941 (GRCm39)	V469I	probably benign	Het
Efcab14	A	G	4: 115,613,714 (GRCm39)	T221A	probably benign	Het
Ehbp1	T	C	11: 21,956,782 (GRCm39)	*1207W	probably null	Het
Fyb1	C	T	15: 6,649,128 (GRCm39)	P385S	probably benign	Het
Galr1	A	G	18: 82,423,866 (GRCm39)	I137T	possibly damaging	Het
Gcm1	A	T	9: 77,966,999 (GRCm39)	K73*	probably null	Het
Gemin5	T	C	11: 58,032,480 (GRCm39)	N775D	probably damaging	Het
Gli3	C	T	13: 15,788,435 (GRCm39)	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,518,089 (GRCm39)		probably benign	Het
Gpr37	T	C	6: 25,669,137 (GRCm39)	D569G	probably damaging	Het
Grina	T	A	15: 76,133,289 (GRCm39)	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,292,310 (GRCm39)		probably null	Het
Kcnc4	C	T	3: 107,355,534 (GRCm39)	V305M	probably benign	Het
Kntc1	T	C	5: 123,916,338 (GRCm39)	F724L	probably benign	Het
Kpnb1	T	C	11: 97,069,136 (GRCm39)	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,586,809 (GRCm39)	T269A	probably benign	Het
Lamc1	T	C	1: 153,097,380 (GRCm39)	K1555E	probably damaging	Het
Maneal	T	C	4: 124,755,650 (GRCm39)	Y104C	probably damaging	Het
Map1b	T	C	13: 99,567,679 (GRCm39)	T1681A	unknown	Het
Mettl17	T	C	14: 52,128,160 (GRCm39)	L272P	probably benign	Het
Mib2	T	A	4: 155,741,456 (GRCm39)	S357C	probably benign	Het
Mmp19	C	A	10: 128,634,047 (GRCm39)	T316K	possibly damaging	Het
Mroh9	C	T	1: 162,854,078 (GRCm39)	G774E	probably damaging	Het
Myh1	T	C	11: 67,096,325 (GRCm39)		probably benign	Het
Ncor2	C	A	5: 125,104,202 (GRCm39)	E963*	probably null	Het
Nol6	T	A	4: 41,123,596 (GRCm39)	T51S	probably benign	Het
Nsun3	A	T	16: 62,555,732 (GRCm39)	C265S	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,623,517 (GRCm39)	N71K	probably damaging	Het
Or10a5	T	G	7: 106,635,356 (GRCm39)	L5R	probably benign	Het
Or5p73	C	T	7: 108,065,167 (GRCm39)	T212I	probably benign	Het
Orc3	T	A	4: 34,607,228 (GRCm39)	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,575,889 (GRCm39)	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,502,616 (GRCm39)	V1241E	probably null	Het
Prpf39	C	T	12: 65,100,088 (GRCm39)	P135S	probably damaging	Het
Psrc1	T	C	3: 108,292,309 (GRCm39)	V34A	probably benign	Het
Rab27a	G	A	9: 72,989,684 (GRCm39)	V52M	probably benign	Het
Rassf9	A	G	10: 102,381,895 (GRCm39)	T424A	probably benign	Het
Ripor3	G	T	2: 167,842,297 (GRCm39)	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,466,867 (GRCm39)		probably benign	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Setbp1	C	T	18: 78,826,516 (GRCm39)	V1366M	probably benign	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Tctn2	T	C	5: 124,745,826 (GRCm39)		noncoding transcript	Het
Tmem45a	A	T	16: 56,631,965 (GRCm39)	F218I	possibly damaging	Het
Tpte	A	T	8: 22,845,487 (GRCm39)	R512S	probably damaging	Het
Trim37	T	A	11: 87,020,585 (GRCm39)	L22*	probably null	Het
Ttc6	A	G	12: 57,783,916 (GRCm39)	N1792D	probably damaging	Het
Ttn	A	G	2: 76,775,960 (GRCm39)	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,684,137 (GRCm39)	W201R	probably damaging	Het
Wdr74	C	T	19: 8,715,592 (GRCm39)	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,260,086 (GRCm39)	T259A	probably benign	Het

Other mutations in Eln

Allele	Source	Chr	Coord	Type	Predicted Effect
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
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
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'- GTTTCCAGAACCCCACTGATTGTCC -3'
(R):5'- TGGAGTTCATTCCTAGCACCAGAGAG -3'

Sequencing Primer
(F):5'- ATACCTCCACCTGGGAATGG -3'
(R):5'- CAGAGACTATTAGAAAGATGGGTGTG -3'

Posted On

2014-03-28