Incidental Mutation 'R9743:Emilin2'
ID |
731951 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emilin2
|
Ensembl Gene |
ENSMUSG00000024053 |
Gene Name |
elastin microfibril interfacer 2 |
Synonyms |
basilin, FOAP-10 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R9743 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
71559167-71618551 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71580867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 620
(T620A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024849
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024849]
|
AlphaFold |
Q8K482 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024849
AA Change: T620A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000024849 Gene: ENSMUSG00000024053 AA Change: T620A
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
A |
G |
2: 31,687,716 (GRCm39) |
H571R |
probably benign |
Het |
Adamts13 |
T |
C |
2: 26,886,812 (GRCm39) |
V983A |
probably benign |
Het |
Adamts13 |
G |
A |
2: 26,895,491 (GRCm39) |
|
probably null |
Het |
AI661453 |
T |
A |
17: 47,780,240 (GRCm39) |
N1181K |
unknown |
Het |
Ank2 |
A |
T |
3: 126,733,794 (GRCm39) |
N605K |
possibly damaging |
Het |
Armc2 |
T |
G |
10: 41,798,598 (GRCm39) |
K737T |
probably benign |
Het |
Aspn |
A |
G |
13: 49,705,150 (GRCm39) |
Y4C |
probably benign |
Het |
B3galt2 |
T |
C |
1: 143,522,847 (GRCm39) |
F328L |
probably benign |
Het |
Brd10 |
A |
C |
19: 29,694,261 (GRCm39) |
I1744S |
probably benign |
Het |
Ccl3 |
T |
C |
11: 83,539,428 (GRCm39) |
E52G |
probably damaging |
Het |
Col5a1 |
C |
T |
2: 27,864,505 (GRCm39) |
A728V |
unknown |
Het |
Cyp1b1 |
T |
A |
17: 80,017,808 (GRCm39) |
D449V |
probably benign |
Het |
D130043K22Rik |
C |
T |
13: 25,056,299 (GRCm39) |
P544S |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,861,850 (GRCm39) |
W28R |
|
Het |
Ercc6 |
T |
G |
14: 32,298,943 (GRCm39) |
S1444A |
probably benign |
Het |
Fam149b |
A |
G |
14: 20,413,411 (GRCm39) |
H264R |
probably benign |
Het |
Fbxo7 |
T |
C |
10: 85,883,773 (GRCm39) |
V458A |
probably benign |
Het |
Gria4 |
T |
G |
9: 4,464,457 (GRCm39) |
T502P |
probably damaging |
Het |
Hfm1 |
T |
C |
5: 107,022,125 (GRCm39) |
T974A |
possibly damaging |
Het |
Ifna16 |
T |
C |
4: 88,594,930 (GRCm39) |
D55G |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,809,323 (GRCm39) |
V331A |
possibly damaging |
Het |
Mkks |
T |
C |
2: 136,722,992 (GRCm39) |
Y55C |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,601,194 (GRCm39) |
F1291L |
|
Het |
Myo18a |
A |
G |
11: 77,723,304 (GRCm39) |
N1183S |
probably benign |
Het |
Olfm2 |
T |
C |
9: 20,579,785 (GRCm39) |
D322G |
probably damaging |
Het |
Or2a25 |
G |
A |
6: 42,888,835 (GRCm39) |
C126Y |
probably damaging |
Het |
Or2a51 |
A |
G |
6: 43,179,229 (GRCm39) |
Y217C |
probably benign |
Het |
Or5aq7 |
A |
G |
2: 86,937,840 (GRCm39) |
V297A |
probably damaging |
Het |
Or7h8 |
A |
G |
9: 20,123,840 (GRCm39) |
N65S |
probably damaging |
Het |
Pdik1l |
A |
T |
4: 134,011,815 (GRCm39) |
D9E |
probably benign |
Het |
Pdzrn3 |
C |
A |
6: 101,354,678 (GRCm39) |
G58C |
probably damaging |
Het |
Pex13 |
A |
T |
11: 23,606,119 (GRCm39) |
L37* |
probably null |
Het |
Pigr |
G |
A |
1: 130,769,540 (GRCm39) |
R117Q |
possibly damaging |
Het |
Ptprq |
T |
A |
10: 107,520,982 (GRCm39) |
Y730F |
probably damaging |
Het |
Rnase11 |
T |
A |
14: 51,287,370 (GRCm39) |
K61N |
probably benign |
Het |
Setdb2 |
T |
C |
14: 59,651,002 (GRCm39) |
D427G |
probably benign |
Het |
Slc22a21 |
A |
G |
11: 53,842,575 (GRCm39) |
V518A |
probably benign |
Het |
Slf2 |
T |
C |
19: 44,930,572 (GRCm39) |
S550P |
probably benign |
Het |
Supt16 |
T |
C |
14: 52,408,939 (GRCm39) |
R812G |
probably damaging |
Het |
Taf4 |
C |
T |
2: 179,581,592 (GRCm39) |
V464M |
possibly damaging |
Het |
Tas1r3 |
G |
A |
4: 155,945,256 (GRCm39) |
T655I |
probably damaging |
Het |
Tg |
G |
A |
15: 66,561,839 (GRCm39) |
V1108I |
probably benign |
Het |
Tmc7 |
C |
A |
7: 118,150,452 (GRCm39) |
R360S |
probably damaging |
Het |
Tor3a |
T |
C |
1: 156,501,103 (GRCm39) |
T112A |
probably benign |
Het |
Tsr3 |
T |
C |
17: 25,460,674 (GRCm39) |
L180P |
possibly damaging |
Het |
Unc5d |
T |
C |
8: 29,209,801 (GRCm39) |
T512A |
possibly damaging |
Het |
Vmn2r103 |
T |
A |
17: 20,032,475 (GRCm39) |
Y750N |
probably damaging |
Het |
Vmn2r20 |
A |
T |
6: 123,373,369 (GRCm39) |
V491D |
probably damaging |
Het |
Vmn2r52 |
T |
C |
7: 9,904,606 (GRCm39) |
E411G |
possibly damaging |
Het |
Zfp760 |
T |
A |
17: 21,942,338 (GRCm39) |
S504R |
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 |
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 |
X0064:Emilin2
|
UTSW |
17 |
71,587,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTAGCTCAGCCAACATTTG -3'
(R):5'- AAGTGGTTGAGGACTTCTGCC -3'
Sequencing Primer
(F):5'- AACATTTGGTTCTGCAGCTTCTG -3'
(R):5'- TGAGGACTTCTGCCTGCAG -3'
|
Posted On |
2022-11-14 |