Incidental Mutation 'R8686:Emilin1'
| ID |
662032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emilin1
|
| Ensembl Gene |
ENSMUSG00000029163 |
| Gene Name |
elastin microfibril interfacer 1 |
| Synonyms |
gp115, 5830419M17Rik, EMILIN-1 |
| MMRRC Submission |
068541-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R8686 (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 T
at 31075040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 427
(K427M)
|
| 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: K427M
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: K427M
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,521 (GRCm39) |
T596A |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,450,207 (GRCm39) |
I303V |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,471,112 (GRCm39) |
H341Q |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,845,325 (GRCm39) |
R939H |
probably damaging |
Het |
| Cd22 |
G |
A |
7: 30,569,494 (GRCm39) |
R541C |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,391,801 (GRCm39) |
M660K |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,231,888 (GRCm39) |
S1067T |
possibly damaging |
Het |
| Col5a2 |
C |
T |
1: 45,461,147 (GRCm39) |
G250D |
probably damaging |
Het |
| Cylc2 |
C |
T |
4: 51,229,651 (GRCm39) |
T331M |
unknown |
Het |
| Dgka |
A |
G |
10: 128,568,962 (GRCm39) |
M201T |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,048,004 (GRCm39) |
I1804V |
probably benign |
Het |
| Dym |
T |
A |
18: 75,419,754 (GRCm39) |
Y642N |
probably damaging |
Het |
| Efr3b |
A |
T |
12: 4,050,886 (GRCm39) |
D26E |
probably damaging |
Het |
| Fam187b |
T |
C |
7: 30,676,659 (GRCm39) |
L56S |
probably benign |
Het |
| Fbh1 |
C |
T |
2: 11,760,469 (GRCm39) |
V694I |
probably benign |
Het |
| Fgd2 |
C |
T |
17: 29,597,997 (GRCm39) |
T644I |
probably benign |
Het |
| G6pc1 |
T |
G |
11: 101,265,533 (GRCm39) |
|
probably null |
Het |
| Gli2 |
A |
G |
1: 118,764,417 (GRCm39) |
S1245P |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Ighv1-84 |
T |
C |
12: 115,944,524 (GRCm39) |
D50G |
probably benign |
Het |
| Impdh1 |
C |
A |
6: 29,216,214 (GRCm39) |
|
probably benign |
Het |
| Inhca |
C |
T |
9: 103,136,627 (GRCm39) |
A525T |
probably benign |
Het |
| Irf4 |
A |
T |
13: 30,945,433 (GRCm39) |
D393V |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 34,181,305 (GRCm39) |
L111P |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,802,223 (GRCm39) |
V58A |
possibly damaging |
Het |
| Lrif1 |
C |
T |
3: 106,640,097 (GRCm39) |
T394I |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,693,498 (GRCm39) |
T434A |
probably benign |
Het |
| Mcur1 |
G |
A |
13: 43,695,193 (GRCm39) |
T327M |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,786,966 (GRCm39) |
S716I |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,419,772 (GRCm39) |
|
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,573,841 (GRCm39) |
T202A |
possibly damaging |
Het |
| Odad1 |
A |
G |
7: 45,597,116 (GRCm39) |
T456A |
probably benign |
Het |
| Or14j7 |
T |
C |
17: 38,235,168 (GRCm39) |
V237A |
probably benign |
Het |
| Or2d4 |
A |
C |
7: 106,543,905 (GRCm39) |
M101R |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,094,856 (GRCm39) |
S80T |
probably benign |
Het |
| Pde1a |
C |
T |
2: 79,758,086 (GRCm39) |
V50I |
probably benign |
Het |
| Pfkl |
A |
T |
10: 77,833,356 (GRCm39) |
|
probably null |
Het |
| Phkg1 |
A |
T |
5: 129,895,056 (GRCm39) |
Y207N |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,535,728 (GRCm39) |
T640A |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,147,827 (GRCm39) |
H411N |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,075,172 (GRCm39) |
S73P |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,483,510 (GRCm39) |
V662A |
probably damaging |
Het |
| Prss43 |
C |
T |
9: 110,658,494 (GRCm39) |
R265C |
possibly damaging |
Het |
| Rap1b |
A |
T |
10: 117,658,746 (GRCm39) |
V29D |
probably damaging |
Het |
| Rraga |
A |
G |
4: 86,495,048 (GRCm39) |
E298G |
probably damaging |
Het |
| Rrp8 |
A |
T |
7: 105,382,781 (GRCm39) |
I418N |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,005,030 (GRCm39) |
V420A |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,297,746 (GRCm39) |
N174I |
probably damaging |
Het |
| Speer4e1 |
T |
C |
5: 14,984,129 (GRCm39) |
N229S |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,083,427 (GRCm39) |
D128G |
probably benign |
Het |
| Teddm3 |
A |
G |
16: 20,971,685 (GRCm39) |
*295Q |
probably null |
Het |
| Tfap2c |
A |
G |
2: 172,393,926 (GRCm39) |
D245G |
possibly damaging |
Het |
| Tfap2d |
A |
G |
1: 19,178,508 (GRCm39) |
N191S |
probably benign |
Het |
| Tmt1b |
A |
T |
10: 128,796,476 (GRCm39) |
M111K |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,651,427 (GRCm39) |
R1591G |
possibly damaging |
Het |
| Vmn1r116 |
T |
C |
7: 20,606,616 (GRCm39) |
W146R |
probably damaging |
Het |
| Vps13b |
C |
G |
15: 35,925,535 (GRCm39) |
S3823R |
probably damaging |
Het |
| Wiz |
T |
A |
17: 32,586,821 (GRCm39) |
D163V |
probably damaging |
Het |
| Xylt1 |
G |
C |
7: 116,980,594 (GRCm39) |
A61P |
unknown |
Het |
| Zfp521 |
A |
C |
18: 13,978,701 (GRCm39) |
F571V |
probably damaging |
Het |
| Zfp664 |
T |
A |
5: 124,963,133 (GRCm39) |
C176S |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,334,227 (GRCm39) |
N264D |
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 |
|
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 |
|
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'- GAGGCTAGATGTAGTGACTGGC -3'
(R):5'- CAAGGCACTGAGGATCTCATTGAC -3'
Sequencing Primer
(F):5'- CTGGCTCACTGACAGTGCTAAG -3'
(R):5'- TGAGGATCTCATTGACCCGAGAATC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation