Incidental Mutation 'R7618:Emilin3'
| ID |
588984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emilin3
|
| Ensembl Gene |
ENSMUSG00000050700 |
| Gene Name |
elastin microfibril interfacer 3 |
| Synonyms |
1110013O17Rik, EMILIN-T, Emilin5 |
| MMRRC Submission |
045685-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7618 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
160748357-160754248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 160751199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 183
(E183D)
|
| 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 benign
Transcript: ENSMUST00000057169
AA Change: E183D
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: E183D
| 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 benign
Transcript: ENSMUST00000109454
|
| SMART Domains |
Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
| 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 |
|
| Meta Mutation Damage Score |
0.0583 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,736,300 (GRCm39) |
D1830G |
|
Het |
| Alms1 |
A |
G |
6: 85,655,399 (GRCm39) |
N2846S |
probably benign |
Het |
| Amt |
A |
C |
9: 108,177,077 (GRCm39) |
E228D |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,714,925 (GRCm39) |
M618V |
probably benign |
Het |
| Ankrd60 |
T |
C |
2: 173,412,834 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
A |
G |
6: 48,883,320 (GRCm39) |
T399A |
possibly damaging |
Het |
| Aqp11 |
T |
A |
7: 97,386,873 (GRCm39) |
I108F |
probably benign |
Het |
| Arfgef3 |
G |
T |
10: 18,522,029 (GRCm39) |
Q666K |
probably damaging |
Het |
| Bin2 |
T |
A |
15: 100,542,894 (GRCm39) |
R430W |
probably damaging |
Het |
| Brme1 |
A |
G |
8: 84,893,499 (GRCm39) |
Q222R |
possibly damaging |
Het |
| Cdh18 |
T |
A |
15: 23,367,056 (GRCm39) |
V254D |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,183,155 (GRCm39) |
S159R |
|
Het |
| Clnk |
A |
T |
5: 38,893,698 (GRCm39) |
S220T |
probably benign |
Het |
| Col19a1 |
G |
T |
1: 24,361,165 (GRCm39) |
H608Q |
probably benign |
Het |
| Cplx1 |
C |
T |
5: 108,673,395 (GRCm39) |
E24K |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,577,601 (GRCm39) |
L2031Q |
probably damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,872 (GRCm39) |
E79G |
probably benign |
Het |
| Eif4g3 |
T |
C |
4: 137,898,429 (GRCm39) |
S902P |
probably damaging |
Het |
| Fam124b |
G |
A |
1: 80,191,554 (GRCm39) |
|
probably benign |
Het |
| Gm9195 |
T |
C |
14: 72,690,275 (GRCm39) |
Y1816C |
probably damaging |
Het |
| Ighv5-9-1 |
T |
A |
12: 113,699,819 (GRCm39) |
I98F |
probably damaging |
Het |
| Il31ra |
G |
A |
13: 112,688,514 (GRCm39) |
P21L |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,352,578 (GRCm39) |
I121V |
possibly damaging |
Het |
| Kif11 |
T |
C |
19: 37,400,008 (GRCm39) |
W832R |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,638,772 (GRCm39) |
T490A |
possibly damaging |
Het |
| Lars1 |
G |
T |
18: 42,377,956 (GRCm39) |
A153E |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,421,334 (GRCm39) |
I4275L |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,561 (GRCm39) |
C294* |
probably null |
Het |
| Nceh1 |
T |
A |
3: 27,237,366 (GRCm39) |
|
probably null |
Het |
| Ncf1 |
T |
A |
5: 134,256,121 (GRCm39) |
T93S |
probably benign |
Het |
| Nfatc2 |
G |
A |
2: 168,376,919 (GRCm39) |
R545C |
probably damaging |
Het |
| Nos1 |
C |
T |
5: 118,042,009 (GRCm39) |
P545S |
probably benign |
Het |
| Ogfod3 |
C |
A |
11: 121,093,804 (GRCm39) |
V69F |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,180 (GRCm39) |
Y254* |
probably null |
Het |
| Phf12 |
A |
G |
11: 77,916,960 (GRCm39) |
N272S |
unknown |
Het |
| Prkcz |
T |
A |
4: 155,346,939 (GRCm39) |
I581F |
probably damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,136,085 (GRCm39) |
H8R |
|
Het |
| Rb1cc1 |
T |
A |
1: 6,335,782 (GRCm39) |
|
probably null |
Het |
| Rcor2 |
T |
A |
19: 7,248,411 (GRCm39) |
M186K |
possibly damaging |
Het |
| Rnf111 |
C |
A |
9: 70,410,614 (GRCm39) |
|
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,534,550 (GRCm39) |
C602W |
possibly damaging |
Het |
| Serinc3 |
A |
T |
2: 163,472,889 (GRCm39) |
F247Y |
possibly damaging |
Het |
| Serpina1c |
T |
A |
12: 103,865,029 (GRCm39) |
I206F |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,387,797 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
G |
12: 75,992,108 (GRCm39) |
H1993Q |
probably benign |
Het |
| Tap1 |
A |
G |
17: 34,407,212 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Tex30 |
A |
T |
1: 44,127,410 (GRCm39) |
|
probably null |
Het |
| Ube2ql1 |
G |
T |
13: 69,887,066 (GRCm39) |
Q132K |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,957,547 (GRCm39) |
N803D |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,840,342 (GRCm39) |
S1734F |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,707,696 (GRCm39) |
Y2630C |
|
Het |
| Wdr93 |
A |
G |
7: 79,435,474 (GRCm39) |
T668A |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGCACCTTGGTCTGTAATG -3'
(R):5'- TGAGCCATGACTGTAAAACCCC -3'
Sequencing Primer
(F):5'- TTGCTCAGGATCTCACTCAGAGG -3'
(R):5'- ATAACATGTTGGAGGGCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation