Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00565:Emilin2'

10472

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 #

IGL00565

Quality Score

Status

Chromosome

Chromosomal Location

71559167-71618551 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71559854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1041 (V1041A)

Ref Sequence

ENSEMBL: ENSMUSP00000024849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024849] [ENSMUST00000126681] [ENSMUST00000129635]

AlphaFold

Q8K482

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024849
AA Change: V1041A

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: V1041A

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

probably benign
Transcript: ENSMUST00000126681

SMART Domains

Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	39	148	1e-47	PFAM
low complexity region	191	206	N/A	INTRINSIC
low complexity region	217	227	N/A	INTRINSIC
low complexity region	398	420	N/A	INTRINSIC
Pfam:Lipin_mid	504	596	6.1e-37	PFAM
LNS2	720	876	2.18e-107	SMART
low complexity region	924	930	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129635

SMART Domains

Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	114	2.2e-53	PFAM
low complexity region	153	168	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC
low complexity region	360	382	N/A	INTRINSIC
LNS2	682	838	2.18e-107	SMART
low complexity region	886	892	N/A	INTRINSIC

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
2610021A01Rik	C	A	7: 41,274,996 (GRCm39)	T233K	possibly damaging	Het
Adamts9	A	T	6: 92,836,883 (GRCm39)	M623K	possibly damaging	Het
Arid1a	T	G	4: 133,412,793 (GRCm39)	D1467A	unknown	Het
Cdhr2	A	G	13: 54,866,112 (GRCm39)	D304G	probably damaging	Het
Cenpj	C	T	14: 56,790,487 (GRCm39)	V521I	probably benign	Het
Ciao2a	A	T	9: 66,039,898 (GRCm39)	I72L	probably benign	Het
Csf2rb	G	T	15: 78,232,714 (GRCm39)	E674*	probably null	Het
Dnai3	T	C	3: 145,750,674 (GRCm39)		probably benign	Het
Edaradd	C	T	13: 12,498,480 (GRCm39)		probably null	Het
Fam135b	A	G	15: 71,343,361 (GRCm39)	V418A	probably benign	Het
Gnas	T	A	2: 174,183,504 (GRCm39)		probably benign	Het
Grxcr1	A	T	5: 68,189,540 (GRCm39)	N104Y	possibly damaging	Het
Gtf2a1l	T	A	17: 89,001,723 (GRCm39)	L146Q	probably damaging	Het
Hectd1	T	A	12: 51,837,181 (GRCm39)	E791D	probably damaging	Het
Ifi203	A	G	1: 173,765,306 (GRCm39)		probably null	Het
Klk1b11	A	G	7: 43,649,243 (GRCm39)	N260S	probably damaging	Het
LTO1	G	T	7: 144,470,220 (GRCm39)	V50F	probably damaging	Het
Map4	A	T	9: 109,901,672 (GRCm39)		probably benign	Het
Marveld2	C	T	13: 100,737,401 (GRCm39)	V163M	possibly damaging	Het
Med14	T	C	X: 12,613,003 (GRCm39)		probably benign	Het
Mex3b	A	T	7: 82,518,116 (GRCm39)	I144F	probably damaging	Het
Pde2a	T	A	7: 101,133,796 (GRCm39)	C92*	probably null	Het
Phf6	T	A	X: 52,020,516 (GRCm39)	Y103N	probably damaging	Het
Ptprt	A	G	2: 161,402,111 (GRCm39)	I1039T	probably damaging	Het
Rftn2	C	A	1: 55,243,444 (GRCm39)	V275F	probably damaging	Het
Skap1	C	A	11: 96,621,971 (GRCm39)	Q296K	probably damaging	Het
Skap1	T	A	11: 96,622,016 (GRCm39)	F311I	probably damaging	Het
Tas2r115	A	G	6: 132,714,741 (GRCm39)	I70T	probably benign	Het
Vav2	T	C	2: 27,167,250 (GRCm39)	D613G	probably benign	Het
Zranb3	T	C	1: 127,943,877 (GRCm39)	E290G	probably benign	Het

Other mutations in Emilin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06