Mutagenetix > Incidental Mutation

Incidental Mutation 'R5232:Emilin1'

398599

Institutional Source

Beutler Lab

Gene Symbol

Emilin1

Ensembl Gene

ENSMUSG00000029163

Gene Name

elastin microfibril interfacer 1

Synonyms

5830419M17Rik, gp115, EMILIN-1

MMRRC Submission

042804-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R5232 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30913402-30921277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30916979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 188 (K188R)

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 benign
Transcript: ENSMUST00000031055
AA Change: K188R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: K188R

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: ENSMUST00000166839
AA Change: R118G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,338,922	E1295G	probably damaging	Het
Adarb2	C	A	13: 8,713,640	H524Q	possibly damaging	Het
Arhgap26	A	G	18: 38,993,476	M1V	probably null	Het
Atp10b	G	A	11: 43,202,179	R447H	probably damaging	Het
B4galnt3	T	A	6: 120,232,988	Y58F	probably damaging	Het
Cdca7l	A	G	12: 117,870,085	E79G	probably damaging	Het
Chd4	C	G	6: 125,121,310	P350A	probably damaging	Het
Coq2	G	A	5: 100,657,832	H313Y	possibly damaging	Het
Cubn	A	T	2: 13,478,202	C244*	probably null	Het
Cyfip2	A	G	11: 46,242,378	S832P	probably damaging	Het
Dnaaf1	A	C	8: 119,590,590	E286A	probably benign	Het
Fstl5	T	C	3: 76,144,977	W5R	possibly damaging	Het
Gm5565	T	A	5: 146,160,137	Y64F	possibly damaging	Het
Golga4	G	A	9: 118,506,558		probably null	Het
Hmcn2	T	C	2: 31,457,748	L4802P	probably damaging	Het
Hnrnpll	C	T	17: 80,038,678	V385I	probably damaging	Het
Kctd9	A	T	14: 67,724,661	D51V	probably damaging	Het
Lcn9	T	C	2: 25,824,055		probably null	Het
Map1a	C	A	2: 121,301,985	P856H	probably damaging	Het
Myo5b	G	C	18: 74,714,932	E1080D	probably damaging	Het
Naglu	T	C	11: 101,070,150	I9T	probably benign	Het
Ndst3	A	T	3: 123,672,239	I28N	probably damaging	Het
Olfm4	A	G	14: 80,021,682	N424D	probably damaging	Het
Olfr722	A	G	14: 49,895,698	Y35H	probably damaging	Het
Olfr742	T	A	14: 50,516,038	V278E	probably damaging	Het
Phf13	T	C	4: 151,992,223	T171A	probably damaging	Het
Plk3	A	G	4: 117,129,120	V605A	probably benign	Het
Polr3a	A	T	14: 24,453,211	M1185K	probably benign	Het
Pramel7	A	T	2: 87,489,976	H324Q	probably damaging	Het
Prpf4b	T	A	13: 34,883,590		probably benign	Het
Pxdn	C	T	12: 29,990,988	T421I	probably benign	Het
Sertad2	C	T	11: 20,648,344	T180I	possibly damaging	Het
Sgo2b	C	A	8: 63,928,602	A399S	possibly damaging	Het
Skint5	T	C	4: 113,577,644	K1043E	unknown	Het
Slc22a27	C	G	19: 7,865,938	A359P	probably damaging	Het
Spock3	T	C	8: 63,345,809	F288S	probably damaging	Het
Srgap1	T	C	10: 121,840,911	I393V	probably benign	Het
Taf6	T	C	5: 138,179,952	K429R	possibly damaging	Het
Vav1	T	C	17: 57,303,846	F447L	possibly damaging	Het
Vmn2r19	T	C	6: 123,335,957	M662T	probably benign	Het
Zfp541	A	G	7: 16,095,179	Y1152C	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
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
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
R8516:Emilin1	UTSW	5	30917171	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
R9526:Emilin1	UTSW	5	30918140	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGCCCAAATCATCCAAAGGAG -3'
(R):5'- TTGTTAAGGTGGCCCAGCTC -3'

Sequencing Primer
(F):5'- GAGAGCCTTCTGACCCTTGAC -3'
(R):5'- CTCCTGGTCATGAGTGGAGAC -3'

Posted On

2016-07-06