Incidental Mutation 'R2380:Emilin2'
ID |
248447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emilin2
|
Ensembl Gene |
ENSMUSG00000024053 |
Gene Name |
elastin microfibril interfacer 2 |
Synonyms |
basilin, FOAP-10 |
MMRRC Submission |
040356-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R2380 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
71559167-71618551 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71617219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 64
(Q64L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024849
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024849]
|
AlphaFold |
Q8K482 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024849
AA Change: Q64L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000024849 Gene: ENSMUSG00000024053 AA Change: Q64L
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (44/44) |
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 |
4930407I10Rik |
T |
C |
15: 81,949,036 (GRCm39) |
S978P |
possibly damaging |
Het |
Ago3 |
G |
A |
4: 126,262,315 (GRCm39) |
R412C |
probably damaging |
Het |
Ampd3 |
C |
T |
7: 110,399,917 (GRCm39) |
T344M |
probably damaging |
Het |
Arl10 |
G |
T |
13: 54,722,962 (GRCm39) |
V19L |
probably benign |
Het |
Aspm |
C |
T |
1: 139,407,086 (GRCm39) |
A1991V |
probably damaging |
Het |
Axdnd1 |
A |
T |
1: 156,193,221 (GRCm39) |
D655E |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,196,878 (GRCm39) |
H1169R |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,023,586 (GRCm39) |
F942L |
probably damaging |
Het |
Camk2g |
A |
G |
14: 20,789,455 (GRCm39) |
I205T |
probably damaging |
Het |
Cdh5 |
C |
A |
8: 104,852,304 (GRCm39) |
H140N |
possibly damaging |
Het |
Cog8 |
C |
A |
8: 107,782,993 (GRCm39) |
G99W |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,240,101 (GRCm39) |
C1104R |
probably damaging |
Het |
Dhrs7c |
G |
A |
11: 67,706,690 (GRCm39) |
V283M |
probably benign |
Het |
Enpp3 |
T |
C |
10: 24,652,770 (GRCm39) |
E729G |
probably benign |
Het |
Fam169a |
T |
A |
13: 97,255,043 (GRCm39) |
|
probably benign |
Het |
Gvin-ps3 |
T |
C |
7: 105,681,374 (GRCm39) |
E627G |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,441,135 (GRCm39) |
M5374L |
probably benign |
Het |
Hsd17b1 |
A |
T |
11: 100,969,289 (GRCm39) |
I8F |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,036,395 (GRCm39) |
E1111G |
probably benign |
Het |
Kcmf1 |
A |
G |
6: 72,835,755 (GRCm39) |
|
probably null |
Het |
Kdm1b |
T |
A |
13: 47,227,231 (GRCm39) |
F574L |
probably damaging |
Het |
Lgr4 |
T |
C |
2: 109,842,738 (GRCm39) |
Y908H |
probably damaging |
Het |
Lig1 |
T |
C |
7: 13,037,722 (GRCm39) |
|
probably benign |
Het |
Ltbp3 |
C |
A |
19: 5,801,551 (GRCm39) |
C698* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,113,144 (GRCm39) |
V1216A |
possibly damaging |
Het |
Or52e3 |
A |
T |
7: 102,869,815 (GRCm39) |
T297S |
possibly damaging |
Het |
Or5b109 |
T |
C |
19: 13,212,085 (GRCm39) |
V157A |
probably benign |
Het |
Or5l13 |
T |
C |
2: 87,779,741 (GRCm39) |
T279A |
probably damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Ppp5c |
A |
G |
7: 16,740,040 (GRCm39) |
Y434H |
probably damaging |
Het |
Pwwp2b |
A |
G |
7: 138,835,366 (GRCm39) |
E269G |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,544,124 (GRCm39) |
T299S |
probably benign |
Het |
Skint5 |
G |
A |
4: 113,403,733 (GRCm39) |
T1163I |
unknown |
Het |
Slc35f4 |
A |
G |
14: 49,543,660 (GRCm39) |
|
probably null |
Het |
Smr2l |
T |
G |
5: 88,430,413 (GRCm39) |
M103R |
probably benign |
Het |
Trmt5 |
A |
G |
12: 73,331,888 (GRCm39) |
I4T |
probably benign |
Het |
Ttc7b |
A |
G |
12: 100,321,260 (GRCm39) |
|
probably null |
Het |
Utp6 |
A |
G |
11: 79,826,831 (GRCm39) |
S582P |
possibly damaging |
Het |
Zbtb41 |
T |
C |
1: 139,351,552 (GRCm39) |
S222P |
probably damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGCCCAGAGTAGCTGTGAG -3'
(R):5'- GTTCCAAAGACGCAAGAGAC -3'
Sequencing Primer
(F):5'- AGCCGTGCAGATATCAGACTTTG -3'
(R):5'- GACGCAAGAGACACCCTGG -3'
|
Posted On |
2014-11-11 |