Mutagenetix > Incidental Mutations

Incidental Mutation 'R2206:Emilin1'

239033

Institutional Source

Beutler Lab

Gene Symbol

Emilin1

Ensembl Gene

ENSMUSG00000029163

Gene Name

elastin microfibril interfacer 1

Synonyms

5830419M17Rik, gp115, EMILIN-1

MMRRC Submission

040208-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R2206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30913402-30921277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30917738 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 441 (P441L)

Ref Sequence

ENSEMBL: ENSMUSP00000031055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031053] [ENSMUST00000031055] [ENSMUST00000201571] [ENSMUST00000201621] [ENSMUST00000202752]

Predicted Effect

probably benign
Transcript: ENSMUST00000031053

SMART Domains

Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	293	5.7e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031055
AA Change: P441L

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: P441L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201571

SMART Domains

Protein: ENSMUSP00000144226
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	70	2.4e-5	PFAM
Pfam:PfkB	65	249	4.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201621

SMART Domains

Protein: ENSMUSP00000144050
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	294	1.5e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202368

Predicted Effect

probably benign
Transcript: ENSMUST00000202752

SMART Domains

Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162

Domain	Start	End	E-Value	Type
Pfam:PfkB	3	243	5.8e-18	PFAM

Meta Mutation Damage Score

0.0622

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,106	V300A	probably benign	Het
2310057M21Rik	A	T	7: 131,362,602	C24S	probably benign	Het
2410137M14Rik	A	G	17: 36,978,073		probably benign	Het
Abhd18	G	A	3: 40,910,573	G83D	probably benign	Het
Adam34	T	C	8: 43,652,237	I124V	probably benign	Het
Adck2	A	G	6: 39,583,839	D123G	probably damaging	Het
Arhgef2	A	G	3: 88,629,914	E37G	probably damaging	Het
Armc4	C	A	18: 7,223,676	G456W	probably benign	Het
Axl	T	C	7: 25,770,636	Y466C	probably damaging	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Bpifb9a	A	T	2: 154,264,241		probably null	Het
Brip1	A	G	11: 86,061,877	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,385,013	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133	Y109C	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cst13	A	T	2: 148,823,282	R66W	probably damaging	Het
Cstf2t	A	G	19: 31,083,775	N237S	probably benign	Het
Dhx8	A	G	11: 101,750,971	T632A	probably benign	Het
Disp2	G	T	2: 118,792,244	Q1152H	probably benign	Het
Dlg1	A	G	16: 31,853,846	H599R	probably benign	Het
Dmxl1	T	C	18: 49,894,094	S2090P	probably benign	Het
Dnajc13	C	G	9: 104,203,518	V821L	probably damaging	Het
Dopey1	T	A	9: 86,521,599	H1617Q	probably benign	Het
Ephb4	T	C	5: 137,357,719	C197R	probably damaging	Het
Foxn1	C	A	11: 78,358,804	A632S	probably benign	Het
Fpr3	A	C	17: 17,970,646	T60P	probably damaging	Het
Gja4	A	T	4: 127,312,617	S118T	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Itfg1	A	T	8: 85,776,198	S246R	probably benign	Het
Kazn	A	T	4: 142,118,292		probably null	Het
Mdn1	T	C	4: 32,716,271	L2111P	possibly damaging	Het
Myo6	A	G	9: 80,258,455	Y374C	probably benign	Het
Olfr1160	A	G	2: 88,006,235	V181A	probably benign	Het
Olfr1451	A	G	19: 12,999,040	D18G	probably benign	Het
Olfr345	G	T	2: 36,640,189	R50M	possibly damaging	Het
Olfr403	G	T	11: 74,196,324	V274L	possibly damaging	Het
Pcdhb15	A	T	18: 37,475,022	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,491,289	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,335,580	M518T	probably benign	Het
Pcmtd1	A	T	1: 7,169,583	I83L	probably benign	Het
Pitrm1	T	A	13: 6,569,291	Y721N	probably damaging	Het
Prcp	C	T	7: 92,928,612	T328I	probably damaging	Het
Psg27	C	A	7: 18,567,111	E6*	probably null	Het
Pth1r	T	A	9: 110,723,587	E465V	probably damaging	Het
Pus7l	T	C	15: 94,523,590	Y613C	probably damaging	Het
Rsl1	A	G	13: 67,182,828	T447A	probably benign	Het
Setd3	C	T	12: 108,107,285	V578M	probably benign	Het
Slc10a1	T	C	12: 80,967,628	N106S	probably damaging	Het
Slc29a3	T	C	10: 60,715,907	M453V	possibly damaging	Het
Slc4a8	T	C	15: 100,807,445	V844A	probably damaging	Het
Sorcs1	T	C	19: 50,230,217	H609R	possibly damaging	Het
Tmppe	C	G	9: 114,405,572	P313R	probably benign	Het
Tnxb	A	C	17: 34,709,417	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,873,442	N1643S	probably benign	Het
Trmt1l	T	C	1: 151,435,843		probably null	Het
Vmn1r177	A	T	7: 23,866,131	C107S	probably damaging	Het
Vmn1r225	A	G	17: 20,502,349	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Wdr7	T	A	18: 63,777,607	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,303,402	E36D	possibly damaging	Het
Zbtb40	G	A	4: 137,017,285	Q275*	probably null	Het
Zfp513	T	G	5: 31,200,423	K202T	probably damaging	Het

Other mutations in Emilin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Emilin1	APN	5	30913902	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCTAGATGTAGTGACTGGCTC -3'
(R):5'- TTCCAAGGCACTGAGGATCTC -3'

Sequencing Primer
(F):5'- CTGGCTCACTGACAGTGCTAAG -3'
(R):5'- TGAGGATCTCATTGACCCGAGAATC -3'

Posted On

2014-10-02