Incidental Mutation 'R1679:Emilin1'
| ID |
188343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emilin1
|
| Ensembl Gene |
ENSMUSG00000029163 |
| Gene Name |
elastin microfibril interfacer 1 |
| Synonyms |
gp115, 5830419M17Rik, EMILIN-1 |
| MMRRC Submission |
039715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R1679 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31070746-31078621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31077543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 900
(Y900H)
|
| 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: Y900H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: Y900H
| 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 |
0.2351 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Adam6a |
A |
G |
12: 113,508,376 (GRCm39) |
M250V |
probably benign |
Het |
| Adgre5 |
C |
A |
8: 84,456,034 (GRCm39) |
R254L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,707,671 (GRCm39) |
L525Q |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,688,210 (GRCm39) |
I205F |
probably benign |
Het |
| Bmp5 |
T |
C |
9: 75,746,877 (GRCm39) |
V245A |
probably benign |
Het |
| Capn8 |
T |
C |
1: 182,441,032 (GRCm39) |
S489P |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,533,316 (GRCm39) |
L76P |
probably damaging |
Het |
| Cd164l2 |
A |
G |
4: 132,948,810 (GRCm39) |
T49A |
probably benign |
Het |
| Cdc25c |
T |
C |
18: 34,880,348 (GRCm39) |
T129A |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,761,553 (GRCm39) |
D847G |
probably benign |
Het |
| Crim1 |
G |
A |
17: 78,508,228 (GRCm39) |
A11T |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,832,082 (GRCm39) |
L1449H |
possibly damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,736 (GRCm39) |
K276* |
probably null |
Het |
| Cyp2c50 |
C |
A |
19: 40,099,859 (GRCm39) |
T430K |
possibly damaging |
Het |
| Ddb2 |
C |
T |
2: 91,064,595 (GRCm39) |
R105Q |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,914,001 (GRCm39) |
F100L |
probably damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,940,970 (GRCm39) |
G542D |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,041,843 (GRCm39) |
|
probably null |
Het |
| Gm21886 |
T |
C |
18: 80,132,954 (GRCm39) |
Y68C |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,784,492 (GRCm39) |
|
probably benign |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,382,320 (GRCm39) |
T211A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,872,778 (GRCm39) |
D16G |
unknown |
Het |
| Isg20l2 |
T |
A |
3: 87,839,392 (GRCm39) |
M201K |
probably damaging |
Het |
| Kansl1 |
A |
T |
11: 104,314,822 (GRCm39) |
S405R |
probably damaging |
Het |
| Kdsr |
T |
A |
1: 106,680,956 (GRCm39) |
I81F |
probably benign |
Het |
| Leprotl1 |
T |
G |
8: 34,607,986 (GRCm39) |
L7F |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mtmr2 |
T |
A |
9: 13,700,373 (GRCm39) |
I60K |
probably damaging |
Het |
| Mto1 |
A |
G |
9: 78,372,245 (GRCm39) |
T572A |
probably benign |
Het |
| Nipbl |
G |
A |
15: 8,332,396 (GRCm39) |
T2287I |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,422 (GRCm39) |
T40A |
probably benign |
Het |
| Nxf1 |
T |
C |
19: 8,746,438 (GRCm39) |
S550P |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,859 (GRCm39) |
N286I |
probably damaging |
Het |
| Phactr1 |
G |
A |
13: 43,210,756 (GRCm39) |
V193I |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,248,257 (GRCm39) |
Y317F |
possibly damaging |
Het |
| Pih1d1 |
T |
C |
7: 44,809,250 (GRCm39) |
|
probably null |
Het |
| Rictor |
T |
C |
15: 6,797,571 (GRCm39) |
I309T |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
T |
C |
7: 45,074,391 (GRCm39) |
D216G |
probably damaging |
Het |
| Slc20a2 |
T |
G |
8: 23,028,846 (GRCm39) |
S106A |
possibly damaging |
Het |
| Srprb |
A |
G |
9: 103,069,406 (GRCm39) |
|
probably benign |
Het |
| Stx11 |
A |
T |
10: 12,817,580 (GRCm39) |
I48N |
probably damaging |
Het |
| Vmn1r29 |
A |
T |
6: 58,285,003 (GRCm39) |
Y241F |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,685,192 (GRCm39) |
C347* |
probably null |
Het |
| Zfp683 |
T |
C |
4: 133,785,956 (GRCm39) |
V361A |
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 |
|
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 |
|
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'- AAGTCGTTAGACTCTGGAAGGGGC -3'
(R):5'- ACTGTAGGAATCCCCTGCTGCATC -3'
Sequencing Primer
(F):5'- CCTGGGCAGCAGGGATG -3'
(R):5'- TGTCCCAGTAAAGATCCGTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation