Mutagenetix > Incidental Mutations

Incidental Mutation 'R5028:Emilin2'

391536

Institutional Source

Beutler Lab

Gene Symbol

Emilin2

Ensembl Gene

ENSMUSG00000024053

Gene Name

elastin microfibril interfacer 2

Synonyms

FOAP-10, basilin

MMRRC Submission

042619-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5028 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71252176-71310965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71274732 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 333 (E333G)

Ref Sequence

ENSEMBL: ENSMUSP00000024849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024849]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024849
AA Change: E333G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: E333G

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:EMI	48	118	1.2e-18	PFAM
coiled coil region	181	216	N/A	INTRINSIC
coiled coil region	259	308	N/A	INTRINSIC
coiled coil region	590	618	N/A	INTRINSIC
low complexity region	809	826	N/A	INTRINSIC
low complexity region	833	848	N/A	INTRINSIC
low complexity region	914	927	N/A	INTRINSIC
Pfam:C1q	928	1067	5.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180743

Meta Mutation Damage Score

0.1729

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (62/64)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit disruptions in platelet activation, thrombus formation and clot retraction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,274,012	S777C	probably damaging	Het
Ano5	T	A	7: 51,537,710		probably null	Het
Arhgap17	T	A	7: 123,294,673	H508L	probably benign	Het
Arhgap29	T	A	3: 122,010,060		probably null	Het
Atp12a	T	C	14: 56,386,978	F961S	probably damaging	Het
B4galnt4	C	A	7: 141,068,062	P497Q	probably benign	Het
Camsap1	A	G	2: 25,944,556	S364P	probably damaging	Het
Ccdc150	C	A	1: 54,263,477	D85E	probably benign	Het
Cdc45	A	G	16: 18,795,180	Y291H	probably benign	Het
Comp	A	C	8: 70,376,640	N289T	probably damaging	Het
Cops3	T	A	11: 59,818,030		probably benign	Het
Crybg1	G	A	10: 43,998,212	H967Y	possibly damaging	Het
Csmd1	A	T	8: 15,989,090	F2423I	probably damaging	Het
Dact1	C	A	12: 71,318,573	C709*	probably null	Het
Dcxr	T	G	11: 120,726,447	Q90P	probably damaging	Het
Ell	A	G	8: 70,590,699	Y494C	probably damaging	Het
Eml2	T	C	7: 19,179,447		probably null	Het
Fam186b	T	A	15: 99,280,801	M215L	probably damaging	Het
Gm17078	T	A	14: 51,611,242	R13W	probably null	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Hspa14	A	G	2: 3,498,169	F196S	possibly damaging	Het
Ier5	A	G	1: 155,099,103	S110P	possibly damaging	Het
Kif1a	T	A	1: 93,054,327	I793F	possibly damaging	Het
Lrrc43	T	C	5: 123,508,113	I643T	probably damaging	Het
Map3k19	A	T	1: 127,823,232	L794Q	probably benign	Het
Meox2	A	T	12: 37,108,936	M36L	probably benign	Het
Mgat5b	T	A	11: 116,985,029	L693Q	probably damaging	Het
Mup4	T	A	4: 59,958,124	E148V	possibly damaging	Het
Napb	T	C	2: 148,703,137	N162S	possibly damaging	Het
Nlgn2	T	C	11: 69,827,737	D339G	probably benign	Het
Nucks1	C	T	1: 131,928,102	R90C	possibly damaging	Het
Olfr1431	T	A	19: 12,210,154	V196E	possibly damaging	Het
Olfr740	T	C	14: 50,453,739	V229A	probably damaging	Het
Plekhd1	A	T	12: 80,692,949	D24V	probably damaging	Het
Prpf4b	C	T	13: 34,899,975	P909L	probably damaging	Het
Rasgrp1	T	A	2: 117,302,004	K116*	probably null	Het
Ror1	A	G	4: 100,411,936	T324A	possibly damaging	Het
Slc24a4	G	A	12: 102,264,370	G505R	probably damaging	Het
Slc8a1	A	G	17: 81,649,273	I112T	possibly damaging	Het
Smarcc2	A	G	10: 128,461,445	S69G	probably damaging	Het
Smc2	A	T	4: 52,458,447	E429D	probably damaging	Het
Sry	T	C	Y: 2,663,312	D116G	probably damaging	Het
Tcea3	T	A	4: 136,257,935	V154E	possibly damaging	Het
Tigd2	G	A	6: 59,211,220	W357*	probably null	Het
Tmem177	T	A	1: 119,910,689	T87S	probably benign	Het
Treh	A	T	9: 44,682,889	E144V	probably null	Het
Trpm6	T	A	19: 18,786,760	D243E	probably damaging	Het
Ttn	T	C	2: 76,778,050	D17843G	probably damaging	Het
Vars2	A	C	17: 35,659,473		probably null	Het
Vmn1r201	G	A	13: 22,475,360	W248*	probably null	Het
Yap1	T	C	9: 8,001,689	T99A	probably benign	Het
Zbtb8b	C	A	4: 129,433,000	C91F	probably damaging	Het
Zfp882	A	G	8: 71,914,654	T442A	possibly damaging	Het
Zxdc	G	T	6: 90,382,338	G651C	probably benign	Het

Other mutations in Emilin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Emilin2	APN	17	71252859	missense	possibly damaging	0.80
IGL01294:Emilin2	APN	17	71274594	missense	probably benign	0.07
IGL02085:Emilin2	APN	17	71275149	missense	probably damaging	0.99
IGL02433:Emilin2	APN	17	71274129	missense	probably benign
IGL02587:Emilin2	APN	17	71280856	splice site	probably benign
IGL02639:Emilin2	APN	17	71274549	missense	probably benign	0.00
IGL02798:Emilin2	APN	17	71256695	splice site	probably benign
IGL02952:Emilin2	APN	17	71280821	missense	probably damaging	0.99
IGL02954:Emilin2	APN	17	71256531	missense	probably benign	0.37
PIT4431001:Emilin2	UTSW	17	71255995	missense	probably benign	0.16
PIT4802001:Emilin2	UTSW	17	71273469	missense	probably damaging	1.00
R0011:Emilin2	UTSW	17	71273868	missense	probably benign	0.01
R0033:Emilin2	UTSW	17	71275014	missense	probably benign	0.27
R0784:Emilin2	UTSW	17	71275287	missense	possibly damaging	0.83
R0830:Emilin2	UTSW	17	71273820	missense	probably benign
R1301:Emilin2	UTSW	17	71255965	splice site	probably benign
R1394:Emilin2	UTSW	17	71253071	missense	possibly damaging	0.79
R1501:Emilin2	UTSW	17	71310761	missense	probably benign
R1576:Emilin2	UTSW	17	71255117	critical splice donor site	probably null
R1676:Emilin2	UTSW	17	71274090	missense	probably benign	0.14
R2063:Emilin2	UTSW	17	71274955	missense	probably benign
R2149:Emilin2	UTSW	17	71273992	missense	probably benign	0.06
R2238:Emilin2	UTSW	17	71274739	missense	possibly damaging	0.83
R2239:Emilin2	UTSW	17	71310224	missense	probably benign	0.00
R2380:Emilin2	UTSW	17	71310224	missense	probably benign	0.00
R2420:Emilin2	UTSW	17	71274279	missense	possibly damaging	0.90
R3721:Emilin2	UTSW	17	71273454	missense	probably benign	0.12
R4176:Emilin2	UTSW	17	71274263	missense	probably benign	0.00
R4348:Emilin2	UTSW	17	71280731	missense	probably benign
R4352:Emilin2	UTSW	17	71280731	missense	probably benign
R4695:Emilin2	UTSW	17	71252778	missense	probably damaging	1.00
R4807:Emilin2	UTSW	17	71273448	missense	probably damaging	0.98
R4980:Emilin2	UTSW	17	71253071	missense	possibly damaging	0.79
R5048:Emilin2	UTSW	17	71273967	missense	probably damaging	1.00
R5153:Emilin2	UTSW	17	71273502	missense	possibly damaging	0.83
R5519:Emilin2	UTSW	17	71252935	missense	probably benign	0.12
R5580:Emilin2	UTSW	17	71275230	missense	probably benign
R6088:Emilin2	UTSW	17	71255124	missense	probably benign
R6248:Emilin2	UTSW	17	71274117	missense	probably benign	0.04
R6429:Emilin2	UTSW	17	71310956	start gained	probably benign
R7085:Emilin2	UTSW	17	71274105	missense	probably damaging	1.00
R7260:Emilin2	UTSW	17	71274790	missense	probably benign	0.00
R7525:Emilin2	UTSW	17	71274979	missense	probably benign
R7671:Emilin2	UTSW	17	71273910	missense	probably benign	0.00
R7895:Emilin2	UTSW	17	71273913	missense	probably benign	0.03
R8257:Emilin2	UTSW	17	71274000	missense	probably benign
R8310:Emilin2	UTSW	17	71255146	missense	probably damaging	1.00
R8311:Emilin2	UTSW	17	71255146	missense	probably damaging	1.00
X0064:Emilin2	UTSW	17	71280703	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CATTGCAACAGCTTGGTTGG -3'
(R):5'- TTGGCTGAGGTCAAAGACAC -3'

Sequencing Primer
(F):5'- CAACAGCTTGGTTGGGCTACAG -3'
(R):5'- CTGAGGTCAAAGACACACTGAAGAC -3'

Posted On

2016-06-06