Incidental Mutation 'R2851:Emilin1'
ID |
252194 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emilin1
|
Ensembl Gene |
ENSMUSG00000029163 |
Gene Name |
elastin microfibril interfacer 1 |
Synonyms |
gp115, 5830419M17Rik, EMILIN-1 |
MMRRC Submission |
040444-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R2851 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31070746-31078621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31074509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 250
(D250G)
|
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: D250G
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000031055 Gene: ENSMUSG00000029163 AA Change: D250G
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 |
0.1556 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (61/62) |
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 |
Als2cl |
T |
C |
9: 110,723,203 (GRCm39) |
S636P |
probably damaging |
Het |
Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
Ccdc85a |
A |
G |
11: 28,342,942 (GRCm39) |
|
probably benign |
Het |
Ceacam11 |
T |
C |
7: 17,712,451 (GRCm39) |
I300T |
probably benign |
Het |
Cmtm5 |
A |
G |
14: 55,175,512 (GRCm39) |
|
probably benign |
Het |
Cnn3 |
C |
T |
3: 121,243,702 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,585,614 (GRCm39) |
N1254K |
probably damaging |
Het |
Crispld2 |
T |
A |
8: 120,740,828 (GRCm39) |
L107Q |
probably damaging |
Het |
Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
Cyp1b1 |
T |
C |
17: 80,017,649 (GRCm39) |
N502S |
probably benign |
Het |
Cyp51 |
A |
T |
5: 4,149,183 (GRCm39) |
D231E |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
Dscam |
T |
C |
16: 96,423,915 (GRCm39) |
T1677A |
possibly damaging |
Het |
Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
Frrs1 |
A |
G |
3: 116,678,778 (GRCm39) |
N200S |
probably benign |
Het |
Fstl5 |
T |
A |
3: 76,337,045 (GRCm39) |
|
probably benign |
Het |
Gmcl1 |
A |
C |
6: 86,703,159 (GRCm39) |
S92A |
probably damaging |
Het |
Gpr62 |
T |
C |
9: 106,341,911 (GRCm39) |
E339G |
probably benign |
Het |
Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
Il19 |
A |
G |
1: 130,863,694 (GRCm39) |
V99A |
possibly damaging |
Het |
Itga9 |
G |
A |
9: 118,465,604 (GRCm39) |
E153K |
probably damaging |
Het |
Itgad |
T |
A |
7: 127,803,732 (GRCm39) |
V42E |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
Mfsd4b2 |
T |
A |
10: 39,798,119 (GRCm39) |
S79C |
probably benign |
Het |
Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
Mthfsd |
G |
A |
8: 121,832,512 (GRCm39) |
T60I |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
Nceh1 |
A |
G |
3: 27,295,504 (GRCm39) |
Y255C |
probably damaging |
Het |
Ncoa2 |
C |
T |
1: 13,257,113 (GRCm39) |
V129I |
probably damaging |
Het |
Ndufb5 |
T |
C |
3: 32,800,600 (GRCm39) |
F58L |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
A |
11: 58,920,844 (GRCm39) |
|
probably null |
Het |
Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
Pias3 |
A |
G |
3: 96,610,853 (GRCm39) |
E377G |
possibly damaging |
Het |
Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,128,526 (GRCm39) |
Q4059R |
probably benign |
Het |
Ppa2 |
A |
T |
3: 133,026,764 (GRCm39) |
|
probably null |
Het |
Proser1 |
G |
A |
3: 53,387,966 (GRCm39) |
A885T |
probably benign |
Het |
Robo2 |
A |
G |
16: 73,758,776 (GRCm39) |
I665T |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Secisbp2 |
G |
A |
13: 51,808,671 (GRCm39) |
|
probably null |
Het |
Setbp1 |
T |
A |
18: 78,967,211 (GRCm39) |
Q171L |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
Srprb |
G |
A |
9: 103,076,038 (GRCm39) |
Q800* |
probably null |
Het |
Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,921,557 (GRCm39) |
T445A |
probably damaging |
Het |
Tdrd12 |
G |
A |
7: 35,184,798 (GRCm39) |
T705M |
probably damaging |
Het |
Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
Timm22 |
G |
A |
11: 76,304,925 (GRCm39) |
A188T |
probably damaging |
Het |
Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
Tmprss12 |
C |
A |
15: 100,180,296 (GRCm39) |
T112K |
possibly damaging |
Het |
U2surp |
A |
G |
9: 95,382,735 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
T |
A |
10: 130,230,036 (GRCm39) |
E25D |
probably benign |
Het |
Wdr62 |
A |
T |
7: 29,960,862 (GRCm39) |
N22K |
possibly damaging |
Het |
Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
possibly 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 |
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 |
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'- TCTTCAGGTCCTGTTGAGTCAGAG -3'
(R):5'- AGGCACACTGAGCAAGACTC -3'
Sequencing Primer
(F):5'- AGTCTGACCAAAGAGCTGC -3'
(R):5'- AAGACTCTTGCAGCTGCC -3'
|
Posted On |
2014-12-04 |