Incidental Mutation 'IGL02952:Emilin2'
| ID |
364965 |
| 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 # |
IGL02952
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71559167-71618551 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 71587816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 99
(V99F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024849]
|
| AlphaFold |
Q8K482 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024849
AA Change: V99F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: V99F
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,654,984 (GRCm39) |
D1436V |
probably damaging |
Het |
| Abca7 |
G |
T |
10: 79,843,242 (GRCm39) |
R1239L |
probably damaging |
Het |
| Acp2 |
T |
C |
2: 91,038,788 (GRCm39) |
|
probably benign |
Het |
| Adamts4 |
A |
G |
1: 171,078,917 (GRCm39) |
N179S |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,581,755 (GRCm39) |
D4763G |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,882,844 (GRCm39) |
V633A |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,461,338 (GRCm39) |
I342K |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,872,896 (GRCm39) |
S541P |
probably damaging |
Het |
| Ccnf |
A |
G |
17: 24,450,299 (GRCm39) |
L462P |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,408,290 (GRCm39) |
Y546C |
probably damaging |
Het |
| Cep120 |
G |
T |
18: 53,816,300 (GRCm39) |
|
probably benign |
Het |
| Cetn2 |
T |
C |
X: 71,957,808 (GRCm39) |
|
probably null |
Het |
| Cyp1a1 |
C |
T |
9: 57,609,993 (GRCm39) |
S469L |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,979,094 (GRCm39) |
T1766I |
probably benign |
Het |
| Doc2g |
G |
A |
19: 4,056,719 (GRCm39) |
G345D |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,760,902 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
A |
9: 86,414,975 (GRCm39) |
|
probably benign |
Het |
| Exoc8 |
A |
G |
8: 125,624,275 (GRCm39) |
S31P |
probably benign |
Het |
| Gask1b |
T |
C |
3: 79,793,646 (GRCm39) |
L38P |
probably damaging |
Het |
| Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
| Gm9742 |
T |
A |
13: 8,079,930 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr160 |
T |
C |
3: 30,950,443 (GRCm39) |
Y172H |
probably benign |
Het |
| Ifnk |
T |
A |
4: 35,152,495 (GRCm39) |
L141Q |
probably damaging |
Het |
| Klhl36 |
A |
G |
8: 120,597,223 (GRCm39) |
E308G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,396,715 (GRCm39) |
I450M |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,981,773 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or10ad1 |
T |
C |
15: 98,105,470 (GRCm39) |
Y265C |
probably damaging |
Het |
| Pkd2 |
A |
T |
5: 104,628,026 (GRCm39) |
T367S |
possibly damaging |
Het |
| Polg2 |
T |
C |
11: 106,663,539 (GRCm39) |
I385V |
possibly damaging |
Het |
| Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,993,014 (GRCm39) |
S17P |
unknown |
Het |
| Prss22 |
C |
A |
17: 24,215,697 (GRCm39) |
C75F |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,141,253 (GRCm39) |
K567E |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,036,925 (GRCm39) |
I1141M |
probably damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,433 (GRCm39) |
K477E |
probably damaging |
Het |
| Riok1 |
A |
G |
13: 38,232,866 (GRCm39) |
Y194C |
probably damaging |
Het |
| Smr2 |
T |
A |
5: 88,236,095 (GRCm39) |
C16S |
possibly damaging |
Het |
| Stk25 |
A |
T |
1: 93,553,798 (GRCm39) |
I187N |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,636,478 (GRCm39) |
E243G |
probably damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,186,256 (GRCm39) |
E143G |
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 |
|
|
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 |
|
|
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 |
Incidental Mutation