Mutagenetix > Incidental Mutation

Incidental Mutation 'R1864:Emilin1'

208478

Institutional Source

Beutler Lab

Gene Symbol

Emilin1

Ensembl Gene

ENSMUSG00000029163

Gene Name

elastin microfibril interfacer 1

Synonyms

gp115, 5830419M17Rik, EMILIN-1

MMRRC Submission

039887-MU

Accession Numbers

Essential gene?

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

Stock #

R1864 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31070746-31078621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31075934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 725 (E725G)

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: E725G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: E725G

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

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg2	G	A	X: 159,265,347 (GRCm39)	M532I	probably benign	Het
Agtpbp1	A	G	13: 59,598,016 (GRCm39)	Y1198H	possibly damaging	Het
Ahcyl2	G	A	6: 29,908,354 (GRCm39)	V575M	probably damaging	Het
Akp3	TCACCACCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCACCACCAC	1: 87,055,489 (GRCm39)		probably benign	Het
Ankrd50	A	T	3: 38,508,610 (GRCm39)	N329K	probably benign	Het
Ano4	C	A	10: 88,807,253 (GRCm39)	G741V	probably damaging	Het
Anxa1	T	C	19: 20,357,053 (GRCm39)	D191G	probably benign	Het
Apc2	C	T	10: 80,149,482 (GRCm39)	T1512I	probably damaging	Het
Aph1b	A	T	9: 66,701,395 (GRCm39)	C81S	probably benign	Het
Arhgap21	T	C	2: 20,866,015 (GRCm39)	E893G	probably damaging	Het
Arhgef28	A	T	13: 98,130,640 (GRCm39)	H399Q	probably benign	Het
Asic5	A	G	3: 81,919,294 (GRCm39)	E304G	probably benign	Het
B4galnt4	A	G	7: 140,650,446 (GRCm39)	Y771C	probably damaging	Het
Birc2	G	T	9: 7,819,518 (GRCm39)	Q465K	probably benign	Het
Btla	C	T	16: 45,070,737 (GRCm39)	T232I	probably damaging	Het
Ccl7	G	T	11: 81,937,378 (GRCm39)	K37N	probably benign	Het
Cdk17	T	C	10: 93,061,967 (GRCm39)	V233A	probably damaging	Het
Cenatac	A	G	9: 44,329,018 (GRCm39)	C66R	probably damaging	Het
Cilp2	C	A	8: 70,333,973 (GRCm39)	Q1008H	probably damaging	Het
Clcn1	T	A	6: 42,282,475 (GRCm39)	D442E	probably damaging	Het
Clcnka	T	C	4: 141,120,113 (GRCm39)	T269A	probably damaging	Het
Col12a1	A	T	9: 79,534,385 (GRCm39)		probably null	Het
Cts6	A	G	13: 61,349,393 (GRCm39)	I105T	probably benign	Het
Cyp3a25	T	C	5: 145,931,739 (GRCm39)	D123G	probably damaging	Het
D630003M21Rik	A	T	2: 158,045,105 (GRCm39)	L808Q	probably damaging	Het
Ddrgk1	A	T	2: 130,496,215 (GRCm39)	I270N	probably damaging	Het
Dhx15	T	C	5: 52,342,043 (GRCm39)	T92A	possibly damaging	Het
Dhx32	A	T	7: 133,339,025 (GRCm39)	C197S	probably benign	Het
Diaph2	G	A	X: 128,860,876 (GRCm39)	R473Q	probably damaging	Het
Dnd1	A	G	18: 36,899,057 (GRCm39)	C11R	possibly damaging	Het
Dock1	A	C	7: 134,748,236 (GRCm39)	D1566A	probably benign	Het
Drp2	A	G	X: 133,327,864 (GRCm39)	I43V	probably benign	Het
Ecm2	T	C	13: 49,683,621 (GRCm39)	V533A	probably benign	Het
Ecpas	T	A	4: 58,849,942 (GRCm39)	H427L	possibly damaging	Het
Eml2	A	G	7: 18,935,803 (GRCm39)	Y487C	probably damaging	Het
Epg5	T	A	18: 78,018,246 (GRCm39)	L919H	probably damaging	Het
Fam187a	T	A	11: 102,776,837 (GRCm39)	S214T	probably damaging	Het
Flna	T	C	X: 73,283,869 (GRCm39)	T521A	probably benign	Het
Foxi1	T	A	11: 34,157,531 (GRCm39)	I165F	probably damaging	Het
Fxr2	A	T	11: 69,543,103 (GRCm39)	K633N	probably benign	Het
Gdpd5	T	C	7: 99,098,206 (GRCm39)	I209T	probably benign	Het
Gmpr	G	T	13: 45,696,101 (GRCm39)	V278F	probably damaging	Het
Grm7	A	T	6: 111,057,384 (GRCm39)	D328V	probably benign	Het
Heatr6	T	C	11: 83,660,056 (GRCm39)	S534P	probably damaging	Het
Heph	A	G	X: 95,573,092 (GRCm39)	T792A	probably damaging	Het
Hipk2	T	A	6: 38,695,870 (GRCm39)		probably null	Het
Hps3	T	A	3: 20,074,123 (GRCm39)		probably null	Het
Hspa5	T	C	2: 34,664,553 (GRCm39)	F336L	probably damaging	Het
Insc	T	C	7: 114,441,413 (GRCm39)	I409T	probably benign	Het
Kcnj8	T	A	6: 142,515,966 (GRCm39)	H47L	probably damaging	Het
Kcnma1	T	A	14: 23,853,230 (GRCm39)	Q108L	probably damaging	Het
Klc3	A	G	7: 19,131,966 (GRCm39)	V137A	probably damaging	Het
Lcn2	T	C	2: 32,275,434 (GRCm39)	T194A	possibly damaging	Het
Lgr4	T	A	2: 109,841,742 (GRCm39)	F576I	possibly damaging	Het
Lypd6b	A	G	2: 49,837,459 (GRCm39)	I144V	possibly damaging	Het
Mctp1	G	A	13: 76,533,267 (GRCm39)	C205Y	possibly damaging	Het
Mitf	A	T	6: 97,987,383 (GRCm39)	N159I	probably damaging	Het
Morc1	T	C	16: 48,412,893 (GRCm39)	I678T	probably benign	Het
Muc4	A	G	16: 32,576,625 (GRCm39)		probably benign	Het
Myo7a	T	C	7: 97,701,463 (GRCm39)	Y2115C	probably damaging	Het
Myof	T	C	19: 37,975,153 (GRCm39)	I182V	probably benign	Het
Ncor1	A	G	11: 62,272,245 (GRCm39)	V635A	probably damaging	Het
Neb	G	T	2: 52,102,772 (GRCm39)	Y4257*	probably null	Het
Npr2	T	A	4: 43,641,258 (GRCm39)	V428E	probably benign	Het
Nufip2	A	G	11: 77,583,124 (GRCm39)	D346G	probably damaging	Het
Obsl1	G	A	1: 75,469,753 (GRCm39)	S1088F	probably benign	Het
Or10s1	T	G	9: 39,986,081 (GRCm39)	I163M	possibly damaging	Het
Or2ag1	T	C	7: 106,313,030 (GRCm39)	N286S	possibly damaging	Het
Or4c127	T	A	2: 89,832,825 (GRCm39)	V25E	probably benign	Het
Or4k38	C	T	2: 111,166,052 (GRCm39)	V124M	possibly damaging	Het
Or5ac22	A	G	16: 59,135,378 (GRCm39)	Y131H	probably damaging	Het
Or8b9	T	A	9: 37,766,560 (GRCm39)	Y149N	probably damaging	Het
Pdgfrb	G	A	18: 61,204,789 (GRCm39)	V550I	probably benign	Het
Pi4ka	A	T	16: 17,185,389 (GRCm39)	L237*	probably null	Het
Pla2r1	G	A	2: 60,259,055 (GRCm39)	T1111M	probably benign	Het
Plxnd1	A	T	6: 115,946,402 (GRCm39)		probably null	Het
Pnp	G	C	14: 51,185,430 (GRCm39)	A67P	probably benign	Het
Ppp1r3a	A	T	6: 14,718,404 (GRCm39)	S837T	probably damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prom2	T	C	2: 127,381,707 (GRCm39)	D203G	probably benign	Het
Pum1	T	C	4: 130,478,836 (GRCm39)	V486A	possibly damaging	Het
Rnf115	A	G	3: 96,635,153 (GRCm39)		probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rusc2	C	A	4: 43,421,719 (GRCm39)	A713D	possibly damaging	Het
Ryr3	A	T	2: 112,560,673 (GRCm39)	H3009Q	possibly damaging	Het
Serpina1d	C	A	12: 103,734,256 (GRCm39)	C16F	probably benign	Het
Serpinf2	G	T	11: 75,328,309 (GRCm39)	R80S	possibly damaging	Het
Sh2d4a	C	A	8: 68,781,967 (GRCm39)	Q192K	probably benign	Het
Sh3d21	T	A	4: 126,044,729 (GRCm39)		probably null	Het
Sh3rf2	T	A	18: 42,187,046 (GRCm39)	L55Q	probably damaging	Het
Shc4	T	C	2: 125,481,287 (GRCm39)	D255G	probably damaging	Het
Skint2	T	A	4: 112,483,106 (GRCm39)	H170Q	probably benign	Het
Slc29a4	A	G	5: 142,703,509 (GRCm39)	Y261C	probably damaging	Het
Slc35a5	A	T	16: 44,964,071 (GRCm39)	N102K	possibly damaging	Het
Slc38a3	A	T	9: 107,533,152 (GRCm39)	I307K	probably damaging	Het
Sv2b	A	T	7: 74,773,828 (GRCm39)	S548T	probably benign	Het
Tgfbi	T	C	13: 56,780,694 (GRCm39)	S524P	probably benign	Het
Tgm5	T	C	2: 120,905,699 (GRCm39)	D152G	probably damaging	Het
Tmem213	A	G	6: 38,086,487 (GRCm39)	T48A	possibly damaging	Het
Tmem37	A	G	1: 119,995,952 (GRCm39)	S42P	probably damaging	Het
Trpm1	A	G	7: 63,917,764 (GRCm39)	K1258R	probably damaging	Het
Ttc22	T	C	4: 106,494,003 (GRCm39)	V321A	probably benign	Het
Ube2c	C	A	2: 164,611,943 (GRCm39)	A15E	probably benign	Het
Ubn2	T	A	6: 38,417,425 (GRCm39)	D154E	possibly damaging	Het
Umod	A	T	7: 119,062,478 (GRCm39)	L631M	probably damaging	Het
Ush1c	G	A	7: 45,868,816 (GRCm39)	Q373*	probably null	Het
Vmn1r238	T	A	18: 3,123,040 (GRCm39)	R125*	probably null	Het
Wnt8b	T	C	19: 44,482,029 (GRCm39)	L14P	probably benign	Het
Wrn	G	A	8: 33,778,892 (GRCm39)	A563V	probably damaging	Het
Zfp268	A	T	4: 145,348,998 (GRCm39)	Q145L	possibly damaging	Het
Zfp608	A	G	18: 55,030,983 (GRCm39)	S986P	probably benign	Het
Znrf3	T	C	11: 5,233,373 (GRCm39)	H228R	possibly damaging	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
R0142:Emilin1	UTSW	5	31,071,264 (GRCm39)	missense	probably benign	0.00
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
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'- TGAACGACTCACTCCACGAG -3'
(R):5'- AGGCTAAGTTGCTGCAGAC -3'

Sequencing Primer
(F):5'- AGCTCCAGACCACTGTGGAG -3'
(R):5'- CTAAGTTGCTGCAGACGGTCTTC -3'

Posted On

2014-06-30