Incidental Mutation 'R0966:Mmp16'
ID |
84050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp16
|
Ensembl Gene |
ENSMUSG00000028226 |
Gene Name |
matrix metallopeptidase 16 |
Synonyms |
MT3-MMP, Membrane type 3-MMP |
MMRRC Submission |
039095-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0966 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
17853072-18117479 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 18115930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 511
(N511K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029881]
[ENSMUST00000183662]
|
AlphaFold |
Q9WTR0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029881
AA Change: N511K
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000029881 Gene: ENSMUSG00000028226 AA Change: N511K
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 |
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.8%
- 20x: 94.0%
|
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. 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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
T |
A |
16: 88,504,310 (GRCm39) |
R162S |
probably damaging |
Het |
Arhgef10 |
T |
G |
8: 14,990,343 (GRCm39) |
S272A |
probably benign |
Het |
Cd101 |
A |
C |
3: 100,915,538 (GRCm39) |
S676R |
probably benign |
Het |
Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
Flrt2 |
T |
C |
12: 95,747,075 (GRCm39) |
V471A |
possibly damaging |
Het |
Fzd8 |
A |
T |
18: 9,214,745 (GRCm39) |
E609V |
probably damaging |
Het |
Gm10110 |
A |
C |
14: 90,135,555 (GRCm39) |
|
noncoding transcript |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Igf2bp2 |
C |
T |
16: 21,907,840 (GRCm39) |
R19Q |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,131,816 (GRCm39) |
H460R |
probably damaging |
Het |
Or52a5 |
T |
A |
7: 103,426,656 (GRCm39) |
T299S |
probably damaging |
Het |
Plekhh1 |
T |
C |
12: 79,112,504 (GRCm39) |
F594L |
probably damaging |
Het |
Prkca |
T |
A |
11: 107,905,110 (GRCm39) |
K209N |
possibly damaging |
Het |
Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,673,299 (GRCm39) |
F413S |
probably benign |
Het |
Ugt1a6b |
G |
A |
1: 88,034,850 (GRCm39) |
V63I |
probably benign |
Het |
Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
Vps36 |
G |
A |
8: 22,696,833 (GRCm39) |
W131* |
probably null |
Het |
Wdr3 |
A |
T |
3: 100,068,385 (GRCm39) |
V41E |
probably damaging |
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 |
R1158:Mmp16
|
UTSW |
4 |
17,987,726 (GRCm39) |
splice site |
probably null |
|
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 |
PCR Primer
(F):5'- ATTTACACCACAAGCACTGGGGAG -3'
(R):5'- CGTTTACAGTACAGTATGTGGCGGG -3'
Sequencing Primer
(F):5'- caagggaagggaagggaag -3'
(R):5'- TCCTCTTGAACTGGAACACAGTG -3'
|
Posted On |
2013-11-08 |