Incidental Mutation 'R7047:Emilin1'
| ID |
547364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emilin1
|
| Ensembl Gene |
ENSMUSG00000029163 |
| Gene Name |
elastin microfibril interfacer 1 |
| Synonyms |
gp115, 5830419M17Rik, EMILIN-1 |
| MMRRC Submission |
045145-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R7047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31070746-31078621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31074422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 221
(N221S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031053]
[ENSMUST00000031055]
[ENSMUST00000201571]
[ENSMUST00000201621]
[ENSMUST00000202752]
|
| AlphaFold |
Q99K41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031053
|
| SMART Domains |
Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PfkB
|
3 |
293 |
5.7e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031055
AA Change: N221S
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: N221S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
57 |
128 |
1.2e-19 |
PFAM |
|
low complexity region
|
141 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
171 |
N/A |
INTRINSIC |
|
coiled coil region
|
174 |
210 |
N/A |
INTRINSIC |
|
coiled coil region
|
237 |
263 |
N/A |
INTRINSIC |
|
coiled coil region
|
310 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
400 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
422 |
474 |
9.62e-7 |
PROSPERO |
|
coiled coil region
|
527 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
639 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
704 |
758 |
9.62e-7 |
PROSPERO |
|
low complexity region
|
780 |
810 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
813 |
870 |
3.3e-10 |
PFAM |
|
Pfam:C1q
|
873 |
1008 |
1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201571
|
| SMART Domains |
Protein: ENSMUSP00000144226
Gene: ENSMUSG00000029162
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PfkB
|
3 |
70 |
2.4e-5 |
PFAM |
|
Pfam:PfkB
|
65 |
249 |
4.5e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201621
|
| SMART Domains |
Protein: ENSMUSP00000144050
Gene: ENSMUSG00000029162
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PfkB
|
3 |
294 |
1.5e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202752
|
| SMART Domains |
Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PfkB
|
3 |
243 |
5.8e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display no goss abnormalities. However, histological defects occur in the skin and aorta relating to elastin fiber abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,382,131 (GRCm39) |
I1278N |
possibly damaging |
Het |
| Adcy5 |
T |
A |
16: 35,087,585 (GRCm39) |
L482Q |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,162,145 (GRCm39) |
I95V |
probably damaging |
Het |
| Anapc1 |
A |
C |
2: 128,457,350 (GRCm39) |
C1887G |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,693,865 (GRCm39) |
|
probably null |
Het |
| Capn11 |
G |
T |
17: 45,949,622 (GRCm39) |
S448* |
probably null |
Het |
| Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,048,539 (GRCm39) |
V65D |
possibly damaging |
Het |
| Col5a1 |
A |
G |
2: 27,818,096 (GRCm39) |
K107R |
unknown |
Het |
| Dbh |
T |
A |
2: 27,055,622 (GRCm39) |
I32N |
possibly damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,802,489 (GRCm39) |
N13K |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,570,002 (GRCm39) |
F470L |
probably damaging |
Het |
| Filip1 |
T |
A |
9: 79,760,916 (GRCm39) |
Q206L |
probably damaging |
Het |
| Garin1b |
T |
A |
6: 29,323,809 (GRCm39) |
L178H |
probably damaging |
Het |
| Gpr63 |
G |
T |
4: 25,007,320 (GRCm39) |
A15S |
probably benign |
Het |
| Grhl3 |
T |
C |
4: 135,276,551 (GRCm39) |
|
probably null |
Het |
| Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,433,238 (GRCm39) |
Y193* |
probably null |
Het |
| Ints1 |
A |
C |
5: 139,744,226 (GRCm39) |
L1512* |
probably null |
Het |
| Kat2b |
A |
G |
17: 53,970,597 (GRCm39) |
Q661R |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,428,554 (GRCm39) |
N1303S |
possibly damaging |
Het |
| L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
| Maml2 |
T |
C |
9: 13,532,177 (GRCm39) |
|
probably benign |
Het |
| Mixl1 |
A |
G |
1: 180,524,183 (GRCm39) |
|
probably null |
Het |
| Mocs1 |
T |
C |
17: 49,759,887 (GRCm39) |
|
probably null |
Het |
| Ms4a15 |
T |
G |
19: 10,962,236 (GRCm39) |
N36T |
probably damaging |
Het |
| Msr1 |
G |
A |
8: 40,095,657 (GRCm39) |
T2I |
possibly damaging |
Het |
| Nlgn1 |
A |
C |
3: 25,490,199 (GRCm39) |
Y509* |
probably null |
Het |
| Nsmce1 |
C |
A |
7: 125,090,606 (GRCm39) |
G4C |
probably benign |
Het |
| Or4c113 |
A |
T |
2: 88,885,490 (GRCm39) |
F93L |
probably damaging |
Het |
| Or51v15-ps1 |
A |
G |
7: 103,278,918 (GRCm39) |
V83A |
probably damaging |
Het |
| Pan3 |
G |
A |
5: 147,483,175 (GRCm39) |
G452D |
probably damaging |
Het |
| Pcyox1 |
G |
T |
6: 86,365,891 (GRCm39) |
P441H |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,904,099 (GRCm39) |
V273A |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,591,148 (GRCm39) |
E181G |
possibly damaging |
Het |
| Ptgfr |
