Incidental Mutation 'IGL03304:Mmp1b'
| ID |
416321 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmp1b
|
| Ensembl Gene |
ENSMUSG00000041620 |
| Gene Name |
matrix metallopeptidase 1b (interstitial collagenase) |
| Synonyms |
Mcol-B |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL03304
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
7368239-7388047 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7384701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 282
(D282E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047888]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047888
AA Change: D282E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620
AA Change: D282E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
26 |
84 |
1.4e-13 |
PFAM |
|
ZnMc
|
102 |
260 |
3.08e-46 |
SMART |
|
HX
|
281 |
323 |
4.39e-2 |
SMART |
|
HX
|
325 |
369 |
3.51e-10 |
SMART |
|
HX
|
374 |
421 |
1.03e-16 |
SMART |
|
HX
|
423 |
463 |
1.6e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
A |
T |
9: 106,312,665 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
T |
C |
1: 171,080,438 (GRCm39) |
|
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,469,033 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aoah |
A |
G |
13: 21,099,180 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
A |
T |
18: 80,961,092 (GRCm39) |
Y40N |
probably damaging |
Het |
| Brd8 |
A |
G |
18: 34,747,633 (GRCm39) |
|
probably benign |
Het |
| Cd274 |
A |
C |
19: 29,361,502 (GRCm39) |
E270A |
probably damaging |
Het |
| Cic |
T |
A |
7: 24,984,274 (GRCm39) |
V23E |
probably damaging |
Het |
| Cpeb4 |
T |
C |
11: 31,822,739 (GRCm39) |
L151P |
probably damaging |
Het |
| D3Ertd751e |
G |
A |
3: 41,701,164 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
A |
T |
18: 37,987,626 (GRCm39) |
D1043E |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,841,667 (GRCm39) |
Y534C |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,505,982 (GRCm39) |
N3848I |
probably damaging |
Het |
| Ifi211 |
A |
T |
1: 173,735,273 (GRCm39) |
M52K |
probably damaging |
Het |
| Itih4 |
T |
C |
14: 30,620,006 (GRCm39) |
I747T |
probably damaging |
Het |
| Kifbp |
A |
C |
10: 62,395,082 (GRCm39) |
L520R |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,695 (GRCm39) |
M276V |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,785,137 (GRCm39) |
V265D |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,570,257 (GRCm39) |
L439* |
probably null |
Het |
| Nlrp4e |
T |
A |
7: 23,052,768 (GRCm39) |
|
probably null |
Het |
| Ogfod2 |
A |
T |
5: 124,250,886 (GRCm39) |
D24V |
probably damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,560 (GRCm39) |
L143P |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,080,105 (GRCm39) |
S182P |
probably damaging |
Het |
| Or9s23 |
T |
C |
1: 92,501,025 (GRCm39) |
V44A |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 82,028,803 (GRCm39) |
W1661R |
probably damaging |
Het |
| Pdzph1 |
G |
A |
17: 59,187,641 (GRCm39) |
T1193I |
probably damaging |
Het |
| Pias3 |
A |
G |
3: 96,607,347 (GRCm39) |
T152A |
possibly damaging |
Het |
| Pla2g5 |
A |
T |
4: 138,531,880 (GRCm39) |
Y41* |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,141,986 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2a |
A |
C |
14: 67,253,977 (GRCm39) |
V397G |
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,822,848 (GRCm39) |
|
probably benign |
Het |
| Slc35a3 |
A |
G |
3: 116,480,960 (GRCm39) |
L101P |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,876,505 (GRCm39) |
R295Q |
probably damaging |
Het |
| Syce1 |
A |
T |
7: 140,357,623 (GRCm39) |
V314D |
possibly damaging |
Het |
| Tex52 |
T |
C |
6: 128,356,495 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Tmem63a |
T |
A |
1: 180,796,418 (GRCm39) |
Y580* |
probably null |
Het |
| Ube2m |
T |
A |
7: 12,769,685 (GRCm39) |
|
probably benign |
Het |
| Vmn1r50 |
G |
T |
6: 90,084,625 (GRCm39) |
K123N |
probably damaging |
Het |
|
| Other mutations in Mmp1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Mmp1b
|
APN |
9 |
7,387,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00339:Mmp1b
|
APN |
9 |
7,368,304 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL00832:Mmp1b
|
APN |
9 |
7,387,023 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01110:Mmp1b
|
APN |
9 |
7,384,921 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02121:Mmp1b
|
APN |
9 |
7,384,935 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02143:Mmp1b
|
APN |
9 |
7,386,400 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02698:Mmp1b
|
APN |
9 |
7,384,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02928:Mmp1b
|
APN |
9 |
7,368,242 (GRCm39) |
makesense |
probably null |
|
|
IGL03218:Mmp1b
|
APN |
9 |
7,387,907 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02802:Mmp1b
|
UTSW |
9 |
7,384,709 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0122:Mmp1b
|
UTSW |
9 |
7,386,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0506:Mmp1b
|
UTSW |
9 |
7,387,013 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0600:Mmp1b
|
UTSW |
9 |
7,387,947 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1454:Mmp1b
|
UTSW |
9 |
7,386,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Mmp1b
|
UTSW |
9 |
7,384,779 (GRCm39) |
splice site |
probably benign |
|
|
R1696:Mmp1b
|
UTSW |
9 |
7,386,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1837:Mmp1b
|
UTSW |
9 |
7,386,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Mmp1b
|
UTSW |
9 |
7,368,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2031:Mmp1b
|
UTSW |
9 |
7,368,607 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2098:Mmp1b
|
UTSW |
9 |
7,386,984 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2107:Mmp1b
|
UTSW |
9 |
7,369,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2847:Mmp1b
|
UTSW |
9 |
7,370,763 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2870:Mmp1b
|
UTSW |
9 |
7,386,875 (GRCm39) |
synonymous |
silent |
|
|
R3944:Mmp1b
|
UTSW |
9 |
7,384,708 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4654:Mmp1b
|
UTSW |
9 |
7,370,849 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4829:Mmp1b
|
UTSW |
9 |
7,370,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5329:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5332:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5333:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5418:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5419:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5420:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6053:Mmp1b
|
UTSW |
9 |
7,385,031 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6394:Mmp1b
|
UTSW |
9 |
7,386,316 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6774:Mmp1b
|
UTSW |
9 |
7,387,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6842:Mmp1b
|
UTSW |
9 |
7,384,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Mmp1b
|
UTSW |
9 |
7,386,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Mmp1b
|
UTSW |
9 |
7,385,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Mmp1b
|
UTSW |
9 |
7,384,753 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7658:Mmp1b
|
UTSW |
9 |
7,386,675 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8952:Mmp1b
|
UTSW |
9 |
7,386,346 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9036:Mmp1b
|
UTSW |
9 |
7,387,909 (GRCm39) |
missense |
probably null |
0.25 |
|
R9349:Mmp1b
|
UTSW |
9 |
7,369,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Mmp1b
|
UTSW |
9 |
7,369,322 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation