Mutagenetix > Incidental Mutations

Incidental Mutation 'R8516:Emilin1'

656138

Institutional Source

Beutler Lab

Gene Symbol

Emilin1

Ensembl Gene

ENSMUSG00000029163

Gene Name

elastin microfibril interfacer 1

Synonyms

5830419M17Rik, gp115, EMILIN-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R8516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30913402-30921277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30917171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 252 (R252H)

Ref Sequence

ENSEMBL: ENSMUSP00000031055 (fasta)

Gene Model

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

AlphaFold

Q99K41

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

probably damaging
Transcript: ENSMUST00000031055
AA Change: R252H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: R252H

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

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

probably benign
Transcript: ENSMUST00000202752

SMART Domains

Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373	S22T	probably benign	Het
Actr8	G	T	14: 29,990,899	A500S	probably benign	Het
Adamtsl1	A	G	4: 86,342,543	Y1005C	probably damaging	Het
Ank3	T	A	10: 69,927,729	Y884*	probably null	Het
Arhgap28	T	C	17: 67,873,073	R306G	probably benign	Het
Atp8a2	A	C	14: 59,691,472	I1044M	probably benign	Het
Bahd1	A	G	2: 118,916,971	Y357C	probably benign	Het
Btd	A	T	14: 31,666,867	T182S	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cisd2	T	C	3: 135,411,013	T106A	probably damaging	Het
Cldn15	G	T	5: 136,974,696	C184F	probably damaging	Het
Clk4	G	A	11: 51,275,261	R198Q	probably damaging	Het
Coprs	G	T	8: 13,885,065	F163L	probably damaging	Het
Csmd3	G	A	15: 47,629,365	R2216*	probably null	Het
Defb7	A	T	8: 19,497,607	I43F	possibly damaging	Het
Dpp8	C	A	9: 65,078,009	T783K	probably damaging	Het
Eif2s1	G	A	12: 78,881,162	G204D	probably damaging	Het
Elavl4	T	C	4: 110,251,379	N56S	probably damaging	Het
Exd1	A	T	2: 119,520,073	L569Q	probably damaging	Het
Gm498	T	A	7: 143,897,274	I342N	probably damaging	Het
Gpn2	C	T	4: 133,584,831	R125C	probably damaging	Het
Gria2	T	C	3: 80,706,987	E582G	probably benign	Het
Hadha	A	T	5: 30,126,584	V458E	probably damaging	Het
Hap1	T	C	11: 100,356,067	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,349,010	H3356L	possibly damaging	Het
Herc2	G	A	7: 56,206,570	V3919I	probably benign	Het
Lgr6	G	T	1: 135,075,283	N76K	probably damaging	Het
Olfr692	A	G	7: 105,368,769	I148V	probably benign	Het
P4ha3	A	G	7: 100,314,662	M462V	probably damaging	Het
Pde3b	A	T	7: 114,526,849	M773L	probably benign	Het
Peak1	T	C	9: 56,260,000	S215G	probably damaging	Het
Pgm5	T	A	19: 24,815,710	M331L	probably benign	Het
Piwil2	A	G	14: 70,420,739	V213A	probably benign	Het
Plch2	T	C	4: 154,986,307	H1205R	probably benign	Het
Pop4	A	T	7: 38,267,402	M85K	probably benign	Het
Ppp3ca	T	A	3: 136,877,768	I212N	probably damaging	Het
Prom1	T	C	5: 44,007,099	K714R	probably benign	Het
Psip1	C	T	4: 83,466,715	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,335	*1259Q	probably null	Het
Scn1a	C	T	2: 66,326,134	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,012,103	E222G	probably null	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spem2	T	C	11: 69,816,895	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,098,396	V13E	probably damaging	Het
Trim2	C	T	3: 84,208,320	A102T	probably damaging	Het
Trim30b	A	G	7: 104,357,404	S82P	probably benign	Het
Uba6	A	C	5: 86,127,748	S760R	possibly damaging	Het
Upf2	T	C	2: 6,018,971	F711L	unknown	Het
Utrn	T	A	10: 12,486,510	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,435,124	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,574,613	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,709,158	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,772,880	C256S	probably damaging	Het
Xrn1	T	A	9: 96,048,391	Y1554*	probably null	Het
Zc3h12a	T	A	4: 125,119,839	S411C	probably damaging	Het
Zfp112	G	A	7: 24,123,964	G63E	probably benign	Het
Zfp786	A	T	6: 47,820,543	L487Q	probably damaging	Het
Zfp953	T	A	13: 67,345,355	Y75F	possibly 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
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
R8087:Emilin1	UTSW	5	30917100	missense	probably damaging	1.00
R8208:Emilin1	UTSW	5	30917516	missense	probably damaging	1.00
R8686:Emilin1	UTSW	5	30917696	missense	possibly damaging	0.85
R9224:Emilin1	UTSW	5	30917479	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGAGCTGCAAGGCCTTCG -3'
(R):5'- TTAGCTTCTCCAGGGTTCGC -3'

Sequencing Primer
(F):5'- AAGGCCTTCGGGGTGTC -3'
(R):5'- CTCTTGCTGCTGCTGGCG -3'

Posted On

2020-10-20