Incidental Mutation 'R1290:Mmp16'
| ID |
150752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp16
|
| Ensembl Gene |
ENSMUSG00000028226 |
| Gene Name |
matrix metallopeptidase 16 |
| Synonyms |
MT3-MMP, Membrane type 3-MMP |
| MMRRC Submission |
039356-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1290 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
17853072-18117479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18051725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 238
(N238I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029881]
[ENSMUST00000183662]
|
| AlphaFold |
Q9WTR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029881
AA Change: N238I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029881
Gene: ENSMUSG00000028226
AA Change: N238I
| 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 damaging
Transcript: ENSMUST00000183662
AA Change: N238I
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139102
Gene: ENSMUSG00000028226
AA Change: N238I
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfrp1 |
C |
T |
2: 181,006,397 (GRCm39) |
|
probably null |
Het |
| Borcs5 |
A |
G |
6: 134,621,331 (GRCm39) |
D34G |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Efl1 |
T |
C |
7: 82,320,936 (GRCm39) |
V123A |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,531,100 (GRCm39) |
L99Q |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,373,000 (GRCm39) |
D1026G |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,449 (GRCm39) |
F286S |
possibly damaging |
Het |
| Gramd1b |
A |
G |
9: 40,228,117 (GRCm39) |
|
probably null |
Het |
| Ints1 |
A |
T |
5: 139,757,165 (GRCm39) |
L417* |
probably null |
Het |
| Iqgap2 |
A |
T |
13: 95,805,021 (GRCm39) |
V845E |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,125,001 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
T |
C |
18: 74,402,557 (GRCm39) |
S20P |
possibly damaging |
Het |
| Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
| Neurod2 |
A |
T |
11: 98,218,114 (GRCm39) |
V350E |
possibly damaging |
Het |
| P3h2 |
C |
T |
16: 25,805,953 (GRCm39) |
E297K |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,398,283 (GRCm39) |
H78R |
possibly damaging |
Het |
| Slc22a14 |
A |
C |
9: 119,007,518 (GRCm39) |
L297R |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,587,275 (GRCm39) |
G445D |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,140,778 (GRCm39) |
D659G |
probably damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,411 (GRCm39) |
Q194R |
probably benign |
Het |
| Tas2r104 |
A |
T |
6: 131,661,808 (GRCm39) |
C300* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,707,199 (GRCm39) |
S702N |
probably benign |
Het |
| Wnk4 |
C |
G |
11: 101,167,166 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,356,145 (GRCm39) |
D785E |
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 |
|
|
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'- AGTGAGAATTTGCAGTGTGAGACCAC -3'
(R):5'- TGCCACATAGGGTTTAGCAAACAGG -3'
Sequencing Primer
(F):5'- TCTAGGAGTCAGAATAACATGAGTCC -3'
(R):5'- GGAGTAGTGGAACCTACCATATATC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation