Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00916:Emilin1'

27408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emilin1

Ensembl Gene

ENSMUSG00000029163

Gene Name

elastin microfibril interfacer 1

Synonyms

5830419M17Rik, gp115, EMILIN-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

IGL00916

Quality Score

Status

Chromosome

Chromosomal Location

30913402-30921277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30913902 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 10 (Y10H)

Ref Sequence

ENSEMBL: ENSMUSP00000031055 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031055
AA Change: Y10H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: Y10H

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

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,852	Q762L	probably benign	Het
Aldh1a1	T	C	19: 20,619,997	V114A	probably benign	Het
Ano4	T	C	10: 88,998,098	I459V	probably benign	Het
Atad5	C	T	11: 80,119,000	P1199S	probably damaging	Het
Bmp10	T	C	6: 87,429,160	F43S	possibly damaging	Het
Cd96	T	C	16: 46,041,312	E505G	probably benign	Het
D17Wsu92e	A	G	17: 27,767,919	Y278H	probably damaging	Het
Eapp	T	C	12: 54,692,808	T75A	possibly damaging	Het
Ercc6	A	G	14: 32,562,655		probably benign	Het
Gucy2e	T	C	11: 69,223,097	I1089V	possibly damaging	Het
H6pd	C	A	4: 149,994,468		probably null	Het
Igsf10	A	T	3: 59,331,127	F544L	probably damaging	Het
Il23r	T	C	6: 67,473,931	Y188C	probably damaging	Het
Inpp5j	T	C	11: 3,502,389	E287G	probably damaging	Het
Lrp6	T	C	6: 134,484,289	D735G	probably damaging	Het
Mast2	A	T	4: 116,327,633	M240K	possibly damaging	Het
Mreg	T	A	1: 72,164,132	T96S	probably benign	Het
Mta2	A	T	19: 8,947,101	M220L	probably benign	Het
Mycbp2	A	G	14: 103,291,283		probably benign	Het
Naip2	T	A	13: 100,161,431	N699I	probably damaging	Het
Ncapg	T	G	5: 45,671,192	I95S	probably benign	Het
Ndufa13	A	G	8: 69,894,419		probably benign	Het
Nol10	T	A	12: 17,361,129		probably benign	Het
Parp8	T	A	13: 116,927,323	I85F	probably damaging	Het
Rgs2	T	A	1: 144,002,229	I78F	probably damaging	Het
Rpia	C	T	6: 70,775,102		probably benign	Het
Sec63	T	C	10: 42,812,457	S488P	possibly damaging	Het
Tfcp2	T	G	15: 100,520,678	H201P	probably damaging	Het
Tnfaip2	T	G	12: 111,453,549	I705R	probably damaging	Het
Ttf1	A	G	2: 29,070,042	N554S	probably benign	Het
Ulk1	A	G	5: 110,793,011	S351P	probably damaging	Het
Zp2	T	A	7: 120,138,174	N264Y	probably damaging	Het

Other mutations in Emilin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Emilin1	APN	5	30918404	missense	probably benign
IGL02150:Emilin1	APN	5	30920173	missense	possibly damaging	0.85
IGL02416:Emilin1	APN	5	30917788	missense	possibly damaging	0.92
IGL02973:Emilin1	APN	5	30920663	missense	probably damaging	0.97
R0142:Emilin1	UTSW	5	30913920	missense	probably benign	0.00
R0419:Emilin1	UTSW	5	30915022	missense	probably damaging	1.00
R1580:Emilin1	UTSW	5	30917420	missense	probably damaging	0.99
R1679:Emilin1	UTSW	5	30920199	missense	probably benign	0.00
R1802:Emilin1	UTSW	5	30917738	missense	possibly damaging	0.68
R1803:Emilin1	UTSW	5	30917738	missense	possibly damaging	0.68
R1864:Emilin1	UTSW	5	30918590	missense	probably damaging	1.00
R1958:Emilin1	UTSW	5	30917816	missense	probably benign	0.03
R2061:Emilin1	UTSW	5	30917738	missense	possibly damaging	0.68
R2100:Emilin1	UTSW	5	30917897	missense	probably benign	0.01
R2201:Emilin1	UTSW	5	30915692	missense	probably benign	0.33
R2206:Emilin1	UTSW	5	30917738	missense	possibly damaging	0.68
R2274:Emilin1	UTSW	5	30917738	missense	possibly damaging	0.68
R2275:Emilin1	UTSW	5	30917738	missense	possibly damaging	0.68
R2285:Emilin1	UTSW	5	30918200	missense	probably damaging	1.00
R2851:Emilin1	UTSW	5	30917165	missense	probably benign	0.38
R3706:Emilin1	UTSW	5	30917822	missense	possibly damaging	0.47
R4205:Emilin1	UTSW	5	30919899	unclassified	probably benign
R4865:Emilin1	UTSW	5	30917784	missense	possibly damaging	0.93
R4878:Emilin1	UTSW	5	30917066	missense	probably benign
R4981:Emilin1	UTSW	5	30919351	missense	probably benign
R5113:Emilin1	UTSW	5	30920620	missense	possibly damaging	0.73
R5232:Emilin1	UTSW	5	30916979	missense	probably benign	0.00
R5853:Emilin1	UTSW	5	30918622	missense	probably damaging	0.98
R6358:Emilin1	UTSW	5	30918218	missense	probably damaging	0.98
R6807:Emilin1	UTSW	5	30915527	missense	probably benign	0.10
R6932:Emilin1	UTSW	5	30917077	missense	probably damaging	1.00
R6955:Emilin1	UTSW	5	30917909	missense	probably damaging	1.00
R7047:Emilin1	UTSW	5	30917078	missense	probably benign	0.05
R7278:Emilin1	UTSW	5	30920660	missense	probably benign	0.32
R7305:Emilin1	UTSW	5	30917089	nonsense	probably null

Posted On

2013-04-17