Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01294:Emilin2'

73016

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emilin2

Ensembl Gene

ENSMUSG00000024053

Gene Name

elastin microfibril interfacer 2

Synonyms

basilin, FOAP-10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL01294

Quality Score

Status

Chromosome

Chromosomal Location

71559167-71618551 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71581589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 379 (A379E)

Ref Sequence

ENSEMBL: ENSMUSP00000024849 (fasta)

Gene Model

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

AlphaFold

Q8K482

Predicted Effect

probably benign
Transcript: ENSMUST00000024849
AA Change: A379E

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: A379E

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 127,836,291 (GRCm39)	S101T	probably benign	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Arglu1	G	T	8: 8,733,739 (GRCm39)		probably benign	Het
Cacna2d2	T	G	9: 107,391,280 (GRCm39)	Y436D	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cpne8	G	A	15: 90,385,648 (GRCm39)	S460L	probably damaging	Het
Crat	G	A	2: 30,295,199 (GRCm39)	A436V	probably damaging	Het
Dmd	T	C	X: 83,475,604 (GRCm39)		probably null	Het
Ercc2	A	G	7: 19,124,342 (GRCm39)	I445V	probably benign	Het
Evc2	T	C	5: 37,504,854 (GRCm39)		probably null	Het
Filip1l	A	T	16: 57,392,711 (GRCm39)	K1100*	probably null	Het
Gm4353	T	A	7: 115,683,077 (GRCm39)	D168V	possibly damaging	Het
Hsf4	G	T	8: 106,002,289 (GRCm39)	*417L	probably null	Het
Kmt2a	A	G	9: 44,731,594 (GRCm39)		probably benign	Het
Macroh2a1	A	T	13: 56,222,113 (GRCm39)	V346E	probably damaging	Het
Mpzl1	A	G	1: 165,421,177 (GRCm39)	S261P	probably damaging	Het
Mre11a	T	C	9: 14,742,211 (GRCm39)	S621P	probably damaging	Het
Muc6	T	C	7: 141,232,926 (GRCm39)	Y934C	probably damaging	Het
Naip5	A	G	13: 100,353,588 (GRCm39)	S1224P	probably damaging	Het
Nwd1	A	T	8: 73,438,373 (GRCm39)	N1474Y	probably damaging	Het
Or2ag20	T	C	7: 106,464,970 (GRCm39)	L261S	probably damaging	Het
Ptbp2	A	G	3: 119,541,461 (GRCm39)	V192A	probably damaging	Het
Rfx2	T	C	17: 57,090,657 (GRCm39)	Y421C	probably damaging	Het
Sfmbt2	T	A	2: 10,595,232 (GRCm39)		probably benign	Het
Slc4a10	A	C	2: 62,083,653 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,987,506 (GRCm39)	M734V	probably benign	Het
Tap1	T	C	17: 34,413,019 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,067,114 (GRCm39)		probably benign	Het
Uba6	T	A	5: 86,297,907 (GRCm39)	I256L	possibly damaging	Het
Wnt3	A	T	11: 103,699,140 (GRCm39)	H82L	possibly damaging	Het

Other mutations in Emilin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Emilin2	APN	17	71,559,854 (GRCm39)	missense	possibly damaging	0.80
IGL02085:Emilin2	APN	17	71,582,144 (GRCm39)	missense	probably damaging	0.99
IGL02433:Emilin2	APN	17	71,581,124 (GRCm39)	missense	probably benign
IGL02587:Emilin2	APN	17	71,587,851 (GRCm39)	splice site	probably benign
IGL02639:Emilin2	APN	17	71,581,544 (GRCm39)	missense	probably benign	0.00
IGL02798:Emilin2	APN	17	71,563,690 (GRCm39)	splice site	probably benign
IGL02952:Emilin2	APN	17	71,587,816 (GRCm39)	missense	probably damaging	0.99
IGL02954:Emilin2	APN	17	71,563,526 (GRCm39)	missense	probably benign	0.37
PIT4431001:Emilin2	UTSW	17	71,562,990 (GRCm39)	missense	probably benign	0.16
PIT4802001:Emilin2	UTSW	17	71,580,464 (GRCm39)	missense	probably damaging	1.00
R0011:Emilin2	UTSW	17	71,580,863 (GRCm39)	missense	probably benign	0.01
R0033:Emilin2	UTSW	17	71,582,009 (GRCm39)	missense	probably benign	0.27
R0784:Emilin2	UTSW	17	71,582,282 (GRCm39)	missense	possibly damaging	0.83
R0830:Emilin2	UTSW	17	71,580,815 (GRCm39)	missense	probably benign
R1301:Emilin2	UTSW	17	71,562,960 (GRCm39)	splice site	probably benign
R1394:Emilin2	UTSW	17	71,560,066 (GRCm39)	missense	possibly damaging	0.79
R1501:Emilin2	UTSW	17	71,617,756 (GRCm39)	missense	probably benign
R1576:Emilin2	UTSW	17	71,562,112 (GRCm39)	critical splice donor site	probably null
R1676:Emilin2	UTSW	17	71,581,085 (GRCm39)	missense	probably benign	0.14
R2063:Emilin2	UTSW	17	71,581,950 (GRCm39)	missense	probably benign
R2149:Emilin2	UTSW	17	71,580,987 (GRCm39)	missense	probably benign	0.06
R2238:Emilin2	UTSW	17	71,581,734 (GRCm39)	missense	possibly damaging	0.83
R2239:Emilin2	UTSW	17	71,617,219 (GRCm39)	missense	probably benign	0.00
R2380:Emilin2	UTSW	17	71,617,219 (GRCm39)	missense	probably benign	0.00
R2420:Emilin2	UTSW	17	71,581,274 (GRCm39)	missense	possibly damaging	0.90
R3721:Emilin2	UTSW	17	71,580,449 (GRCm39)	missense	probably benign	0.12
R4176:Emilin2	UTSW	17	71,581,258 (GRCm39)	missense	probably benign	0.00
R4348:Emilin2	UTSW	17	71,587,726 (GRCm39)	missense	probably benign
R4352:Emilin2	UTSW	17	71,587,726 (GRCm39)	missense	probably benign
R4695:Emilin2	UTSW	17	71,559,773 (GRCm39)	missense	probably damaging	1.00
R4807:Emilin2	UTSW	17	71,580,443 (GRCm39)	missense	probably damaging	0.98
R4980:Emilin2	UTSW	17	71,560,066 (GRCm39)	missense	possibly damaging	0.79
R5028:Emilin2	UTSW	17	71,581,727 (GRCm39)	missense	possibly damaging	0.91
R5048:Emilin2	UTSW	17	71,580,962 (GRCm39)	missense	probably damaging	1.00
R5153:Emilin2	UTSW	17	71,580,497 (GRCm39)	missense	possibly damaging	0.83
R5519:Emilin2	UTSW	17	71,559,930 (GRCm39)	missense	probably benign	0.12
R5580:Emilin2	UTSW	17	71,582,225 (GRCm39)	missense	probably benign
R6088:Emilin2	UTSW	17	71,562,119 (GRCm39)	missense	probably benign
R6248:Emilin2	UTSW	17	71,581,112 (GRCm39)	missense	probably benign	0.04
R6429:Emilin2	UTSW	17	71,617,951 (GRCm39)	start gained	probably benign
R7085:Emilin2	UTSW	17	71,581,100 (GRCm39)	missense	probably damaging	1.00
R7260:Emilin2	UTSW	17	71,581,785 (GRCm39)	missense	probably benign	0.00
R7525:Emilin2	UTSW	17	71,581,974 (GRCm39)	missense	probably benign
R7671:Emilin2	UTSW	17	71,580,905 (GRCm39)	missense	probably benign	0.00
R7895:Emilin2	UTSW	17	71,580,908 (GRCm39)	missense	probably benign	0.03
R8257:Emilin2	UTSW	17	71,580,995 (GRCm39)	missense	probably benign
R8310:Emilin2	UTSW	17	71,562,141 (GRCm39)	missense	probably damaging	1.00
R8311:Emilin2	UTSW	17	71,562,141 (GRCm39)	missense	probably damaging	1.00
R8811:Emilin2	UTSW	17	71,582,282 (GRCm39)	missense	possibly damaging	0.83
R8973:Emilin2	UTSW	17	71,582,079 (GRCm39)	missense	probably benign	0.28
R9146:Emilin2	UTSW	17	71,581,331 (GRCm39)	missense	probably damaging	1.00
R9170:Emilin2	UTSW	17	71,587,689 (GRCm39)	missense	probably benign	0.05
R9200:Emilin2	UTSW	17	71,581,229 (GRCm39)	missense	possibly damaging	0.63
R9345:Emilin2	UTSW	17	71,581,539 (GRCm39)	missense	probably benign	0.01
R9432:Emilin2	UTSW	17	71,581,781 (GRCm39)	missense	probably benign	0.02
R9455:Emilin2	UTSW	17	71,581,485 (GRCm39)	missense	probably benign
R9625:Emilin2	UTSW	17	71,581,112 (GRCm39)	missense	probably benign	0.04
R9743:Emilin2	UTSW	17	71,580,867 (GRCm39)	missense	probably benign	0.01
X0064:Emilin2	UTSW	17	71,587,698 (GRCm39)	missense	probably benign	0.01

Posted On

2013-10-07