Incidental Mutation 'R1158:Mmp16'
| ID |
101862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp16
|
| Ensembl Gene |
ENSMUSG00000028226 |
| Gene Name |
matrix metallopeptidase 16 |
| Synonyms |
MT3-MMP, Membrane type 3-MMP |
| MMRRC Submission |
039231-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
17853072-18117479 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 17987726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029881]
[ENSMUST00000142434]
[ENSMUST00000142434]
[ENSMUST00000149353]
[ENSMUST00000149353]
[ENSMUST00000183662]
|
| AlphaFold |
Q9WTR0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029881
|
| SMART Domains |
Protein: ENSMUSP00000029881
Gene: ENSMUSG00000028226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
38 |
96 |
3e-11 |
PFAM |
|
ZnMc
|
123 |
292 |
1.62e-54 |
SMART |
|
low complexity region
|
313 |
336 |
N/A |
INTRINSIC |
|
HX
|
347 |
390 |
1.36e-7 |
SMART |
|
HX
|
392 |
436 |
3.61e-12 |
SMART |
|
HX
|
439 |
485 |
1.86e-14 |
SMART |
|
HX
|
487 |
532 |
4.96e-10 |
SMART |
|
Pfam:DUF3377
|
537 |
607 |
6.6e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133416
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142434
|
| SMART Domains |
Protein: ENSMUSP00000121087
Gene: ENSMUSG00000028226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
38 |
96 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142434
|
| SMART Domains |
Protein: ENSMUSP00000121087
Gene: ENSMUSG00000028226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
38 |
96 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000149353
|
| SMART Domains |
Protein: ENSMUSP00000116930
Gene: ENSMUSG00000028226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
16 |
67 |
1.1e-11 |
PFAM |
|
Pfam:Peptidase_M10
|
97 |
174 |
6.1e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000149353
|
| SMART Domains |
Protein: ENSMUSP00000116930
Gene: ENSMUSG00000028226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
16 |
67 |
1.1e-11 |
PFAM |
|
Pfam:Peptidase_M10
|
97 |
174 |
6.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183662
|
| SMART Domains |
Protein: ENSMUSP00000139102
Gene: ENSMUSG00000028226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
38 |
96 |
9.9e-12 |
PFAM |
|
ZnMc
|
123 |
292 |
1.62e-54 |
SMART |
|
low complexity region
|
313 |
336 |
N/A |
INTRINSIC |
|
HX
|
347 |
390 |
1.36e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
98% (43/44) |
| 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. Mice lacking the encoded protein exhibit retarded growth of the skeleton, especially in the cranium and long bones. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. Mice homozygous for a null allele exhibit reduced skeletal growth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
T |
C |
9: 59,217,566 (GRCm39) |
V193A |
possibly damaging |
Het |
| Ahnak |
A |
C |
19: 8,991,290 (GRCm39) |
E4191D |
probably benign |
Het |
| BC024139 |
T |
A |
15: 76,004,542 (GRCm39) |
|
probably benign |
Het |
| Bpifb9a |
T |
G |
2: 154,104,184 (GRCm39) |
I209S |
probably benign |
Het |
| Bst1 |
T |
G |
5: 43,997,834 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Carf |
A |
G |
1: 60,186,998 (GRCm39) |
K499E |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,024,199 (GRCm39) |
E147G |
probably damaging |
Het |
| Cd8a |
T |
A |
6: 71,350,712 (GRCm39) |
V59D |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,214 (GRCm39) |
T301A |
probably benign |
Het |
| Cog5 |
G |
A |
12: 31,920,056 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,156,170 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,367,609 (GRCm39) |
S31P |
probably damaging |
Het |
| Eif1ad9 |
A |
T |
12: 88,296,438 (GRCm39) |
I139F |
unknown |
Het |
| Epb41 |
T |
C |
4: 131,727,502 (GRCm39) |
|
probably benign |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,250 (GRCm39) |
F94L |
probably benign |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,847,390 (GRCm39) |
K375R |
possibly damaging |
Het |
| Inhbe |
G |
A |
10: 127,187,186 (GRCm39) |
R77W |
probably damaging |
Het |
| Itgb8 |
T |
C |
12: 119,166,231 (GRCm39) |
E100G |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,248,472 (GRCm39) |
V44A |
possibly damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,827 (GRCm39) |
V315A |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,567,506 (GRCm39) |
T305S |
unknown |
Het |
| Map3k2 |
A |
G |
18: 32,350,211 (GRCm39) |
T354A |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,038,607 (GRCm39) |
|
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,385 (GRCm39) |
S274P |
probably damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,614 (GRCm39) |
C144S |
probably damaging |
Het |
| Or4c52 |
T |
A |
2: 89,845,598 (GRCm39) |
I108N |
possibly damaging |
Het |
| Or4k47 |
T |
C |
2: 111,452,086 (GRCm39) |
E111G |
probably damaging |
Het |
| Or5p52 |
G |
A |
7: 107,502,130 (GRCm39) |
V69I |
possibly damaging |
Het |
| Slc43a3 |
C |
A |
2: 84,768,140 (GRCm39) |
F37L |
probably benign |
Het |
| Slf2 |
G |
T |
19: 44,919,855 (GRCm39) |
A36S |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,132,598 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
A |
C |
1: 130,117,672 (GRCm39) |
|
probably null |
Het |
| Tnfrsf18 |
A |
C |
4: 156,112,739 (GRCm39) |
I142L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,632,855 (GRCm39) |
|
probably benign |
Het |
| Tufm |
T |
A |
7: 126,088,614 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
A |
T |
7: 85,059,058 (GRCm39) |
|
probably benign |
Het |
| Zfp385c |
T |
C |
11: 100,520,709 (GRCm39) |
|
probably benign |
Het |
| Zfp964 |
T |
A |
8: 70,116,503 (GRCm39) |
C368S |
unknown |
Het |
| Zswim8 |
G |
A |
14: 20,771,736 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mmp16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Mmp16
|
APN |
4 |
18,011,784 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01074:Mmp16
|
APN |
4 |
18,110,584 (GRCm39) |
splice site |
probably benign |
|
|
IGL01125:Mmp16
|
APN |
4 |
18,112,066 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01309:Mmp16
|
APN |
4 |
18,116,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01543:Mmp16
|
APN |
4 |
18,051,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02036:Mmp16
|
APN |
4 |
18,093,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02252:Mmp16
|
APN |
4 |
18,110,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03037:Mmp16
|
APN |
4 |
17,996,222 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0483:Mmp16
|
UTSW |
4 |
18,115,878 (GRCm39) |
splice site |
probably benign |
|
|
R0565:Mmp16
|
UTSW |
4 |
17,987,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0885:Mmp16
|
UTSW |
4 |
18,054,491 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0966:Mmp16
|
UTSW |
4 |
18,115,930 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1290:Mmp16
|
UTSW |
4 |
18,051,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1326:Mmp16
|
UTSW |
4 |
18,054,517 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1345:Mmp16
|
UTSW |
4 |
18,112,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1424:Mmp16
|
UTSW |
4 |
18,112,121 (GRCm39) |
splice site |
probably null |
|
|
R1610:Mmp16
|
UTSW |
4 |
18,011,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1722:Mmp16
|
UTSW |
4 |
18,051,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Mmp16
|
UTSW |
4 |
18,116,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2354:Mmp16
|
UTSW |
4 |
18,112,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2431:Mmp16
|
UTSW |
4 |
18,054,491 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2992:Mmp16
|
UTSW |
4 |
18,011,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5245:Mmp16
|
UTSW |
4 |
18,054,596 (GRCm39) |
intron |
probably benign |
|
|
R5534:Mmp16
|
UTSW |
4 |
18,110,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5941:Mmp16
|
UTSW |
4 |
18,054,354 (GRCm39) |
splice site |
probably benign |
|
|
R5961:Mmp16
|
UTSW |
4 |
17,853,842 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6160:Mmp16
|
UTSW |
4 |
18,051,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6514:Mmp16
|
UTSW |
4 |
18,116,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6570:Mmp16
|
UTSW |
4 |
18,011,501 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6866:Mmp16
|
UTSW |
4 |
17,853,800 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7037:Mmp16
|
UTSW |
4 |
18,116,148 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7168:Mmp16
|
UTSW |
4 |
18,110,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Mmp16
|
UTSW |
4 |
18,093,366 (GRCm39) |
missense |
probably benign |
|
|
R7635:Mmp16
|
UTSW |
4 |
18,054,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7799:Mmp16
|
UTSW |
4 |
18,112,112 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8179:Mmp16
|
UTSW |
4 |
17,853,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8767:Mmp16
|
UTSW |
4 |
18,051,714 (GRCm39) |
splice site |
probably benign |
|
|
R8859:Mmp16
|
UTSW |
4 |
18,054,355 (GRCm39) |
splice site |
probably benign |
|
|
R8889:Mmp16
|
UTSW |
4 |
18,051,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Mmp16
|
UTSW |
4 |
18,051,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9023:Mmp16
|
UTSW |
4 |
17,996,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation