Incidental Mutation 'R9625:Emilin2'
| ID |
725117 |
| 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 # |
R9625 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71559167-71618551 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71581112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 538
(V538A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024849]
|
| AlphaFold |
Q8K482 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024849
AA Change: V538A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000024849
Gene: ENSMUSG00000024053
AA Change: V538A
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
G |
3: 121,465,033 (GRCm39) |
E23G |
unknown |
Het |
| Abhd5 |
A |
G |
9: 122,208,606 (GRCm39) |
Y332C |
probably damaging |
Het |
| Adcyap1r1 |
A |
T |
6: 55,457,055 (GRCm39) |
E262V |
probably damaging |
Het |
| Adgre5 |
A |
G |
8: 84,450,658 (GRCm39) |
Y793H |
probably damaging |
Het |
| Arhgef33 |
A |
T |
17: 80,654,707 (GRCm39) |
Y78F |
possibly damaging |
Het |
| Asl |
G |
A |
5: 130,047,693 (GRCm39) |
A91V |
probably damaging |
Het |
| Cd40 |
A |
T |
2: 164,905,061 (GRCm39) |
I126F |
probably benign |
Het |
| Ceacam10 |
A |
G |
7: 24,476,705 (GRCm39) |
E2G |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,230,805 (GRCm39) |
R941H |
|
Het |
| Cntnap3 |
A |
T |
13: 65,006,579 (GRCm39) |
S78T |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,602,181 (GRCm39) |
V1195A |
possibly damaging |
Het |
| Cthrc1 |
T |
C |
15: 38,947,874 (GRCm39) |
S198P |
probably damaging |
Het |
| Dcaf7 |
T |
G |
11: 105,942,794 (GRCm39) |
|
probably null |
Het |
| Dhx16 |
A |
G |
17: 36,193,413 (GRCm39) |
E252G |
probably benign |
Het |
| Efcab2 |
C |
T |
1: 178,302,505 (GRCm39) |
T83I |
possibly damaging |
Het |
| Efhc1 |
A |
G |
1: 21,049,738 (GRCm39) |
N533D |
probably benign |
Het |
| Fam171b |
A |
T |
2: 83,683,914 (GRCm39) |
T144S |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,845,474 (GRCm39) |
F424S |
unknown |
Het |
| Gm3573 |
T |
C |
14: 42,011,605 (GRCm39) |
R42G |
possibly damaging |
Het |
| Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
G |
A |
17: 34,218,975 (GRCm39) |
P23S |
probably benign |
Het |
| Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
| Hoxb1 |
C |
T |
11: 96,256,810 (GRCm39) |
A53V |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,849,197 (GRCm39) |
|
probably null |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Kif1a |
C |
T |
1: 93,000,766 (GRCm39) |
E287K |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,909,666 (GRCm39) |
*2015K |
probably null |
Het |
| Ltbp1 |
G |
T |
17: 75,486,157 (GRCm39) |
G61C |
probably damaging |
Het |
| Mthfd2l |
A |
G |
5: 91,107,567 (GRCm39) |
H143R |
probably damaging |
Het |
| Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,345,643 (GRCm39) |
Q568L |
probably damaging |
Het |
| Ncoa3 |
G |
A |
2: 165,899,130 (GRCm39) |
S824N |
probably benign |
Het |
| Nfe2l3 |
A |
T |
6: 51,434,925 (GRCm39) |
D495V |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,782,169 (GRCm39) |
I455M |
probably benign |
Het |
| Npb |
T |
C |
11: 120,499,375 (GRCm39) |
L14P |
probably damaging |
Het |
| Or51f1 |
C |
T |
7: 102,505,636 (GRCm39) |
M284I |
probably benign |
Het |
| P2ry12 |
G |
A |
3: 59,125,496 (GRCm39) |
R60C |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,419 (GRCm39) |
L403* |
probably null |
Het |
| Phb2 |
G |
A |
6: 124,690,974 (GRCm39) |
R44H |
probably damaging |
Het |
| Plekha5 |
A |
T |
6: 140,372,253 (GRCm39) |
T68S |
probably benign |
Het |
| Ptprg |
C |
T |
14: 12,152,027 (GRCm38) |
R447W |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,462,006 (GRCm39) |
Y1190H |
probably damaging |
Het |
| Ptpro |
G |
T |
6: 137,371,873 (GRCm39) |
C630F |
probably damaging |
Het |
| Rrp15 |
G |
T |
1: 186,453,718 (GRCm39) |
P243Q |
possibly damaging |
Het |
| Smurf1 |
A |
G |
5: 144,830,920 (GRCm39) |
F285S |
possibly damaging |
Het |
| Spata13 |
C |
T |
14: 60,944,349 (GRCm39) |
P581S |
probably benign |
Het |
| Tex44 |
T |
C |
1: 86,354,253 (GRCm39) |
I54T |
unknown |
Het |
| Tom1l2 |
A |
G |
11: 60,161,277 (GRCm39) |
V78A |
probably damaging |
Het |
| Vps11 |
A |
G |
9: 44,265,738 (GRCm39) |
W514R |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,254,445 (GRCm39) |
V357L |
probably benign |
Het |
| Zfp970 |
C |
T |
2: 177,167,790 (GRCm39) |
Q455* |
probably null |
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 |
|
|
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'- TGACGTCCTCTTGGAGTTTC -3'
(R):5'- TACATTGAGGAGACCCTGCG -3'
Sequencing Primer
(F):5'- GTGACTCGTTTCTTGGAACTGCC -3'
(R):5'- GGAATTGTTCTGCAAGCG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation