Incidental Mutation 'IGL03350:Ecm2'
| ID |
419686 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ecm2
|
| Ensembl Gene |
ENSMUSG00000043631 |
| Gene Name |
extracellular matrix protein 2, female organ and adipocyte specific |
| Synonyms |
tenonectin, 9030618O22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
IGL03350
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49658286-49686265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 49674420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 280
(T280I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021818]
[ENSMUST00000051504]
|
| AlphaFold |
Q5FW85 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021818
|
| SMART Domains |
Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:CENP-P
|
102 |
278 |
3.9e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051504
AA Change: T280I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: T280I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
VWC
|
98 |
152 |
1.37e-11 |
SMART |
|
coiled coil region
|
235 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
LRR
|
314 |
336 |
1.41e2 |
SMART |
|
LRR
|
337 |
362 |
1.76e-1 |
SMART |
|
LRR
|
363 |
386 |
5.41e0 |
SMART |
|
LRR
|
408 |
433 |
1.91e1 |
SMART |
|
LRR
|
434 |
457 |
4.98e-1 |
SMART |
|
LRR
|
459 |
478 |
8.03e1 |
SMART |
|
LRR
|
506 |
528 |
2.76e1 |
SMART |
|
LRR
|
529 |
549 |
1.19e2 |
SMART |
|
LRR
|
578 |
600 |
1.81e1 |
SMART |
|
LRR
|
601 |
624 |
9.48e0 |
SMART |
|
LRR
|
631 |
655 |
6.06e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222592
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,022,589 (GRCm39) |
Y300* |
probably null |
Het |
| Adgre1 |
T |
A |
17: 57,708,908 (GRCm39) |
V33E |
probably benign |
Het |
| AI987944 |
A |
G |
7: 41,042,661 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
T |
C |
7: 30,420,292 (GRCm39) |
L813P |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,862,774 (GRCm39) |
N396D |
probably damaging |
Het |
| Brat1 |
T |
C |
5: 140,691,750 (GRCm39) |
L9P |
probably damaging |
Het |
| Ccdc171 |
T |
C |
4: 83,599,615 (GRCm39) |
I810T |
possibly damaging |
Het |
| Clec2m |
C |
A |
6: 129,307,986 (GRCm39) |
V28L |
probably benign |
Het |
| Cyp2a22 |
T |
C |
7: 26,634,279 (GRCm39) |
T292A |
possibly damaging |
Het |
| Fa2h |
C |
T |
8: 112,075,928 (GRCm39) |
V232I |
probably benign |
Het |
| Fbxw24 |
T |
C |
9: 109,436,081 (GRCm39) |
D317G |
probably damaging |
Het |
| Flt4 |
C |
A |
11: 49,525,620 (GRCm39) |
S722* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,290,649 (GRCm39) |
Q85R |
probably damaging |
Het |
| Gm3239 |
A |
G |
14: 15,882,083 (GRCm39) |
R188G |
possibly damaging |
Het |
| Hspa13 |
A |
T |
16: 75,554,717 (GRCm39) |
S456R |
probably damaging |
Het |
| Htr1b |
T |
C |
9: 81,514,175 (GRCm39) |
Y144C |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,038,856 (GRCm39) |
H198R |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,854,952 (GRCm39) |
M953K |
probably benign |
Het |
| Lgr5 |
G |
T |
10: 115,307,893 (GRCm39) |
T255K |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,268,797 (GRCm39) |
D4162V |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,345,201 (GRCm39) |
D342G |
probably damaging |
Het |
| Miip |
A |
G |
4: 147,946,979 (GRCm39) |
V258A |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,238,324 (GRCm39) |
H52R |
probably damaging |
Het |
| Nfs1 |
T |
C |
2: 155,969,660 (GRCm39) |
E329G |
probably benign |
Het |
| Npsr1 |
T |
C |
9: 24,009,605 (GRCm39) |
V37A |
probably benign |
Het |
| Or1ak2 |
T |
C |
2: 36,827,595 (GRCm39) |
Y155H |
probably damaging |
Het |
| Or1e17 |
A |
T |
11: 73,831,664 (GRCm39) |
L197F |
probably damaging |
Het |
| Or5aq1b |
A |
C |
2: 86,901,904 (GRCm39) |
D191E |
probably damaging |
Het |
| Pex16 |
T |
A |
2: 92,207,842 (GRCm39) |
M98K |
probably damaging |
Het |
| Pla2r1 |
C |
T |
2: 60,285,517 (GRCm39) |
C699Y |
probably damaging |
Het |
| Plcd4 |
A |
T |
1: 74,588,460 (GRCm39) |
D103V |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,095,966 (GRCm39) |
D129G |
probably damaging |
Het |
| Rad23a |
T |
C |
8: 85,564,108 (GRCm39) |
E265G |
possibly damaging |
Het |
| Rbm11 |
C |
T |
16: 75,397,696 (GRCm39) |
P209S |
probably benign |
Het |
| Ribc2 |
T |
A |
15: 85,019,703 (GRCm39) |
W162R |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,504,204 (GRCm39) |
E32G |
possibly damaging |
Het |
| Rpe65 |
A |
T |
3: 159,320,154 (GRCm39) |
S269C |
possibly damaging |
Het |
| Slc7a14 |
T |
A |
3: 31,291,558 (GRCm39) |
Y240F |
probably benign |
Het |
| Sorbs2 |
C |
T |
8: 46,258,844 (GRCm39) |
P1047L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,580,166 (GRCm39) |
I23576V |
probably damaging |
Het |
| Usp24 |
T |
G |
4: 106,228,276 (GRCm39) |
Y780* |
probably null |
Het |
| Wee2 |
T |
C |
6: 40,426,665 (GRCm39) |
S145P |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,931,188 (GRCm39) |
T126A |
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,061,692 (GRCm39) |
|
probably benign |
Het |
| Zup1 |
G |
A |
10: 33,804,107 (GRCm39) |
R456C |
probably benign |
Het |
|
| Other mutations in Ecm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00677:Ecm2
|
APN |
13 |
49,684,794 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01685:Ecm2
|
APN |
13 |
49,682,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02070:Ecm2
|
APN |
13 |
49,671,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02108:Ecm2
|
APN |
13 |
49,671,920 (GRCm39) |
nonsense |
probably null |
|
|
IGL02138:Ecm2
|
APN |
13 |
49,676,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Ecm2
|
APN |
13 |
49,671,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0049:Ecm2
|
UTSW |
13 |
49,677,922 (GRCm39) |
nonsense |
probably null |
|
|
R0049:Ecm2
|
UTSW |
13 |
49,677,922 (GRCm39) |
nonsense |
probably null |
|
|
R0627:Ecm2
|
UTSW |
13 |
49,674,559 (GRCm39) |
splice site |
probably benign |
|
|
R1515:Ecm2
|
UTSW |
13 |
49,671,808 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1864:Ecm2
|
UTSW |
13 |
49,683,621 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1865:Ecm2
|
UTSW |
13 |
49,683,621 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1991:Ecm2
|
UTSW |
13 |
49,683,732 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2103:Ecm2
|
UTSW |
13 |
49,683,732 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2181:Ecm2
|
UTSW |
13 |
49,683,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Ecm2
|
UTSW |
13 |
49,683,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Ecm2
|
UTSW |
13 |
49,683,605 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4856:Ecm2
|
UTSW |
13 |
49,676,263 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4867:Ecm2
|
UTSW |
13 |
49,684,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4886:Ecm2
|
UTSW |
13 |
49,676,263 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5368:Ecm2
|
UTSW |
13 |
49,674,419 (GRCm39) |
missense |
probably benign |
|
|
R5420:Ecm2
|
UTSW |
13 |
49,681,210 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6084:Ecm2
|
UTSW |
13 |
49,668,570 (GRCm39) |
nonsense |
probably null |
|
|
R6244:Ecm2
|
UTSW |
13 |
49,683,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6881:Ecm2
|
UTSW |
13 |
49,683,818 (GRCm39) |
nonsense |
probably null |
|
|
R6931:Ecm2
|
UTSW |
13 |
49,682,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7085:Ecm2
|
UTSW |
13 |
49,674,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7347:Ecm2
|
UTSW |
13 |
49,668,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7490:Ecm2
|
UTSW |
13 |
49,683,818 (GRCm39) |
nonsense |
probably null |
|
|
R8039:Ecm2
|
UTSW |
13 |
49,668,326 (GRCm39) |
missense |
probably benign |
|
|
R8131:Ecm2
|
UTSW |
13 |
49,671,940 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8333:Ecm2
|
UTSW |
13 |
49,671,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8345:Ecm2
|
UTSW |
13 |
49,674,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9042:Ecm2
|
UTSW |
13 |
49,682,439 (GRCm39) |
nonsense |
probably null |
|
|
R9286:Ecm2
|
UTSW |
13 |
49,683,696 (GRCm39) |
missense |
|
|
|
R9334:Ecm2
|
UTSW |
13 |
49,677,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9390:Ecm2
|
UTSW |
13 |
49,683,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9610:Ecm2
|
UTSW |
13 |
49,681,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Ecm2
|
UTSW |
13 |
49,668,518 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9611:Ecm2
|
UTSW |
13 |
49,681,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Ecm2
|
UTSW |
13 |
49,668,518 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Posted On |
2016-08-02 |
Incidental Mutation