Incidental Mutation 'IGL02587:Emilin2'
ID 299593
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 # IGL02587
Quality Score
Status
Chromosome 17
Chromosomal Location 71559167-71618551 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 71587851 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

DomainStartEndE-ValueType
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 G A 4: 144,429,969 (GRCm39) T340I possibly damaging Het
Acot10 A T 15: 20,665,883 (GRCm39) V286E possibly damaging Het
Bpifa6 T C 2: 153,831,130 (GRCm39) L232P probably damaging Het
Calr4 A G 4: 109,096,134 (GRCm39) N104S possibly damaging Het
Cdc42bpa A G 1: 179,921,510 (GRCm39) E550G possibly damaging Het
Cfhr4 G A 1: 139,629,668 (GRCm39) T712I probably damaging Het
D3Ertd751e T A 3: 41,708,287 (GRCm39) N141K probably benign Het
Eml6 T C 11: 29,734,236 (GRCm39) E1168G possibly damaging Het
Fbxo48 T C 11: 16,903,659 (GRCm39) I95T probably benign Het
Fpr3 A T 17: 18,190,953 (GRCm39) T75S probably benign Het
Gm5145 A G 17: 20,791,452 (GRCm39) K277E probably damaging Het
Gnao1 A G 8: 94,677,067 (GRCm39) probably benign Het
Krt8 G A 15: 101,907,367 (GRCm39) R239C probably benign Het
Lrrc17 A T 5: 21,766,078 (GRCm39) N187Y probably damaging Het
Neil1 C T 9: 57,052,263 (GRCm39) R195H probably damaging Het
Nr2f1 C A 13: 78,343,275 (GRCm39) probably benign Het
Pi4ka C A 16: 17,135,217 (GRCm39) G946W probably damaging Het
Plcg2 A T 8: 118,284,852 (GRCm39) N159I possibly damaging Het
Rad54l A G 4: 115,962,994 (GRCm39) Y335H probably damaging Het
Rgsl1 C T 1: 153,675,684 (GRCm39) R159H probably damaging Het
Scn11a T C 9: 119,634,750 (GRCm39) D357G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Timeless A G 10: 128,075,785 (GRCm39) M6V probably damaging Het
Vps16 T C 2: 130,281,636 (GRCm39) probably null Het
Zfp955b C A 17: 33,519,624 (GRCm39) Q31K probably damaging Het
Other mutations in Emilin2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16