Incidental Mutation 'IGL02085:Emilin2'
| ID |
283512 |
| 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)
|
| Stock # |
IGL02085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71559167-71618551 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71582144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 194
(V194A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024849]
|
| AlphaFold |
Q8K482 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024849
AA Change: V194A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: V194A
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,192,854 (GRCm39) |
|
probably null |
Het |
| Akr1c14 |
T |
A |
13: 4,128,035 (GRCm39) |
C145* |
probably null |
Het |
| Arhgef26 |
A |
G |
3: 62,367,145 (GRCm39) |
|
probably benign |
Het |
| Asb9 |
A |
G |
X: 163,318,452 (GRCm39) |
M215V |
probably benign |
Het |
| Atoh8 |
C |
A |
6: 72,212,157 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
T |
A |
6: 83,730,897 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
T |
C |
16: 55,735,868 (GRCm39) |
E310G |
probably damaging |
Het |
| Ctrc |
C |
T |
4: 141,571,025 (GRCm39) |
D72N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,349,011 (GRCm39) |
I2492T |
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,500,586 (GRCm39) |
T524A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,313,505 (GRCm39) |
N497S |
possibly damaging |
Het |
| Gabpb1 |
A |
T |
2: 126,481,191 (GRCm39) |
C319* |
probably null |
Het |
| Galnt10 |
A |
G |
11: 57,673,104 (GRCm39) |
T487A |
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,981,961 (GRCm39) |
|
probably null |
Het |
| Hmg20a |
C |
T |
9: 56,384,586 (GRCm39) |
Q119* |
probably null |
Het |
| Ifi44l |
A |
G |
3: 151,468,477 (GRCm39) |
S18P |
unknown |
Het |
| Immt |
T |
A |
6: 71,828,820 (GRCm39) |
V125E |
probably benign |
Het |
| Ints13 |
T |
C |
6: 146,451,437 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,779,321 (GRCm39) |
G2574S |
probably benign |
Het |
| Myoc |
T |
C |
1: 162,467,343 (GRCm39) |
C171R |
probably benign |
Het |
| Ncbp1 |
C |
T |
4: 46,159,699 (GRCm39) |
T404M |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,998 (GRCm39) |
N140D |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,542,898 (GRCm39) |
M1041L |
possibly damaging |
Het |
| Nsmaf |
G |
A |
4: 6,398,551 (GRCm39) |
P851L |
probably benign |
Het |
| Nutm2 |
T |
A |
13: 50,627,829 (GRCm39) |
|
probably null |
Het |
| Or10ak8 |
A |
G |
4: 118,773,947 (GRCm39) |
F239S |
probably damaging |
Het |
| Or2g25 |
A |
G |
17: 37,970,579 (GRCm39) |
V215A |
probably benign |
Het |
| Or4f61 |
A |
C |
2: 111,922,869 (GRCm39) |
M59R |
probably damaging |
Het |
| Padi2 |
T |
G |
4: 140,654,468 (GRCm39) |
Y206* |
probably null |
Het |
| Pcdh19 |
A |
T |
X: 132,582,007 (GRCm39) |
Y766* |
probably null |
Het |
| Pde12 |
A |
G |
14: 26,387,619 (GRCm39) |
|
probably benign |
Het |
| Ppl |
C |
T |
16: 4,907,680 (GRCm39) |
G872R |
probably benign |
Het |
| Prkag3 |
C |
T |
1: 74,787,971 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
T |
C |
3: 151,541,437 (GRCm39) |
T24A |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,321,283 (GRCm39) |
V365A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,388,118 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
T |
C |
6: 142,032,200 (GRCm39) |
T642A |
probably benign |
Het |
| Slco6d1 |
C |
A |
1: 98,371,468 (GRCm39) |
P275T |
probably damaging |
Het |
| Smarca1 |
G |
T |
X: 46,964,109 (GRCm39) |
Q343K |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,567,495 (GRCm39) |
T180A |
possibly damaging |
Het |
| Tfrc |
G |
A |
16: 32,440,004 (GRCm39) |
V406I |
probably benign |
Het |
| Tigit |
C |
T |
16: 43,469,473 (GRCm39) |
G206D |
probably benign |
Het |
| Triobp |
G |
A |
15: 78,858,497 (GRCm39) |
|
probably benign |
Het |
| Trmo |
T |
C |
4: 46,380,217 (GRCm39) |
Y384C |
probably damaging |
Het |
| Vmn1r89 |
T |
A |
7: 12,953,465 (GRCm39) |
I67N |
probably damaging |
Het |
| Wdr17 |
C |
A |
8: 55,140,771 (GRCm39) |
E194* |
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 |
|
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 |
2015-04-16 |
Incidental Mutation