Incidental Mutation 'R5245:Mmp16'
ID |
401098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp16
|
Ensembl Gene |
ENSMUSG00000028226 |
Gene Name |
matrix metallopeptidase 16 |
Synonyms |
MT3-MMP, Membrane type 3-MMP |
MMRRC Submission |
042816-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5245 (G1)
|
Quality Score |
181 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
17853072-18117479 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 18054596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029881]
[ENSMUST00000183662]
|
AlphaFold |
Q9WTR0 |
Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000139418
|
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: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
100% (51/51) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17b |
T |
A |
19: 21,661,624 (GRCm39) |
Y270* |
probably null |
Het |
Akap9 |
A |
T |
5: 4,026,209 (GRCm39) |
Q59L |
probably damaging |
Het |
Aloxe3 |
A |
T |
11: 69,020,502 (GRCm39) |
Q182L |
probably benign |
Het |
Arhgef5 |
G |
T |
6: 43,242,614 (GRCm39) |
|
probably benign |
Het |
Bcas3 |
T |
A |
11: 85,449,912 (GRCm39) |
N663K |
probably damaging |
Het |
Cimap3 |
T |
C |
3: 105,921,770 (GRCm39) |
H51R |
possibly damaging |
Het |
Cntfr |
A |
T |
4: 41,670,879 (GRCm39) |
W95R |
possibly damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,714,657 (GRCm39) |
T275A |
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,473,873 (GRCm39) |
R227G |
probably damaging |
Het |
Ets2 |
G |
A |
16: 95,513,304 (GRCm39) |
W160* |
probably null |
Het |
Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
G |
2: 82,823,505 (GRCm39) |
M6413V |
probably benign |
Het |
Gm14401 |
C |
T |
2: 176,778,471 (GRCm39) |
P186S |
probably damaging |
Het |
Hrc |
G |
A |
7: 44,984,855 (GRCm39) |
G2D |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,903,284 (GRCm39) |
V142A |
possibly damaging |
Het |
Lama3 |
G |
A |
18: 12,552,950 (GRCm39) |
C454Y |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,680,292 (GRCm39) |
T2068A |
probably damaging |
Het |
Mab21l2 |
T |
C |
3: 86,454,799 (GRCm39) |
E67G |
possibly damaging |
Het |
Map3k5 |
G |
A |
10: 20,016,437 (GRCm39) |
V1343I |
probably benign |
Het |
Mcm4 |
T |
A |
16: 15,448,289 (GRCm39) |
T423S |
probably benign |
Het |
Nat3 |
C |
T |
8: 68,000,832 (GRCm39) |
T237I |
probably benign |
Het |
Nol4 |
A |
T |
18: 22,828,179 (GRCm39) |
*484R |
probably null |
Het |
Nsmf |
A |
G |
2: 24,946,119 (GRCm39) |
E202G |
probably damaging |
Het |
Olfml2b |
T |
C |
1: 170,496,443 (GRCm39) |
V358A |
probably benign |
Het |
Or2v2 |
T |
A |
11: 49,004,116 (GRCm39) |
I146F |
probably benign |
Het |
Or4b1d |
T |
A |
2: 89,968,606 (GRCm39) |
K292N |
probably damaging |
Het |
Osbpl1a |
T |
C |
18: 12,891,910 (GRCm39) |
E466G |
probably damaging |
Het |
Pim3 |
A |
G |
15: 88,747,404 (GRCm39) |
E90G |
possibly damaging |
Het |
Recql5 |
T |
C |
11: 115,784,385 (GRCm39) |
E905G |
probably damaging |
Het |
Rnf31 |
T |
G |
14: 55,839,163 (GRCm39) |
L925R |
probably damaging |
Het |
Secisbp2l |
A |
G |
2: 125,589,511 (GRCm39) |
V679A |
probably damaging |
Het |
Setdb2 |
T |
A |
14: 59,663,943 (GRCm39) |
E68V |
probably null |
Het |
Shtn1 |
T |
A |
19: 59,020,652 (GRCm39) |
N190I |
possibly damaging |
Het |
Slc25a25 |
G |
A |
2: 32,311,340 (GRCm39) |
Q14* |
probably null |
Het |
Snrnp27 |
A |
G |
6: 86,659,941 (GRCm39) |
S18P |
unknown |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Tbx5 |
T |
C |
5: 120,021,230 (GRCm39) |
V412A |
possibly damaging |
Het |
Tcea3 |
A |
G |
4: 135,991,813 (GRCm39) |
T166A |
probably benign |
Het |
Tdrp |
A |
T |
8: 14,024,479 (GRCm39) |
|
probably benign |
Het |
Tent5a |
G |
T |
9: 85,208,401 (GRCm39) |
Q160K |
possibly damaging |
Het |
Tmem132e |
T |
C |
11: 82,333,464 (GRCm39) |
V624A |
probably damaging |
Het |
Tnnt1 |
T |
C |
7: 4,513,066 (GRCm39) |
D72G |
probably damaging |
Het |
Trim80 |
C |
A |
11: 115,332,398 (GRCm39) |
H197N |
probably damaging |
Het |
Zfp322a |
A |
T |
13: 23,541,156 (GRCm39) |
C195* |
probably null |
Het |
Zfp335 |
A |
G |
2: 164,736,678 (GRCm39) |
S986P |
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 |
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'- AGGTCCACCTGACAAGATCC -3'
(R):5'- GCAATCTTCTGCTAGAAATCGAC -3'
Sequencing Primer
(F):5'- GACCTCTACCGACAGTGCC -3'
(R):5'- TGACTCCTAACTGCGAGA -3'
|
Posted On |
2016-07-06 |