A |
T |
3: 151,541,178 (GRCm39) |
I110N |
possibly damaging |
Het |
| Rab40c |
A |
C |
17: 26,138,458 (GRCm39) |
V8G |
probably damaging |
Het |
| Rasal3 |
T |
A |
17: 32,615,458 (GRCm39) |
Y460F |
probably damaging |
Het |
| Rhbdf2 |
A |
G |
11: 116,494,477 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,839,286 (GRCm39) |
N496Y |
possibly damaging |
Het |
| Sacs |
A |
T |
14: 61,450,451 (GRCm39) |
I4166F |
probably damaging |
Het |
| Sh2d3c |
T |
C |
2: 32,611,172 (GRCm39) |
M1T |
probably null |
Het |
| Smarca2 |
C |
T |
19: 26,646,555 (GRCm39) |
S651L |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,213,540 (GRCm39) |
R1204S |
possibly damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,860,249 (GRCm39) |
Y41H |
probably damaging |
Het |
| Stab2 |
C |
T |
10: 86,694,016 (GRCm39) |
C2075Y |
probably damaging |
Het |
| Tcte1 |
A |
T |
17: 45,844,294 (GRCm39) |
Q90L |
possibly damaging |
Het |
| Tll2 |
C |
T |
19: 41,074,679 (GRCm39) |
G945S |
probably damaging |
Het |
| Tmbim7 |
A |
T |
5: 3,720,112 (GRCm39) |
T116S |
probably benign |
Het |
| Tnfrsf19 |
A |
T |
14: 61,242,667 (GRCm39) |
C72* |
probably null |
Het |
| Usp17le |
T |
A |
7: 104,417,640 (GRCm39) |
T501S |
probably benign |
Het |
| Wnt5b |
T |
A |
6: 119,425,217 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Emilin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Emilin1
|
APN |
5 |
31,071,246 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01100:Emilin1
|
APN |
5 |
31,075,748 (GRCm39) |
missense |
probably benign |
|
|
IGL02150:Emilin1
|
APN |
5 |
31,077,517 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02416:Emilin1
|
APN |
5 |
31,075,132 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02973:Emilin1
|
APN |
5 |
31,078,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0142:Emilin1
|
UTSW |
5 |
31,071,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0419:Emilin1
|
UTSW |
5 |
31,072,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1580:Emilin1
|
UTSW |
5 |
31,074,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1679:Emilin1
|
UTSW |
5 |
31,077,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1802:Emilin1
|
UTSW |
5 |
31,075,082 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1803:Emilin1
|
UTSW |
5 |
31,075,082 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1864:Emilin1
|
UTSW |
5 |
31,075,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Emilin1
|
UTSW |
5 |
31,075,160 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2061:Emilin1
|
UTSW |
5 |
31,075,082 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2100:Emilin1
|
UTSW |
5 |
31,075,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2201:Emilin1
|
UTSW |
5 |
31,073,036 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2206:Emilin1
|
UTSW |
5 |
31,075,082 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2274:Emilin1
|
UTSW |
5 |
31,075,082 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2275:Emilin1
|
UTSW |
5 |
31,075,082 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2285:Emilin1
|
UTSW |
5 |
31,075,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Emilin1
|
UTSW |
5 |
31,074,509 (GRCm39) |
missense |
probably benign |
0.38 |
|
R3706:Emilin1
|
UTSW |
5 |
31,075,166 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4205:Emilin1
|
UTSW |
5 |
31,077,243 (GRCm39) |
unclassified |
probably benign |
|
|
R4865:Emilin1
|
UTSW |
5 |
31,075,128 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4878:Emilin1
|
UTSW |
5 |
31,074,410 (GRCm39) |
missense |
probably benign |
|
|
R4981:Emilin1
|
UTSW |
5 |
31,076,695 (GRCm39) |
missense |
probably benign |
|
|
R5113:Emilin1
|
UTSW |
5 |
31,077,964 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5232:Emilin1
|
UTSW |
5 |
31,074,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5853:Emilin1
|
UTSW |
5 |
31,075,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6358:Emilin1
|
UTSW |
5 |
31,075,562 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6807:Emilin1
|
UTSW |
5 |
31,072,871 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6932:Emilin1
|
UTSW |
5 |
31,074,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6955:Emilin1
|
UTSW |
5 |
31,075,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7278:Emilin1
|
UTSW |
5 |
31,078,004 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7305:Emilin1
|
UTSW |
5 |
31,074,433 (GRCm39) |
nonsense |
probably null |
|
|
R8087:Emilin1
|
UTSW |
5 |
31,074,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8208:Emilin1
|
UTSW |
5 |
31,074,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8516:Emilin1
|
UTSW |
5 |
31,074,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8686:Emilin1
|
UTSW |
5 |
31,075,040 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9224:Emilin1
|
UTSW |
5 |
31,074,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Emilin1
|
UTSW |
5 |
31,075,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATAGAATCTGAGCTCTGAGATC -3'
(R):5'- TTCTTCACTGGGGCCAGAAG -3'
Sequencing Primer
(F):5'- AATCTGAGCTCTGAGATCCAGCTG -3'
(R):5'- CACTGGGGCCAGAAGGAACTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation