Incidental Mutation 'R5861:Ecm1'
| ID |
453890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ecm1
|
| Ensembl Gene |
ENSMUSG00000028108 |
| Gene Name |
extracellular matrix protein 1 |
| Synonyms |
p85 |
| MMRRC Submission |
044073-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R5861 (G1)
|
| Quality Score |
117 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95641459-95646880 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 95643909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 230
(L230V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029752]
[ENSMUST00000029753]
[ENSMUST00000074339]
[ENSMUST00000117507]
[ENSMUST00000123143]
[ENSMUST00000128885]
[ENSMUST00000131376]
[ENSMUST00000196077]
[ENSMUST00000199464]
[ENSMUST00000163530]
[ENSMUST00000137912]
[ENSMUST00000147217]
[ENSMUST00000153026]
|
| AlphaFold |
Q61508 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029752
|
| SMART Domains |
Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGS
|
66 |
126 |
5.6e-14 |
PFAM |
|
tRNA_SAD
|
233 |
282 |
1.15e-10 |
SMART |
|
Pfam:tRNA-synt_2b
|
400 |
608 |
2.4e-32 |
PFAM |
|
Pfam:HGTP_anticodon
|
620 |
711 |
1.5e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029753
AA Change: L213V
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029753
Gene: ENSMUSG00000028108
AA Change: L213V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECM1
|
1 |
558 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074339
|
| SMART Domains |
Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGS
|
66 |
126 |
1.3e-15 |
PFAM |
|
tRNA_SAD
|
233 |
282 |
1.15e-10 |
SMART |
|
Pfam:tRNA-synt_2b
|
336 |
519 |
2.8e-39 |
PFAM |
|
Pfam:HGTP_anticodon
|
594 |
685 |
5.4e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117507
AA Change: L214V
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112665
Gene: ENSMUSG00000028108
AA Change: L214V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECM1
|
1 |
559 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123143
AA Change: L197V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120300
Gene: ENSMUSG00000028108
AA Change: L197V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECM1
|
1 |
266 |
4.4e-132 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128885
AA Change: L206V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120820
Gene: ENSMUSG00000028108
AA Change: L206V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECM1
|
1 |
251 |
1.5e-135 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131376
AA Change: L230V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114659
Gene: ENSMUSG00000028108
AA Change: L230V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECM1
|
1 |
295 |
4.2e-146 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200376
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155815
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199869
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196077
|
| SMART Domains |
Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGS
|
65 |
125 |
5e-13 |
PFAM |
|
tRNA_SAD
|
232 |
264 |
7.5e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199464
|
| SMART Domains |
Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGS
|
66 |
126 |
1.1e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163530
|
| SMART Domains |
Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGS
|
66 |
126 |
2.6e-15 |
PFAM |
|
tRNA_SAD
|
152 |
201 |
1.15e-10 |
SMART |
|
Pfam:tRNA-synt_2b
|
255 |
438 |
8.6e-40 |
PFAM |
|
Pfam:HGTP_anticodon
|
539 |
630 |
1.6e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137912
|
| SMART Domains |
Protein: ENSMUSP00000122243
Gene: ENSMUSG00000028108
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECM1
|
1 |
140 |
1.8e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147217
|
| SMART Domains |
Protein: ENSMUSP00000115524
Gene: ENSMUSG00000028108
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECM1
|
1 |
80 |
5.2e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153026
|
| SMART Domains |
Protein: ENSMUSP00000114747
Gene: ENSMUSG00000028108
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECM1
|
1 |
230 |
1.3e-100 |
PFAM |
|
| Meta Mutation Damage Score |
0.5550 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.3%
|
| Validation Efficiency |
98% (81/83) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit auto-inflammatory disease and do not survive beyond 6 to 8 weeks of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
T |
16: 20,218,644 (GRCm39) |
T246N |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,446,626 (GRCm39) |
D143G |
probably damaging |
Het |
| Arhgap10 |
C |
T |
8: 78,037,393 (GRCm39) |
A612T |
probably damaging |
Het |
| Arsg |
T |
A |
11: 109,454,014 (GRCm39) |
F407I |
probably damaging |
Het |
| Asxl1 |
C |
A |
2: 153,241,310 (GRCm39) |
A620D |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,093,682 (GRCm39) |
|
probably benign |
Het |
| Chn2 |
G |
A |
6: 54,267,359 (GRCm39) |
V92I |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,264,617 (GRCm39) |
F332S |
probably damaging |
Het |
| Crhbp |
G |
A |
13: 95,580,333 (GRCm39) |
A82V |
probably damaging |
Het |
| Cyp2j6 |
A |
G |
4: 96,434,040 (GRCm39) |
V90A |
possibly damaging |
Het |
| Dennd4c |
A |
T |
4: 86,709,589 (GRCm39) |
M397L |
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,088 (GRCm39) |
D208G |
possibly damaging |
Het |
| Ercc2 |
G |
C |
7: 19,128,066 (GRCm39) |
A696P |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm13035 |
A |
G |
4: 146,009,859 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28042 |
T |
C |
2: 119,865,116 (GRCm39) |
V247A |
probably damaging |
Het |
| Gm28455 |
T |
A |
7: 39,148,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr150 |
A |
T |
13: 76,204,192 (GRCm39) |
V251D |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,765,875 (GRCm39) |
S69L |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,376,265 (GRCm39) |
I147V |
possibly damaging |
Het |
| Il5 |
G |
A |
11: 53,614,743 (GRCm39) |
E102K |
probably benign |
Het |
| Kif1c |
T |
C |
11: 70,594,621 (GRCm39) |
F94L |
probably damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,344,806 (GRCm39) |
E427G |
possibly damaging |
Het |
| Man1b1 |
A |
G |
2: 25,238,066 (GRCm39) |
T384A |
probably benign |
Het |
| Mapk15 |
C |
A |
15: 75,868,208 (GRCm39) |
|
probably benign |
Het |
| Mfsd10 |
T |
C |
5: 34,791,588 (GRCm39) |
|
probably benign |
Het |
| Mgat5 |
C |
A |
1: 127,315,129 (GRCm39) |
A285E |
probably damaging |
Het |
| Mroh4 |
T |
A |
15: 74,478,456 (GRCm39) |
|
probably benign |
Het |
| Myf5 |
A |
T |
10: 107,320,069 (GRCm39) |
C194S |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,226,347 (GRCm39) |
V431A |
possibly damaging |
Het |
| Nadsyn1 |
A |
C |
7: 143,364,964 (GRCm39) |
M247R |
possibly damaging |
Het |
| Nipsnap3b |
A |
G |
4: 53,021,177 (GRCm39) |
D166G |
probably damaging |
Het |
| Nqo2 |
A |
T |
13: 34,156,413 (GRCm39) |
L42F |
probably damaging |
Het |
| Nt5dc3 |
A |
T |
10: 86,651,738 (GRCm39) |
D180V |
probably damaging |
Het |
| Numa1 |
C |
A |
7: 101,658,494 (GRCm39) |
|
probably null |
Het |
| Olfm3 |
T |
A |
3: 114,916,052 (GRCm39) |
L328Q |
probably damaging |
Het |
| Or4e1 |
T |
C |
14: 52,700,953 (GRCm39) |
Y171C |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,922 (GRCm39) |
N138K |
probably benign |
Het |
| Or7a37 |
A |
T |
10: 78,805,765 (GRCm39) |
Y94F |
probably damaging |
Het |
| Papolb |
T |
C |
5: 142,514,992 (GRCm39) |
N217S |
possibly damaging |
Het |
| Pcmtd2 |
C |
A |
2: 181,484,268 (GRCm39) |
T26K |
probably damaging |
Het |
| Pld5 |
T |
G |
1: 175,917,571 (GRCm39) |
N59H |
probably damaging |
Het |
| Ppm1d |
T |
C |
11: 85,202,674 (GRCm39) |
S126P |
possibly damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,889,937 (GRCm39) |
L727P |
probably damaging |
Het |
| Pramel20 |
G |
T |
4: 143,297,810 (GRCm39) |
V77L |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
| Rara |
T |
A |
11: 98,858,987 (GRCm39) |
C148* |
probably null |
Het |
| Rexo2 |
A |
T |
9: 48,386,481 (GRCm39) |
I83N |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,364,203 (GRCm39) |
R4501G |
probably damaging |
Het |
| Rps5 |
T |
A |
7: 12,659,501 (GRCm39) |
F97L |
probably damaging |
Het |
| Sigirr |
G |
A |
7: 140,671,292 (GRCm39) |
R397W |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,718,014 (GRCm39) |
Y318H |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,570 (GRCm39) |
T174A |
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,632,116 (GRCm39) |
|
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,868,337 (GRCm39) |
E348G |
probably benign |
Het |
| Taf11 |
T |
C |
17: 28,120,644 (GRCm39) |
T209A |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,492,424 (GRCm39) |
|
probably benign |
Het |
| Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
| Trim5 |
G |
T |
7: 103,928,726 (GRCm39) |
H72N |
probably benign |
Het |
| Trim5 |
A |
C |
7: 103,928,728 (GRCm39) |
L71R |
probably benign |
Het |
| Uevld |
A |
T |
7: 46,576,104 (GRCm39) |
S461T |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,454 (GRCm39) |
N460I |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zfp316 |
T |
C |
5: 143,249,095 (GRCm39) |
Y180C |
unknown |
Het |
| Zfp941 |
A |
G |
7: 140,392,052 (GRCm39) |
S436P |
probably damaging |
Het |
| Zfp979 |
G |
A |
4: 147,697,966 (GRCm39) |
Q248* |
probably null |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably damaging |
Het |
|
| Other mutations in Ecm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01634:Ecm1
|
APN |
3 |
95,642,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01686:Ecm1
|
APN |
3 |
95,643,376 (GRCm39) |
missense |
probably benign |
|
|
IGL01807:Ecm1
|
APN |
3 |
95,643,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Ecm1
|
APN |
3 |
95,641,586 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02006:Ecm1
|
APN |
3 |
95,641,557 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02134:Ecm1
|
APN |
3 |
95,643,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02210:Ecm1
|
APN |
3 |
95,643,289 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02813:Ecm1
|
APN |
3 |
95,644,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02959:Ecm1
|
APN |
3 |
95,644,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Ecm1
|
UTSW |
3 |
95,644,369 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0963:Ecm1
|
UTSW |
3 |
95,643,900 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1181:Ecm1
|
UTSW |
3 |
95,642,662 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1230:Ecm1
|
UTSW |
3 |
95,642,738 (GRCm39) |
splice site |
probably null |
|
|
R1483:Ecm1
|
UTSW |
3 |
95,643,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Ecm1
|
UTSW |
3 |
95,643,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Ecm1
|
UTSW |
3 |
95,643,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1561:Ecm1
|
UTSW |
3 |
95,643,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1562:Ecm1
|
UTSW |
3 |
95,643,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1590:Ecm1
|
UTSW |
3 |
95,643,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Ecm1
|
UTSW |
3 |
95,643,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2110:Ecm1
|
UTSW |
3 |
95,643,254 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3236:Ecm1
|
UTSW |
3 |
95,642,158 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3897:Ecm1
|
UTSW |
3 |
95,643,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4084:Ecm1
|
UTSW |
3 |
95,641,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4770:Ecm1
|
UTSW |
3 |
95,645,273 (GRCm39) |
unclassified |
probably benign |
|
|
R4985:Ecm1
|
UTSW |
3 |
95,643,415 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5506:Ecm1
|
UTSW |
3 |
95,643,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7472:Ecm1
|
UTSW |
3 |
95,642,632 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7678:Ecm1
|
UTSW |
3 |
95,643,494 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7704:Ecm1
|
UTSW |
3 |
95,643,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7864:Ecm1
|
UTSW |
3 |
95,641,689 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1088:Ecm1
|
UTSW |
3 |
95,642,188 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ecm1
|
UTSW |
3 |
95,642,188 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ecm1
|
UTSW |
3 |
95,642,188 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACCTGTGCTCCATCTGTAC -3'
(R):5'- GTTCCAGTGAAGCCACACAC -3'
Sequencing Primer
(F):5'- ATCTGTACCCCGGGTGAAGTG -3'
(R):5'- GTGAAGCCACACACCTTGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation