Mutagenetix > Incidental Mutation

Incidental Mutation 'R4981:Emilin1'

384812

Institutional Source

Beutler Lab

Gene Symbol

Emilin1

Ensembl Gene

ENSMUSG00000029163

Gene Name

elastin microfibril interfacer 1

Synonyms

gp115, 5830419M17Rik, EMILIN-1

MMRRC Submission

042576-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R4981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31070746-31078621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 31076695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 847 (Q847E)

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: Q847E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: Q847E

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: N908K

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (105/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,095,772 (GRCm39)		probably null	Het
Aatf	T	C	11: 84,402,323 (GRCm39)	D121G	probably benign	Het
Amer2	T	A	14: 60,617,176 (GRCm39)	L331H	probably damaging	Het
Ang4	T	G	14: 52,001,829 (GRCm39)	K40Q	probably benign	Het
Aspm	A	C	1: 139,398,498 (GRCm39)		probably null	Het
Cacna1c	A	T	6: 118,728,432 (GRCm39)	D337E	probably benign	Het
Ccdc124	T	C	8: 71,321,429 (GRCm39)	E134G	probably benign	Het
Ccdc7a	G	T	8: 129,711,464 (GRCm39)	A312E	probably benign	Het
Cd209g	A	G	8: 4,186,845 (GRCm39)	D130G	probably damaging	Het
Cd320	T	C	17: 34,066,549 (GRCm39)	S96P	probably benign	Het
Cenatac	A	T	9: 44,329,245 (GRCm39)	F14Y	probably damaging	Het
Clu	C	G	14: 66,210,815 (GRCm39)	Q134E	probably damaging	Het
Cnksr3	T	A	10: 7,110,777 (GRCm39)	H28L	probably benign	Het
Cntnap1	T	C	11: 101,067,159 (GRCm39)		probably null	Het
Col22a1	C	T	15: 71,732,915 (GRCm39)	C546Y	unknown	Het
Col6a3	C	T	1: 90,706,565 (GRCm39)	V2183I	unknown	Het
Cop1	A	G	1: 159,152,638 (GRCm39)		probably benign	Het
Cpne8	T	C	15: 90,563,438 (GRCm39)	I24V	probably benign	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Dennd5b	G	A	6: 148,911,270 (GRCm39)	L978F	possibly damaging	Het
Depdc1a	G	T	3: 159,229,550 (GRCm39)	M627I	probably benign	Het
Dnah3	A	T	7: 119,555,424 (GRCm39)	N2721K	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg1b	A	G	18: 20,541,925 (GRCm39)	T811A	possibly damaging	Het
Epha3	A	T	16: 63,472,775 (GRCm39)	V370D	probably benign	Het
Epha5	T	A	5: 84,298,342 (GRCm39)	T406S	probably damaging	Het
Ephb1	A	T	9: 101,918,159 (GRCm39)	I450N	probably benign	Het
Ephb2	A	G	4: 136,423,321 (GRCm39)	M319T	probably benign	Het
Eps15l1	A	G	8: 73,132,833 (GRCm39)		probably null	Het
Fbxo9	G	A	9: 77,993,168 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,966,281 (GRCm39)	I838T	probably damaging	Het
Fnbp4	T	C	2: 90,596,174 (GRCm39)	F582L	probably damaging	Het
Frs3	T	C	17: 48,000,187 (GRCm39)		probably null	Het
Fscb	C	T	12: 64,520,393 (GRCm39)	V358I	possibly damaging	Het
Fus	G	T	7: 127,566,727 (GRCm39)		probably benign	Het
Fyb1	CCTCTCTCTCTCTCTCTCTCT	CCTCTCTCTCTCTCTCTCT	15: 6,676,092 (GRCm39)		probably benign	Het
Glra3	A	T	8: 56,444,270 (GRCm39)	I77F	possibly damaging	Het
Gm4454	C	T	7: 38,269,860 (GRCm39)		noncoding transcript	Het
Gng3	G	A	19: 8,815,625 (GRCm39)	A37V	possibly damaging	Het
Grin3b	T	A	10: 79,812,191 (GRCm39)		probably benign	Het
Herpud1	A	G	8: 95,118,422 (GRCm39)	Y41C	probably damaging	Het
Igkv4-92	G	C	6: 68,732,028 (GRCm39)	S115R	possibly damaging	Het
Ikbip	T	A	10: 90,931,848 (GRCm39)	I164N	probably benign	Het
Kank1	A	G	19: 25,388,759 (GRCm39)	T783A	probably benign	Het
Kcnq3	A	T	15: 65,903,254 (GRCm39)	V152E	possibly damaging	Het
Kif23	C	T	9: 61,839,153 (GRCm39)	R314H	probably damaging	Het
Klc4	T	C	17: 46,955,287 (GRCm39)	H49R	probably benign	Het
Klhl20	A	T	1: 160,930,575 (GRCm39)	I309N	possibly damaging	Het
Lgals4	A	G	7: 28,540,701 (GRCm39)	Y268C	probably damaging	Het
Lingo4	A	G	3: 94,306,761 (GRCm39)	Q13R	probably benign	Het
Lmtk2	C	A	5: 144,113,265 (GRCm39)	F1328L	probably damaging	Het
Mapk14	A	G	17: 28,960,765 (GRCm39)	R179G	probably damaging	Het
Mbd3l1	A	T	9: 18,396,201 (GRCm39)	T109S	probably benign	Het
Megf6	T	C	4: 154,351,907 (GRCm39)	F1169L	possibly damaging	Het
Mrgpra1	A	T	7: 46,984,959 (GRCm39)	V240D	probably damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myh1	T	C	11: 67,115,300 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,716,553 (GRCm39)	I172V	probably benign	Het
Nemp1	T	A	10: 127,529,399 (GRCm39)	L178Q	probably damaging	Het
Numa1	T	C	7: 101,641,881 (GRCm39)	S110P	probably damaging	Het
Or4a75	A	G	2: 89,447,769 (GRCm39)	Y256H	probably damaging	Het
Or4c117	T	C	2: 88,955,845 (GRCm39)	T77A	probably benign	Het
Or51k1	A	G	7: 103,661,312 (GRCm39)	I199T	probably damaging	Het
Or5ak25	A	G	2: 85,268,813 (GRCm39)	S230P	probably damaging	Het
Or8k30	T	C	2: 86,339,171 (GRCm39)	Y123H	probably damaging	Het
Or9q1	A	T	19: 13,805,458 (GRCm39)	F101I	probably damaging	Het
Pard3b	T	G	1: 62,383,219 (GRCm39)	M771R	probably damaging	Het
Phkg2	A	G	7: 127,181,551 (GRCm39)	I245V	probably damaging	Het
Pik3cg	A	T	12: 32,254,103 (GRCm39)	M628K	possibly damaging	Het
Poln	A	G	5: 34,264,429 (GRCm39)		probably null	Het
Ppip5k1	A	T	2: 121,142,871 (GRCm39)	S1172T	probably damaging	Het
Prdm5	A	T	6: 65,847,446 (GRCm39)	H363L	probably damaging	Het
Prkdc	A	G	16: 15,496,173 (GRCm39)	Y788C	probably damaging	Het
Prrc2c	T	A	1: 162,520,116 (GRCm39)	R2076S	probably damaging	Het
Sh2d2a	A	G	3: 87,756,728 (GRCm39)	Y191C	probably damaging	Het
Slc20a1	T	C	2: 129,041,919 (GRCm39)	I94T	probably damaging	Het
Sptbn2	T	C	19: 4,801,686 (GRCm39)	V2366A	probably benign	Het
Stab2	T	A	10: 86,796,087 (GRCm39)	M387L	probably benign	Het
Syne2	T	G	12: 75,987,993 (GRCm39)	M1718R	probably damaging	Het
Synm	G	T	7: 67,384,235 (GRCm39)	F700L	probably benign	Het
Tmco4	T	C	4: 138,718,012 (GRCm39)	F51L	possibly damaging	Het
Tmem104	C	A	11: 115,095,962 (GRCm39)	P168T	probably damaging	Het
Tril	G	T	6: 53,795,905 (GRCm39)	T439K	probably benign	Het
Trim2	A	G	3: 84,085,042 (GRCm39)	L559P	probably damaging	Het
Trim3	A	G	7: 105,268,335 (GRCm39)	V149A	probably damaging	Het
Triml2	A	G	8: 43,640,717 (GRCm39)	N191S	probably benign	Het
Usp4	A	G	9: 108,258,617 (GRCm39)	D16G	probably benign	Het
Vmn2r58	G	A	7: 41,486,885 (GRCm39)	T670I	probably damaging	Het
Vmn2r97	G	T	17: 19,160,436 (GRCm39)	G524*	probably null	Het
Xpo5	C	A	17: 46,531,743 (GRCm39)	F426L	probably damaging	Het
Zfp800	A	G	6: 28,247,190 (GRCm39)	L84S	probably damaging	Het
Zranb2	T	G	3: 157,252,378 (GRCm39)		probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
R1864:Emilin1	UTSW	5	31,075,934 (GRCm39)	missense	probably damaging	1.00
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
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'- AATCAGACACCTTGCCTGCAG -3'
(R):5'- AGGAGCCAAATGACCACTTTC -3'

Sequencing Primer
(F):5'- GACCCCGTGTCTCCATCAG -3'
(R):5'- CTGGGAATTGAACTCAGGATCTC -3'

Posted On

2016-05-10