Incidental Mutation 'IGL03218:Mmp1b'
| ID |
413551 |
| 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: 0.070)
|
| Stock # |
IGL03218
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
7368239-7388047 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7387907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 29
(V29A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047888]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047888
AA Change: V29A
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620
AA Change: V29A
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,561,727 (GRCm39) |
|
probably null |
Het |
| Acot9 |
T |
A |
X: 154,078,207 (GRCm39) |
V251E |
possibly damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,648,021 (GRCm39) |
S600P |
possibly damaging |
Het |
| Amfr |
A |
T |
8: 94,726,964 (GRCm39) |
M157K |
probably damaging |
Het |
| Arvcf |
T |
C |
16: 18,222,875 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,699,949 (GRCm39) |
V1924A |
possibly damaging |
Het |
| Atp10a |
T |
A |
7: 58,438,196 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
T |
A |
1: 172,116,870 (GRCm39) |
E249V |
probably null |
Het |
| C1qc |
A |
G |
4: 136,617,598 (GRCm39) |
L166P |
probably damaging |
Het |
| Col4a3 |
C |
A |
1: 82,620,927 (GRCm39) |
|
probably benign |
Het |
| Def8 |
A |
G |
8: 124,183,175 (GRCm39) |
D258G |
probably damaging |
Het |
| Dll1 |
T |
C |
17: 15,593,830 (GRCm39) |
D179G |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,582,834 (GRCm39) |
H3124Q |
probably benign |
Het |
| Fabp5 |
T |
A |
3: 10,080,023 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
C |
T |
5: 3,604,684 (GRCm39) |
Q24* |
probably null |
Het |
| Fam13c |
A |
C |
10: 70,284,599 (GRCm39) |
D25A |
possibly damaging |
Het |
| Flna |
A |
G |
X: 73,278,208 (GRCm39) |
|
probably null |
Het |
| Frem1 |
T |
A |
4: 82,832,883 (GRCm39) |
T1917S |
probably benign |
Het |
| Frmd4b |
T |
C |
6: 97,285,075 (GRCm39) |
T337A |
probably benign |
Het |
| Fxyd7 |
C |
T |
7: 30,743,995 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
T |
G |
2: 57,889,401 (GRCm39) |
S334A |
possibly damaging |
Het |
| Gm10220 |
T |
C |
5: 26,323,696 (GRCm39) |
K117R |
probably damaging |
Het |
| Gpd2 |
T |
A |
2: 57,197,066 (GRCm39) |
L207H |
probably damaging |
Het |
| H2-M10.3 |
T |
A |
17: 36,678,279 (GRCm39) |
Y182F |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,115,836 (GRCm39) |
I1018V |
possibly damaging |
Het |
| Letmd1 |
T |
C |
15: 100,367,709 (GRCm39) |
F89S |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,318,567 (GRCm39) |
Y696C |
probably damaging |
Het |
| Mcpt9 |
A |
G |
14: 56,264,908 (GRCm39) |
Y198H |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,391,311 (GRCm39) |
D940G |
possibly damaging |
Het |
| Myzap |
A |
G |
9: 71,462,871 (GRCm39) |
M225T |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,564,133 (GRCm39) |
Y516C |
probably damaging |
Het |
| Nsdhl |
T |
A |
X: 72,000,052 (GRCm39) |
|
probably benign |
Het |
| Olfml1 |
A |
G |
7: 107,170,476 (GRCm39) |
E121G |
possibly damaging |
Het |
| Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,935 (GRCm39) |
V45A |
probably benign |
Het |
| Or8k38 |
A |
G |
2: 86,488,703 (GRCm39) |
I33T |
probably benign |
Het |
| Phex |
C |
T |
X: 155,961,783 (GRCm39) |
G636E |
probably damaging |
Het |
| Pkd2l2 |
A |
T |
18: 34,563,373 (GRCm39) |
I475F |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,463,764 (GRCm39) |
S54T |
probably benign |
Het |
| Prkx |
A |
T |
X: 76,829,806 (GRCm39) |
L85Q |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,973,914 (GRCm39) |
I914N |
probably benign |
Het |
| Susd2 |
A |
G |
10: 75,478,459 (GRCm39) |
L39P |
probably benign |
Het |
| Teddm2 |
C |
T |
1: 153,726,770 (GRCm39) |
V35I |
probably benign |
Het |
| Tspo |
T |
A |
15: 83,455,631 (GRCm39) |
V6E |
possibly damaging |
Het |
| Vps41 |
G |
T |
13: 19,013,440 (GRCm39) |
V353F |
possibly damaging |
Het |
| Wfdc18 |
T |
A |
11: 83,600,033 (GRCm39) |
|
probably null |
Het |
| Wsb1 |
C |
T |
11: 79,139,324 (GRCm39) |
S124N |
probably damaging |
Het |
| Zfp445 |
T |
C |
9: 122,686,594 (GRCm39) |
E177G |
probably benign |
Het |
| Zfp759 |
G |
T |
13: 67,287,480 (GRCm39) |
V344L |
probably benign |
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 |
|
|
IGL03304:Mmp1b
|
APN |
9 |
7,384,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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