Incidental Mutation 'R5961:Mmp16'
| ID |
471818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp16
|
| Ensembl Gene |
ENSMUSG00000028226 |
| Gene Name |
matrix metallopeptidase 16 |
| Synonyms |
MT3-MMP, Membrane type 3-MMP |
| MMRRC Submission |
043247-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5961 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
17853072-18117479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17853842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 41
(F41S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029881]
[ENSMUST00000142434]
[ENSMUST00000183662]
|
| AlphaFold |
Q9WTR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029881
AA Change: F41S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000029881
Gene: ENSMUSG00000028226
AA Change: F41S
| 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 benign
Transcript: ENSMUST00000142434
AA Change: F41S
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121087
Gene: ENSMUSG00000028226
AA Change: F41S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
38 |
96 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183662
AA Change: F41S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000139102
Gene: ENSMUSG00000028226
AA Change: F41S
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.7%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,338 (GRCm39) |
L203P |
probably damaging |
Het |
| Aen |
C |
G |
7: 78,556,907 (GRCm39) |
H252D |
probably damaging |
Het |
| Alkbh6 |
T |
A |
7: 30,013,617 (GRCm39) |
|
probably null |
Het |
| Birc6 |
T |
C |
17: 74,953,596 (GRCm39) |
V3286A |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,596,246 (GRCm39) |
M1925T |
probably benign |
Het |
| Caprin2 |
A |
C |
6: 148,765,038 (GRCm39) |
S554R |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,708,993 (GRCm39) |
S1280P |
probably damaging |
Het |
| Cfap57 |
T |
C |
4: 118,428,942 (GRCm39) |
E1008G |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,120,366 (GRCm39) |
I1813T |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,888,546 (GRCm39) |
E3050G |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,321,974 (GRCm39) |
F3782S |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnajc17 |
T |
C |
2: 119,016,527 (GRCm39) |
T64A |
possibly damaging |
Het |
| Dvl3 |
T |
G |
16: 20,349,729 (GRCm39) |
S567R |
possibly damaging |
Het |
| Epb41l1 |
T |
A |
2: 156,363,706 (GRCm39) |
S738R |
probably benign |
Het |
| Exph5 |
T |
C |
9: 53,288,555 (GRCm39) |
W1879R |
probably damaging |
Het |
| Fam83a |
T |
A |
15: 57,872,992 (GRCm39) |
F274I |
possibly damaging |
Het |
| Ggt1 |
A |
G |
10: 75,421,736 (GRCm39) |
|
probably null |
Het |
| Ido2 |
C |
T |
8: 25,023,786 (GRCm39) |
V351M |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,435,440 (GRCm39) |
E469G |
possibly damaging |
Het |
| Kdm2b |
A |
G |
5: 123,070,724 (GRCm39) |
S403P |
probably benign |
Het |
| Klhl2 |
C |
T |
8: 65,202,818 (GRCm39) |
R460H |
probably damaging |
Het |
| Mfsd6l |
A |
G |
11: 68,447,368 (GRCm39) |
Y73C |
possibly damaging |
Het |
| Mlec |
A |
T |
5: 115,288,159 (GRCm39) |
C205* |
probably null |
Het |
| Mlx |
T |
C |
11: 100,980,053 (GRCm39) |
Y129H |
probably damaging |
Het |
| Mmadhc |
T |
C |
2: 50,181,421 (GRCm39) |
H83R |
probably damaging |
Het |
| Mroh6 |
G |
A |
15: 75,759,617 (GRCm39) |
Q187* |
probably null |
Het |
| Myh14 |
T |
A |
7: 44,272,518 (GRCm39) |
E1437V |
probably damaging |
Het |
| Nrxn1 |
A |
C |
17: 90,762,371 (GRCm39) |
L37R |
probably damaging |
Het |
| Or6c209 |
T |
C |
10: 129,483,723 (GRCm39) |
M242T |
possibly damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,322,859 (GRCm39) |
R48S |
probably damaging |
Het |
| Prokr2 |
A |
G |
2: 132,215,595 (GRCm39) |
Y128H |
possibly damaging |
Het |
| Prtg |
T |
C |
9: 72,764,228 (GRCm39) |
V567A |
probably benign |
Het |
| Rbis |
T |
C |
3: 14,676,124 (GRCm39) |
T26A |
possibly damaging |
Het |
| Srrm2 |
G |
A |
17: 24,039,083 (GRCm39) |
|
probably benign |
Het |
| Stat4 |
A |
T |
1: 52,104,543 (GRCm39) |
I115L |
possibly damaging |
Het |
| Tnxb |
G |
A |
17: 34,937,609 (GRCm39) |
V3833M |
probably damaging |
Het |
| Ugt2b36 |
C |
T |
5: 87,228,724 (GRCm39) |
|
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,652,523 (GRCm39) |
S47P |
probably damaging |
Het |
| Vps53 |
A |
G |
11: 75,939,316 (GRCm39) |
Y696H |
probably damaging |
Het |
| Zfp384 |
T |
C |
6: 125,000,997 (GRCm39) |
I23T |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,088,346 (GRCm39) |
Y725C |
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 |
|
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 |
|
|
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'- AAGCTTTTACCCACCCCAGG -3'
(R):5'- TCTCCAGGCATCCATCACTTAG -3'
Sequencing Primer
(F):5'- TCTTTTTAAAAGGAAACAGGGAGTG -3'
(R):5'- GGCATCCATCACTTAGAACCCTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation