Mutagenetix > Incidental Mutation

Incidental Mutation 'R0142:Emilin1'

22368

Institutional Source

Beutler Lab

Gene Symbol

Emilin1

Ensembl Gene

ENSMUSG00000029163

Gene Name

elastin microfibril interfacer 1

Synonyms

gp115, 5830419M17Rik, EMILIN-1

MMRRC Submission

038427-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R0142 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

31070746-31078621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31071264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 16 (T16A)

Ref Sequence

ENSEMBL: ENSMUSP00000031055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031055]

AlphaFold

Q99K41

Predicted Effect

probably benign
Transcript: ENSMUST00000031055
AA Change: T16A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: T16A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:EMI	57	128	1.2e-19	PFAM
low complexity region	141	155	N/A	INTRINSIC
low complexity region	157	171	N/A	INTRINSIC
coiled coil region	174	210	N/A	INTRINSIC
coiled coil region	237	263	N/A	INTRINSIC
coiled coil region	310	342	N/A	INTRINSIC
low complexity region	389	400	N/A	INTRINSIC
internal_repeat_1	422	474	9.62e-7	PROSPERO
coiled coil region	527	563	N/A	INTRINSIC
low complexity region	606	627	N/A	INTRINSIC
low complexity region	629	639	N/A	INTRINSIC
internal_repeat_1	704	758	9.62e-7	PROSPERO
low complexity region	780	810	N/A	INTRINSIC
Pfam:Collagen	813	870	3.3e-10	PFAM
Pfam:C1q	873	1008	1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201169

