Incidental Mutation 'R4695:Emilin2'
| ID |
355662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emilin2
|
| Ensembl Gene |
ENSMUSG00000024053 |
| Gene Name |
elastin microfibril interfacer 2 |
| Synonyms |
basilin, FOAP-10 |
| MMRRC Submission |
042016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R4695 (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 71559773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1068
(Y1068C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024849]
[ENSMUST00000126681]
[ENSMUST00000129635]
|
| AlphaFold |
Q8K482 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024849
AA Change: Y1068C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: Y1068C
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
T |
A |
17: 33,750,713 (GRCm39) |
M251K |
possibly damaging |
Het |
| Adcy2 |
A |
T |
13: 68,875,962 (GRCm39) |
H513Q |
possibly damaging |
Het |
| Afg2a |
T |
G |
3: 37,512,474 (GRCm39) |
F713C |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,580,619 (GRCm39) |
L1861P |
possibly damaging |
Het |
| Apc2 |
C |
A |
10: 80,146,877 (GRCm39) |
R615S |
probably damaging |
Het |
| Arhgap45 |
A |
C |
10: 79,861,364 (GRCm39) |
D509A |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,351,208 (GRCm39) |
T108A |
probably benign |
Het |
| Blm |
T |
A |
7: 80,143,976 (GRCm39) |
D821V |
probably damaging |
Het |
| C3 |
T |
A |
17: 57,528,057 (GRCm39) |
I721L |
probably benign |
Het |
| Ccdc13 |
A |
T |
9: 121,649,826 (GRCm39) |
V207E |
probably damaging |
Het |
| Ccndbp1 |
C |
T |
2: 120,845,208 (GRCm39) |
|
probably benign |
Het |
| Cd180 |
A |
C |
13: 102,842,268 (GRCm39) |
Q438P |
probably benign |
Het |
| Cd248 |
C |
T |
19: 5,118,473 (GRCm39) |
T107M |
probably damaging |
Het |
| Cdan1 |
G |
A |
2: 120,558,864 (GRCm39) |
R445C |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,973,013 (GRCm39) |
H915N |
possibly damaging |
Het |
| Cox8c |
T |
C |
12: 102,865,742 (GRCm39) |
S40P |
possibly damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,092 (GRCm39) |
C347S |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,914,356 (GRCm39) |
F974I |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,972,221 (GRCm39) |
T1414S |
probably benign |
Het |
| Dlg2 |
C |
A |
7: 92,087,170 (GRCm39) |
|
probably null |
Het |
| Dynlt5 |
T |
A |
4: 102,861,426 (GRCm39) |
I136K |
probably damaging |
Het |
| Dzip1l |
T |
A |
9: 99,529,258 (GRCm39) |
M329K |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,771,924 (GRCm39) |
L582I |
probably damaging |
Het |
| Fam221b |
T |
A |
4: 43,659,622 (GRCm39) |
|
probably null |
Het |
| Fbxw22 |
A |
G |
9: 109,207,939 (GRCm39) |
I444T |
probably damaging |
Het |
| Flnc |
T |
A |
6: 29,440,428 (GRCm39) |
N245K |
probably damaging |
Het |
| Fnip1 |
T |
A |
11: 54,390,245 (GRCm39) |
I380N |
probably damaging |
Het |
| Gbf1 |
C |
T |
19: 46,247,606 (GRCm39) |
R181* |
probably null |
Het |
| Igkv6-17 |
T |
A |
6: 70,348,486 (GRCm39) |
F12I |
probably benign |
Het |
| Itln1 |
C |
A |
1: 171,358,645 (GRCm39) |
G174V |
probably damaging |
Het |
| Lrrc52 |
A |
G |
