Incidental Mutation 'IGL02639:Emilin2'
| ID |
301667 |
| 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)
|
| Stock # |
IGL02639
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71559167-71618551 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71581544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 394
(D394G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024849]
|
| AlphaFold |
Q8K482 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024849
AA Change: D394G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: D394G
| 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 |
|---|
| 4930447A16Rik |
C |
T |
15: 37,430,048 (GRCm39) |
R71* |
probably null |
Het |
| Abca5 |
A |
T |
11: 110,178,899 (GRCm39) |
I1140N |
possibly damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,946,344 (GRCm39) |
I773N |
possibly damaging |
Het |
| Atp9a |
A |
G |
2: 168,491,540 (GRCm39) |
M675T |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,942,810 (GRCm39) |
|
probably benign |
Het |
| Cd5l |
T |
C |
3: 87,275,813 (GRCm39) |
V261A |
probably damaging |
Het |
| Copb1 |
A |
G |
7: 113,825,830 (GRCm39) |
|
probably benign |
Het |
| Cul5 |
T |
C |
9: 53,566,642 (GRCm39) |
D130G |
possibly damaging |
Het |
| Cyp2j5 |
T |
A |
4: 96,546,986 (GRCm39) |
Q176L |
probably benign |
Het |
| Ddo |
A |
G |
10: 40,523,733 (GRCm39) |
D241G |
probably damaging |
Het |
| Defa29 |
A |
G |
8: 21,816,137 (GRCm39) |
C77R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,584 (GRCm39) |
N566D |
probably benign |
Het |
| Eif1ad14 |
G |
T |
12: 87,886,269 (GRCm39) |
T120K |
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,043,426 (GRCm39) |
E461G |
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,532 (GRCm39) |
|
probably benign |
Het |
| Fibcd1 |
G |
A |
2: 31,707,162 (GRCm39) |
T365M |
probably damaging |
Het |
| Fndc3a |
A |
C |
14: 72,811,797 (GRCm39) |
H344Q |
probably benign |
Het |
| Fnip1 |
T |
A |
11: 54,366,466 (GRCm39) |
C52* |
probably null |
Het |
| Fto |
T |
A |
8: 92,136,156 (GRCm39) |
N143K |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,926,873 (GRCm39) |
L84F |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,265,081 (GRCm39) |
V2755I |
probably benign |
Het |
| Irgq |
C |
A |
7: 24,230,887 (GRCm39) |
A26E |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,471,964 (GRCm39) |
I1518V |
probably damaging |
Het |
| Klhl29 |
A |
T |
12: 5,187,453 (GRCm39) |
Y304N |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,843 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,369,447 (GRCm39) |
F736L |
probably benign |
Het |
| Nynrin |
G |
T |
14: 56,108,112 (GRCm39) |
W1073L |
probably damaging |
Het |
| Or10h28 |
G |
A |
17: 33,488,369 (GRCm39) |
V224M |
possibly damaging |
Het |
| Or10w1 |
A |
T |
19: 13,631,960 (GRCm39) |
T51S |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,928 (GRCm39) |
I23N |
probably damaging |
Het |
| Or14j10 |
A |
T |
17: 37,934,878 (GRCm39) |
I216N |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,371 (GRCm39) |
C261S |
probably benign |
Het |
| Or51a10 |
C |
A |
7: 103,698,988 (GRCm39) |
C191F |
probably damaging |
Het |
| Or52e8b |
T |
A |
7: 104,673,429 (GRCm39) |
I253F |
probably damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,592,329 (GRCm39) |
K105M |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pola2 |
A |
G |
19: 6,003,802 (GRCm39) |
V191A |
probably benign |
Het |
| Slc22a8 |
A |
T |
19: 8,571,323 (GRCm39) |
Y18F |
probably benign |
Het |
| Slc26a5 |
C |
T |
5: 22,024,765 (GRCm39) |
V440M |
probably 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 |
|
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 |
|
|
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