Incidental Mutation 'R5725:Emilin3'
ID |
452422 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emilin3
|
Ensembl Gene |
ENSMUSG00000050700 |
Gene Name |
elastin microfibril interfacer 3 |
Synonyms |
1110013O17Rik, EMILIN-T, Emilin5 |
MMRRC Submission |
043343-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5725 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
160748357-160754248 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 160750410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 399
(C399*)
|
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: C446*
|
SMART Domains |
Protein: ENSMUSP00000059732 Gene: ENSMUSG00000050700 AA Change: C446*
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: C399*
|
SMART Domains |
Protein: ENSMUSP00000105080 Gene: ENSMUSG00000050700 AA Change: C399*
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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
A |
12: 71,240,093 (GRCm39) |
R1301H |
probably benign |
Het |
6030468B19Rik |
G |
T |
11: 117,696,883 (GRCm39) |
S201I |
probably damaging |
Het |
Abca13 |
G |
A |
11: 9,527,181 (GRCm39) |
M4531I |
probably benign |
Het |
Abca2 |
A |
G |
2: 25,329,412 (GRCm39) |
M1058V |
probably damaging |
Het |
Agrn |
T |
A |
4: 156,258,332 (GRCm39) |
T938S |
probably benign |
Het |
Aloxe3 |
A |
T |
11: 69,019,480 (GRCm39) |
D131V |
probably null |
Het |
Angptl7 |
C |
A |
4: 148,580,965 (GRCm39) |
A277S |
possibly damaging |
Het |
Ap5z1 |
T |
C |
5: 142,454,731 (GRCm39) |
M244T |
probably damaging |
Het |
Aplp2 |
T |
C |
9: 31,069,110 (GRCm39) |
D573G |
probably damaging |
Het |
Arid5a |
G |
T |
1: 36,358,211 (GRCm39) |
E176* |
probably null |
Het |
Atp8b4 |
A |
T |
2: 126,275,856 (GRCm39) |
N125K |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,468,584 (GRCm39) |
V911A |
probably benign |
Het |
Bahcc1 |
G |
A |
11: 120,165,714 (GRCm39) |
R990H |
probably benign |
Het |
Cd84 |
T |
C |
1: 171,700,928 (GRCm39) |
F230L |
probably benign |
Het |
Dtnb |
T |
A |
12: 3,823,566 (GRCm39) |
L584H |
probably damaging |
Het |
Dync2h1 |
A |
C |
9: 7,169,528 (GRCm39) |
S316R |
probably benign |
Het |
Eif3m |
A |
G |
2: 104,844,186 (GRCm39) |
I73T |
probably damaging |
Het |
Fam118a |
A |
G |
15: 84,929,822 (GRCm39) |
K17E |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,943,774 (GRCm39) |
N889S |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,273,827 (GRCm39) |
|
probably null |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
Itgax |
A |
G |
7: 127,747,033 (GRCm39) |
T945A |
possibly damaging |
Het |
Itsn2 |
T |
A |
12: 4,680,767 (GRCm39) |
|
probably benign |
Het |
Kcna4 |
A |
G |
2: 107,127,221 (GRCm39) |
T652A |
possibly damaging |
Het |
Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
Lrp4 |
A |
G |
2: 91,325,240 (GRCm39) |
Y1355C |
probably damaging |
Het |
Mmp9 |
C |
A |
2: 164,791,256 (GRCm39) |
A142E |
possibly damaging |
Het |
Mpeg1 |
T |
C |
19: 12,440,000 (GRCm39) |
V486A |
probably benign |
Het |
Mrgprb3 |
A |
T |
7: 48,293,548 (GRCm39) |
M1K |
probably null |
Het |
Mrtfb |
A |
T |
16: 13,202,174 (GRCm39) |
K146* |
probably null |
Het |
Nacad |
T |
C |
11: 6,551,643 (GRCm39) |
E516G |
probably benign |
Het |
Or5k15 |
G |
A |
16: 58,710,250 (GRCm39) |
T111I |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,107,647 (GRCm39) |
V686E |
probably damaging |
Het |
Polr3a |
A |
T |
14: 24,515,455 (GRCm39) |
|
probably null |
Het |
Ppp1r3a |
A |
G |
6: 14,719,348 (GRCm39) |
V522A |
probably benign |
Het |
Rab6b |
T |
A |
9: 103,041,061 (GRCm39) |
F152I |
probably damaging |
Het |
Sacs |
G |
A |
14: 61,448,559 (GRCm39) |
R3535Q |
probably damaging |
Het |
Septin14 |
T |
C |
5: 129,766,630 (GRCm39) |
D317G |
probably damaging |
Het |
Sin3b |
T |
C |
8: 73,452,320 (GRCm39) |
|
probably null |
Het |
Sis |
G |
A |
3: 72,872,931 (GRCm39) |
P69L |
probably damaging |
Het |
Slc12a3 |
G |
T |
8: 95,057,074 (GRCm39) |
V116L |
probably benign |
Het |
Slc16a12 |
A |
T |
19: 34,652,227 (GRCm39) |
F306L |
probably damaging |
Het |
Slc39a12 |
T |
C |
2: 14,394,075 (GRCm39) |
|
probably benign |
Het |
Smg6 |
A |
G |
11: 74,821,439 (GRCm39) |
Q570R |
probably benign |
Het |
Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
Srsf4 |
C |
A |
4: 131,628,262 (GRCm39) |
|
probably benign |
Het |
Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
Trav19 |
A |
C |
14: 54,082,999 (GRCm39) |
T25P |
possibly damaging |
Het |
Trim3 |
A |
G |
7: 105,266,947 (GRCm39) |
|
probably null |
Het |
Ugt2a2 |
T |
C |
5: 87,622,755 (GRCm39) |
N281S |
probably damaging |
Het |
Vmn1r12 |
A |
G |
6: 57,136,694 (GRCm39) |
I264V |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,476,489 (GRCm39) |
I403F |
possibly damaging |
Het |
Zzef1 |
G |
A |
11: 72,746,308 (GRCm39) |
R870Q |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCCAGTACTGCTAGTTCTGAATG -3'
(R):5'- CTTGCATCAGAGCCTCGATG -3'
Sequencing Primer
(F):5'- TTCTGAATGAACAAGCGGCC -3'
(R):5'- AACTGGCTTTGATCAGTGCC -3'
|
Posted On |
2017-01-03 |