Meta Mutation Damage Score

0.0662

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.6%

Validation Efficiency

92% (61/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display no goss abnormalities. However, histological defects occur in the skin and aorta relating to elastin fiber abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	G	11: 110,079,467 (GRCm39)	D1229A	probably damaging	Het
Abhd8	A	C	8: 71,914,506 (GRCm39)	F41V	probably damaging	Het
Ago4	T	G	4: 126,410,725 (GRCm39)	E222A	probably benign	Het
Ap3b2	T	C	7: 81,122,828 (GRCm39)	I470V	probably damaging	Het
Bcl9l	C	T	9: 44,418,409 (GRCm39)	T749M	probably benign	Het
Bicc1	T	C	10: 70,761,200 (GRCm39)	K937E	probably damaging	Het
Bmi1	G	A	2: 18,688,095 (GRCm39)		probably null	Het
Boc	A	C	16: 44,310,604 (GRCm39)	I772S	probably damaging	Het
Brd10	A	G	19: 29,695,654 (GRCm39)	S1347P	possibly damaging	Het
C2	T	A	17: 35,092,504 (GRCm39)	I178F	possibly damaging	Het
Cacna1c	G	T	6: 118,580,843 (GRCm39)	A1416E	probably damaging	Het
Chst10	A	G	1: 38,910,810 (GRCm39)	L118P	probably damaging	Het
Crybg1	G	A	10: 43,875,059 (GRCm39)	T683I	possibly damaging	Het
Cul5	C	T	9: 53,546,350 (GRCm39)	V314I	probably damaging	Het
Dnajc17	C	A	2: 119,010,415 (GRCm39)	R211I	probably benign	Het
Ercc6l2	A	C	13: 64,020,320 (GRCm39)		probably benign	Het
Fsd2	T	A	7: 81,209,683 (GRCm39)	D53V	probably damaging	Het
Galnt13	A	G	2: 54,988,615 (GRCm39)	D479G	probably damaging	Het
Grk3	A	T	5: 113,062,919 (GRCm39)	W643R	probably damaging	Het
Hdgf	G	A	3: 87,820,416 (GRCm39)	A4T	possibly damaging	Het
Hnrnpr	T	A	4: 136,054,593 (GRCm39)	V182E	probably damaging	Het
Ipo13	A	C	4: 117,762,766 (GRCm39)	L279R	probably damaging	Het
Itga9	C	A	9: 118,465,654 (GRCm39)	N169K	probably damaging	Het
Jph3	A	G	8: 122,480,110 (GRCm39)	T263A	possibly damaging	Het
Jph4	G	T	14: 55,345,783 (GRCm39)	Q625K	probably benign	Het
Kctd3	A	C	1: 188,728,595 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,742,954 (GRCm39)	S570C	probably damaging	Het
Klhl5	G	A	5: 65,300,693 (GRCm39)	W164*	probably null	Het
Lacc1	A	T	14: 77,268,239 (GRCm39)	H357Q	probably benign	Het
Lama2	A	G	10: 27,063,841 (GRCm39)	I1316T	probably benign	Het
Lcp2	C	T	11: 34,032,418 (GRCm39)	P332L	probably damaging	Het
Map3k6	A	T	4: 132,978,257 (GRCm39)	H1033L	probably benign	Het
Mfsd2b	A	G	12: 4,916,234 (GRCm39)	V252A	probably benign	Het
Myo16	T	A	8: 10,619,790 (GRCm39)	I1447N	probably benign	Het
Myo19	G	A	11: 84,785,429 (GRCm39)	R224H	probably damaging	Het
Myo5a	C	T	9: 75,067,856 (GRCm39)	H637Y	probably benign	Het
Nek10	C	T	14: 14,861,560 (GRCm38)	R539C	possibly damaging	Het
Nfix	A	T	8: 85,448,315 (GRCm39)	V404E	probably damaging	Het
Nr1i2	T	C	16: 38,073,368 (GRCm39)	R203G	probably benign	Het
Nup210l	G	A	3: 90,079,420 (GRCm39)	G968D	probably damaging	Het
Or10q1	A	T	19: 13,726,619 (GRCm39)	I50F	probably benign	Het
Or2ag15	G	T	7: 106,340,972 (GRCm39)	H56Q	probably benign	Het
Or8b37	A	T	9: 37,959,406 (GRCm39)	H296L	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Plcz1	A	G	6: 139,953,423 (GRCm39)	F398S	probably damaging	Het
Ppfibp2	C	A	7: 107,343,384 (GRCm39)	P808T	probably damaging	Het
Srpk2	T	C	5: 23,732,928 (GRCm39)	K239E	probably damaging	Het
Svep1	A	G	4: 58,118,232 (GRCm39)	V830A	probably benign	Het
Tesc	A	T	5: 118,194,635 (GRCm39)	I149F	possibly damaging	Het
Thsd7a	A	G	6: 12,418,334 (GRCm39)	W632R	probably damaging	Het
Tmprss9	A	G	10: 80,730,212 (GRCm39)	D704G	possibly damaging	Het
Tob1	T	C	11: 94,105,423 (GRCm39)	Y320H	probably damaging	Het
Trpm3	G	T	19: 22,965,280 (GRCm39)	D1582Y	probably damaging	Het
Ttc28	A	G	5: 111,425,323 (GRCm39)	K1716R	probably benign	Het
Uqcrfs1	A	G	13: 30,724,925 (GRCm39)	V205A	probably benign	Het
Usp29	G	A	7: 6,965,334 (GRCm39)	M392I	probably benign	Het
Uspl1	A	T	5: 149,125,159 (GRCm39)	Y22F	possibly damaging	Het
Virma	C	A	4: 11,548,783 (GRCm39)	N1780K	probably benign	Het
Vmn1r56	C	T	7: 5,199,372 (GRCm39)	A82T	probably benign	Het
Vmn2r5	A	T	3: 64,400,009 (GRCm39)	C553S	probably damaging	Het
Vwce	A	T	19: 10,641,976 (GRCm39)	R901W	probably damaging	Het
Wdpcp	C	A	11: 21,807,444 (GRCm39)		probably null	Het
Zfp423	A	T	8: 88,506,968 (GRCm39)	C1000*	probably null	Het
Zscan20	A	G	4: 128,479,630 (GRCm39)	F954L	probably benign	Het

