Incidental Mutation 'R1610:Mmp16'
| ID |
176718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp16
|
| Ensembl Gene |
ENSMUSG00000028226 |
| Gene Name |
matrix metallopeptidase 16 |
| Synonyms |
MT3-MMP, Membrane type 3-MMP |
| MMRRC Submission |
039647-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1610 (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 G
at 18011582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 137
(T137A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029881]
[ENSMUST00000149353]
[ENSMUST00000183662]
|
| AlphaFold |
Q9WTR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029881
AA Change: T166A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000029881
Gene: ENSMUSG00000028226
AA Change: T166A
| 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: ENSMUST00000122346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133416
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149353
AA Change: T137A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000116930
Gene: ENSMUSG00000028226
AA Change: T137A
| 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 |
probably benign
Transcript: ENSMUST00000183662
AA Change: T166A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139102
Gene: ENSMUSG00000028226
AA Change: T166A
| 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: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
G |
A |
2: 22,980,563 (GRCm39) |
C312Y |
probably damaging |
Het |
| Adgrl1 |
T |
A |
8: 84,659,002 (GRCm39) |
M601K |
probably benign |
Het |
| Agbl4 |
G |
A |
4: 111,514,365 (GRCm39) |
E459K |
probably benign |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Casz1 |
C |
T |
4: 149,013,544 (GRCm39) |
A36V |
possibly damaging |
Het |
| Cfap20dc |
G |
T |
14: 8,511,110 (GRCm38) |
H435N |
probably benign |
Het |
| Chpf |
A |
G |
1: 75,453,292 (GRCm39) |
V327A |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,084 (GRCm39) |
Y135H |
probably damaging |
Het |
| Cobll1 |
C |
T |
2: 64,963,986 (GRCm39) |
D211N |
probably damaging |
Het |
| Cramp1 |
A |
G |
17: 25,202,925 (GRCm39) |
V368A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,121,946 (GRCm39) |
T1374A |
probably benign |
Het |
| Dpyd |
A |
G |
3: 118,858,655 (GRCm39) |
H623R |
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,830 (GRCm39) |
N476S |
probably benign |
Het |
| Endog |
A |
T |
2: 30,063,899 (GRCm39) |
I267F |
probably damaging |
Het |
| Ephb6 |
A |
T |
6: 41,591,307 (GRCm39) |
K155* |
probably null |
Het |
| Far2 |
T |
C |
6: 148,058,956 (GRCm39) |
V214A |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,169,750 (GRCm39) |
V3003A |
probably damaging |
Het |
| Frg2f1 |
T |
A |
4: 119,388,485 (GRCm39) |
T5S |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,637,972 (GRCm39) |
T349S |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,746,463 (GRCm39) |
T2951A |
probably benign |
Het |
| Hc |
G |
T |
2: 34,896,173 (GRCm39) |
D1203E |
probably benign |
Het |
| Isg20 |
C |
A |
7: 78,564,257 (GRCm39) |
Q55K |
possibly damaging |
Het |
| Jph4 |
G |
T |
14: 55,351,560 (GRCm39) |
A152E |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 65,897,109 (GRCm39) |
T264A |
probably damaging |
Het |
| Kcnq5 |
T |
G |
1: 21,527,685 (GRCm39) |
T463P |
probably damaging |
Het |
| Klra8 |
A |
G |
6: 130,095,981 (GRCm39) |
S204P |
probably damaging |
Het |
| Ldlrad1 |
A |
G |
4: 107,072,072 (GRCm39) |
D98G |
probably damaging |
Het |
| Lhfpl4 |
T |
C |
6: 113,171,097 (GRCm39) |
T30A |
possibly damaging |
Het |
| Lig1 |
T |
A |
7: 13,019,266 (GRCm39) |
L80Q |
probably damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,186,699 (GRCm39) |
Y558C |
probably benign |
Het |
| Lrrn3 |
G |
T |
12: 41,502,992 (GRCm39) |
L442I |
possibly damaging |
Het |
| Mc2r |
A |
G |
18: 68,540,519 (GRCm39) |
F258S |
probably damaging |
Het |
| Nfatc2ip |
A |
T |
7: 125,986,579 (GRCm39) |
S359T |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Nup50l |
G |
T |
6: 96,142,270 (GRCm39) |
P258Q |
probably damaging |
Het |
| Or10a48 |
T |
A |
7: 108,425,131 (GRCm39) |
H25L |
probably benign |
Het |
| Or4c15b |
T |
C |
2: 89,113,165 (GRCm39) |
H104R |
probably damaging |
Het |
| Or4s2b |
A |
T |
2: 88,508,918 (GRCm39) |
K233* |
probably null |
Het |
| Or8b1b |
C |
T |
9: 38,375,927 (GRCm39) |
L197F |
probably damaging |
Het |
| Pacc1 |
A |
G |
1: 191,077,262 (GRCm39) |
D195G |
probably benign |
Het |
| Plagl1 |
C |
T |
10: 13,004,706 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
A |
T |
15: 89,042,696 (GRCm39) |
S1531T |
probably damaging |
Het |
| Ptpn22 |
G |
A |
3: 103,809,512 (GRCm39) |
|
probably null |
Het |
| Rtn1 |
T |
A |
12: 72,266,053 (GRCm39) |
Q174L |
possibly damaging |
Het |
| Selenoo |
A |
G |
15: 88,984,119 (GRCm39) |
E645G |
probably benign |
Het |
| Serpina1a |
A |
C |
12: 103,820,096 (GRCm39) |
D383E |
possibly damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,816,344 (GRCm39) |
Y345F |
probably benign |
Het |
| Smbd1 |
A |
G |
16: 32,627,135 (GRCm39) |
V51A |
possibly damaging |
Het |
| Tchh |
C |
T |
3: 93,352,146 (GRCm39) |
R529W |
unknown |
Het |
| Tonsl |
A |
T |
15: 76,522,757 (GRCm39) |
Y165N |
probably damaging |
Het |
| Trdmt1 |
G |
A |
2: 13,520,870 (GRCm39) |
T344I |
probably damaging |
Het |
| Ubash3b |
C |
A |
9: 40,954,796 (GRCm39) |
R116L |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,463,995 (GRCm39) |
V765A |
probably damaging |
Het |
| Zfp474 |
C |
T |
18: 52,771,437 (GRCm39) |
T30I |
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 |
|
|
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'- CTCCCTAATAGCCTTGGCACATGG -3'
(R):5'- TCAGAATCAAAATGGGTGTCGCCTC -3'
Sequencing Primer
(F):5'- CCTTGGCACATGGAGGTC -3'
(R):5'- ATGGGTGTCGCCTCCAATTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation