Incidental Mutation 'IGL02813:Emilin3'
| ID |
360680 |
| 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 # |
IGL02813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
160748357-160754248 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 160750649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 320
(Q320*)
|
| 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 null
Transcript: ENSMUST00000057169
AA Change: Q367*
|
| SMART Domains |
Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: Q367*
| 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 null
Transcript: ENSMUST00000109454
AA Change: Q320*
|
| SMART Domains |
Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: Q320*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
C |
A |
11: 7,096,591 (GRCm39) |
Q660K |
possibly damaging |
Het |
| Arhgap5 |
A |
C |
12: 52,563,748 (GRCm39) |
T240P |
probably benign |
Het |
| Arhgef7 |
C |
T |
8: 11,850,767 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
C |
A |
6: 18,367,537 (GRCm39) |
V1594F |
possibly damaging |
Het |
| Cyp2a22 |
G |
T |
7: 26,635,859 (GRCm39) |
Q235K |
probably benign |
Het |
| Dennd11 |
C |
T |
6: 40,395,473 (GRCm39) |
V212I |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,849,769 (GRCm39) |
N64S |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,644,098 (GRCm39) |
P169S |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,314,251 (GRCm39) |
D183G |
probably damaging |
Het |
| Gpat2 |
T |
C |
2: 127,276,375 (GRCm39) |
V635A |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,174,410 (GRCm39) |
N564S |
probably damaging |
Het |
| Grtp1 |
A |
C |
8: 13,236,945 (GRCm39) |
I173S |
possibly damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,261,415 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,569,229 (GRCm39) |
|
probably null |
Het |
| Mark4 |
A |
T |
7: 19,181,181 (GRCm39) |
|
probably null |
Het |
| Mphosph9 |
T |
C |
5: 124,453,691 (GRCm39) |
D207G |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,251 (GRCm39) |
M41V |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,468,743 (GRCm39) |
*66W |
probably null |
Het |
| Neto2 |
C |
A |
8: 86,417,515 (GRCm39) |
D30Y |
probably benign |
Het |
| Nlrp6 |
A |
T |
7: 140,503,333 (GRCm39) |
I450F |
possibly damaging |
Het |
| Nup155 |
T |
A |
15: 8,159,605 (GRCm39) |
|
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,495 (GRCm39) |
I11M |
probably benign |
Het |
| Pcdhb10 |
T |
G |
18: 37,546,815 (GRCm39) |
S630R |
possibly damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,990,396 (GRCm39) |
|
probably null |
Het |
| Slc12a7 |
T |
A |
13: 73,961,795 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
C |
T |
19: 6,034,886 (GRCm39) |
V192I |
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,781,829 (GRCm39) |
S353T |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,708,441 (GRCm39) |
F753L |
probably damaging |
Het |
| Tcea1 |
C |
T |
1: 4,956,979 (GRCm39) |
T93I |
probably benign |
Het |
| Tecpr2 |
A |
T |
12: 110,899,626 (GRCm39) |
S665C |
probably damaging |
Het |
| Tor4a |
C |
A |
2: 25,084,761 (GRCm39) |
E381* |
probably null |
Het |
| Vdr |
A |
G |
15: 97,767,562 (GRCm39) |
Y143H |
probably benign |
Het |
| Vmn2r91 |
A |
C |
17: 18,356,348 (GRCm39) |
T672P |
possibly damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,753 (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 |
|
IGL02231:Emilin3
|
APN |
2 |
160,750,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812: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 |
2015-12-18 |
Incidental Mutation