Incidental Mutation 'IGL02928:Mmp1b'
| ID |
363970 |
| 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 # |
IGL02928
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
7368239-7388047 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to A
at 7368242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Leucine
at position 464
(*464L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047888]
[ENSMUST00000065079]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047888
AA Change: *464L
|
| SMART Domains |
Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620
AA Change: *464L
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065079
|
| SMART Domains |
Protein: ENSMUSP00000065291
Gene: ENSMUSG00000049723
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
30 |
91 |
6.5e-22 |
PFAM |
|
ZnMc
|
109 |
268 |
1.23e-54 |
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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,980,327 (GRCm39) |
Y92C |
probably damaging |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,802 (GRCm39) |
L407F |
possibly damaging |
Het |
| Abcc3 |
G |
T |
11: 94,252,132 (GRCm39) |
T817K |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 77,977,539 (GRCm39) |
|
probably benign |
Het |
| Arhgef16 |
G |
T |
4: 154,367,350 (GRCm39) |
Q352K |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,065,716 (GRCm39) |
I68V |
probably benign |
Het |
| Col5a2 |
G |
A |
1: 45,424,180 (GRCm39) |
A1082V |
probably benign |
Het |
| Col6a1 |
A |
T |
10: 76,545,500 (GRCm39) |
Y991N |
possibly damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,129,798 (GRCm39) |
I1021T |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,303,168 (GRCm39) |
|
probably null |
Het |
| Ern1 |
A |
G |
11: 106,296,705 (GRCm39) |
|
probably benign |
Het |
| Fgf18 |
A |
T |
11: 33,074,674 (GRCm39) |
I99N |
possibly damaging |
Het |
| Glp1r |
A |
G |
17: 31,137,911 (GRCm39) |
D114G |
probably benign |
Het |
| Gm10553 |
A |
G |
1: 85,077,933 (GRCm39) |
K17E |
possibly damaging |
Het |
| Gm5422 |
T |
A |
10: 31,126,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
A |
C |
4: 155,637,863 (GRCm39) |
T196P |
probably benign |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,412 (GRCm39) |
D35V |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,517,711 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
A |
T |
13: 107,025,863 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,659,715 (GRCm39) |
Q307L |
probably damaging |
Het |
| Mrps7 |
C |
T |
11: 115,495,910 (GRCm39) |
Q113* |
probably null |
Het |
| Npat |
A |
C |
9: 53,478,138 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
A |
G |
1: 62,854,605 (GRCm39) |
I852V |
probably damaging |
Het |
| Or10ak14 |
A |
G |
4: 118,611,697 (GRCm39) |
F15L |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,506,273 (GRCm39) |
E232G |
probably benign |
Het |
| P2rx6 |
T |
A |
16: 17,382,901 (GRCm39) |
|
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,548,346 (GRCm39) |
N466K |
possibly damaging |
Het |
| Prss12 |
A |
T |
3: 123,280,805 (GRCm39) |
N497Y |
possibly damaging |
Het |
| Psg22 |
T |
C |
7: 18,453,458 (GRCm39) |
V51A |
probably damaging |
Het |
| Ptgir |
T |
C |
7: 16,642,923 (GRCm39) |
S175P |
possibly damaging |
Het |
| Rd3l |
T |
C |
12: 111,946,012 (GRCm39) |
S156G |
probably benign |
Het |
| Reck |
C |
T |
4: 43,912,078 (GRCm39) |
H196Y |
possibly damaging |
Het |
| Rft1 |
T |
A |
14: 30,385,072 (GRCm39) |
V165D |
possibly damaging |
Het |
| Rin2 |
A |
G |
2: 145,701,926 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
A |
G |
1: 74,168,241 (GRCm39) |
|
probably benign |
Het |
| Scfd2 |
G |
A |
5: 74,691,832 (GRCm39) |
T150M |
probably damaging |
Het |
| Sgca |
A |
G |
11: 94,863,129 (GRCm39) |
W75R |
probably damaging |
Het |
| Sirt7 |
A |
T |
11: 120,511,042 (GRCm39) |
D318E |
probably benign |
Het |
| Smr2l |
A |
T |
5: 88,424,976 (GRCm39) |
I14L |
probably benign |
Het |
| Snta1 |
C |
T |
2: 154,222,959 (GRCm39) |
A255T |
probably benign |
Het |
| Stxbp2 |
A |
G |
8: 3,691,736 (GRCm39) |
D485G |
probably damaging |
Het |
| Sycp1 |
T |
A |
3: 102,726,134 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,917,997 (GRCm39) |
V1922A |
possibly damaging |
Het |
| Ttc7b |
A |
T |
12: 100,369,674 (GRCm39) |
V365D |
probably damaging |
Het |
| Upk3b |
A |
G |
5: 136,067,995 (GRCm39) |
E62G |
probably benign |
Het |
| Wdr36 |
T |
C |
18: 32,980,372 (GRCm39) |
|
probably null |
Het |
| Yars2 |
T |
C |
16: 16,121,410 (GRCm39) |
F188S |
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 |
|
IGL03218:Mmp1b
|
APN |
9 |
7,387,907 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
2015-12-18 |
Incidental Mutation