Incidental Mutation 'IGL01104:Emilin3'
| ID |
50521 |
| 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 # |
IGL01104
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
160748357-160754248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 160751703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 112
(V112E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105080
(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: V112E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: V112E
| 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 |
probably damaging
Transcript: ENSMUST00000109454
AA Change: V112E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: V112E
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
A |
1: 89,653,797 (GRCm39) |
|
probably benign |
Het |
| AU015836 |
A |
T |
X: 93,015,493 (GRCm39) |
D15V |
probably damaging |
Het |
| Capns2 |
G |
T |
8: 93,628,383 (GRCm39) |
D91Y |
probably damaging |
Het |
| Chd6 |
C |
T |
2: 160,803,847 (GRCm39) |
R2071Q |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,444,266 (GRCm39) |
P1334T |
unknown |
Het |
| Dusp12 |
T |
G |
1: 170,702,042 (GRCm39) |
H319P |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,439,240 (GRCm39) |
F455L |
probably damaging |
Het |
| F10 |
G |
A |
8: 13,105,686 (GRCm39) |
G417D |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 16,287,024 (GRCm39) |
V833G |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,909,756 (GRCm39) |
L2082H |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,460,073 (GRCm39) |
M667K |
probably damaging |
Het |
| Gpr50 |
T |
A |
X: 70,710,833 (GRCm39) |
L305H |
probably damaging |
Het |
| Grhl1 |
A |
G |
12: 24,634,453 (GRCm39) |
K217R |
probably damaging |
Het |
| Itgb2 |
A |
G |
10: 77,383,028 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
A |
2: 136,926,298 (GRCm39) |
I1035L |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,406,766 (GRCm39) |
|
probably benign |
Het |
| Lima1 |
A |
C |
15: 99,741,581 (GRCm39) |
S32A |
probably damaging |
Het |
| Lmod1 |
C |
T |
1: 135,292,522 (GRCm39) |
T459I |
probably damaging |
Het |
| Mtch1 |
T |
C |
17: 29,555,196 (GRCm39) |
D284G |
probably damaging |
Het |
| Mtus2 |
C |
T |
5: 148,013,819 (GRCm39) |
|
probably null |
Het |
| Or7c19 |
A |
G |
8: 85,957,813 (GRCm39) |
T230A |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,912,355 (GRCm39) |
Q742R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,191,965 (GRCm39) |
R1492G |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,434,466 (GRCm39) |
T323A |
possibly damaging |
Het |
| Slc22a8 |
A |
G |
19: 8,585,329 (GRCm39) |
T293A |
possibly damaging |
Het |
| Smc4 |
T |
C |
3: 68,934,917 (GRCm39) |
I677T |
possibly damaging |
Het |
| Ufd1 |
T |
C |
16: 18,633,587 (GRCm39) |
F4S |
probably damaging |
Het |
| Usp9x |
T |
C |
X: 13,027,142 (GRCm39) |
V16A |
probably damaging |
Het |
| Vmn2r31 |
A |
T |
7: 7,399,565 (GRCm39) |
C131S |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,996 (GRCm39) |
I640T |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,660,519 (GRCm39) |
C2676R |
probably damaging |
Het |
|
| Other mutations in Emilin3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02231:Emilin3
|
APN |
2 |
160,750,435 (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 |
2013-06-21 |
Incidental Mutation