Incidental Mutation 'R2206:Emilin1'
| ID |
239033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emilin1
|
| Ensembl Gene |
ENSMUSG00000029163 |
| Gene Name |
elastin microfibril interfacer 1 |
| Synonyms |
gp115, 5830419M17Rik, EMILIN-1 |
| MMRRC Submission |
040208-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R2206 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31070746-31078621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31075082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 441
(P441L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000031055
AA Change: P441L
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: P441L
| 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 |
|
| Meta Mutation Damage Score |
0.0622 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 130,964,331 (GRCm39) |
C24S |
probably benign |
Het |
| 2410137M14Rik |
A |
G |
17: 37,288,965 (GRCm39) |
|
probably benign |
Het |
| Abhd18 |
G |
A |
3: 40,865,008 (GRCm39) |
G83D |
probably benign |
Het |
| Adam34 |
T |
C |
8: 44,105,274 (GRCm39) |
I124V |
probably benign |
Het |
| Adck2 |
A |
G |
6: 39,560,773 (GRCm39) |
D123G |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,537,221 (GRCm39) |
E37G |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,470,061 (GRCm39) |
Y466C |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,106,161 (GRCm39) |
|
probably null |
Het |
| Brip1 |
A |
G |
11: 85,952,703 (GRCm39) |
V1026A |
probably benign |
Het |
| Cacna1h |
A |
T |
17: 25,603,987 (GRCm39) |
S1282T |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,717,133 (GRCm39) |
Y109C |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cst13 |
A |
T |
2: 148,665,202 (GRCm39) |
R66W |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,061,175 (GRCm39) |
N237S |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,641,797 (GRCm39) |
T632A |
probably benign |
Het |
| Disp2 |
G |
T |
2: 118,622,725 (GRCm39) |
Q1152H |
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,672,664 (GRCm39) |
H599R |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,027,161 (GRCm39) |
S2090P |
probably benign |
Het |
| Dnajc13 |
C |
G |
9: 104,080,717 (GRCm39) |
V821L |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,403,652 (GRCm39) |
H1617Q |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,355,981 (GRCm39) |
C197R |
probably damaging |
Het |
| Foxn1 |
C |
A |
11: 78,249,630 (GRCm39) |
A632S |
probably benign |
Het |
| Fpr3 |
A |
C |
17: 18,190,908 (GRCm39) |
T60P |
probably damaging |
Het |
| Gja4 |
A |
T |
4: 127,206,410 (GRCm39) |
S118T |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itfg1 |
A |
T |
8: 86,502,827 (GRCm39) |
S246R |
probably benign |
Het |
| Kazn |
A |
T |
4: 141,845,603 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
T |
C |
4: 32,716,271 (GRCm39) |
L2111P |
possibly damaging |
Het |
| Myo6 |
A |
G |
9: 80,165,737 (GRCm39) |
Y374C |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,223,676 (GRCm39) |
G456W |
probably benign |
Het |
| Or1a1 |
G |
T |
11: 74,087,150 (GRCm39) |
V274L |
possibly damaging |
Het |
| Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
| Or5b99 |
A |
G |
19: 12,976,404 (GRCm39) |
D18G |
probably benign |
Het |
| Or9m1b |
A |
G |
2: 87,836,579 (GRCm39) |
V181A |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,608,075 (GRCm39) |
T436S |
probably benign |
Het |
| Pcdhb18 |
T |
A |
18: 37,624,342 (GRCm39) |
N557K |
probably damaging |
Het |
| Pcdhb6 |
T |
C |
18: 37,468,633 (GRCm39) |
M518T |
probably benign |
Het |
| Pcmtd1 |
A |
T |
1: 7,239,807 (GRCm39) |
I83L |
probably benign |
Het |
| Pitrm1 |
T |
A |
13: 6,619,327 (GRCm39) |
Y721N |
probably damaging |
Het |
| Prcp |
C |
T |
7: 92,577,820 (GRCm39) |
T328I |
probably damaging |
Het |
| Psg27 |
C |
A |
7: 18,301,036 (GRCm39) |
E6* |
probably null |
Het |
| Pth1r |
T |
A |
9: 110,552,655 (GRCm39) |
E465V |
probably damaging |
Het |
| Pus7l |
T |
C |
15: 94,421,471 (GRCm39) |
Y613C |
probably damaging |
Het |
| Rsl1 |
A |
G |
13: 67,330,892 (GRCm39) |
T447A |
probably benign |
Het |
| Setd3 |
C |
T |
12: 108,073,544 (GRCm39) |
V578M |
probably benign |
Het |
| Slc10a1 |
T |
C |
12: 81,014,402 (GRCm39) |
N106S |
probably damaging |
Het |
| Slc29a3 |
T |
C |
10: 60,551,686 (GRCm39) |
M453V |
possibly damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,705,326 (GRCm39) |
V844A |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,218,655 (GRCm39) |
H609R |
possibly damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,890,920 (GRCm39) |
V300A |
probably benign |
Het |
| Tmppe |
C |
G |
9: 114,234,640 (GRCm39) |
P313R |
probably benign |
Het |
| Tnxb |
A |
C |
17: 34,928,391 (GRCm39) |
T2602P |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,839,701 (GRCm39) |
N1643S |
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,311,594 (GRCm39) |
|
probably null |
Het |
| Vmn1r177 |
A |
T |
7: 23,565,556 (GRCm39) |
C107S |
probably damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,611 (GRCm39) |
I17M |
possibly damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,910,678 (GRCm39) |
V690E |
possibly damaging |
Het |
| Xaf1 |
A |
T |
11: 72,194,228 (GRCm39) |
E36D |
possibly damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,744,596 (GRCm39) |
Q275* |
probably null |
Het |
| Zfp513 |
T |
G |
5: 31,357,767 (GRCm39) |
K202T |
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 |
|
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 |
|
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'- AGGCTAGATGTAGTGACTGGCTC -3'
(R):5'- TTCCAAGGCACTGAGGATCTC -3'
Sequencing Primer
(F):5'- CTGGCTCACTGACAGTGCTAAG -3'
(R):5'- TGAGGATCTCATTGACCCGAGAATC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation