Incidental Mutation 'R5519:Emilin2'
ID |
431481 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emilin2
|
Ensembl Gene |
ENSMUSG00000024053 |
Gene Name |
elastin microfibril interfacer 2 |
Synonyms |
basilin, FOAP-10 |
MMRRC Submission |
043078-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R5519 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
71559167-71618551 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 71559930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 1016
(P1016S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024849
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024849]
[ENSMUST00000126681]
[ENSMUST00000129635]
|
AlphaFold |
Q8K482 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024849
AA Change: P1016S
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000024849 Gene: ENSMUSG00000024053 AA Change: P1016S
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 |
probably benign
Transcript: ENSMUST00000126681
|
SMART Domains |
Protein: ENSMUSP00000118610 Gene: ENSMUSG00000024052
Domain | Start | End | E-Value | Type |
Pfam:Lipin_N
|
39 |
148 |
1e-47 |
PFAM |
low complexity region
|
191 |
206 |
N/A |
INTRINSIC |
low complexity region
|
217 |
227 |
N/A |
INTRINSIC |
low complexity region
|
398 |
420 |
N/A |
INTRINSIC |
Pfam:Lipin_mid
|
504 |
596 |
6.1e-37 |
PFAM |
LNS2
|
720 |
876 |
2.18e-107 |
SMART |
low complexity region
|
924 |
930 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129635
|
SMART Domains |
Protein: ENSMUSP00000119282 Gene: ENSMUSG00000024052
Domain | Start | End | E-Value | Type |
Pfam:Lipin_N
|
1 |
114 |
2.2e-53 |
PFAM |
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
low complexity region
|
179 |
189 |
N/A |
INTRINSIC |
low complexity region
|
360 |
382 |
N/A |
INTRINSIC |
LNS2
|
682 |
838 |
2.18e-107 |
SMART |
low complexity region
|
886 |
892 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.7%
- 20x: 88.5%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067K01Rik |
T |
C |
8: 84,729,621 (GRCm39) |
V99A |
possibly damaging |
Het |
2510009E07Rik |
A |
G |
16: 21,472,218 (GRCm39) |
S91P |
probably benign |
Het |
2810021J22Rik |
G |
A |
11: 58,770,923 (GRCm39) |
S135N |
probably benign |
Het |
A530084C06Rik |
T |
C |
13: 31,742,702 (GRCm39) |
|
probably benign |
Het |
Acadsb |
T |
C |
7: 131,031,694 (GRCm39) |
S177P |
probably damaging |
Het |
Acp3 |
C |
A |
9: 104,168,687 (GRCm39) |
G393W |
probably damaging |
Het |
Axl |
G |
A |
7: 25,478,087 (GRCm39) |
A204V |
possibly damaging |
Het |
Birc6 |
A |
T |
17: 74,887,173 (GRCm39) |
M806L |
probably benign |
Het |
Cacna1i |
T |
C |
15: 80,255,700 (GRCm39) |
L861P |
probably damaging |
Het |
Cfap44 |
A |
T |
16: 44,224,451 (GRCm39) |
D53V |
probably damaging |
Het |
Col9a1 |
G |
A |
1: 24,269,335 (GRCm39) |
|
probably null |
Het |
Ctf2 |
T |
A |
7: 127,318,463 (GRCm39) |
I179L |
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Gm12790 |
G |
A |
4: 101,824,888 (GRCm39) |
P127S |
probably benign |
Het |
Gsap |
T |
A |
5: 21,494,857 (GRCm39) |
V24E |
probably damaging |
Het |
Ipp |
T |
C |
4: 116,367,964 (GRCm39) |
F66L |
possibly damaging |
Het |
Jakmip3 |
T |
C |
7: 138,609,520 (GRCm39) |
I208T |
probably damaging |
Het |
Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
Mosmo |
C |
T |
7: 120,329,733 (GRCm39) |
P118L |
probably benign |
Het |
Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Or51a42 |
G |
A |
7: 103,708,504 (GRCm39) |
Q102* |
probably null |
Het |
Padi2 |
A |
G |
4: 140,676,533 (GRCm39) |
D557G |
probably damaging |
Het |
Pde11a |
T |
A |
2: 75,906,299 (GRCm39) |
K639N |
probably damaging |
Het |
Pspc1 |
T |
C |
14: 57,009,413 (GRCm39) |
I140M |
probably benign |
Het |
Rundc3a |
A |
T |
11: 102,292,857 (GRCm39) |
I417F |
probably benign |
Het |
Scn1a |
T |
A |
2: 66,162,557 (GRCm39) |
I230F |
probably damaging |
Het |
Serpinb3b |
A |
G |
1: 107,087,506 (GRCm39) |
M1T |
probably null |
Het |
Sin3a |
T |
C |
9: 57,025,457 (GRCm39) |
|
probably null |
Het |
St8sia1 |
T |
C |
6: 142,909,287 (GRCm39) |
N70D |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tpm2 |
T |
G |
4: 43,522,751 (GRCm39) |
D55A |
possibly damaging |
Het |
Trdv1 |
T |
A |
14: 54,119,405 (GRCm39) |
M22K |
probably benign |
Het |
Zc3h4 |
A |
T |
7: 16,169,157 (GRCm39) |
T1089S |
unknown |
Het |
Zfp518b |
G |
A |
5: 38,831,441 (GRCm39) |
T188M |
probably damaging |
Het |
Zfp74 |
G |
T |
7: 29,634,559 (GRCm39) |
A383D |
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 |
|
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 |
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'- AGCTTTGGAGTTTTCACAGCC -3'
(R):5'- ATCAGCTCACCTGTGTCTGG -3'
Sequencing Primer
(F):5'- CTGGTCTCCCTAGAGGTGAGAAAG -3'
(R):5'- GCTTTTTGTAGGGATCTTCACCGC -3'
|
Posted On |
2016-10-05 |