Incidental Mutation 'R8767:Mmp16'
| ID |
686547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp16
|
| Ensembl Gene |
ENSMUSG00000028226 |
| Gene Name |
matrix metallopeptidase 16 |
| Synonyms |
MT3-MMP, Membrane type 3-MMP |
| MMRRC Submission |
068601-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8767 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
17853072-18117479 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 18051714 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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd31 |
A |
G |
13: 96,969,224 (GRCm39) |
T954A |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,039,740 (GRCm39) |
M319L |
probably benign |
Het |
| Aste1 |
A |
G |
9: 105,274,098 (GRCm39) |
N113D |
possibly damaging |
Het |
| Ccnh |
C |
T |
13: 85,356,959 (GRCm39) |
Q275* |
probably null |
Het |
| Cfi |
G |
A |
3: 129,644,497 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Crybg3 |
T |
A |
16: 59,376,500 (GRCm39) |
M1585L |
probably benign |
Het |
| D630036H23Rik |
A |
G |
12: 36,431,441 (GRCm39) |
S186P |
unknown |
Het |
| Dnhd1 |
T |
C |
7: 105,301,330 (GRCm39) |
L229P |
probably damaging |
Het |
| Dtymk |
A |
T |
1: 93,728,635 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,930,779 (GRCm39) |
I1511K |
probably damaging |
Het |
| Entrep3 |
T |
G |
3: 89,091,725 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,775,080 (GRCm39) |
D342G |
probably benign |
Het |
| Hcar1 |
A |
G |
5: 124,017,113 (GRCm39) |
F193L |
probably damaging |
Het |
| Hivep2 |
T |
G |
10: 14,004,992 (GRCm39) |
L530R |
probably damaging |
Het |
| Ilrun |
T |
C |
17: 27,987,043 (GRCm39) |
T228A |
probably benign |
Het |
| Krtap5-2 |
TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA |
TCCACAGGAACTACA |
7: 141,728,845 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
G |
A |
14: 57,931,781 (GRCm39) |
T879M |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,600,884 (GRCm39) |
T503I |
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,229,549 (GRCm39) |
Y1186H |
probably damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,619,387 (GRCm39) |
F300S |
probably damaging |
Het |
| Or2y1g |
A |
G |
11: 49,171,227 (GRCm39) |
N84S |
possibly damaging |
Het |
| Or7g21 |
A |
C |
9: 19,032,922 (GRCm39) |
I221L |
possibly damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,905 (GRCm39) |
S363P |
possibly damaging |
Het |
| Ptdss1 |
C |
T |
13: 67,101,608 (GRCm39) |
A99V |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,986,187 (GRCm39) |
L329Q |
probably damaging |
Het |
| Rnf115 |
T |
C |
3: 96,695,907 (GRCm39) |
V231A |
probably damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,257,345 (GRCm39) |
Y486H |
probably damaging |
Het |
| Shh |
T |
A |
5: 28,671,487 (GRCm39) |
N92I |
possibly damaging |
Het |
| Slc13a4 |
T |
A |
6: 35,245,783 (GRCm39) |
I621F |
probably benign |
Het |
| Srrm1 |
T |
C |
4: 135,059,532 (GRCm39) |
T438A |
unknown |
Het |
| Synj1 |
A |
C |
16: 90,758,406 (GRCm39) |
F813V |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,783,133 (GRCm39) |
|
probably benign |
Het |
| Trir |
T |
A |
8: 85,753,690 (GRCm39) |
F55I |
probably damaging |
Het |
| Tsr1 |
A |
G |
11: 74,799,149 (GRCm39) |
T777A |
probably damaging |
Het |
| Vmn2r5 |
G |
A |
3: 64,415,103 (GRCm39) |
R86C |
possibly 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 |
|
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 |
|
|
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'- AATCATTTGTGACTACCCTATCACC -3'
(R):5'- GCTGCCACATAGGGTTTAGC -3'
Sequencing Primer
(F):5'- CCCTTTACAGAATACCTTCCAGTAGG -3'
(R):5'- CTGCCACATAGGGTTTAGCAAACAG -3'
|
| Posted On |
2021-10-22 |
Incidental Mutation