Incidental Mutation 'R6358:Emilin1'
| ID |
513329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emilin1
|
| Ensembl Gene |
ENSMUSG00000029163 |
| Gene Name |
elastin microfibril interfacer 1 |
| Synonyms |
gp115, 5830419M17Rik, EMILIN-1 |
| MMRRC Submission |
044508-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R6358 (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 G
at 31075562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 601
(E601G)
|
| 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 damaging
Transcript: ENSMUST00000031055
AA Change: E601G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: E601G
| 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 |
0.0790 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
C |
8: 41,279,718 (GRCm39) |
V703A |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,562,702 (GRCm39) |
Q5389L |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,566,122 (GRCm39) |
I42N |
possibly damaging |
Het |
| Ankrd28 |
A |
C |
14: 31,432,821 (GRCm39) |
C575W |
probably damaging |
Het |
| Car14 |
T |
A |
3: 95,805,487 (GRCm39) |
T329S |
possibly damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,884,359 (GRCm39) |
F1298S |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,070,028 (GRCm39) |
I341T |
probably benign |
Het |
| D5Ertd579e |
T |
A |
5: 36,773,580 (GRCm39) |
|
probably null |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,770 (GRCm39) |
E139G |
unknown |
Het |
| Erbin |
T |
A |
13: 103,982,073 (GRCm39) |
Q456L |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,151,618 (GRCm39) |
V405A |
probably benign |
Het |
| Gm10220 |
C |
G |
5: 26,325,303 (GRCm39) |
|
probably null |
Het |
| Gm527 |
A |
T |
12: 64,970,322 (GRCm39) |
H219L |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,503,104 (GRCm39) |
M1K |
probably null |
Het |
| H2-DMa |
T |
A |
17: 34,356,958 (GRCm39) |
L152H |
probably damaging |
Het |
| Hsd3b7 |
T |
A |
7: 127,400,709 (GRCm39) |
H54Q |
probably damaging |
Het |
| Hspa12b |
T |
C |
2: 130,978,986 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,880,619 (GRCm39) |
T1006K |
possibly damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,061,718 (GRCm39) |
V1357A |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,958,268 (GRCm39) |
M606V |
probably damaging |
Het |
| Mia |
T |
C |
7: 26,880,403 (GRCm39) |
D24G |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,849,409 (GRCm39) |
L1297Q |
probably damaging |
Het |
| Musk |
T |
A |
4: 58,373,171 (GRCm39) |
S691T |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,203,294 (GRCm39) |
E1463D |
possibly damaging |
Het |
| Ndufs6 |
C |
T |
13: 73,468,438 (GRCm39) |
G87D |
probably damaging |
Het |
| Npnt |
C |
T |
3: 132,610,479 (GRCm39) |
V415I |
probably benign |
Het |
| Ntsr2 |
A |
G |
12: 16,706,769 (GRCm39) |
I266V |
probably benign |
Het |
| Or11j4 |
A |
T |
14: 50,630,845 (GRCm39) |
I211F |
possibly damaging |
Het |
| Or5aq7 |
T |
C |
2: 86,938,778 (GRCm39) |
|
probably benign |
Het |
| Pkmyt1 |
T |
A |
17: 23,952,630 (GRCm39) |
|
probably null |
Het |
| Polr1e |
T |
C |
4: 45,026,813 (GRCm39) |
L166P |
probably damaging |
Het |
| Ppib |
T |
G |
9: 65,968,756 (GRCm39) |
F48C |
probably damaging |
Het |
| Ppl |
C |
A |
16: 4,905,793 (GRCm39) |
E1501* |
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,382,321 (GRCm39) |
V384A |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,661,503 (GRCm39) |
S1212R |
probably damaging |
Het |
| Ralb |
C |
A |
1: 119,403,735 (GRCm39) |
D131Y |
probably damaging |
Het |
| Rfx4 |
T |
A |
10: 84,680,099 (GRCm39) |
M141K |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,156,105 (GRCm39) |
|
probably null |
Het |
| Rpl27 |
A |
G |
11: 101,334,782 (GRCm39) |
|
probably benign |
Het |
| Sdc1 |
A |
C |
12: 8,841,297 (GRCm39) |
T213P |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,061,360 (GRCm39) |
N2256K |
possibly damaging |
Het |
| Shank2 |
A |
G |
7: 143,585,034 (GRCm39) |
M12V |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,049,253 (GRCm39) |
K332M |
probably damaging |
Het |
| Slf2 |
A |
T |
19: 44,923,864 (GRCm39) |
H226L |
probably benign |
Het |
| Tbc1d10b |
T |
C |
7: 126,802,584 (GRCm39) |
S362G |
probably benign |
Het |
| Tbxas1 |
G |
A |
6: 38,929,046 (GRCm39) |
|
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,399,575 (GRCm39) |
V83A |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,885,583 (GRCm39) |
E375G |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,172,273 (GRCm39) |
Y247* |
probably null |
Het |
| Tmem167b |
C |
T |
3: 108,466,211 (GRCm39) |
R79H |
possibly damaging |
Het |
| Tmprss7 |
T |
G |
16: 45,489,936 (GRCm39) |
M429L |
probably benign |
Het |
| Tnfsf18 |
T |
A |
1: 161,331,148 (GRCm39) |
D99E |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,713,736 (GRCm39) |
S2534T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,897,968 (GRCm39) |
E872G |
probably damaging |
Het |
| Tomm40l |
C |
T |
1: 171,047,206 (GRCm39) |
V237I |
possibly damaging |
Het |
| Trbv2 |
A |
G |
6: 41,024,836 (GRCm39) |
Q84R |
probably benign |
Het |
| Tspan18 |
T |
C |
2: 93,040,219 (GRCm39) |
R179G |
probably benign |
Het |
| Tspan8 |
G |
T |
10: 115,669,132 (GRCm39) |
V56L |
probably benign |
Het |
| Zbtb22 |
T |
C |
17: 34,137,711 (GRCm39) |
S619P |
probably damaging |
Het |
| Zfp2 |
A |
T |
11: 50,791,428 (GRCm39) |
I205N |
probably damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,063,850 (GRCm39) |
|
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 |
|
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'- GTTACAGCTAGTGGGCTCTG -3'
(R):5'- TGAGTCGTTCAGGGAGCTGAAG -3'
Sequencing Primer
(F):5'- ACTGCAAGGGCTCCTGAG -3'
(R):5'- GGTGAGAATAACCTCAGAGAGTTCTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation