Incidental Mutation 'R2100:Emilin1'
| ID |
230423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emilin1
|
| Ensembl Gene |
ENSMUSG00000029163 |
| Gene Name |
elastin microfibril interfacer 1 |
| Synonyms |
gp115, 5830419M17Rik, EMILIN-1 |
| MMRRC Submission |
040104-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R2100 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31070746-31078621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 31075241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 494
(V494G)
|
| 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: V494G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: V494G
| 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 |
noncoding transcript
Transcript: ENSMUST00000201169
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000202368
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
T |
17: 24,627,183 (GRCm39) |
R1295W |
probably damaging |
Het |
| Abca8b |
A |
T |
11: 109,828,608 (GRCm39) |
I1430N |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,763,202 (GRCm39) |
T577A |
probably damaging |
Het |
| Arl5b |
G |
A |
2: 15,078,006 (GRCm39) |
M101I |
probably benign |
Het |
| C1qbp |
T |
A |
11: 70,868,928 (GRCm39) |
N278I |
probably benign |
Het |
| Cdh1 |
A |
T |
8: 107,386,300 (GRCm39) |
T408S |
possibly damaging |
Het |
| Cfap54 |
T |
A |
10: 92,837,799 (GRCm39) |
I1034F |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Chil4 |
T |
C |
3: 106,121,663 (GRCm39) |
K62R |
probably benign |
Het |
| Crebl2 |
A |
G |
6: 134,828,166 (GRCm39) |
T113A |
probably benign |
Het |
| Cyp2c69 |
C |
A |
19: 39,875,130 (GRCm39) |
V8L |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,869,742 (GRCm39) |
R447G |
probably damaging |
Het |
| Efcab6 |
A |
T |
15: 83,777,168 (GRCm39) |
|
probably null |
Het |
| Enoph1 |
A |
G |
5: 100,211,645 (GRCm39) |
I181V |
probably null |
Het |
| F3 |
T |
C |
3: 121,526,082 (GRCm39) |
V215A |
possibly damaging |
Het |
| Fads2b |
T |
C |
2: 85,330,593 (GRCm39) |
N238S |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 16,288,726 (GRCm39) |
H266N |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,834 (GRCm39) |
T995A |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,936,657 (GRCm39) |
T171A |
probably benign |
Het |
| Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,051,748 (GRCm39) |
|
probably null |
Het |
| Kctd6 |
T |
C |
14: 8,222,239 (GRCm38) |
L27P |
possibly damaging |
Het |
| Kmt2d |
G |
T |
15: 98,744,361 (GRCm39) |
|
probably benign |
Het |
| Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
A |
G |
3: 104,418,946 (GRCm39) |
L21P |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,291,699 (GRCm39) |
Q3284* |
probably null |
Het |
| Mnt |
A |
G |
11: 74,722,177 (GRCm39) |
E8G |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,344,430 (GRCm39) |
|
probably null |
Het |
| Nid2 |
C |
T |
14: 19,828,946 (GRCm39) |
Q331* |
probably null |
Het |
| Nlrx1 |
A |
G |
9: 44,173,905 (GRCm39) |
L432P |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,117,785 (GRCm39) |
D445E |
probably damaging |
Het |
| Nup62 |
T |
C |
7: 44,478,921 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
A |
G |
5: 120,883,740 (GRCm39) |
|
probably null |
Het |
| Or5b121 |
A |
G |
19: 13,507,798 (GRCm39) |
I298V |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,761 (GRCm39) |
Y220F |
probably benign |
Het |
| Or5w10 |
T |
A |
2: 87,375,169 (GRCm39) |
T240S |
probably damaging |
Het |
| Or8k40 |
A |
T |
2: 86,584,905 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,600 (GRCm39) |
M118T |
possibly damaging |
Het |
| P3h3 |
T |
A |
6: 124,822,005 (GRCm39) |
T623S |
probably damaging |
Het |
| Pkp3 |
T |
C |
7: 140,663,205 (GRCm39) |
V350A |
probably damaging |
Het |
| Plekha3 |
T |
A |
2: 76,523,007 (GRCm39) |
I225N |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,358,128 (GRCm39) |
K4292* |
probably null |
Het |
| Rtkn |
T |
C |
6: 83,126,541 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Snx10 |
T |
C |
6: 51,565,395 (GRCm39) |
Y171H |
probably damaging |
Het |
| Stx12 |
A |
T |
4: 132,587,913 (GRCm39) |
I173N |
possibly damaging |
Het |
| Thrb |
T |
A |
14: 18,030,393 (GRCm38) |
M379K |
possibly damaging |
Het |
| Tmem132e |
T |
A |
11: 82,335,357 (GRCm39) |
V813E |
probably damaging |
Het |
| Tnfsf12 |
T |
C |
11: 69,578,175 (GRCm39) |
E134G |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpbgl |
T |
A |
7: 99,275,651 (GRCm39) |
I69F |
possibly damaging |
Het |
| Ythdc1 |
T |
A |
5: 86,964,544 (GRCm39) |
S130T |
possibly damaging |
Het |
| Zbp1 |
A |
G |
2: 173,051,037 (GRCm39) |
S278P |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,492,951 (GRCm39) |
T483A |
probably benign |
Het |
| Zfp322a |
G |
A |
13: 23,541,460 (GRCm39) |
S94L |
possibly damaging |
Het |
| Zfp646 |
T |
G |
7: 127,481,359 (GRCm39) |
Y1179D |
probably damaging |
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 |
|
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 |
|
R7047:Emilin1
|
UTSW |
5 |
31,074,422 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- AGGACCGCTTCAACTCTACC -3'
(R):5'- CGCAGTAAGATTTCTGCTGCAG -3'
Sequencing Primer
(F):5'- TACCCTAGGTCCCTCAGAGGAG -3'
(R):5'- AGTAAGATTTCTGCTGCAGTCTCC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation