Incidental Mutation 'R4348:Emilin2'
| ID |
328421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emilin2
|
| Ensembl Gene |
ENSMUSG00000024053 |
| Gene Name |
elastin microfibril interfacer 2 |
| Synonyms |
basilin, FOAP-10 |
| MMRRC Submission |
041103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R4348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71559167-71618551 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71587726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 129
(M129V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024849]
|
| AlphaFold |
Q8K482 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024849
AA Change: M129V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: M129V
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,113,738 (GRCm39) |
F235L |
probably benign |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Cngb3 |
G |
A |
4: 19,396,688 (GRCm39) |
R347Q |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,480,554 (GRCm39) |
C334S |
probably damaging |
Het |
| D7Ertd443e |
ACCTAGGAGGTCCT |
ACCT |
7: 133,950,682 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,536,498 (GRCm39) |
M2138K |
possibly damaging |
Het |
| Ebf2 |
T |
C |
14: 67,476,871 (GRCm39) |
I138T |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,012,736 (GRCm39) |
S784P |
probably damaging |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,556 (GRCm39) |
V422A |
probably damaging |
Het |
| Garem2 |
G |
A |
5: 30,310,366 (GRCm39) |
R26H |
possibly damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Kcns3 |
T |
C |
12: 11,141,382 (GRCm39) |
N439S |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mbd1 |
G |
T |
18: 74,407,487 (GRCm39) |
R199L |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,146,339 (GRCm39) |
M183K |
probably benign |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,026,073 (GRCm39) |
K464E |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,450,649 (GRCm39) |
T127I |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,060 (GRCm39) |
I509T |
probably damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,830,646 (GRCm39) |
A475T |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,561,124 (GRCm39) |
V136A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,717,592 (GRCm39) |
S1879R |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,818,975 (GRCm39) |
Q388L |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Smco3 |
T |
A |
6: 136,808,692 (GRCm39) |
T61S |
possibly damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,138,245 (GRCm39) |
V364A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,595,109 (GRCm39) |
I20347T |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,829,466 (GRCm39) |
F477Y |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,730,165 (GRCm39) |
H423R |
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 |
|
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'- CTTGCAAGGAAATATGTGCGACC -3'
(R):5'- TGGAGACTCTCTTAAAACTAGTGG -3'
Sequencing Primer
(F):5'- TTCAGATAACAATCCCTCTACATGAG -3'
(R):5'- TCTTAAAACTAGTGGTCACTAAAGTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation