Incidental Mutation 'R8082:Emilin3'
ID |
629398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emilin3
|
Ensembl Gene |
ENSMUSG00000050700 |
Gene Name |
elastin microfibril interfacer 3 |
Synonyms |
1110013O17Rik, EMILIN-T, Emilin5 |
MMRRC Submission |
067515-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8082 (G1)
|
Quality Score |
220.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
160748357-160754248 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 160750066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 561
(V561G)
|
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: V561G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000059732 Gene: ENSMUSG00000050700 AA Change: V561G
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: V514G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105080 Gene: ENSMUSG00000050700 AA Change: V514G
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,188,895 (GRCm39) |
|
probably null |
Het |
4921524J17Rik |
G |
A |
8: 86,136,468 (GRCm39) |
A133V |
possibly damaging |
Het |
AAdacl4fm3 |
A |
C |
4: 144,441,897 (GRCm39) |
F118C |
probably damaging |
Het |
Amd1 |
A |
G |
10: 40,166,508 (GRCm39) |
F123L |
probably benign |
Het |
Ankrd34c |
C |
A |
9: 89,610,768 (GRCm39) |
K524N |
probably damaging |
Het |
Bicd2 |
C |
T |
13: 49,532,529 (GRCm39) |
Q372* |
probably null |
Het |
Cadps2 |
T |
A |
6: 23,323,313 (GRCm39) |
M1002L |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,200,786 (GRCm39) |
Y86C |
possibly damaging |
Het |
Ccdc141 |
T |
C |
2: 76,954,588 (GRCm39) |
I220V |
probably damaging |
Het |
Cep152 |
T |
C |
2: 125,428,313 (GRCm39) |
T773A |
probably benign |
Het |
Cgn |
A |
G |
3: 94,670,368 (GRCm39) |
F1029L |
probably benign |
Het |
Cntnap5b |
T |
A |
1: 100,306,941 (GRCm39) |
M515K |
probably benign |
Het |
Col6a6 |
T |
A |
9: 105,661,129 (GRCm39) |
K327* |
probably null |
Het |
Cspg4 |
A |
G |
9: 56,793,177 (GRCm39) |
Y304C |
probably damaging |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Dync2i1 |
T |
A |
12: 116,177,127 (GRCm39) |
|
probably null |
Het |
Ecpas |
G |
A |
4: 58,807,852 (GRCm39) |
A1672V |
probably benign |
Het |
Fam3c |
T |
A |
6: 22,343,303 (GRCm39) |
D12V |
unknown |
Het |
Fam83f |
T |
C |
15: 80,574,119 (GRCm39) |
V158A |
probably damaging |
Het |
Fgfbp1 |
T |
C |
5: 44,136,621 (GRCm39) |
R224G |
probably damaging |
Het |
Gid4 |
A |
G |
11: 60,327,273 (GRCm39) |
K153E |
probably damaging |
Het |
H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
Hic2 |
A |
G |
16: 17,076,563 (GRCm39) |
H464R |
probably damaging |
Het |
Ilvbl |
C |
T |
10: 78,419,987 (GRCm39) |
R602C |
probably damaging |
Het |
Ints15 |
T |
C |
5: 143,297,607 (GRCm39) |
R147G |
probably benign |
Het |
Izumo1r |
T |
A |
9: 14,805,373 (GRCm39) |
D171V |
unknown |
Het |
Kel |
T |
A |
6: 41,680,424 (GRCm39) |
E12V |
possibly damaging |
Het |
Klf15 |
T |
C |
6: 90,443,466 (GRCm39) |
S14P |
possibly damaging |
Het |
Lars1 |
T |
A |
18: 42,377,975 (GRCm39) |
S147C |
probably damaging |
Het |
Lgals1 |
C |
T |
15: 78,814,301 (GRCm39) |
A122V |
probably benign |
Het |
Lgsn |
C |
T |
1: 31,243,273 (GRCm39) |
H452Y |
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,348,248 (GRCm39) |
I2816F |
unknown |
Het |
Mcoln1 |
T |
A |
8: 3,557,420 (GRCm39) |
I142K |
probably benign |
Het |
Met |
G |
A |
6: 17,492,312 (GRCm39) |
R358Q |
probably damaging |
Het |
Mink1 |
T |
A |
11: 70,504,103 (GRCm39) |
C1276S |
possibly damaging |
Het |
Mrc1 |
T |
C |
2: 14,253,771 (GRCm39) |
M264T |
probably benign |
Het |
Mtfr2 |
C |
T |
10: 20,229,135 (GRCm39) |
T81M |
probably benign |
Het |
Myo5c |
G |
A |
9: 75,182,793 (GRCm39) |
A811T |
possibly damaging |
Het |
Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
Ndufs3 |
T |
C |
2: 90,725,208 (GRCm39) |
D213G |
probably damaging |
Het |
Or51k1 |
T |
A |
7: 103,661,897 (GRCm39) |
E4V |
probably benign |
Het |
Or5ac20 |
T |
C |
16: 59,104,750 (GRCm39) |
T37A |
possibly damaging |
Het |
Or5g9 |
T |
C |
2: 85,551,824 (GRCm39) |
V25A |
probably benign |
Het |
Or9g8 |
T |
A |
2: 85,607,044 (GRCm39) |
L39I |
probably benign |
Het |
Otog |
C |
T |
7: 45,939,143 (GRCm39) |
R2058C |
probably damaging |
Het |
Pcdh10 |
A |
T |
3: 45,336,179 (GRCm39) |
K831M |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,957,652 (GRCm39) |
D569G |
probably benign |
Het |
Polr3b |
T |
C |
10: 84,491,927 (GRCm39) |
L362P |
probably damaging |
Het |
Rims2 |
G |
T |
15: 39,339,919 (GRCm39) |
R871L |
probably benign |
Het |
Shprh |
T |
A |
10: 11,027,555 (GRCm39) |
I54N |
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,218,548 (GRCm39) |
D263G |
possibly damaging |
Het |
Slc43a1 |
C |
T |
2: 84,687,244 (GRCm39) |
R382C |
probably benign |
Het |
Sorbs1 |
T |
C |
19: 40,353,527 (GRCm39) |
R193G |
probably benign |
Het |
Spata31e5 |
T |
A |
1: 28,816,579 (GRCm39) |
K484N |
probably benign |
Het |
Sry |
T |
A |
Y: 2,662,589 (GRCm39) |
Q357L |
unknown |
Het |
Taar8b |
T |
A |
10: 23,967,789 (GRCm39) |
D135V |
possibly damaging |
Het |
Tekt3 |
T |
G |
11: 62,961,056 (GRCm39) |
V75G |
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,116,351 (GRCm39) |
L198P |
probably damaging |
Het |
Tuba1a |
C |
T |
15: 98,848,742 (GRCm39) |
V177I |
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 |
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 |
|
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'- TCGTTCTCGTTCATCCAGGG -3'
(R):5'- GAGTGCCATACCAGACAGATC -3'
Sequencing Primer
(F):5'- CATCCAGGGATGTGTTGGCAG -3'
(R):5'- TACCAGACAGATCAGCGCGG -3'
|
Posted On |
2020-06-30 |