1: 167,293,660 (GRCm39) |
|
probably null |
Het |
| LTO1 |
T |
C |
7: 144,482,715 (GRCm39) |
|
probably null |
Het |
| Matn2 |
A |
G |
15: 34,403,071 (GRCm39) |
Y432C |
probably damaging |
Het |
| Metap1d |
A |
G |
2: 71,355,305 (GRCm39) |
*336W |
probably null |
Het |
| Mgam2-ps |
T |
A |
6: 40,779,489 (GRCm39) |
|
noncoding transcript |
Het |
| Mrps9 |
T |
A |
1: 42,901,675 (GRCm39) |
V61D |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,456,097 (GRCm39) |
Y161H |
probably damaging |
Het |
| Myh9 |
T |
A |
15: 77,653,053 (GRCm39) |
D1428V |
probably damaging |
Het |
| N4bp3 |
A |
T |
11: 51,535,306 (GRCm39) |
|
probably null |
Het |
| Nat9 |
T |
A |
11: 115,075,416 (GRCm39) |
Q75L |
probably benign |
Het |
| Nop2 |
T |
C |
6: 125,121,519 (GRCm39) |
V767A |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,274,307 (GRCm39) |
K728E |
probably damaging |
Het |
| Or51e1 |
T |
G |
7: 102,358,764 (GRCm39) |
C99W |
probably damaging |
Het |
| Or5p72 |
G |
A |
7: 108,022,196 (GRCm39) |
M139I |
probably benign |
Het |
| Or7g21 |
T |
A |
9: 19,032,306 (GRCm39) |
H15Q |
probably null |
Het |
| Pcdhgb2 |
A |
G |
18: 37,825,375 (GRCm39) |
T789A |
probably benign |
Het |
| Pcyt2 |
T |
C |
11: 120,502,000 (GRCm39) |
D321G |
probably benign |
Het |
| Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
| Rbbp8 |
A |
T |
18: 11,854,839 (GRCm39) |
K355* |
probably null |
Het |
| Rhag |
T |
C |
17: 41,147,358 (GRCm39) |
Y407H |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,314,495 (GRCm39) |
V161M |
probably damaging |
Het |
| Rpl27-ps3 |
C |
A |
18: 6,332,922 (GRCm39) |
N97K |
probably benign |
Het |
| Slc45a4 |
A |
G |
15: 73,453,924 (GRCm39) |
I691T |
possibly damaging |
Het |
| Slc9a9 |
A |
T |
9: 94,818,502 (GRCm39) |
|
probably benign |
Het |
| Stard13 |
A |
G |
5: 150,984,280 (GRCm39) |
F619L |
probably benign |
Het |
| Stt3b |
A |
T |
9: 115,083,862 (GRCm39) |
V438E |
probably damaging |
Het |
| Tacr3 |
C |
T |
3: 134,535,182 (GRCm39) |
T50I |
probably benign |
Het |
| Tacr3 |
G |
T |
3: 134,635,690 (GRCm39) |
C298F |
probably damaging |
Het |
| Taok3 |
C |
T |
5: 117,366,131 (GRCm39) |
T394M |
probably benign |
Het |
| Tgfb1i1 |
A |
G |
7: 127,848,348 (GRCm39) |
D128G |
probably damaging |
Het |
| Tgfbr3l |
G |
T |
8: 4,300,574 (GRCm39) |
V251L |
probably benign |
Het |
| Tom1l2 |
C |
G |
11: 60,161,259 (GRCm39) |
R84P |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,633,238 (GRCm39) |
S953P |
probably benign |
Het |
| Trappc10 |
T |
C |
10: 78,033,697 (GRCm39) |
K957E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,565,668 (GRCm39) |
E28228V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vdr |
A |
T |
15: 97,756,801 (GRCm39) |
|
probably null |
Het |
| Zfp42 |
A |
T |
8: 43,749,168 (GRCm39) |
L111Q |
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 |
|
|
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'- AGGGGACATAACGAGTCTTCTG -3'
(R):5'- TCCTGGAATACCATCGTCCC -3'
Sequencing Primer
(F):5'- TCCAGTGACAGAAGTAACCATGTGTC -3'
(R):5'- GAATACCATCGTCCCCCTGG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation