Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02798:Emilin2'

360061

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: 0.086) question?

Stock #

IGL02798

Quality Score

Status

Chromosome

Chromosomal Location

71559167-71618551 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 71563690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024849 (fasta)

Gene Model

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

AlphaFold

Q8K482

Predicted Effect

probably benign
Transcript: ENSMUST00000024849

SMART Domains

Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,277,724 (GRCm39)	C514S	probably damaging	Het
Alcam	A	G	16: 52,126,002 (GRCm39)	I105T	probably damaging	Het
Arhgef10l	A	T	4: 140,292,441 (GRCm39)		probably null	Het
Arhgef17	A	G	7: 100,578,833 (GRCm39)	V705A	probably benign	Het
C87436	T	A	6: 86,423,184 (GRCm39)	C253S	probably benign	Het
Cbx7	T	C	15: 79,802,600 (GRCm39)	T226A	probably damaging	Het
Cdh20	T	C	1: 104,875,190 (GRCm39)	I324T	probably damaging	Het
Celsr3	A	T	9: 108,720,774 (GRCm39)	H2608L	probably damaging	Het
Cramp1	A	G	17: 25,187,894 (GRCm39)		probably benign	Het
Ddx25	A	G	9: 35,462,693 (GRCm39)	C231R	probably damaging	Het
Hip1r	T	C	5: 124,132,775 (GRCm39)		probably benign	Het
Insrr	C	T	3: 87,717,824 (GRCm39)	P842S	probably damaging	Het
Lama1	G	T	17: 68,102,186 (GRCm39)		probably benign	Het
Lig3	T	C	11: 82,686,531 (GRCm39)		probably benign	Het
Lrp4	C	A	2: 91,307,055 (GRCm39)	T392K	probably benign	Het
Msl2	G	T	9: 100,957,430 (GRCm39)	R33S	probably benign	Het
Nrde2	T	A	12: 100,110,081 (GRCm39)	K317*	probably null	Het
Nub1	C	A	5: 24,897,812 (GRCm39)	A42D	probably damaging	Het
Obox2	T	C	7: 15,130,807 (GRCm39)	V13A	possibly damaging	Het
Or13p3	T	C	4: 118,566,696 (GRCm39)	F31L	probably damaging	Het
Or4k5	T	A	14: 50,385,835 (GRCm39)	K165N	probably benign	Het
Or5ac20	A	T	16: 59,104,478 (GRCm39)	C127*	probably null	Het
Phkb	T	C	8: 86,770,406 (GRCm39)	Y892H	probably benign	Het
Ptdss1	A	G	13: 67,124,824 (GRCm39)	Y341C	probably damaging	Het
Ripor2	A	T	13: 24,858,649 (GRCm39)	D147V	probably damaging	Het
Scn7a	T	C	2: 66,544,219 (GRCm39)	D424G	probably benign	Het
Scn9a	C	T	2: 66,370,903 (GRCm39)	R559Q	possibly damaging	Het
Sctr	G	A	1: 119,949,910 (GRCm39)	C33Y	probably damaging	Het
Sh2b2	G	T	5: 136,250,817 (GRCm39)	A419E	probably damaging	Het
Slc22a30	A	T	19: 8,347,449 (GRCm39)	M317K	probably damaging	Het
Slc39a4	T	C	15: 76,499,382 (GRCm39)	S178G	probably benign	Het
Slc7a12	T	A	3: 14,546,217 (GRCm39)	C121S	probably damaging	Het
Slmap	T	C	14: 26,191,533 (GRCm39)	S148G	possibly damaging	Het
Tent5a	A	T	9: 85,206,937 (GRCm39)	V287E	probably damaging	Het
Tktl2	A	G	8: 66,965,963 (GRCm39)	K507R	probably benign	Het
Ttn	T	G	2: 76,586,207 (GRCm39)	K21841N	probably damaging	Het
Ugcg	T	C	4: 59,220,346 (GRCm39)	Y380H	probably damaging	Het
Zfp106	T	C	2: 120,340,991 (GRCm39)	T1840A	probably damaging	Het
Zmynd8	T	C	2: 165,694,070 (GRCm39)		probably null	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
IGL01294:Emilin2	APN	17	71,581,589 (GRCm39)	missense	probably benign	0.07
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
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

2015-12-18