Other mutations in Emilin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Emilin1	APN	5	31,071,246 (GRCm39)	missense	probably damaging	0.97
IGL01100:Emilin1	APN	5	31,075,748 (GRCm39)	missense	probably benign
IGL02150:Emilin1	APN	5	31,077,517 (GRCm39)	missense	possibly damaging	0.85
IGL02416:Emilin1	APN	5	31,075,132 (GRCm39)	missense	possibly damaging	0.92
IGL02973:Emilin1	APN	5	31,078,007 (GRCm39)	missense	probably damaging	0.97
R0419:Emilin1	UTSW	5	31,072,366 (GRCm39)	missense	probably damaging	1.00
R1580:Emilin1	UTSW	5	31,074,764 (GRCm39)	missense	probably damaging	0.99
R1679:Emilin1	UTSW	5	31,077,543 (GRCm39)	missense	probably benign	0.00
R1802:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R1803:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R1864:Emilin1	UTSW	5	31,075,934 (GRCm39)	missense	probably damaging	1.00
R1958:Emilin1	UTSW	5	31,075,160 (GRCm39)	missense	probably benign	0.03
R2061:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R2100:Emilin1	UTSW	5	31,075,241 (GRCm39)	missense	probably benign	0.01
R2201:Emilin1	UTSW	5	31,073,036 (GRCm39)	missense	probably benign	0.33
R2206:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R2274:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R2275:Emilin1	UTSW	5	31,075,082 (GRCm39)	missense	possibly damaging	0.68
R2285:Emilin1	UTSW	5	31,075,544 (GRCm39)	missense	probably damaging	1.00
R2851:Emilin1	UTSW	5	31,074,509 (GRCm39)	missense	probably benign	0.38
R3706:Emilin1	UTSW	5	31,075,166 (GRCm39)	missense	possibly damaging	0.47
R4205:Emilin1	UTSW	5	31,077,243 (GRCm39)	unclassified	probably benign
R4865:Emilin1	UTSW	5	31,075,128 (GRCm39)	missense	possibly damaging	0.93
R4878:Emilin1	UTSW	5	31,074,410 (GRCm39)	missense	probably benign
R4981:Emilin1	UTSW	5	31,076,695 (GRCm39)	missense	probably benign
R5113:Emilin1	UTSW	5	31,077,964 (GRCm39)	missense	possibly damaging	0.73
R5232:Emilin1	UTSW	5	31,074,323 (GRCm39)	missense	probably benign	0.00
R5853:Emilin1	UTSW	5	31,075,966 (GRCm39)	missense	probably damaging	0.98
R6358:Emilin1	UTSW	5	31,075,562 (GRCm39)	missense	probably damaging	0.98
R6807:Emilin1	UTSW	5	31,072,871 (GRCm39)	missense	probably benign	0.10
R6932:Emilin1	UTSW	5	31,074,421 (GRCm39)	missense	probably damaging	1.00
R6955:Emilin1	UTSW	5	31,075,253 (GRCm39)	missense	probably damaging	1.00
R7047:Emilin1	UTSW	5	31,074,422 (GRCm39)	missense	probably benign	0.05
R7278:Emilin1	UTSW	5	31,078,004 (GRCm39)	missense	probably benign	0.32
R7305:Emilin1	UTSW	5	31,074,433 (GRCm39)	nonsense	probably null
R8087:Emilin1	UTSW	5	31,074,444 (GRCm39)	missense	probably damaging	1.00
R8208:Emilin1	UTSW	5	31,074,860 (GRCm39)	missense	probably damaging	1.00
R8516:Emilin1	UTSW	5	31,074,515 (GRCm39)	missense	probably damaging	1.00
R8686:Emilin1	UTSW	5	31,075,040 (GRCm39)	missense	possibly damaging	0.85
R9224:Emilin1	UTSW	5	31,074,823 (GRCm39)	missense	probably damaging	1.00
R9526:Emilin1	UTSW	5	31,075,484 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTCAGGAAACAGTCTCTGAAAGG -3'
(R):5'- TGTGTTAAGCCTGTTGCCCACC -3'

Sequencing Primer
(F):5'- CAGTCTCTGAAAGGGGCAG -3'
(R):5'- CCTGTTGCCCACCTTCTAAAG -3'

Posted On

2013-04-16