Incidental Mutation 'R1301:Emilin2'
ID |
158390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emilin2
|
Ensembl Gene |
ENSMUSG00000024053 |
Gene Name |
elastin microfibril interfacer 2 |
Synonyms |
basilin, FOAP-10 |
MMRRC Submission |
039367-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R1301 (G1)
|
Quality Score |
123 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
71559167-71618551 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 71562960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024849
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024849]
|
AlphaFold |
Q8K482 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024849
|
SMART Domains |
Protein: ENSMUSP00000024849 Gene: ENSMUSG00000024053
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: 98.7%
- 3x: 97.5%
- 10x: 93.3%
- 20x: 82.6%
|
Validation Efficiency |
96% (67/70) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
A |
4: 144,291,635 (GRCm39) |
I24L |
probably benign |
Het |
Ano1 |
A |
G |
7: 144,187,426 (GRCm39) |
W447R |
possibly damaging |
Het |
Blm |
T |
A |
7: 80,105,165 (GRCm39) |
K103* |
probably null |
Het |
Camta2 |
A |
G |
11: 70,567,230 (GRCm39) |
I675T |
probably benign |
Het |
Catsperz |
G |
A |
19: 6,902,450 (GRCm39) |
R15C |
probably damaging |
Het |
Chd1l |
T |
C |
3: 97,510,964 (GRCm39) |
|
probably benign |
Het |
Corin |
C |
A |
5: 72,462,276 (GRCm39) |
E844D |
possibly damaging |
Het |
Cyb5rl |
T |
G |
4: 106,938,104 (GRCm39) |
M127R |
probably damaging |
Het |
Dcdc2a |
A |
T |
13: 25,286,569 (GRCm39) |
N164I |
possibly damaging |
Het |
Dnah6 |
A |
G |
6: 73,185,528 (GRCm39) |
|
probably null |
Het |
Epb41l2 |
T |
A |
10: 25,319,800 (GRCm39) |
V211D |
probably damaging |
Het |
Fbxo47 |
C |
T |
11: 97,759,427 (GRCm39) |
M166I |
probably benign |
Het |
Golm1 |
T |
C |
13: 59,786,187 (GRCm39) |
D335G |
probably damaging |
Het |
Gpn1 |
T |
A |
5: 31,660,773 (GRCm39) |
M188K |
probably damaging |
Het |
Gpr84 |
T |
A |
15: 103,217,646 (GRCm39) |
S144C |
probably damaging |
Het |
Grm8 |
G |
T |
6: 27,981,200 (GRCm39) |
Q237K |
possibly damaging |
Het |
Gsdmd |
C |
A |
15: 75,738,908 (GRCm39) |
|
probably null |
Het |
Hmgcr |
G |
A |
13: 96,795,528 (GRCm39) |
T347I |
probably damaging |
Het |
Hsd17b7 |
T |
A |
1: 169,788,774 (GRCm39) |
|
probably benign |
Het |
Hsd3b9 |
G |
A |
3: 98,354,182 (GRCm39) |
Q106* |
probably null |
Het |
Klhl7 |
T |
G |
5: 24,364,489 (GRCm39) |
W508G |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,258,948 (GRCm39) |
D4581Y |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,840,968 (GRCm39) |
N1357D |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,380,451 (GRCm39) |
|
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,577,692 (GRCm39) |
T329A |
probably damaging |
Het |
Mroh9 |
C |
T |
1: 162,871,552 (GRCm39) |
|
probably null |
Het |
Mta2 |
A |
G |
19: 8,926,550 (GRCm39) |
|
probably benign |
Het |
Myo3a |
A |
T |
2: 22,271,906 (GRCm39) |
|
probably benign |
Het |
Nrip2 |
A |
G |
6: 128,384,352 (GRCm39) |
D153G |
probably benign |
Het |
Nup133 |
T |
C |
8: 124,644,156 (GRCm39) |
|
probably benign |
Het |
Nup210 |
C |
T |
6: 91,019,329 (GRCm39) |
V259M |
possibly damaging |
Het |
Or10ak14 |
C |
T |
4: 118,610,816 (GRCm39) |
M308I |
probably benign |
Het |
Or5b112 |
A |
T |
19: 13,319,211 (GRCm39) |
I30F |
probably benign |
Het |
Or9i14 |
A |
T |
19: 13,792,726 (GRCm39) |
V76D |
probably damaging |
Het |
Otog |
C |
T |
7: 45,939,113 (GRCm39) |
R2048C |
probably damaging |
Het |
Pacc1 |
T |
C |
1: 191,080,632 (GRCm39) |
V284A |
probably damaging |
Het |
Paqr7 |
T |
C |
4: 134,235,124 (GRCm39) |
L327P |
probably damaging |
Het |
Parl |
A |
G |
16: 20,105,676 (GRCm39) |
S249P |
probably damaging |
Het |
Phc1 |
A |
G |
6: 122,302,833 (GRCm39) |
I230T |
probably benign |
Het |
Pitpnm1 |
T |
G |
19: 4,160,831 (GRCm39) |
|
probably null |
Het |
Plpp1 |
A |
G |
13: 112,971,477 (GRCm39) |
Y48C |
probably damaging |
Het |
Pxdc1 |
A |
G |
13: 34,812,870 (GRCm39) |
F194L |
probably benign |
Het |
Rp1 |
A |
T |
1: 4,416,159 (GRCm39) |
V1651D |
possibly damaging |
Het |
Serpinb1c |
T |
A |
13: 33,080,943 (GRCm39) |
R47* |
probably null |
Het |
Sis |
T |
C |
3: 72,853,915 (GRCm39) |
T521A |
possibly damaging |
Het |
Slc16a9 |
A |
G |
10: 70,118,308 (GRCm39) |
D209G |
probably benign |
Het |
Slc26a4 |
A |
T |
12: 31,575,567 (GRCm39) |
C706* |
probably null |
Het |
Slc37a2 |
A |
G |
9: 37,148,177 (GRCm39) |
V325A |
probably benign |
Het |
Speg |
T |
A |
1: 75,378,145 (GRCm39) |
D784E |
probably damaging |
Het |
Sycp1 |
T |
C |
3: 102,827,938 (GRCm39) |
I270V |
probably benign |
Het |
Tatdn2 |
T |
A |
6: 113,681,076 (GRCm39) |
F309I |
probably damaging |
Het |
Tmem67 |
T |
C |
4: 12,089,400 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
T |
A |
7: 63,852,801 (GRCm39) |
|
probably null |
Het |
Wrn |
T |
C |
8: 33,782,714 (GRCm39) |
R496G |
probably damaging |
Het |
Zfhx2 |
A |
G |
14: 55,300,854 (GRCm39) |
V2299A |
probably benign |
Het |
Zfp819 |
T |
A |
7: 43,266,524 (GRCm39) |
S260T |
possibly 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 |
|
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 |
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'- CCCCTTGGGAAACATGAACAGAGAC -3'
(R):5'- ATGTGGGTATCAGGAGCACAAAACC -3'
Sequencing Primer
(F):5'- ACATGAACAGAGACCATGTAGG -3'
(R):5'- AGCACAAAACCCAGGGAAG -3'
|
Posted On |
2014-02-18 |