Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02952:Emilin2'

364965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emilin2

Ensembl Gene

ENSMUSG00000024053

Gene Name

elastin microfibril interfacer 2

Synonyms

FOAP-10, basilin

Accession Numbers

Is this an essential gene?

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

Stock #

IGL02952

Quality Score

Status

Chromosome

Chromosomal Location

71252176-71310965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 71280821 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 99 (V99F)

Ref Sequence

ENSEMBL: ENSMUSP00000024849 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000024849
AA Change: V99F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: V99F

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

Coding Region Coverage

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415F23Rik	A	T	1: 23,101,990	I81N	probably damaging	Het
A2m	A	T	6: 121,678,025	D1436V	probably damaging	Het
Abca7	G	T	10: 80,007,408	R1239L	probably damaging	Het
Acp2	T	C	2: 91,208,443		probably benign	Het
Adamts4	A	G	1: 171,251,348	N179S	probably damaging	Het
Adgrv1	T	C	13: 81,433,636	D4763G	probably benign	Het
Atp11b	T	C	3: 35,828,695	V633A	probably damaging	Het
Cadm2	A	T	16: 66,664,452	I342K	probably damaging	Het
Capn10	T	C	1: 92,945,174	S541P	probably damaging	Het
Ccnf	A	G	17: 24,231,325	L462P	possibly damaging	Het
Cdc27	T	C	11: 104,517,464	Y546C	probably damaging	Het
Cep120	G	T	18: 53,683,228		probably benign	Het
Cetn2	T	C	X: 72,914,202		probably null	Het
Cyp1a1	C	T	9: 57,702,710	S469L	probably benign	Het
Dnah17	G	A	11: 118,088,268	T1766I	probably benign	Het
Doc2g	G	A	19: 4,006,719	G345D	possibly damaging	Het
Dock4	T	C	12: 40,710,903		probably null	Het
Dopey1	T	A	9: 86,532,922		probably benign	Het
Exoc8	A	G	8: 124,897,536	S31P	probably benign	Het
Fam198b	T	C	3: 79,886,339	L38P	probably damaging	Het
Gm3115	T	C	14: 4,084,302		probably benign	Het
Gm9742	T	A	13: 8,029,894		noncoding transcript	Het
Gpr160	T	C	3: 30,896,294	Y172H	probably benign	Het
Ifnk	T	A	4: 35,152,495	L141Q	probably damaging	Het
Klhl36	A	G	8: 119,870,484	E308G	probably benign	Het
Lrp1b	T	C	2: 41,506,703	I450M	probably benign	Het
Noxa1	T	C	2: 25,091,761	Y110C	probably damaging	Het
Olfr287	T	C	15: 98,207,589	Y265C	probably damaging	Het
Pkd2	A	T	5: 104,480,160	T367S	possibly damaging	Het
Polg2	T	C	11: 106,772,713	I385V	possibly damaging	Het
Prr14l	A	G	5: 32,835,670	S17P	unknown	Het
Prss22	C	A	17: 23,996,723	C75F	probably damaging	Het
Ptgs1	A	G	2: 36,251,241	K567E	probably benign	Het
Ptprz1	A	G	6: 23,036,926	I1141M	probably damaging	Het
R3hcc1l	A	G	19: 42,563,994	K477E	probably damaging	Het
Riok1	A	G	13: 38,048,890	Y194C	probably damaging	Het
Smr2	T	A	5: 88,088,236	C16S	possibly damaging	Het
Stk25	A	T	1: 93,626,076	I187N	probably damaging	Het
Trhde	T	C	10: 114,800,573	E243G	probably damaging	Het
Vmn2r3	T	C	3: 64,278,835	E143G	probably damaging	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
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
R5028:Emilin2	UTSW	17	71274732	missense	possibly damaging	0.91
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

Posted On

2015-12-18