Incidental Mutation 'IGL02231:Emilin3'
| ID |
285679 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Emilin3
|
| Ensembl Gene |
ENSMUSG00000050700 |
| Gene Name |
elastin microfibril interfacer 3 |
| Synonyms |
1110013O17Rik, EMILIN-T, Emilin5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02231
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
160748357-160754248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 160750435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 438
(T438I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040872]
[ENSMUST00000057169]
[ENSMUST00000109454]
[ENSMUST00000109455]
[ENSMUST00000109456]
[ENSMUST00000109457]
|
| AlphaFold |
P59900 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040872
|
| SMART Domains |
Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
5.8e-52 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
569 |
N/A |
INTRINSIC |
|
LNS2
|
637 |
793 |
1.4e-105 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057169
AA Change: T438I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: T438I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
55 |
125 |
7.3e-18 |
PFAM |
|
low complexity region
|
144 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109454
AA Change: T391I
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: T391I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
54 |
127 |
6.4e-22 |
PFAM |
|
low complexity region
|
144 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109455
|
| SMART Domains |
Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
2.4e-52 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
538 |
N/A |
INTRINSIC |
|
LNS2
|
606 |
762 |
1.4e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109456
|
| SMART Domains |
Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
5.8e-52 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
569 |
N/A |
INTRINSIC |
|
LNS2
|
637 |
793 |
1.4e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109457
|
| SMART Domains |
Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
110 |
4.1e-48 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
Pfam:Lipin_mid
|
435 |
538 |
9.5e-35 |
PFAM |
|
low complexity region
|
569 |
579 |
N/A |
INTRINSIC |
|
LNS2
|
647 |
803 |
1.4e-105 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124920
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alcam |
T |
A |
16: 52,094,413 (GRCm39) |
|
probably benign |
Het |
| Alox15 |
A |
C |
11: 70,240,382 (GRCm39) |
D266E |
probably benign |
Het |
| Atcay |
A |
T |
10: 81,046,382 (GRCm39) |
V314E |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,683,455 (GRCm39) |
G758R |
possibly damaging |
Het |
| Bltp2 |
G |
A |
11: 78,170,722 (GRCm39) |
G1647D |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,254,869 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,719,709 (GRCm39) |
V2429A |
probably damaging |
Het |
| Clspn |
T |
G |
4: 126,453,021 (GRCm39) |
D11E |
probably damaging |
Het |
| Cnot3 |
A |
G |
7: 3,661,209 (GRCm39) |
T573A |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,502,807 (GRCm39) |
S140T |
probably benign |
Het |
| Edem1 |
A |
G |
6: 108,805,849 (GRCm39) |
D50G |
probably benign |
Het |
| Etfdh |
C |
T |
3: 79,525,700 (GRCm39) |
V173I |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,171,918 (GRCm39) |
T2932A |
probably damaging |
Het |
| Fcrl1 |
G |
A |
3: 87,292,469 (GRCm39) |
E154K |
possibly damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,292,470 (GRCm39) |
E154V |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,386,273 (GRCm39) |
L244* |
probably null |
Het |
| Itgae |
A |
T |
11: 72,981,448 (GRCm39) |
K2M |
possibly damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,723,508 (GRCm39) |
I654V |
probably benign |
Het |
| Ksr2 |
C |
T |
5: 117,638,841 (GRCm39) |
R82C |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,833,041 (GRCm39) |
D305V |
probably damaging |
Het |
| Me1 |
T |
C |
9: 86,493,908 (GRCm39) |
K322E |
possibly damaging |
Het |
| Med12l |
T |
A |
3: 59,153,303 (GRCm39) |
D1109E |
probably damaging |
Het |
| Mest |
A |
G |
6: 30,740,772 (GRCm39) |
K73E |
possibly damaging |
Het |
| Nup155 |
T |
G |
15: 8,173,548 (GRCm39) |
L881R |
probably damaging |
Het |
| Ocln |
A |
T |
13: 100,677,622 (GRCm39) |
S2T |
probably damaging |
Het |
| Oosp3 |
T |
C |
19: 11,676,803 (GRCm39) |
L54S |
probably damaging |
Het |
| Pkp3 |
G |
A |
7: 140,664,151 (GRCm39) |
E443K |
probably damaging |
Het |
| Plk2 |
T |
A |
13: 110,536,603 (GRCm39) |
C632S |
probably benign |
Het |
| Ptk6 |
C |
T |
2: 180,838,794 (GRCm39) |
V320I |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 162,079,980 (GRCm39) |
I273N |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 162,119,966 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
T |
C |
1: 184,999,095 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
A |
5: 130,240,816 (GRCm39) |
A312T |
probably damaging |
Het |
| Rabl6 |
T |
A |
2: 25,488,196 (GRCm39) |
K109N |
probably benign |
Het |
| Rbp7 |
C |
T |
4: 149,539,334 (GRCm39) |
|
probably null |
Het |
| Reg3a |
C |
T |
6: 78,359,224 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Rnf123 |
G |
T |
9: 107,943,598 (GRCm39) |
P546T |
probably benign |
Het |
| Rnmt |
C |
A |
18: 68,447,152 (GRCm39) |
C345* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slc14a2 |
C |
T |
18: 78,252,236 (GRCm39) |
S25N |
possibly damaging |
Het |
| Spata16 |
G |
T |
3: 26,967,413 (GRCm39) |
G388W |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,400,031 (GRCm39) |
R2493W |
probably damaging |
Het |
| Thada |
T |
A |
17: 84,736,125 (GRCm39) |
D970V |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,331,441 (GRCm39) |
Y103H |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,628,440 (GRCm39) |
D12827E |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,627,030 (GRCm39) |
L976S |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 42,836,909 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Emilin3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01104:Emilin3
|
APN |
2 |
160,751,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL02813:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL02892:Emilin3
|
APN |
2 |
160,751,069 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03012:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03017:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03083:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03094:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03163:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03206:Emilin3
|
APN |
2 |
160,752,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02835:Emilin3
|
UTSW |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03046:Emilin3
|
UTSW |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
PIT1430001:Emilin3
|
UTSW |
2 |
160,750,402 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0373:Emilin3
|
UTSW |
2 |
160,751,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0392:Emilin3
|
UTSW |
2 |
160,752,799 (GRCm39) |
unclassified |
probably benign |
|
|
R0420:Emilin3
|
UTSW |
2 |
160,752,799 (GRCm39) |
unclassified |
probably benign |
|
|
R0627:Emilin3
|
UTSW |
2 |
160,750,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0628:Emilin3
|
UTSW |
2 |
160,752,799 (GRCm39) |
unclassified |
probably benign |
|
|
R0671:Emilin3
|
UTSW |
2 |
160,750,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Emilin3
|
UTSW |
2 |
160,752,786 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2016:Emilin3
|
UTSW |
2 |
160,751,530 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2017:Emilin3
|
UTSW |
2 |
160,751,530 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3624:Emilin3
|
UTSW |
2 |
160,750,177 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4062:Emilin3
|
UTSW |
2 |
160,749,716 (GRCm39) |
missense |
probably benign |
|
|
R4307:Emilin3
|
UTSW |
2 |
160,750,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4365:Emilin3
|
UTSW |
2 |
160,750,406 (GRCm39) |
missense |
probably benign |
|
|
R4669:Emilin3
|
UTSW |
2 |
160,752,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5076:Emilin3
|
UTSW |
2 |
160,751,238 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5227:Emilin3
|
UTSW |
2 |
160,751,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5725:Emilin3
|
UTSW |
2 |
160,750,410 (GRCm39) |
nonsense |
probably null |
|
|
R5914:Emilin3
|
UTSW |
2 |
160,750,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Emilin3
|
UTSW |
2 |
160,751,105 (GRCm39) |
missense |
probably benign |
|
|
R6030:Emilin3
|
UTSW |
2 |
160,751,105 (GRCm39) |
missense |
probably benign |
|
|
R6919:Emilin3
|
UTSW |
2 |
160,750,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7353:Emilin3
|
UTSW |
2 |
160,750,741 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7618:Emilin3
|
UTSW |
2 |
160,751,199 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7773:Emilin3
|
UTSW |
2 |
160,752,718 (GRCm39) |
nonsense |
probably null |
|
|
R7785:Emilin3
|
UTSW |
2 |
160,752,694 (GRCm39) |
nonsense |
probably null |
|
|
R8082:Emilin3
|
UTSW |
2 |
160,750,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8187:Emilin3
|
UTSW |
2 |
160,750,000 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8887:Emilin3
|
UTSW |
2 |
160,751,108 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9241:Emilin3
|
UTSW |
2 |
160,750,177 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
RF009:Emilin3
|
UTSW |
2 |
160,751,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Emilin3
|
UTSW |
2 |
160,749,721 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2015-04-16 |
Incidental Mutation