Incidental Mutation 'IGL03037:Mmp16'
ID |
408719 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mmp16
|
Ensembl Gene |
ENSMUSG00000028226 |
Gene Name |
matrix metallopeptidase 16 |
Synonyms |
MT3-MMP, Membrane type 3-MMP |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03037
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
17853072-18117479 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 17996222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 104
(P104S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121087
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029881]
[ENSMUST00000142434]
[ENSMUST00000149353]
[ENSMUST00000183662]
|
AlphaFold |
Q9WTR0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029881
AA Change: P104S
PolyPhen 2
Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029881 Gene: ENSMUSG00000028226 AA Change: P104S
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 damaging
Transcript: ENSMUST00000142434
AA Change: P104S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121087 Gene: ENSMUSG00000028226 AA Change: P104S
Domain | Start | End | E-Value | Type |
Pfam:PG_binding_1
|
38 |
96 |
1.1e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149353
AA Change: P75S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000116930 Gene: ENSMUSG00000028226 AA Change: P75S
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 |
possibly damaging
Transcript: ENSMUST00000183662
AA Change: P104S
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139102 Gene: ENSMUSG00000028226 AA Change: P104S
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 |
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl11 |
T |
C |
9: 107,807,294 (GRCm39) |
L539P |
probably damaging |
Het |
Adam23 |
A |
T |
1: 63,610,176 (GRCm39) |
Q726L |
possibly damaging |
Het |
Ago1 |
T |
C |
4: 126,355,587 (GRCm39) |
E74G |
probably benign |
Het |
Atp6v1d |
C |
A |
12: 78,904,122 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
C |
A |
3: 37,023,356 (GRCm39) |
S2227R |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,023,357 (GRCm39) |
S2229P |
probably damaging |
Het |
Cadm4 |
T |
A |
7: 24,200,220 (GRCm39) |
L243Q |
probably damaging |
Het |
Camsap2 |
C |
A |
1: 136,202,595 (GRCm39) |
L1274F |
probably damaging |
Het |
Car10 |
A |
G |
11: 92,991,044 (GRCm39) |
|
probably benign |
Het |
Catsperd |
A |
T |
17: 56,948,583 (GRCm39) |
D186V |
possibly damaging |
Het |
Cdc42bpg |
A |
G |
19: 6,361,230 (GRCm39) |
Y285C |
probably damaging |
Het |
Cenpi |
T |
A |
X: 133,250,017 (GRCm39) |
C599S |
possibly damaging |
Het |
Cln8 |
A |
T |
8: 14,944,679 (GRCm39) |
|
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,962,417 (GRCm39) |
|
probably null |
Het |
Cripto |
C |
A |
9: 110,772,288 (GRCm39) |
W36L |
probably benign |
Het |
Ddx5 |
T |
C |
11: 106,672,930 (GRCm39) |
N532D |
possibly damaging |
Het |
Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
Dock8 |
A |
G |
19: 25,063,545 (GRCm39) |
E249G |
probably benign |
Het |
Espnl |
T |
C |
1: 91,269,643 (GRCm39) |
V393A |
probably benign |
Het |
Fhip1b |
A |
T |
7: 105,028,293 (GRCm39) |
H885Q |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,696,116 (GRCm39) |
|
probably benign |
Het |
Fstl4 |
C |
A |
11: 53,059,050 (GRCm39) |
A503D |
possibly damaging |
Het |
Gda |
T |
A |
19: 21,411,673 (GRCm39) |
I42L |
possibly damaging |
Het |
Gprc5d |
C |
A |
6: 135,093,319 (GRCm39) |
C196F |
probably damaging |
Het |
Hnrnpa0 |
A |
G |
13: 58,275,767 (GRCm39) |
F121L |
probably damaging |
Het |
Hsd3b7 |
C |
T |
7: 127,400,322 (GRCm39) |
H24Y |
probably damaging |
Het |
Ift140 |
T |
C |
17: 25,311,368 (GRCm39) |
S1188P |
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mcemp1 |
C |
A |
8: 3,717,055 (GRCm39) |
Y65* |
probably null |
Het |
Mpst |
C |
A |
15: 78,294,798 (GRCm39) |
R177S |
probably benign |
Het |
Nek1 |
A |
T |
8: 61,487,086 (GRCm39) |
T279S |
probably benign |
Het |
Or1q1 |
C |
T |
2: 36,887,560 (GRCm39) |
T246I |
probably benign |
Het |
Or1x2 |
A |
T |
11: 50,918,117 (GRCm39) |
Y96F |
probably damaging |
Het |
Or4c11b |
A |
G |
2: 88,625,299 (GRCm39) |
Y191C |
probably damaging |
Het |
Or7g18 |
T |
A |
9: 18,786,668 (GRCm39) |
I12N |
probably damaging |
Het |
Pard3 |
A |
T |
8: 128,032,975 (GRCm39) |
T190S |
probably benign |
Het |
Pik3r4 |
A |
G |
9: 105,528,012 (GRCm39) |
D455G |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,616,308 (GRCm39) |
I756V |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,592,923 (GRCm39) |
L1730P |
probably benign |
Het |
Pnpla3 |
T |
C |
15: 84,056,960 (GRCm39) |
I155T |
probably damaging |
Het |
Prmt8 |
T |
C |
6: 127,680,940 (GRCm39) |
Y243C |
possibly damaging |
Het |
Rbfox1 |
T |
A |
16: 7,110,147 (GRCm39) |
|
probably benign |
Het |
Rps6ka2 |
G |
A |
17: 7,521,849 (GRCm39) |
|
probably null |
Het |
Scaf8 |
A |
G |
17: 3,240,496 (GRCm39) |
K623E |
probably damaging |
Het |
Slc26a4 |
A |
T |
12: 31,581,686 (GRCm39) |
|
probably benign |
Het |
Slfn8 |
T |
A |
11: 82,894,078 (GRCm39) |
I854F |
probably damaging |
Het |
Smarca4 |
T |
C |
9: 21,544,231 (GRCm39) |
|
probably benign |
Het |
Sos1 |
T |
C |
17: 80,727,758 (GRCm39) |
D775G |
probably damaging |
Het |
Spag17 |
G |
A |
3: 99,979,486 (GRCm39) |
|
probably null |
Het |
Spata31d1d |
T |
A |
13: 59,873,947 (GRCm39) |
E1196V |
possibly damaging |
Het |
Sqle |
T |
A |
15: 59,193,246 (GRCm39) |
Y208N |
probably damaging |
Het |
Tcl1b5 |
C |
T |
12: 105,145,273 (GRCm39) |
T79M |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,751,913 (GRCm39) |
F959L |
possibly damaging |
Het |
Tnfrsf19 |
T |
A |
14: 61,261,721 (GRCm39) |
K26I |
possibly damaging |
Het |
Trappc10 |
A |
T |
10: 78,034,869 (GRCm39) |
|
probably benign |
Het |
Trim80 |
T |
C |
11: 115,332,419 (GRCm39) |
W204R |
possibly damaging |
Het |
Trpm3 |
A |
G |
19: 22,866,776 (GRCm39) |
T536A |
possibly damaging |
Het |
Ttbk1 |
G |
A |
17: 46,757,256 (GRCm39) |
T1126I |
probably benign |
Het |
Uaca |
A |
G |
9: 60,748,147 (GRCm39) |
D37G |
probably damaging |
Het |
Ube3a |
T |
C |
7: 58,896,971 (GRCm39) |
|
probably benign |
Het |
Ubqln2 |
C |
T |
X: 152,282,692 (GRCm39) |
Q415* |
probably null |
Het |
Ugp2 |
T |
A |
11: 21,282,540 (GRCm39) |
K151* |
probably null |
Het |
Wasf1 |
A |
G |
10: 40,806,654 (GRCm39) |
K99R |
probably benign |
Het |
Wnt4 |
C |
T |
4: 137,016,472 (GRCm39) |
T42M |
possibly damaging |
Het |
Zfp54 |
T |
A |
17: 21,650,477 (GRCm39) |
D17E |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |